Researching Medical Conditions – Advice from an Expert

I recently got some advice on how to research medical conditions from a parent who has a wealth of experience in health care systems and researching illnesses.

David Prendergast is a senior researcher at Intel, although we work in different teams we share the same office. David has, unfortunately extensive knowledge of dealing with a child who has a serious medical condition. His daughter, Beth, suffered from a rare form of leukaemia. Unfortunately Beth passed away, but in the 9 months of Beth's illness David learnt an awful lot about researching medical conditions, and how to interact with doctors, he took the time out to share his tips with me, and I wanted to write them down and share them with everyone else here. I hope these few ideas and concepts will help other parents who, like us are facing the steep learning curve required to get up to speed on infantile spasms.


Tips on Research

When we first heard of Matties diagnosis Emma and I panic researched. We searched the internet for Infantile Spasms and randomly read articles we found. It is something that the doctors and nurses in the hospital had told us to avoid. It is easy to get confused or to read articles of questionable reliability, and Emma and I quickly found ourselves facing two questions:
1. Why isn't the information we're reading matching what the doctors are telling us?
2. How do I know what articles to trust and what to avoid?

Tip: Asymmetric Data Exchange

As you've probably noticed doctors generally don't appear to give you the whole story. Depending on the doctor in question it can often take us as parents, many questions before we get a sensible answer. This doesn't happen by accident. Medical professionals are often trained to behave in this way. This is called "Asymmetric Data Exchange" where we, as parents provide the doctor with all the information we know, in return the doctors provide us with only the little bit of information that they believe that we need to know. For a parent it can be incredibly frustrating. The doctors don't do this to be mean or to annoy us, they do it for a reason. Doctors have to speak to a wide range of people, for some people facts and figures help and make sense, but for others the same information can simply be very confusing, scary, and frightening. So doctors tend to err on the side of caution and only tell us what we need to know.

Warning: Not for everyone

These tips and tricks will help you discover all the facts and figures about infantile spasms, but first ask yourself if you really want to know? - some of the details and statistics can be concerning.

Tip: Keep notes

When researching you'll come across lots of information, so much so that you can easily confuse multiple points. Keeping good structured notes is the best way to help prevent this confusion. It also allows you to quickly look back and remind yourself of what you've found or to double check a point. David mentioned that it was very easy to think that you've read a fact, when in reality you're confusing two reports. This can cause all sorts of confusing when your speaking to doctors. Keeping good notes is important and will help you avoid this.

Tip: Understand the Condition

It is important not to skip the basics. Doctors apply the asymmetric data exchange principle. They may have explained the condition to you, but it is important to do your own independent reading on it too. Think of the following key questions when doing your own research:
1. How does the condition show its self?
2. What happens if the condition is not treated?
3. How is the condition diagnosed?
4. What causes the condition?
5. Are there any related conditions?

Tip: Knowing your Doctors

It is important to understand your doctors area of expertise, is this an area that they are good at, or have an interest in? Doing some reading about your doctor will help. Searching Google or Bing for your doctor's name and the name of the hospital will usually bring up some good information. When researching your doctor keep the following questions in mind:
1. Who is the doctor in charge of your child's treatment?
2. What is this doctor's background?
3. Have they published any papers on the topic themselves?
4. Where did they work previously?

Tip: Understand and Map the Treatment Plans

Treatment plans are structured methods of treating a patient for a condition. They provide doctors with a rough guide on how to address a condition. Treatment plans exist for a range of conditions, including Infantile Spasms.

The plans themselves are based on known research, and national guidance into the differing treatment options. They group the differing treatments into stages, a stage is often referred to as a “line”. The first stage, or “first line” will contain treatments which have been shown to be the most effective at controlling infantile spasms, with the least severe side effects. The second line will contain treatments which have not been as successful, or have worse side effects.

Research and national guidance differs around the world, consequently treatment plans differ from country to country. Understanding what treatment plans exist and what drugs are suggested will help when speaking to the doctor. It provides us as parents with information on alternative treatments which we can suggest. It also prepares you for the treatments which might come next, assuming the current treatment doesn't work. This is important as it ensures that we parents are prepared when the doctor starts suggesting changes to the medication.

I've started the process of mapping treatments for Infantile Spasms on a page on my personal blog. It's very rough at the moment, if you could provide information on what the treatment plan in your country is like, please do, and I'll add it to the treatment plan page.

Tip: Research Papers - Search for RCTs

By searching for research papers you may find treatments which are not listed on the treatment plans, or additional background information on the treatments which are listed. But how do you know what research is good, and what is bad? Randomised Controlled Trials (RCTs) are experiments which are run by medical researchers. In a typical RCT a patient will be randomly assigned to one of two groups, the first group will be a group receiving treatment, the second group will be a group who doesn't receive treatment. Typically, until the end of the trail the patient will not know which group they are in. If the treatment is a new drug, then both groups could receive a tablet. The tablet's will look identical, except only the patients in the first group will receive a tablet with a drug in it. The others, in the second group will receive a tablet with no drugs in it.

Medical researchers use RCTs because the human body has the ability to trick it's self into getting better. Patients who receive a tablet can believe that the tablet is helping them and can even make progress, when in reality the tablet is a dummy. What's happening is that the patient will believe that the tablet will make them better and it is actually this belief which is giving them the boost, not the tablet at all. This is often referred to as the placebo effect, RCTs account for this in their experimental structure.

Searching Google for "Infantile Spasms RCT" and "West syndrome RCT" turns up a lot of research papers.

Identifying Centres of Excellence

Researchers in any profession will pick niche areas to focus on. This will be reflected in the RCTs that are available, you'll find a lot associated with the same university or medical establishment.

Citation Loops

How do you tell good research from poor? - look for citations. Good research papers will get "cited" (listed) in other research papers. As a very rough rule of thumb, the more citations the better the research.

Pick up the phone

If you find a bit of research which you think might help, but you've got a few questions about it - then pick up the phone. Each of the research papers will list the individuals who worked on it, and the organisation for which they work. David explained that most are happy to receive phone calls about their work. So pick up the phone and ring, David said that they often walk through their research again and can go through in a little more detail, or can explain in plain English what they discovered. I asked David "Don't they get upset receiving a lot of phone calls about this stuff?". David's response was sobering and enlightening, he simply said "Do you really care?".

Tip: Be wary of Wikipedia

This was counter intuitive for me, because when I'm looking for details on an IT question Wikipedia is fantastic (perhaps that is because it is mainly updated by geeks).  Remember, that Wikipedia is a crowd sourced site and particularly when dealing with media information you should not to use it as your sole source of information, but should double check what you find using other sources.

Big-Data and Infantile Spasms

All the doctors we've spoken to about Mattie and his condition have commented on how little information is available. When we ask about treatments we get the same response - "we just don't know".

It appears to be a common refrain from doctors when speaking about Infantile Spasms. I found another blog about a family also coping with Infantile Spasms and the last entry concluded with the following lines:

The truth is I’m tired. I’m tired of hearing “we don’t know” from doctors. I’m tired of all the appointments. I’m tired of all the tests and procedures. I’m just plain exhausted in every sense of the word.

Emma found a fantastic Facebook group of parents who are all dealing with children who have infantile spasms - there are over 500 members, coupled with the blog posts and other data shared by parents which emerges from a quick Google search. There seems to be a wealth of information available from some very knowledgeable parents.

It reminded me of some of the big data discussions I had earlier on this year. I think by combing all this already existing knowledge we can produce a fairly large collection of data.... with all these cases, and all these parents, how can there possibly be "no data" ?

Before going further with this I’d need to verify the cause of the lack of data, it would be good to speak to a researcher in this field first. My ex-boss told me that an old health related project had, the company had in the past made contact with Trinity College, and with Ian Robertson. It would be great if I could follow up with him. - That’s another task to put on the to do list.

Getting Matthew Home Again

Tuesday 17th September

Matthew and Ben are both sound asleep upstairs. Emma is recovering from a night spent in chair by drinking gallons of tea and catching up on the Great British Bake Off... I've just spent the last 5 minutes making baby bottles, and shaking them in the style of Tom Cruise from cocktail - no, there is no video of this, sorry. But next time...

...All seems right with the world. It's great to have Matthew home....

Under pressure - pushing down on me...

It was a very long night, but Matthew is now on an additional medication for his blood pressure, which appears to be under control. Emma spent the night camping in a hospital chair beside Matthew, she didn't get much sleep. It would be fair to say that Emma is currently doing a great Zombie impression. But it all seems to have paid off. Matthew is doing much better.

I got text messages from Emma at every blood pressure reading this morning. It was a series of steadily decreasing figures - all great news. His blood pressure continued to decrease to a relatively normal figure today.

Like wise the Doppler exam on his heart came back perfect! - Everything is spot on.

Medication Changes

The neurology team kept Mattie in until this afternoon to ensure that his blood pressure had stabilised. To get there though his whole prescription has been modified.

Accelerated Weaning

In addition to giving Mattie the blood pressure drug, the doctors have also accelerated his Prednisolone (steroid) weaning process. A side effect of Prednisolone is increased blood pressure, and Matthew has been on a lot of it. To give you some context, as an adult if we were prescribed a steroid it would be about 15mg per day. Matthew has been taking 40mg per day!

Hospitals are full of sick people - who knew?!

Another side effect of Prednisolone is a weakened immune system. Matthew will be able to catch bugs much more easily while he's taking the drug. As one of the doctors outlined to Emma today, being in a room full of sick people while on this drug is not a good thing - we're delighted to have Mattie back home.

Accelerate the Spasm Treatment

The goal of the steroids had been to try to address the Infantile Spasms. They haven't completely worked - we have seen a reduction on both the severity and frequency, but the spasms are still there. With their withdrawal the neurology team have increased Mattie's dose of Vigabatrin, the anti-epilepsy drug.

Happy Baby

Wow the "Cranky Baby Week" really has come to an end! - Emma reported that she couldn't get Matthew to relax and sleep last night he was all smiles and giggles, playing and using his hands. - That's something Emma and I are watching very closely. Infantile Spasms can produce developmental issues so we're constantly watching and noting his progress. This is why both Emma and I were delighted to have a playful non-sleeping baby.

Mattie's good mood seems to have carried through to today - he has been great craic today. Long may this continue!

Possible Spasm Reduction ???

In addition to all of this; the types of spasms that Mattie has been having have also changed over the last day. Instead of the full body jerk he originally presented with, we now have slight twitches, small jumps, and the odd weird eye movement. Over all these are less aggressive form of spasm - we're recording them all same though - just in case.

A tooth! - A tooth! My Kingdom for a tooth on steroids!

Matthew is delighted to be home.. complete with his new tooth!
Matthew is delighted to be home.. complete with his new tooth!

It arrived! The tooth fairy has delivered. We have a tooth! - Just a small one at the front, but it is here. Wow did Mattie earn that tooth. He really seems relieved to see it arrive too..

All in all

It's been a good day so far (touch wood).. let's hope this continues through to the weekend....

Matthew’s Back in Hospital

Back to Hospital

Monday 16th of September

The house feels empty and quite. Ben is in bed sleeping and I'm typing away in the study. No one else is here. Matthew is back in hospital and Emma is by his side. All down to a routine check-up, that wasn't that routine, and a small factor which started at his check-up last week...

Tuesday 10th of September (Check-up Last Week)

During Mattie’s check-up he had his blood pressure taken. It was 118/70, high and the nurse and doctor seemed concerned. It appeared higher than normal in the hospital when he was last admitted however this time it didn't seem much of a concern, so little of a concern in fact that I didn't mention it in my last note.

Spike of Spasms

Confusingly the start of the Vigabatrin seems to have resulted in Mattie having more Spasms, not less.

Matthew's Spasms and Medication Charted
Matthew's Spasms and Medication Charted

The Vigabatrin comes in sachets of 500mg, we’ve got to give him two doses of 200mg. Tuesday night we got our dilution calculations wrong and gave him 20% (1 fifth) and not 40% (2 fifths) we should have done. We corrected that for the next dose on Wednesday.

At the same time that we introduced the Vigabatrin we reduced the steroids. The increasing in spasms has gotten Emma and I both quite concerned; the steroid reduction wasn't significant enough to have resulted in the rise of spasms, so why has it happened?

Cranky Baby Week

The change in medication also heralded the start of "Cranky Baby Week". Ohh my word... Mattie would cry and scream almost constantly. As soon as we put him down he would start to cry. The crying sometimes marked the start of spasm cluster. With Ben, as I guess with a lot of babies, once we knew he was OK and that nothing was wrong we'd let him cry it out. But for Mattie with his spasms, we felt that that really wasn't fair.

To top it all off Matthew has continued to teeth like mad, with bright flushed cheeks, and his fingers almost constantly wedged into his mouth. Dummies last about 5 minutes before being spat out and the crying returns.

The crankiness continued from Wednesday all the way through to Saturday morning - none stop. Emma is a rock star and kept a brave face through it all but it really wasn't fun. - This really was Teething on Steroids.

Worried About Spasms

By Thursday afternoon Emma and I had grown very concerned about the increase in spasms, so much so that we decided to get in touch with the hospital.

Spasms Return in Intensity

Mattie back in hospital and not sleeping for Mummy - it's time to play!
Mattie back in hospital and not sleeping for Mummy - it's time to play!

Up to this point we had seen a drop in the spasms. The strong, intense spasms we saw before going to the hospital had vanished; they had been reduced to a spasm which looked more like a little startle, and we’re getting hard to spot. That was until the new treatment started.

By 10 am on Thursday morning we had noticed several individual (not clusters) of spasms, more than we saw before the change in medication. They were "full on" intense spasms, like the ones we saw before his medication started.

Could this rise in spasms be related to the Vigabatrin? Is it too early to tell?

11:21 AM - We’re worried enough to call Temple Street.

I got through to a registrar who works for another lead doctor, not the head of neurology we had been seeing. I explained what we’ve seen so far and the doctor on the phone explained that, that was not what they would expect to see. She is going to talk to someone on our doctor’s team. The doctor on the phone took down my telephone number, and thanked me for calling to let them know. Now we’ve just got to wait and see.

3pm (ish)

Got a call from a registrar from our normal doctor’s team in Temple Street. The long and short of it is that the new drug won’t cause the spasms. It seems that the steroids were not as effective as we hoped. The presence of spasms now suggests that the spike is coincidental. The reduction in the steroids so far isn’t enough to have caused the spasms to return either.

Trying to Introduce Normality

The spasms and grumpiness continued right through Friday and only let up a little on Saturday when we did a family trip to the zoo. It was great to get out of the house and try to do something normal as a family.

I think that Independently Emma and I had reached the same point. For me it came while washing and sterilising bottles, I looked down into the sink and realised I wasn't sterilising bottles any more - I was sterilising the syringes we use to give Mattie his medication. It was a very depressing though, I never thought I'd be putting more syringes in the steriliser than baby bottles. I found this upsetting. After feeling sorry for myself for at least a good 30 minutes I decided to give myself a good, mental kick up the arse. Being upset about it wasn't going to help anyone. With Ben's birthday coming up there was plenty to look forward to.

The trip to the zoo was a welcome reminder of normality. The trip also appears to have been a watershed moment for Mattie; his grumpiness seemed to reduce after this.

Small reductions in spasms and grumpiness continued over the weekend and by the time Mattie arrived at the hospital on Monday morning he was all smiles and giggles.

Emma and I were both looking forward to chatting with someone face to face about Mattie's spike in spasms and what has been causing it.

Monday 16th September

Mattie back in hospital and not sleeping for Mummy - it's time to play!
Mattie back in hospital and not sleeping for Mummy - it's time to play!

When Emma arrived at Template Street for the check-up she discovered that the consultant we are seeing was out on vacation and the registrar that we had been seeing was also out.

Emma and Mattie were only in for a check-up by one of the nurses so that wasn't a big deal. During the check-up the nurse took Mattie's blood pressure 4 times. It was high, very high - at one point 140/90. To put that in context a baby's systolic BP (the top figure) should be (usually) somewhere between 70 - 90. The nurse asked Emma to stay close to the hospital while she got hold of a doctor to check out Mattie’s stats.

Emma had planned to go out shopping for Ben's birthday in town anyway, so this worked well. The nurse said that they may want to see Mattie again after she had spoken to a doctor.

After about a week of a really, extremely cranky baby Mattie seemed to be in a much better mood today. He was playing and “goo-ing”.

The nurse explained to Emma that a side effect of the steroid (Prednisolone) is agitation and restlessness (cranky baby). But this side effect doesn’t hit straight away, it arrives after about two weeks of starting the medication. Apparently it catches a lot of parents by surprise. It’s nice to see that it has eased off a little.

Emma called me over lunch

I've just heard back from the hospital. They want me to bring Mattie back in. The nurse said that we should be prepared - they might need to admit him for observation while his blood pressure is so high, They want to see if his blood pressure as settled since we've been out and about.

Mattie's admitted

After returning to the hospital Mattie had his blood pressure checked again, it was still high, too high. Mattie was admitted and given medication to bring his blood pressure back down to normal. Additionally the doctors are looking and speeding up weaning process to get him off the Prednisolone (steroids) more quickly than we had originally expected. Then, just to confirm everything is OK Mattie is scheduled for a Doppler exam on his heart tomorrow. The Doppler exam should tell us if there has been any damage to his heart from the high blood pressure, of if, there is anything wrong with the blood flow which might be causing the higher blood pressure. The doctor's aren't expecting to find anything. I hope they don't either...

The EEG & Difficult Choices – Matthew and Infantile Spasms

Tuesday September 10th

The Neurology Check In - Temple Street Hosptial
The Neurology Check In - Temple Street Hosptial

Its Tuesday morning, this is a big morning. Mattie is due for his 2 week EEG. We're hoping for good news but suspecting Mattie will need some more help to kick his Infantile Spasms to touch. It's a disappointing thought considering all the great progress Mattie has made during his first week back home from hospital. We are worried too as from what we've read the next line of drugs can be particularly nasty.

The first two to three days back from hospital were hard, we had a teething and tired baby, Mattie didn't seem much better. But towards the end of the week we saw a dramatic improvement - we suspect that it’s not quite enough to prevent further treatment.

Chart of the total number of Infantile Spasms Mattie has had since hospital. The last two days are highlighted red and green. - Is there a pattern forming.
Chart of the total number of Infantile Spasms Mattie has had since hospital. The last two days are highlighted red and green. - Is there a pattern forming.

We've been recording and charting Mattie’s spasms, noting everything from a lurch through to a definitive "jerk". It was towards the end of the week, from Wednesday onwards as the spasms seemed to slow, that we saw the best improvement and the biggest leap.

Mattie's drugs for the day - Steroids and a Tummy stabiliser
Mattie's drugs for the day - Steroids and a Tummy stabiliser

It was harder than expected to get Mattie's dosage right. On two occasions Matthew spat up part of his steroids. The first time he did this we thought we'd let it lie - there was no way to know how much had had taken, and how much was still left to go. However when on Tuesday night, for the second night in a row he spat up we thought we should do something about it. Mattie had managed to spit up at least half of his dose; it covered his bib, so we called the hospital and asked for some advice.

We got through to the doctor on call for Neurology. The doctor advised us that we could give him another half dose. The doc also suggested mixing the diluted steroid tablets with a little flat 7-UP to take the bitterness away. The doc explained "Don't you know, flat 7-UP is an Irish cure for everything!" Unfortunately we didn't have 7-UP to hand, so we substituted dilatable juice. It worked wonders! - Medication delivered!

If Wednesday saw the first noticeable drop in spasms and clusters, then it was Thursday when we saw Mattie’s first big leap.

Looking back to Thursday 5th September

What a day, I worked from home today while Emma and Mattie hung out down stairs. Emma has in good spirits and with good reason too. Although Mattie had still had some spasms today he, it was as if he had a complete miracle week in a day! He was alert and bright and giggling with fun. About mid-morning I came down to the kitchen for a coffee to find Emma and Mattie both laughing away. Mattie was in his jumperoo and was bouncing! A first!

In the past we'd pop him in and he'd last 60 seconds max - before the crying would start. Now as I acted like a Muppet and was jumped up and down myself Mattie would giggle at me, then kicked his legs and start to copy my actions. It was so very good to see.

He didn't seem to have many spasms at all today - this looks good.

Emma: Thursday was the day that I noticed the biggest change in Matthew. LOTS of smiles and giggles! He found his voice....oh my goodness the ?oohs? and the ?aahhs? and the cooing coming from him was absolutely unbelievable! In addition he actually played in his jumperoo!!! Something he has NEVER really done, he happily played in it for about 30 minutes!! He also sat very sturdily and robustly in his bumbo - again something he had never done.

Looking back to Friday 6th September

Mattie was tired and cranky today, and I think he had more spasms today than he had yesterday. Yesterday Mattie appeared to make such a leap, but today his progress seemed to have been slowed a little, and depressingly the spasms are still with him. Emma and I are pretty much living in a state of constant hope; perhaps this will be "the day" - the day when the spasms stop and we don't see any at all. Then there is the crushing feeling when they do hit, especially after the good bit of progress he appeared to make yesterday. Objectively it is perhaps not that Mattie had a bad day, it was still better than when in the hospital, but that he didn't make it throughout the day without a spasm - that was something I think Emma and I were both hoping for after yesterday.

There is still cause for more hope. Emma’s father came back down to visit today. It was great to see him, and it was good to get his opinion of Mattie after his break away from him. Emma’s dad commented on how much more alert and with it Mattie seemed, and he still wasn't jumping at the sound of his voice, something he had done before being admitted to hospital - all good news.

After the disappointment of more spasms, today did manage to end on a really fantastic note. Emma has taken to reading Mattie a bed time story (when he's able for it). Tonight the story was Love Monster. He loves this book! - This story combined with his newly found voice, made for so much noise that Emma actually recorded it on her phone. I'd highly recommend a listen.

Tuesday September 10th - The EEG

Emma giving Mattie a bottle during his 2nd EEG
Emma giving Mattie a bottle during his 2nd EEG

I sit, watching Emma give Mattie a bottle. The room is cool and dark, all the ingredients for a good nap, which is exactly what Mattie needs right now. He's been all go this morning and the room is a welcome relief. The Neurology department is brimming with children and parents; a far cry from last week when we arrived to find a deserted department.

Preparing for today

Last night we started to prep for the EEG, just trying to read up on stuff before talking to the consultant about any further treatment, and wanting to quiz the doctors on the off chance that the EEG is OK, but the spasms remain - which is something that has been known to happen[1].

Emma has done a bucket load of fantastic research which she has started to catalogue and share. We've noticed a couple of things, first off each country appears to treat infantile spasms differently.

US v UK and Ireland

The treatment in both the US and the UK is to give steroids initially. However the types differ. In the USA they use ACTH which is injected into the child. In the UK and Ireland they use an orally administered synthetic steroid prednisolone. The latest research seems to show that the UK and Irish method is just as effective, if not more so, without the risks associated with injecting something. Emma's recent research indicates that the US is progressing toward the UK / Irish norm for first line treatment.

Ireland (or maybe just Mattie) v UK

There are differences between the treatment Mattie is receiving at the treatment recommended in the British Medical Journal. Basically the BMJ suggests that after 7 days the steroid dosage is reviewed; if the spasms are continuing or an EEG shows no marked improvement, then the steroid dose is increased to its maximum for the remaining week, before tapering it off. - Mattie didn't get this; instead he had a single flat level of steroids.


In Japan they often prescribe Pyridoxine (aka Vitamin B6). Which is interesting, because there is another blog Emma and I are following Baby Bradley and his Fight with Infantile Spasms and he too is taking B6, and has been in addition to ACTH.

Second Line Drugs

We've also started looking at potential second line drugs. Wow are those things strong, and wow to they have some potentially nasty side effects. One of the things Emma and I are keen to explore is, if the EEG isn't back to 100% normal (which it shouldn't be - given our observations) can we revisit the hormonal treatment, rather than moving on to the more aggressive and harder second line drugs?

Tuesday September 10th - EEG Progress

Removing Mathews "Digital Dreadlocks" after his EEG
Removing Mathews "Digital Dreadlocks" after his EEG

Back at the EEG, Mattie has still fast asleep when the EEG Operator who had been silent speaks:

The EEG Operator: How many spasms did he have yesterday?

Emma: Seven.

The EEG Operator: Is that the most he's had since starting his medication?

Emma: No, the least.

The EEG operator opens the blinds, letting the mid-morning sun shine into the room:

The EEG Operator: Let's wake up him, it will be good to see if anything unusual happens then.

Looking back to Monday 9th of September

I was in a meeting at work when the text arrived:

Bad News - More Infantile Spasms on Monday
Bad News - More Infantile Spasms on Monday

I had been hoping, so hoping that today would be the day. That he'd have one day without a spasm. But it doesn't look like it - and that's hard. Mattie got so lucky during his stay in hospital, he's in the rare 30% bucket with good prognosis, there is nothing else wrong with him, we appear to have caught it early. On top of this he's made such fantastic progress today.. everything was pointing in the right direction. It's pretty upsetting.

Mattie has been teething like mad today too. With some tiredness and crankiness which is probably a triple combination of teething, drugs and his Infantile Spasms.

Over all during the week he's made some amazing progress:
Emma: Something else that is VERY noticeable. We now have regular nap times again!! 🙂 Mattie will take about a 2-2.5hr nap in the mornings and a 1hr nap in the afternoon. But in between these naps he is awake and interacting! (also sometimes grouchy but thats ok). This is a HUGE difference, prior to his diagnosis even when up from naps he was dosing in his chair and his level of interaction was low. This is massively heartening to see 🙂

Tuesday September 10th - The EEG Results

After the EEG we get taken in to see the head of neurology. Sitting in his office we get the EEG results. If it was an exam we needed an "A"; we got a "C".

Emma and I were worried that the EEG would be all clear. We've seen and felt Mattie continue to have spasms and a clean EEG would mean that the doctors were not getting the same picture as us. The EEG wasn't clear.

The EEG showed a good improvement, perhaps as much as 60%/70%. But the hypsarrhythmia pattern remained present. This aligns with the spasm pattern Emma and I have witnessed.

The Risks

Infantile Spasms, by very definition, only happens in babies. The problem is that small changes to the brain now have huge impacts later on in life. The continuing hypsarrhythmia can have a huge impact. In terms of Mattie that impact can range from a slight learning problem - through to inability to sit unaided, the inability to read or do basic mathematics.

Today Emma and I have the chance to review Matthew's progress. He had tracked the developmental milestones for his age group up until 2 weeks before his hospital admission. During these two weeks his development slowed. Last week he made huge leaps and we feel he has caught up, but just not all the way.

The Head of Neurology's Office

We asked the head of Neurology what the outlook was for his Infantile Spasms. The conclusion was, without doing something it will not get better. It may plateau at this point, or it may reoccur. However all the time the spasms and hypsarrhythmia continues - and continues to alter his brain.

Sitting in the doctor’s office, and working with the head of Neurology we reviewed the options available to us. Importantly in the field of Infantile Spasms there is not enough data to answer many of the questions we had; in particular Emma and I had wanted to know if the steroids would work completely if we increased the dosage?
The head of neurology: There is no evidence that they would. The head of neurology recalled being an conferences where, at the same conference one person had stood on stage and said that the steroid dosage should be upped after the first week, and another had stood up to say if the steroids don't work after the first week - forget them and move on, don't waste the time "testing" theories.

The head of Neurology told us about Vigabatrin (also known by the brand name - Sabril), a second line drug which is used to treat Infantile Spasms. This drug has some long term, non-reversible side effects - it can be pretty nasty. In 30%-40% it causes permanent vision loss. The doctor explained that he had seen some cases without vision loss, and some who were unable to drive a car because of the vision loss. The risks to vision loss increase along with the dosage of the drug.

If Vigabatrin is prescribed and if it works Mattie will be on it for a year. Initially the dosage of Vigabatrin is low, and increases each week for four weeks until one dosage level is found which works, stopping the spasms. If no dosage level works, then we'll drop the drug and reassess the best way forward.

I asked about Vitamin B6, "What's with the Japanese prescribing B6?"
Well according to the doctor there are a wide range of epilepsy syndromes which benefit hugely from the introduction of B6. There however is no data to suggest that Infantile Spasms are one of them. As a vitamin supplement B6 has no significant side effects.

We distilled the options available to us:

  1. Increase the dosage of steroids
  2. Move to a second line drug Vigabatrin (Sabril)
  3. Introduce Vitamin B6

What we know:

  • Time is ticking and with every delay Mattie's outlook deteriorates.
  • Staying on the steroids is unlikely to help.
  • Vigabatrin has the next best chance of helping - but with a significant risk.
  • Vitamin B6 has no known side effects.

This left us evaluating the outcome of Infantile Spasms with and without Vigabatrin . - With and without the benefits, and the risks. In the end we decided, along with the doctor that having Mattie on Vigabatrin - stopping the spasms was the better way to go. The potential benefits - spasm free, and reduced learning difficulties outweighed the risk to his eye sight.

It was, and still feels like a very difficult decision to make. It makes it worse knowing that we're doing so in a field which is largely unknown, with limited concrete data to go on.

We also decided that since there is no risk to using Vitamin B6, that we should go head and use it.

Mattie's Drug Cocktail

Cocktail of Drugs: Matthew's new perscription
Cocktail of Drugs: Matthew's new perscription

Mattie is now ramping down on his steroids, ramping up on Vigabatrin, starting B6 and continuing his other drug to control the impact of his steroids on his tummy. The cocktail of drugs he's on appears to be pretty hard to come by. We ended up trying 5 pharmacies before eventually getting a pharmacy which didn't have what we needed, but could get it couriered to them before Mattie's next scheduled dose of drugs.

Physical Care

Emma asked about physical exercises we could do to help Mattie. There is a physiotherapy clinic in Temple Street. The head of neurology explained that they don't normally refer at this stage, but he'd be happy to - and effectively start Mattie early on this.

Keeping Positive

There are lots to be positive about. Mattie has responded well, just not well enough to the steroids. He was in a good place developmentally to start with, and we appear to have caught it early. As the consultant said, Mattie is a member of a group of people who suffer from Infantile Spasms. As such the average prognosis is not good. There is a subset of this group which do better - Mattie is in that group, but at the same time it is still a high risk group.

Fingers crossed the new drugs will work early at a low dose…

[1] "A standard EEG to evaluate interictal activity may miss the hypsarhythmia pattern, which can be variably present in an awake child, but is detected more sensitively in sleep." - | Back.

Home at last – Mattie and Infantile Spasms (Part 5)

Friday 30th of August – Saturday 31st of August

Friday 30th August

I spent Thursday night in the hospital with Mattie, and Emma eventually got some rest at home – but not until she’d spent hours sending photos of Mattie to friends and family from her phone.

The ward was quiet on Thursday night, even so, Mattie has a restless night. He woke and had a cluster of spasms at midnight, 1am, 3am and then was awake and in great form playing from about 3:30 until 4am. He woke again at 5am, and eventually at 5:30am I gave in and gave him a bottle of milk. He was in great form in the morning and I got some wonderful smiles from him. He had breakfast and at 8:30 he had another set of spasms. Mattie got sleepy, as he does after a cluster of spasms and started to dose in my arm.

It was just a waiting game now until we got called for the optometry appointment.

The Consultant

The consultant who had admitted Mattie on Monday came down to visit. The consultant was in a great mood and was checking that Mattie was now firmly in the hands of the Neurology team. The consultant explained that there was much to be pleased with, Mattie had given some good results so far. The MRI showed no physical cause - this means that Mattie has "Crytogenic Infantile Spasms", the rare form, but the form which as the better prognosis. - Mattie got lucky!!

The Long Lost Smiles are Back!

The Consultant asked how Mattie seemed. I explained that we've got something we didn't know we'd missed... smiles. I had got some great smiles in the morning and Emma had the day before, and it's crazy because even though Emma had told me, it was when I saw Mattie smile that it struck me that we hadn't got many of those over the last couple of weeks. What a joy it was to seem them, it was like Mattie had had a little "wonder week" all to himself.

After the consultant left Mattie woke and was grumpy. I have him another bottle of milk and he settled again and fell asleep. He slept most of the morning until a doctor from neurology came down to visit.


A doctor from the Neurology team came down to see us next. The Doc asked how I felt about taking Mattie home today - it was impossible to hide a smile, "delighted". I asked about the side effects of the steroids. Mattie's course of steroids overlap with Emma's expected return to work, and her (currently) scheduled Jury Service. I explained that this would mean Mattie going to crèche before the end of his steroids. The Doctor said we should avoid that if at all possible. Following Doc’s advice Emma has been working out the best way of extending her Maternity leave. She's going to call her boss and explain the situation to him next week.

The Doctor asked how Mattie was getting on, I replied with the same update I'd given the consultant but added that Mattie had been asleep a lot this morning. The Doc looked a little concerned, but didn't say anything about it.

Mattie was now asleep in his hospital cot and the nurse appeared to take his blood pressure, wrapping the cuff around his leg rather woke him up and he cried. The nurse explained that Mattie's blood pressure was high, but it could be because he was upset and she'd come back later to check. Mattie settled and slept on for another hour or so. The nurse returned and as he woke I picked him up and had him in my arms, she checked his blood pressure and again it was high, perhaps it was the wrong sized cuff, she replaced the cuff and we tried again. No mistaking it now, Mattie's blood pressure is up.

Still asleep I returned him to his cot. He slept on.

I started chatting to the nurses and in the course of the conversation I explained that Emma was heading to Ikea this morning for a new cot. Both Emma and I had noticed that Mattie as enjoying “star-fishing” in his hospital cot. The crib he was sleeping in at home was just too narrow for him now. We’d been hoping that Ben would have transition to his toddler bed, but he isn’t quite there yet. So it’s definitely time to replace Matthew’s cib, and nothing for it but purchasing him his very own new cot.

The nurse commented that, in a few months that this would leave us with both an empty cot and an empty crib.

“There is only one thing for that now” she said, “you’ll have to have another baby to fill the empty beds!”

“Ha!” I replied, “I’ve mentioned a 3rd baby to Emma before, you should see the panicked expression on her face!”

Getting late and Getting Worried

Chris and Mattie in Hospital on the last morning - trying hard to get some smiles from a tired baby
Chris and Mattie in Hospital on the last morning - trying hard to get some smiles from a tired baby

It was getting late, going on for 12:30 and Mattie had been asleep from 8:30, he was sleeping through all the hustle and bustle of a busy ward's morning routine and hadn't really woken. He should be getting hungry as he was late for his normal lunch time. I picked him up and tried to coax him awake, after 10 minutes he looked at me, his head lolled forward and his eyes rolled - he feel back asleep. With this plus his high blood pressure I started getting worried.

Am I being an anxious parent, or is this something serious? - Well I didn't think the jerks we saw before Monday were anything to worry about, and I couldn't have been more wrong. After calling Emma and double checking his lunch time, I grabbed a nurse and explained. The doctor was called.

As I returned from the nurses’ station Mattie woke up - and was starving.... little cute bugger, but after his bottle he fell back asleep.

Still Learning

I’ve started telling other people about Mattie’s condition, when I explain that he has epilepsy I get a “Oh, ok” response. But when I explain what I’ve learnt this week, and how it can impact on a babies development then their reaction changes. When I first heard of Mattie’s diagnosis I thought about the “fits” that you hear about, and occasionally seen portrayed on TV shows. But an infantile spasm is not like that at all. It’s quite subtle, but it’s what’s going on that we can’t see which is quiet frightening.

The Optometry Appointment

Just as Emma arrived in the early afternoon we were called for our optometry appointment. We all exited the ward via a secluded entrance at what we thought was a dead end of the ward; Temple Street really is like Hogwarts, or at least the house from “Cludo” with all of its hidden passages and shortcuts.

Mattie as given the once over by the optometrist and then given eye drops to dilate his pupils. We now had a 30 minute wait before the examination started in earnest. Mattie started to have a few single spasms, but seemed ok.

After the long night I was struggling so I took the opportunity to head home and freshen up. Just as I pulled up outside the house my phone rang it was Emma.

"You have to come back for us, we're going home!"

The optimist had found two perfect eyes with all nerve endings intact and functional. There was nothing wrong. Shortly after this Emma had met with a doctor from neurology who gave us the update from the MRI, the final written update has said Mattie was normal; we were free to take Mattie home!

Thank You Temple Street!

Emma had got the nurses on the ward some fresh baked goods and a thank you card - as I mentioned in a previous post they were simply amazing. The staff at Temple Street are brilliant, there is so much care and thoughtfulness from everyone, consultants, doctors, nurses, even other members of staff that I bumped into in the hallways. So it was so very nice to say thank you in some way.

Emma drove us all home and during the drive she told me about a conversation she had with one of the nurses on the ward.

“I hear your buying a new cot today” the nurse had said to Emma

“Yes, Matthew’s been star fishing in his hospital cot – definitely time to upgrade”

“Oh there is nothing for it then – you’ll have start working on two more babies to fill the empty cots that that will leave behind!” said the nurse.

“I must have given her a funny look” Emma said “because she looked at me for a second, then said ‘Yes, your husband said you’d have that expression’”.

Emma’s sister had collected Ben from crèche. Ben has known something was wrong, he's been great though - but very, very clingy; hugging legs, not wanting us out of line of sight etc. He has known something was up. Ben was very surprised when I turned up at my sister in law’s front door, quickly followed by Mattie and Emma!

We grabbed a quick cup of tea at as it gave us time to give Mattie his dinner and fill Emma’s sister and brother in law in on the days updates. Unfortunately Mattie has another cluster of spasms as Emma was trying to feed him.

We got home, and Emma hit the Ikea flat packs with force. I hung out with the two boys, Mattie falling asleep on top of me, and Ben sitting with treats watching "Despicable Me" on TV.

One of our neighbours popped over with a little bag with a gift and a get well card for Mattie in it. It was a lovely gesture.

After 45 minutes Emma was done with her handy work and Mattie was safely ensconced in his new bed.

Myself and Ben took this as an opportunity to hit the local Pharmacies to pick up Mattie's prescription, it was getting late and the first Pharmacy we called to didn't have the drugs in stock. Luckily the pharmacist was able to call around the other pharmacies in the town and we got one with all we needed.

We're out of the woods, but we've a valley to traverse

We are now all set, we've just got to wait until September the 10th for Mattie’s next EEG. So far we've got lucky. From the initial shock and confusion of Monday through the battery of tests, and trying hard to get up to speed on something you know nothing about, and about which the doctors seem reluctant to explain to now. It is like stumbling out of a thicket of trees into the open. We can now see a path in front of us. It's across a valley, we can see the track for the next 10 days, but after that it vanishes.

Saturday Morning – 31st of August

I don’t think Ben knew what hit him – breakfast with the entire family around the table. It was great to have everyone back at home. Ben was all smiles, I think the last week has been tough on him too. It must have been weird for him. I know it was weird for us too.

Home at last! - Emma, Ben and Mattie enjoying breakfast together for the first time since Mattie was admitted to hospital.
Home at last! - Emma, Ben and Mattie enjoying breakfast together for the first time since Mattie was admitted to hospital.

Saturday Evening.

Emma and I have our fingers crossed that the steroids will kick in work well for Mattie, but as the doctors explained this is very subjective and each individual has a different reaction. We won't know until the EEG. There is a correlation between the EEG and the spasms, so we're still recording everyone he has - he had a big cluster tonight around bed time. I understand why the doctors are reluctant to explain the details to us; when the clusters hit they can be frightening for Mattie, but knowing what they are and their repercussions it also scares the crap out Emma and I.

Mattie has done great so far, as long as he stays well on the steroids his next battle is seeing how they have affected his EEG. And we won't know that until September 10th.

As we're now entering a longer stretch - fingers crossed we will not have anything major to report until the next EEG, I'll reduce the volume of emails for now. I'll be back in touch to let you know how the EEG goes, and Emma and I are still logging Mattie’s spasms.

A Very Big Thank You

Emma and I have been so very grateful to you all. Writing these notes has given us a way of structuring so much information, and so many things have happened that - at times it's been extremely confusing and to be frank, very frightening.

Your responses and encouragement have helped hugely. Emma and I are really very thankful to have such a great bunch of family and friends. Emma and I hope that any other parents dealing with Infantile Spasms who read these notes will get as much comfort from them as we did from you guys.

Thank you all!

Emma and I will set up an Infantile Spasms Crib Sheet on this blog with details on useful links and publications, other web sites, stories and information. We’ll try to add to this as we go along.

Preliminary MRI Results – Mattie and Infantile Spasms (Part 4)

Catching up

I am trying to translate all my notes and recollections from last week into readable blog posts for you all as quickly as possible.

Being Cautious

Everyone likes to hope for the best, but a recent experience, which I don’t feel I can share publically here, made Emma and I vow to each other to not count our chickens before they hatch, no matter what result we get from a test, we’ll wait to see the final report.

Thursday 29th August 2013

It is late on the ward. I'm taking the night watch, and Emma should be asleep at home and recovering from doing three nights back to back. She isn't. I know this as my phone is buzzing with images and SMSs - I even got an SMS which said "I'm off to bed". Two minutes later it's followed by a photo of Mattie Emma taken earlier in the day. We're both tentatively relieved by the news we received today.

Thursday 29th August - 9am

I spoke to our crèche today. Mattie was due to start with the crèche at the end of September as Emma is due to return to work. This unfortunately overlaps with his steroid treatment, and assuming the best case outcome (he'll be home and better with no spasms) he'll be starting a little later. I needed to check if our crèche will take a baby with epilepsy, I know that not all do. Even if he's better, there is a chance that he'll have another spasm, and they'd need to be prepared for that.

Our crèche is also changing hands. It's the same crèche Mattie's brother Ben goes to, so we've known it now for over a year. The owner is retiring and she's selling on the crèche. I spoke to one of the assistants at the crèche who said there was no problem with a delay in starting, but she didn't know about taking on babies with epilepsy. We'd have to wait and speak to the new owner.

In other news, which I've not mentioned yet - Emma got called up for jury duty in October, the letter arrived on Monday. Epic timing. Maybe, unlike when we were burgled, we could claim for that on the home insurance?

Thursday 29th August - 10:45am

The phone rings, it's Emma; Mattie is out of the MRI. Everything went well. Mattie was sedated for the imaging. He moved once or twice, but they got everything they needed. Now comes the big long wait to see the doctor in charge of Mattie’s case and getting the results. – I’ve nothing to report yet.

I spoke to my boss at work, who has been great. I cancelled my work trip to the UK next week. I don't think, even if everything goes really well, that I would be giving anyone 100%.

Thursday 29th August - 3:30pm

I arrive on to the ward, just in time to see the doctor who is in charge of Mattie’s case leave. Emma quickly updates me on what was said. The MRI showed nothing which would be causing the Infantile Spasms he is experiencing. It may show something else. But we won't know until the final results are provided. These are due at some point tomorrow I think. The good news is that we're on track to head home tomorrow. Something we're all looking forward to.

Mattie will be returning to the hospital every Monday for the foreseeable future for a check-up. Initially this is to gauge the impact of the steroids. It can affect blood sugar and if there is type 2 diabetes in the family (there is) it increases the risk, blood pressure and of course his immune system. The original plan had been to have the public health nurse from Balbriggan check on us at home, but they don't have the equipment to take a babies blood pressure. So instead we'll need to report back to the neurology department here in Temple Street. Emma was thankful for this as it also means that each week we'll have the opportunity to check in on any developments we see with Matthew, and ask questions of the neurology team which the public health nurse wouldn't be able to help us with.

The doctor explained that the steroid dosage he is on at the moment is very high, so high that some pharmacies would question it, even going so far as to ask about mal-practice. But this very high dosage is based on research which indicates that it helps. It also explains why the dosage is just for two weeks and then tails off with a four week ramp down. There is no guarantee it will help. The doctor explained that the process of finding the right drug combination for Matthew could take months or even years to get right. In the mean time we can only hope that he doesn't regress.

The good news is that Mattie has a lot going for him. He is healthy, he's developed normally up to this point. These are good portents. We've got more work to go, but our starting place is much better than many others.

After talking to Emma, I felt that it was obvious that the doctor had not given Mattie’s MRI a clean bill of health yet. Emma recalled that the doctor had said that (I'm obviously paraphrasing a second hand quote) … other neurologist may see that certain areas of the brain that might not be as they should be, but when I looked at it there was nothing on it which would be causing the severe spasms he is experiencing. . .

Thursday 29th August - 9:45pm

The ward is quiet, but a new baby on the ward has just woken and got scared. Her parents had just left for a bite to eat and she was alone. The nurses have called back the parents and are doing their best to settle the little one. Mattie stirs, but appears to be remaining asleep - which is good. Obviously my typing beside him isn't waking him up. The nurse comes over and attaches the blood oxygen monitor to his toe. This too fails to wake him.

Mattie in "Good Form"

Mattie has been in good form when awake. Emma told me she got smiles and giggles from him which was fantastic. In fact the images which have just arrived on my phone show a fantastic smile from both of them:

Photo of @emmawoods and Mattie - both smiling after the MRI scan
Mattie and Emma - all smiles after the MRI

The clusters of spasms are still happening

Right now however it is good to see him sleep so well. He woke 45 minutes ago and had another cluster of spasms, which lasted about 8 minutes, but wasn't has violent as they have been. Compared to the beginning of the week they seem to be changing. He's having just one isolated spasm at times, and what feel like longer gaps until a full on cluster of spasms strikes. The steroids should have kicked in by now. The doctor explained that they will look at him again in two weeks. They are treating the EEG not the spasms. The changing nature of the spasms could indicate a change in the EEG pattern, but we will not know until Mattie’s next EEG - and that's going to happen a week on Tuesday (September 10th). In the meantime all we can do is hope. Fingers crossed that over the next week the seizures wrap up - I sense that we really should be seeing something like that by now. But I don't know. . . I’m no expert. . .

This is most definitely a marathon, not a sprint no matter how affective the drugs have been.

Good Signs

What we have seen today are smiles, and more smiles from Mattie in one day than we've seen in a long long time. That too could just be a side effect of the steroids, but it is very pleasant to see.

Sharing our learning and experiences

Both Emma and I, and you guys reading these missives have learnt so much over the last couple of days; new phrases and terminology, new friends, and other parents. We've had the reality checks - even if we got (or get) the most negative news, that we have ultimately been extremely lucky. We've come so far from the confusion and shock of Monday. I'd like in my way to do something to help other parents who will find themselves in this position too. Catching the spasms early is so very important, and they are so easy to confusion with other ailments. Perhaps we could share some of the videos of Mattie’s Spasms and the (edited) contents of our notes on line? - Anything really that others can stumble across and that will help them.


Tomorrow morning Matthew has an appointment with an optometrist. According to my own research the condition has is also linked to limited vision, or Cortical Visual Impairment. Basically there is nothing wrong with the eyes physically, an issue with the brain is impairing the comprehension and affectively the meaning of the images the eye is capturing. - This sounds like what my father; a stroke survivor is currently suffering from.

Googling “Infantile Spasms and Optometry” (I know I shouldn't, but I avoided the crap and stayed with the academic papers on it) suggests that CVI is very common among children with Mattie’s condition, and rather depressingly the prognosis for those children's vision is also not as good as other children. If he has CVI - then it may improve, but he'll never have the full vision most of us enjoy. Fingers crossed...

After the optometrist appointment, assuming the official MRI results don't show anything, and the vision tests go well, then tomorrow Mattie will be able to return home to us. Now that's a Friday I'm really looking forward to - I just wish I could remove all the "if"s from the last sentence.

The ward is quiet now. The only sounds are my typing, the occasional footsteps from the nurses as they do their rounds, and of course the deep breathing coming out of Mattie as he sleeps.

The “Mummy Card”, Mattie and Infantile Spasms (Part 3)

Wednesday 28th August 2013 - 10:25pm, Home.

Emma is once again with Mattie. We got news today that his MRI is scheduled for tomorrow morning. As a young baby this will mean sedating him, to do this he needs an empty tummy.

Apparently the low quantity of the sedative they use has one of two affects, it will either put him to sleep, or it will have the opposite affect and make him go hyper and a little wacky. To give the sedative its best shot at working Mattie should be tired too. So the plan for the morning is to wake Mattie at around 3:40am, so he can have a bottle before the four hour cut off before sedatives. He will then have to be up for the day 5:30 / 6am. His MRI is around 8, but the first, preliminary and verbal results won't be available until tomorrow afternoon. The final results should come through after that.

Mattie was in a much better mood today, we got smiles and giggles from him, and at least the nurses were not taking blood samples from him today, they did that yesterday.

I had agreed with Emma that I would do a night time hospital stay with Matthew, but when we got the news that the MRI would be first thing tomorrow morning Emma, in her own words “played the Mummy card” and decided to stay. I honestly can’t blame her.

Infantile Spasms

Mattie has "Infantile Spasms". It is labelled a catastrophic neurological condition. In the majority of cases it causes mental impairment. Most children will not develop at the expected rate, and will go on to have issues in later life. Catching it early, treating it before any regression in development makes a huge difference to the eventual outlook. What Mattie has going for him is that:

  • It was caught early (6 months is relatively early)
  • His development appears to be more or less on track; Emma says the last few weeks appear to be a bit slower
  • The dermatology scan was normal and for all intents and purposes he is a healthy 6 month old

The Growing Neurology Team

The Neurology team at Temple Street is bigger than we’d realised. Along with the doctors we’ve met so far this week there are also social workers and nurses. Today we were introduced to both.

Neurological Social Worker

We met with one of the social workers; it is their job to help us to adjust to the new reality of Mattie's condition. As Mattie has a long term condition he qualifies for some additional state funding for his treatment, we've bunch of paperwork to complete for this. The social worker also took some time out to ask us how we were feeling, and coping with it all. I appreciated this; it was nice to be honest and frank with someone, and just explain what Emma and I were feeling at the time.

Emma and I both realise we ask questions about Mattie’s prognosis or outlook that it’s impossible for the doctors to predict at this stage. But knowing the condition and the data about it would really help us - as non-medical people - in understanding what we are all up against.

Emma said "We're both engineers, we like the facts that the figures, we can deal with the uncertainty, just tell us". The phrase "I'm an engineer" seemed to strike a bit of fear with the social worker replied with "Oh god. OHhh..kay". Emma went on to explain that she works on and builds medical equipment, and while not neurology equipment, getting up to speed with the condition Mattie has certainly isn't in a challenge - just tell us. I’m not sure if it was an approach they see that often. The social worker explained that each doctor has their own style and that some of them can be rather brutally honest. I think the honest truth is that Emma and I actually found that refreshing, and comforting in a weird way.

Finally the social worker recommended that we avoid Google for information as it wasn't always reliable, and tended to be rather pessimistic. – I think, especially for Emma that this advice had arrived a little too late.

Neurology Nurse

Directly after chatting to the social worker we walked from the ward up to the neurology department to talk to one of the nurses. This being the maze of old buildings which is Temple Street we needed a guide to get us there. Even the signage inside the hospital reminds you of the older Irish road signs; 'Neurology is that way' points a sign. Following its direction you reach a junction, with no more signs for Neurology. It's more a general guidance than anything you can actually navigate by.

One of the nurses met us at Neurology and we sat in a private, side room for a chat. Mattie was with us and on the way up to Neurology he started having a spasm. It was a bad one. When they hit, he can cry out. Emma and I have taken to holding him to comfort him and his whole body rocks with the spasms. He'll hold your hand and either through spasm or reflex he grips you so very hard when they come. Afterwards, when they are really bad he'll cry. Yesterday I tried to put him down on his cot when one hit. Immediately after one hit him he looked at me with such fear and panic in his eyes, that the only thing I could do is pick him up and hold him, try to sooth him through it. This was exactly what Emma was doing as we sat today talking to the Neurology Nurse.

Emboldened by our conversation with social worker, Emma's opening gambit was an explanation of our backgrounds. The "I'm an engineer" line had roughly the same effect on the nurse as it did on the social worker. "Ohhh God.". We started out by asking form background information on Mattie’s condition; can you give us some recommended reading?

The nurses’ first response was - Whatever you do, don't Google it. (whoops too late).

My recollected and paraphrased conversation with the nurse follows:

Us: So do you have any recommended reading we could do? - Is there a book?

Nurse: No. There is no book. The research is still evolving.

Us: Do you have anything we could read? - If we were going to start out researching this condition where would I start?

Nurse: Erm, Googling "Infantile Spasms for parents" (giggle).. (pause) Well I do have this, which I got from Google; Understanding Infantile Spasms

The Understanding Infantile Spasms link is one Emma had already found, I've subsequently read it too. It's pretty good, and doesn't take long to fly through. - I'd recommend it if you were interested.

The nurse did tell us that the condition “Infantile Spasms” used to be referred to as "West Syndrome"

What the EEG showed

The nurse mentioned that the EEG gives them so much information, so I asked what did it actually show?

Mattie has Infantile Spasms. The old name for this is West Syndrome. It is diagnosed by an EEG. Not just the physical presence of the spasms. If the EEG shows a "hypsarrhythmia” - then that is Infantile Spasms. Mattie’s EEG on Monday showed a modified hypsarrhythmia pattern. I asked in what way was it modified, was it more aggressive, or less? - She didn't know. Just that it was modified.

Prolonged presence of hypsarrhythmia will cause developmental delays and cognitive development issues. The purpose of the MRI is to ensure that there is no underlying physical issue for Matthew’s hypsarrhythmia. In 30% of cases no underlying cause is identified, this is known as a cryptogenic case. From the EEG the neurological team seem hopeful that the MRI will not show anything, hence boosting the chances of a successful outcome for Matthew.

Side effects of the drugs: Steroids and Immunosuppressants

Mattie is on a very large dose of Steroids. They do have some side effects. He's going to each a bucket load more, he'll put on weight, his tummy will be upset and he'll be grumpy. More importantly it can affect blood pressure and if there is diabetes in the family (which there is, from my side ) then it can trigger issues there too. A more immediate concern is the impact to Mattie’s immune system – in short it will take an absolute hammering. We've to avoid anyone with a cough / cold / dodgy tummy / chicken-pox etc. Basically anything we would have let Ben just deal with, we can't with Mattie. If he develops anything like that we need to take him to the GP straight away or take him to A&E in Temple Street.

The 6 weeks run straight over and into Emma's return from maternity leave, which we may need to extend. It also raised a question for us; will our crèche actually accept a baby with this form of epilepsy?

Matthew trying to sleep in hospital
Matthew trying to sleep in hospital

Mattie will be on the steroids for 6 weeks, 2 weeks of aggressive dosage then 4 weeks to wean him of them. His entire system will be hooked on them and basically stopping the steroids directly will affect his whole metabolism. It wouldn't be a good thing at all.

Assuming that the steroids don't work - there is an internationally agreed list of drugs which are then attempted, one at a time and at varying levels of intensity. With all possible level of intensity attempted before moving to a new drug. - This can be a long process.

Treatment - assuming no root cause

The key to treating infantile spasms is to treat the EEG. If the EEG returns to normal then spasms should also go and he'll return to normal. In the mean time we'll be doing a bucket load of EEGs.

If on the very rare chance that the Steroids do work first time, and if the MRI comes back clear and if his blood tests come back OK, then once the six week course of drugs has completed Mattie could go on almost normally with no additional treatment required. He will have continual monitoring however as a precaution. - But there are a lot of "if"s in that statement.

With all of the above comes such a huge sense of disbelieve. It's hard to believe that Mattie could be so ill - he just looks physically so well. But he's in Temple street for a reason, and while the potent ‘so far so good’ stands, and with the neurology team and everyone writing and reading this rooting for him, the published odds are not so good. It’s hard to imagine, and even harder to articulate, but if you were putting money on him to come out all clear, you'd probably lose it.

Tomorrow is going to be a long, hard tough day. The signs so far are good. But I know Emma and I are trying hard not to count our chickens yet. We'll be waiting for the final MRI results first.

PS: We're no experts; a small reminder

We're not experts in Infantile Spasms, we're learning. If you work in this field, or have been through this before and believe that some of the information in any of these stories is not completely accurate, then please - leave a comment and let me know. I'd only be too happy to correct.

Why are we sharing Mattie’s story?

Emma (@emmawoods) and I (@mcwoods) have learnt a lot about Infantile Spasms over the last week. We are by no means experts - this is just something we’re working through at the moment. What we did learn is that the prognosis for children with Infantile Spasms increases dramatically with early treatment and hence early diagnosis. Unfortunately diagnosing Infantile Spasms can be very hard. To us parents it can look like something innocuous; “he’s sleepy, his head is too heavy” to “it’s colic”. Then even once the diagnosis has been made we had a steep learning curve – what is it? What are its impacts? It was, and still is confusing. About half way through last week Emma and I both realised that if we were struggling with this, then other parents probably will do to.

We asked for some recommended reading from the hospital, and there didn’t seem to be any. The truth is in this day and age – we all google (or occasionally bing / yahoo). Our hope that is that if someone stumbles across these blog posts that they will provide them with comfort, forewarning, and hopefully some help to gain all the new knowledge they’ll need when speaking to their doctor about this.

During the course of last week I started making notes. I sat down in the evening and tried to make sense of the day’s events. With Grandparents, Godparents, family and friends all asking for updates I decided to share my notes. Just writing the notes was a cathartic process for me, but the feedback both Emma and I got from friends and family, and the positive reaction to the notes really blew us away. It was such a comfort.

I’m sharing all of these notes on this blog. I hope to have the blog up to date by the end of the week.

I’m removing the names of the doctors and the nurses, I don’t think I could / should write about them publicly without checking with them first, and of course in all the commotion last week that was the last thing on my mind.

We both hope you all find these posts useful.

Infantile Spasms and Matthew (Part 2)

Tuesday 27th of August 2013 - 8:45pm, Temple Street Children’s Hospital

Mattie is a sleep. At last. It’s great to see him at peace. The last few hours, his normal bed time, have been hard. His last sleep was around 3pm, and the ward is very noisy around his normal bed time. It’s when he is tired that his spasms hit. They are particularly common just as he is waking from a deep sleep, or is restless and can't sleep. To top it all off the steroids he's been prescribed have started to take effect, the first impact has been his increased appetite - he's eaten loads and early. Then he started teething, poor we guy. His cheeks where flying off him the nurses have been fantastic, they are very observant and right to hand whenever you need them - they are so good it’s almost spooky. But they came over and gave him some calpol. That helped a lot.

As I’m sure you all know, Mattie was admitted to hospital following a meeting with a consultant yesterday. It took Emma and I by surprise. Mattie had been experiencing spasms, he’d throw is head forward. At first we thought it was just a muscle development thing, perhaps his neck and upper body had not developed enough to keep him upright for long? But when we started to notice his eye’s rolling in his head, just before the action took place we decided to get it checked out. Emma had recorded some of the spasms in her iPhone and was able to show it to the consultant. Within 3 hours a bed was found on a ward, Mattie was admitted, a letter sent to our family GP, an EEG performed, the results analysed and he’d been started on a course of steroids, with an MRI tentatively scheduled in a few days.

It caught Emma and I on the hop; I think we both half expected the consultant to tell us we were worrying over nothing.

Emma stayed with Matthew last night. Emma's sister collected Ben from crèche and I was home in time to do bedtime with Ben before swapping; Emma's sister baby sat and I was able to visit Emma and Mattie in hospital. Emma did the first night with Matthew and then we swapped this afternoon.

After Emma left Matthew woke almost immediately, typically – just as I’d left his bedside to visit the loo! He was grumpy when I got back and was in the middle of a spasm attack.

The spasms come in waves. We’re keeping a record of them on a log sheet for the ward. This helps to see if the steroids he’s on are having an effect. They normally last about 8 minutes, during which he’d have lurching like behaviour, throwing his head forward if sitting. When lying down he’ll kick is legs into the air. They can upset him and he’ll cry during them.

Trip to Dermatology

Matthew had a trip to the dermatology department. He’s suffering from eczema, always has done. But apparently skin abnormalities can be indicators of what’s wrong with him. We walked through the maze of corridors which is the hospital. They all seemed to be heated to the same temperature as any public swimming pool (roasting), with the exception of one room – the dermatology room.

The dermatology examination, which consisted of shining a UV light (Black light for the American’s – I think) over his skin in a dark cool room, revealed one thing; Mattie loves UV lights and cool dark rooms – he was almost asleep. Nothing untoward was found. He’s a follow on appointment in 6 months’ time just to check up on him and any possible changes.

While walking back the ward we passed the Temple Street School, it’s a full Department of Education school, currently shut for the summer, it opens next week. There is no escape from homework even when you are ill. Well at least Matthew has a couple of years yet before he has to worry about that.

Neurology Visit

One of the doctors from Neurology came down to visit and asked how he was doing. I had a bunch of questions. I wanted to know what the EEG showed, was there anything additional they could infer from it? The doctor said it showed increased electrical activity. That Mattie's brain wasn't returning to a normal rhythm at all, even without the seizures. They were looking to get that 'baseline' down to normal. The steroids would do that. I asked if it was epilepsy? The doctor said 'no' but it was in the same category. I asked if it was like the traditional version, with an electrical storm over the brain which then passes from one side of the brain to the other. The doctor said no. 'It’s very complicated',  - That was a very frustrating answer, I had to try to check my response. I know its complicated, I'm trying my best to understand it. I felt myself wishing there was some recommended reading on this.

The doctor went on to explain that based on what they'd seen in the EEG they didn't expect to see anything in the MRI, but wanted to do it rule anything else out. Finally the doctor tried to reassure me that they had seen a little girl recently who was 9 months old who suffered from the same condition. The little girl had reacted well to the steroids and now was basically normal.

Visit from all of Neurology

The Doctor in charge of Mattie's case came down to visit. Along with this doctor came every other doctor from Neurology I'd ever seen before.. Wow. The group descended on the bed. I'd just put Mattie down, hoping he'd sleep - obviously that wasn't going to happen now.

Matthew asleep in Temple Street Hospital
Matthew asleep in Temple Street Hospital

The Doctor asked if everything had been explained to me. I said yes, I think so, but there is a lot to take it - it was a shock to have Mattie admitted yesterday. I'd appreciate an explanation.

The Doctor explained again what was in the EEG. That this was typical of this type of condition. Almost classic. It's something they watch out for in this age range. The pattern it showed was fairly typical. He's smack bang in the middle of what they would expect for this condition. He's 100% on that. This Doctor said it was a form of epilepsy.

The Doctor said the plan is to try to control the spasms with steroids. They try to nip it in the bud at this early age, It is treated fairly aggressively. They are concerned that continuing to let them go on will have a long term effect on his development. The steroid treatment will last for 2 weeks. No conclusions will be reached before the end of the two week period. If it is controlled within two weeks and the steroids are working then they will look to wean him off them for a following couple of weeks. Then continue to monitor. There are a team of nurses and experts on hand who can help. This includes a telephone help line.

During the conversation The Doctor asked to see the videos we have of Matthew, unfortunately they are only Emma’s phone, not mine.

At this point I had an opportunity to ask a few questions.

Infantile Spasms & Long Term

I first asked about the long term impact. Is this a condition Mattie will have to live with for the rest of his life? - With on going treatment?

The Doctor: It's too early to tell for Mattie. That will become clear over the coming months. There are generalities which I can explain, but obviously you'd like to know what's going to happen with this chap? (Point’s at Mattie).

Me: 'Yes, I would. But the generalities would help - it would be good to understand the ball park - assuming the MRI doesn't show anything.'

The Doctor : Well there are children who go on to have learning difficulties, and need assistance, who we continue to see on a repeated basis as we go forward. We do see those cases.

There are children for whom the steroids don't work, and they have learning difficulties and need additional help.

There are children for whom the steroids work very well. They may have some slow development, and learning difficulties.

We see everything in between.

Infantile Spasms & Short Term

I was keen to understand, as much from a personal planning point of view, as anything else how long Matthew will be in hospital. The Doctor explained that Mattie will be in until Friday, They don't want to keep him in beyond the weekend. The Doctor is keeping him in to ensure an appointment for the MRI. In the past the steroids were taken via injection and we’d have to train the do parents to do the injection. But now the drugs are orally administrated mixture which can be taken at home. But access to in house facilities is quicker as someone on a ward; an MRI for an outpatient takes much longer. So if it means staying in hospital for an extra day to get the MRI then The Doctor recommend we stay.

The Doctor explained that the best hope is that Mattie takes to the steroids really well, the MRI shows nothing and that we get him home soon. The impact on him going forward and developing will only become clear in the coming months.

Our Personal Observations of Mattie

I’m not sure if the steroids are helping, maybe it’s too early to say, maybe I’m seeing more because now I know what to look for...