Tag Archives: infantile spasms

Giving a little back

From the initial diagnosis of Matthew’s infantile spasms right through to providing support for his eye rolls post discharge the guys at Temple Street Children’s Hospital have been amazing. The time has come were we can now give a little something back, and perhaps help other children and their families that are suffering from neurological conditions.

It’s happened at least three times since discharge, but Mattie had had the odd eye role. At first we thought he was just messing with us, or perhaps we’d imagined it, and actually he was just playing. However I caught the second one on camera.

We were reading the Gruffalo book, and Mattie being a huge fan was loving every minute of it. His speech had come on fantastically and he was acting all super cute, pointing out the characters and what they were up to. I decided to a video to send to friends and relatives and it was just as I was recording that he had an eye roll. Thankfully I had caught it on camera. I was able to re-watch it with Emma and make sure that it wasn’t me imagining it.

Emma got in touch with the neurology department at temple street, and even though we were discharged they reviewed our footage and got back to us. They diagnosed these new eye rolls as a “benign tonic upgaze” which happens with all children on occasion. So nothing to worry about, although if they increase in frequency, intensity or duration we are to give them a call. It was great to get that support even though Mattie wasn’t actually a patient.

Giving Something Back

We thought it would be great to give something back to the hospital and in particular the neurology department. So Emma has signed up for one of  Ireland’s largest army assault style runs, it’s called Hell and Back. – The clue really is in the name. It would be great if you could consider supporting Emma and Temple Street by sponsoring her via this link here: http://www.mycharity.ie/event/emma_woodss_event/

Alternatively if you just want to watch the obstacles Emma is going to have to under take you can check out the event videos here.

 

Mattie on the Santa train, eating chocolate with Mummy. Both have just spotted Santa walking down the train.

A Very Different Train Journey; Mattie’s Christmas

12 months ago the whole family enjoyed a Christmas steam train journey. It’s a fantastic trip organised by the Irish Train Preservation Society. Importantly at the end of the trip everyone gets to meet Santa. Last year Ben, our eldest son, had an absolute blast but in the middle of all of the excitement myself and Emma took turns holding Mattie as he shook with spasms. At the time he’d only just started his Sabril, was still bloated from the steroids he’d taken and suffering from conjunctivitis. The future felt very worrying. However, this year’s trip was very different!

Over the last couple of weeks Mattie has been weaned off Sabril, and is now medication and spasm free! At his last EEG on September 23rd there was absolutely no sign of hypsarrhythmia (the EEG signature associated with infantile spasms).

The routine of giving him his medication had become so ingrained in both of us that initially it felt very weird not to dig out the syringe and mix up his drug. A mental itch, like we’d forgotten something.

On the train this year both Emma and I were stretched trying to keep tracks on both boys. I think Ben believed he was on the Polar Express – we were just worried he would try to ski down the length of the train! – of course Mattie wanted to do everything his big brother was doing too! … Fingers in this, trying to eat that, stealing toys off his big brother…

Mattie had a blast with the on board carol singers. They walked the length of train bringing Christmas joy, and in between mouthfuls of chocolate and treats Mattie would try to join in, singing in only the way a nearly two year old can!

It was such a change from last year, and so much fun.

Mattie has come a long way this year and we are all delighted – he has achieved all of the things we were unsure he would; walking, talking and such a strong and funny wee personality. It is the best Christmas present we could have asked for.

We’re also hopeful that he will have escaped the worst of the Sabril side effects; vision loss. There is defiantly no sign he has any, but we won’t know until he’s much older but even if there is some the trade-off will have certainly been worth it. In the meantime the four of us have so much to look forward to.

Next year, Mattie will have one more check-up with neurology in April. Assuming he stays spasm and hypsarrhythmia free the hospital will discharge him. So far it’s looking good!

As you can probably tell from the older blog posts when Mattie was first diagnosed both Emma and I were shocked, a bit dazed, confused, and I think it’s fair to say a little scared. During the nights sitting beside Mattie in the hospital Emma and I would do what the neurology nurses recommended we didn’t; we checked the Internet.

“Whatever you do” said the nurses, “don’t google it. The Internet is full of all the bad cases, no one likes to write about the positive outcomes.” They warned.

Perhaps maybe, in April this blog will help counter balance the current weighting on the internet. I can only hope that in the future another parent, sitting beside their little one in the middle of the night, will stumble across this blog. I hope they know that they are not alone and the blog can help allay their worries a little.

Merry Christmas everyone.

Mattie Chillin' in the Car

Mattie’s Check-up at Temple Street (11th February 2014)

We had a brilliant time over the Christmas break, with two trips back to England one for new year, and another to catch up with friends in early Jan. Watching Matthew as he observed other babies, toddlers and assorted infants of all ages was fun. His excitement at wanting to get involved was really reassuring. Since my last post about Matthew we feel he really has made huge progress. However not all has been smooth sailing. During one of our recent ferry crossings I saw Mattie have a spasm, and in total we’ve seen about 10 individual spasms over the Christmas and New Year period. In fairness Mattie had also picked up some sort of virus over the Christmas period, which I’m sure didn’t help. Seeing the spasms made both Emma and I more keen than ever to hear what the doctors have to say about his progress, in particular if anything in his last EEG was concerning or worrying.

Emma’s Report

On Tuesday Emma took Mattie back into Temple Street hospital for his check-up. Mattie was seen by a new Registrar, the head of neurology, physiotherapy and occupational therapy. While he didn’t get another EEG he did get a good checkout, with some interesting feedback.

Neurology & Weight Check

First up was the neurology department where a nurse weighed him and Mattie checked in at 12.7kg. Mattie’s weight is important as it defines the dosage of medication he receives.

Meeting the New Registrar

This meeting consisted of explaining Mattie’s history to a new doctor. Within Temple Street Hospital the registrars all rotate between departments, our last doctor had moved on and Emma spent a lot of time filling in the new Registrar. Emma recapped all of Matthew’s history and touched base on the last EEG, which was performed in Nov, although Emma didn’t get the chance to discuss it in detail. Next the reg and Emma went through the process of checking Matthew’s developmental progress.

Q. Is Matthew standing yet?
A. No… But Mattie is sitting up brilliantly by himself and playing well on his own. The Registrar wasn’t concerned by the fact he wasn’t walking. The Reg shared statistics that only 25% of kids walk by 12 months, which increases to 97.5% by 18 months. Then of the remaining 2.5% only few have reasons for not walking. Mattie has no reason apart from IS, so he should catch up. Mattie’s pincher grasp and eye/hand eye/mouth coordination was excellent. Mattie was really focused on trying to grab his pen whilst he was talking to me – got it in the end and was trying to take the lid off:)

As I mentioned in the past, the drug Mattie is currently taking (Vigabatrin, also known as Sabril) has the potential of causing peripheral vision loss.

The Registrar also checked Mattie’s peripheral vision while Mattie was distracted – his response was excellent 🙂 Mattie picked up on the slightest movement out of the corner of his eye – this bodes well considering the medication he is on.

Verbal Development
The Registrar also asked about Mattie’s verbal skills. Mattie is doing brilliantly here – “Mama”, “Dada”, “Hiya”, and “all gone” (which doc was particularly pleased to hear about – two words together:)). Also Mattie responded brilliantly when the Registrar called his name :)Emma explained the that we had seen two spasms on Jan 28th when he had a virus but nothing since.

Meeting the Neurology Consultant

The Registrar had obviously done all the leg work and filled the Neurology Consultant in. The Consultant welcomed us into the room with a smile and said he heard Mattie is doing brilliantly. Queue Mattie smiling, clapping his hands and banging the table.The Consultant said he wouldn’t change anything and plan to see us in 6 months providing Mattie stayed well.

I had some questions though:

Q. Mattie’s EEG in Nov showed much improvement, little or no hypsarrythmia but a slow electrical background. I asked the significance of this.

A. Apparently his EEG was much improved but one or two individual electrical spikes where observed along the slow background. This can mean a few things:
1. Vigabatrin is keeping IS under control but might not be suppressing it 100% this could account for spikes and slow background may be present due to medication
2. Spike and slow background may be due to another form of epilepsy being present. This will remain an unknown until we wean meds and observe what EEG and Matthew does going forward – so it’s a wait and see

Q. What is the plan for weaning?!

A. The Registrar had said they would wean a year from the last spas`m observed – which would be jan 2015. However the Consultant corrected this, he said we would wean from a year the last significant presence of IS was observed – so that makes it end of September or early October. The plan which was agreed was to return to hospital on September 23rd for an EEG and another appointment with the Consultant, if the EEG is good the Mattie should start to be weaned off his Vigabatrin over an 8 week period. If more IS/seizures are observed then we need to go back in for another EEG to figure out how to treat going forward.

Q. We’re planning on a trip to the US later on this year, but the time zone difference and the time spent travelling may mean that we have to reset or alter the set times we currently give Mattie his medication.

A. The Consultant had no concerns here, apparently Vigabatrin is one of the less time sensitive medications. So giving doses 10 or 14 hours apart will cause no issues.

We’ve also seen Mattie exhibit some odd behaviour, like arching his back and flinging his hands up to his head, particularly when he’s tired. It doesn’t look like a spasm, but it doesn’t look 100% normal either. Emma wanted to check that out too…

Finally I had described some behaviours that Mattie has – which is arching his back/flinging himself back when tired. Fortuitously (or not) Mattie did this at the end of the appointment with the Consultant.The Consultant’s response was that is it’s an odd behaviour but is most likely just that – a behaviour. But again only time will tell, so we just need to keep an eye on it!

Appointment with Physiotherapy & Occupational Therapy Specialists

Physiotherapy

The Physiotherapist’s first impress of Mattie was that he has come along brilliantly in 3 months. Compared to his last visit Mattie is now sitting up fabulously and balancing himself. He’s also reaching, stretching and grabbing well. We’ve also seen Mattie try to start shuffling on his bum, he’s not got the hang of it yet, and when he does do it both Emma and I are pretty sure he doesn’t realise that he’s actually moved himself. But all in all the Physiotherapist thought this was also brilliant.Mattie still hates his tummy time, but the Physio said need to continue to encourage him to do this. The Physio suggested working on getting him on his knees (because he does hold his weight well) and showing him how to get from knees to bum and vice versa.

Mattie has started taking his weight well on his feet too, but there is room for improvement here too. We need to encourage positive pressure on his feet, we can do this by sitting him on one of our thighs and then putting Mattie’s feet flat down on the ground either side of our thigh.

Mattie has all the precursors for walking, we just to work on encouraging him to give it a go.

When we were initially referred to a physio for Mattie we were unable to get a physio close to home. There were none available. So instead we’ve been driving into the centre of Dublin to visit the physio centre in Temple Street Children’s hospital. Things seem to have improved and we are now getting a referral to a closer, more local physiotherapist. Hopefully that will work out. If it doesn’t we’ve a back-up booking back at Temple Street for later on in March.

Occupational Therapist

The Occupational Therapist was absolutely delighted with Mattie :). Matties seems to be doing everything he should be at this age and more :). Mattie’s pincher grip is awesome, he’s passing from hand to hand well, picking blocks out of a box and putting them back in. We just need to encourage Mattie to move up to the next stage; shape sorting !The next visit with the Occupation Therapist is tentatively scheduled for May / June (waiting for appointment confirmation and final date), that should be our last appointment with the occupational therapist! … Wohooo go Mattie!


Mattie playing just before bed – check out those motor skills!

Mattie fast asleep in Emma's arms

Mattie’s Spasms Return

It was about a week after Mattie’s last check-up. I was back home, my travelling temporarily suspended. We were in the middle of bath time, and Ben was still splashing about in the water. Mattie had already been been picked up and dried off. I was sheltering from a storm of splashing about when Emma poked her head into the bathroom, she had Mattie in her arms. “I just saw another one” she said. That is when we knew that the spasms had returned.

Spotting Trouble

We’d had such a good check-up, to have them return so soon was upsetting. Just seeing one spasm isn’t so bad – they are hard to spot at the moment, and the guidance we got from the hospital had been to keep an eye out for spasms which cluster, and particularly so around tired times – waking up, or just about to sleep.

We left it a few days, watching and waiting and hoping that we wouldn’t see any more, but we did. Within two days of originally spotting the spasm Emma had called the hospital.

Thinking Pragmatically

Matthew’s medication is calculated based on a formula, he is given x milligrams of Sabril (Vigabatrin) per kilogram of his body weight. Emma and I came to the conclusion that when Mattie grows, which all babies do, his dosage effectively reduces; he gets the same x milligrams of Sabril (Vigabatrin), but his body weight has increased. So it is necessary to keep an eye on the medication and to make adjustments as he grows. Given Mattie’s recent, very successful check-up we believed that it couldn’t be anything too worrying. But still it is hard to tell.

EEG Request

Mattie has not had an EEG in months.

The spasms Mattie suffers from are just a side effect of the increased electrical activity in his brain. The plan, as described to us by the doctor, is to treat the symptom in the hope that should it go away, the underlying condition, the electrical activity will also have reduced. You really wouldn’t think of using this in an engineering world and it seems odd to both Emma and I. It is even more odd when you realised that the spasms can be so subtle that they are hard to determine.

We felt that getting an EEG would help. It would give us some confidence that the medication was working, or if the spasms had returned, some measure of how ineffective the medication had become.

We were told that EEGs are only carried out when it is felt that it will answer a question. The original plan had been to not do another EEG until next year. But given our concern, we really wanted one. So when Emma called the hospital she explained our request, and the reasons why. Consequently, we were able to get Mattie booked in for one in just a couple of days time. At the same time we all agreed to up Matthew’s dosage of Sabril (Vigabatrin).

That evening we increased Mattie’s dosage from 800mg of Vigabatrin to 1000mg per day. It normally takes a couple of days for the impact of any changes in dosage to be visible, and sure enough, after a couple of days Mattie’s spasms vanished. As a precaution we planned to up his dosage to 1400mg per day.

News from the Crèche

A couple of days after we initially increased his dosage, Emma arrived home with the two boys from crèche and said “The carers in the crèche seem really happy with Mattie. I even got a comment that ‘he really seems to have come alive’”. It was great to have a third party confirm what we had noticed at home. With the increase in dosage Mattie really seemed to be a bit more alert, and he was into everything, picking things up and throwing them about. It really seemed like the increase dosage had taken effect in such a great way.

Business Trip

I really haven’t had that many work trips this year, however two seem to come almost back to back. As a result, I was out of the country during Mattie’s appointment.

The Appointment

In addition to the hastily arranged EEG Mattie had an appointment with the physiotherapy and occupational therapy nurses. Starting at 8am it was going to be a very busy day.

Mattie was up early. Emma woke him at 5 am for the trip into hospital. The EEG is conducted when Mattie is asleep. The hospital is about 40 minutes from our house and Mattie was bound to sleep in the car, then wake all ‘bright eyed and bushy tailed’. But Emma had a most cunning plan; to arrive in early and wake him in the car, give him a bottle and play with him, basically try to knacker him out before his appointment. The plan worked. One very tired baby fell fast asleep during his EEG. Unusually towards the end of the EEG, when Mattie was awake and still hooked up to the sensors the nurse administering it started shining lights into Mattie’s eyes. It didn’t seem to phase him. We didn’t hear why they were doing this, but I assume it wa s because for some children the spasms can be triggered by flashing lights.

Unfortunately we wouldn’t hear more for another two to three weeks, until the results of the EEG were shared with us.

Occupational Therapist & Physiotherapist Update

In contrast with the wait for the EEG results, we got the results from the Physiotherapist and the Occupational Therapist instantly: Great Progress.

In stark contrast to the last time Matthew visited he was now almost sitting up by himself – he was able to do it for a couple of minutes before getting tired. His “tummy time” work had also improved considerable.

The Occupational Therapist was impressed by his new found motor skills – he picked up a Cheerio with no trouble, he was passing things between hands, pinching and grasping everything within sight, all the things they were looking for at his first appointment.

Community Health Worker Check-up

I’m sure many parents who have two children do the same thing; compare how the youngest is doing with how the eldest developed. Of course you try not to, because every baby is different, but it is almost impossible not to and particularly when the youngest baby has a condition which might affect their development. So it was extremely reassuring when the community health worker came to visit.

In Ireland a community health worker will frequently check up on new born children and their families, they help provide some initial contact for parents. The community health workers also measure and track babies development, and during our latest visit Mattie was weighed, measured and recorded. At 80 cm in length (about 31 & 1/2 inches) Mattie charted at over the 100 percentile for babies his age. I think he’s going to be a tall chap. The community health worker also provided us with some feedback on how Mattie is doing. She told us not to worry too much about the fact that Mattie wasn’t sitting up by himself all the time, many babies his age can’t do that.

Mattie at the Disney Store for the first time

Mattie’s Check Up Results

Tuesday 5th November

I’d just sat down at the meeting, the first speaker had stood and was about to start talking when my phone buzzed.

I’m away from home, in Israel attending a meeting for work while Emma and Mattie are back in hospital in Dublin for Mattie’s check up. Waiting for news, when the phone buzzed I grabbed it eagerly.

The Check Up Results are In

Emma had just arrived at hospital and had texted to give me an update:

"His genetic screening came back clear - it's official :)"

This was great news. Infantile spasms can be caused by a genetic disorder. The hospital had taken a blood sample from Mattie when he was first admitted to check for this. It takes a long time to run the relevant tests. We had only just got the results back – and it was great news! It means that Mattie is officially categorised as “idiopathic”; subset of all infantile spasm suffers who happen to have a great prognosis.

30 minutes later, after Emma and Mattie had seen the Doctor, the news was even better:

"Our boy is amazing! :) they are delighted with him :) aren't concerned about the eye flutters only said if we see it in clusters or out of waking that we should be worried :) see them in 3 months and an EEG in the middle :)"

It speaks for itself really! We are delighted. He’s not out of the woods, he’s still on his medication and we have to watch him. But it does mean that the medication seems to be working! – we’ve still got to watch him just in case, but it does give us so much reassurance that his development is ok.

… Now I’m pretty sure there is a meeting going on ….

The Disney Expression

After the appointment at the hospital Emma took Mattie to the Disney store in Dublin for the very first time, his expression is brilliant:

Mattie at the Disney Store for the first time

Mattie at the Disney Store for the first time

Mattie’s Checkup is Coming

Saturday November 2nd

I should be packing bags for a work trip which starts tomorrow (Sunday) morning. Next week, when I’m away, Mattie will be returning to the hospital for a check up. Thoughts of this have trumped my ponderous packing.

Continue reading

Learning about Learning: Myelin, Infantile Spasms

Infantile Spasms and Why…?

The interesting thing about infantile spasms (west syndrome) is that it happens to infants, not to adults (the clue was in the name). Infants do grow out of it. We also know that Infantile Spasms can have a huge impact on a child’s development. The obvious questions all revolve around “why?”:

  • Why do children grow out of it?
  • Why does it have such a huge impact on a child’s development?

Recent Research

While not covering Infantile Spasms directly, this article from the BBC details the results of research, published in the Journal of Neuroscience into language development in Toddlers.

The study which was lead by Dr Jonathan O’Muircheartaigh, from King’s College London, looked into brain formations and language development. The research showed that “myelin”, a kind of insulation that forms in the brain develops over time and by the age of 4 the myelin has effectively locked into place.

Myelin is an electrical insulator, as we grow, myelin develops around the neurons which form the brain. It prevents electrical activity from escaping from a neuron, and helps make a neuron faster at propagating an electrical signal within it.

The study indicates myelin formation stops when we reach the age of four. It also suggests that a lack of myelin, as we grow, helps us to learn and pick up new skills and abilities quicker. Without myelin new connections between neurons can form quickly, effectively signals will jump from one neuron to another. After myelin coats a neuron it will insulate it, preventing these connections from being made.

The study also suggests that there may be a link between myelin and slow language development, a key symptom of Autism.

The interruption of this process of forming new connections, with conditions like West Syndrome will have a large impact on a child’s development, since the connections which form between neurons when we are under four appear to be more difficult to change as we age. This causes learning difficulties. It also explains why Infantile Spasms can have such a large impact on development; it interrupts our neurons, during a crucial window of development, as they try to make connections between each other and form our brain.

Myelin and West Syndrome ( Infantile Spasms )

In 2007 research by Shiga University of Medical Science in Japan looked at a link between delayed development of Myelin and Crytogenic Infantile Spasms. The team in Japan concluded that while they did find evidence of delayed myelin development in 55% of the cases they looked at, they did not see a clear positive correlation between delayed myelin development and Infantile Spasms.

Ticking off the “Why-s”

From what I read it looks like myelin could be a factor, but it’s not the root cause (if a single root cause exists). While I think I’ve answered why Infantile Spasms has such a large impact, I still haven’t completely understood why babies can grow out of it. – I guess that’s a job for more reading at another time.

Mattie feeling better. With out Spasms and Keeping his head up

Mattie – Is he back to normal?

Tuesday 2nd October 2013

“Is this baby ours?” – It’s a question Emma and I asked ourselves as we lay in bed listening to Mattie in the cot beside us. It was 3am, and Mattie had been playing and giggling from 1:30am, and has no sign of slowing down… Maybe he’s hungry?

First Week on Vigabatrin 600mg / day | (54.54 mg/kg)

Mattie has made some good steady progress over the last couple of weeks. Over the first week we saw Mattie’s spasms drop off. It became very hard to tell if he was having them. Mattie’s demeanour changed, he became more excitable and interested in everything around him. We got even more giggles and laughs, it was a joy to see. I hadn’t seen any spasms at all, but Emma, who is still on maternity leave with him, was convinced that he was still having mini spasms.

Slight Spasms

The spasms have changed in nature, they’ve gone from a full on sequence of jerky movements, like we’ve recorded in our initial blog post, to something much more subtle. A head jerk, or an odd eye role, twitchy movements of hands, movements repeated for a long time. The repeated movements reminded me of watching people high on ecstasy dancing in a night club, the repeated dance steps, were like Matthew’s repeated head movements.

But eventually over time even these movements have become less frequent, and ness noticeable. To the point where we end up asking ourselves, “Was that a spasm, or has he just startled himself – like a normal baby?”.

Check-up Monday September 23rd 800mg | (72.72 mg/kg)

The plan we agreed with the doctors had always been to increase the dose of Vigabatrin on a weekly basis until it reached the point where Mattie’s spasms had disappeared. This is something both Emma and I are careful to watch, as I mentioned in a previous post the side effects of Vigabatrin include possible permanent vision loss. We used Mattie’s weekly check-ups as the opportunities to assess the need to increase the dosage. As I hadn’t seen any spasms I was reluctant to increase the dosage, but right there during his check-up he had two spasms, and they were witnessed by Emma and the nurse. This was ultimately bad news, but it was great to have someone else there to see them happen. They had become so slight that it was getting increasingly difficult to confidently spot.

Check-up on Monday September 30th (dosage / kg)

Over the course of the week since the last check-up Mattie has continued to improve. He became more alert and more crazy! – Giggling laughing, and physically a lot more active. It’s as if he’s a super charged car, which has been driven with the handbrake on, now it’s been released he’s zooming away. At his check-up on the 30th he got the all clear from the nurses and it was agreed that there was no need to increase his dosage.

It is still very hard to be sure that he is not having any more spasms. He’s so very active, we had thought his older brother Ben was active, but this is on a different scale all together. That it has made Emma and I wonder if the over activity is related to the Vigabatrin, or the Infantile Spasms themselves?

I would like to have another EEG, just to prove that the hypsarrhythmia has gone and that Mattie’s back on full form, but we had agreed with the consultant that it would not be necessary as the consultant said at the time it wouldn’t provide him with any additional information. But the more I think about it, now, the more I find that hard to understand. If the original idea had been to treat the EEG (the hypsarrhythmia) and that the removal of spasms would be an indicator that the EEG is back to normal, well then, now… when we’re not sure that the spasms have completely passed, and we’re struggling to tell, – isn’t it now a great time to check with the EEG? It is something I feel I need to raise with the consultant, just to be sure.

Wednesday 2nd October

Emma had searched the internet and learnt that the jittering and excited-ness is also a side effect of Vigabatrin. Perhaps with would explain Mattie’s excited-ness during the nights?

The Bug Strikes…

We’d just sat down in front of the TV, both boys where in bed and all was quiet in the house. When I heard it – a cough. “The cough” which changed what was to be a relaxing evening, complete with some down time to update this blog, into another all night sit up. Except this sit up was to be one most parents are familiar with. The winter vomiting bug had arrived and poor Mattie was the first in the family to come down with it.

I headed up stairs to find Mattie awake, and smiling in his cot, but all around him was a halo of vomit. Poor guy.

We’d been told that Mattie’s immune system would be compromised after taking the Prednisone, and it would take some time to recover. We’d also been told that if he gets anything like a vomiting bug that we were to not wait around like we would if it was Ben, but to get in touch straight away. So after cleaning Mattie up and bringing him downstairs I called Temple Street and spoke to the on call medical registrar. After explaining Mattie’s background she told me that the intake of fluid was important, and to try Mattie on some dioralyte. Assuming he could keep that down he would be doing well. If he was having any trouble with taking fluids that we should seek help straight away.

We started the Dioralyte that evening, giving him small drops every 10 minutes. Within an hour we had a full “exorcist” baby moment and everything came back up. However the next hour went much better and eventually Mattie fell fast asleep.

Thursday 2nd October – Docs check-up all ok, you can relax now.

The next morning Emma took Mattie in to see the GP. He got the once over and we got some reassurance that he was OK. The doctor was telling Emma that now the treatment is starting to work for his IS (touch wood) we can start to look forward to treating Mattie just like any other baby. It was great to hear this, and I guess after all of the stress of the last month it still seems a little odd to treat him normally.

Friday 3rd October – Is this the return of Infantile Spasms?

Mattie woke early after a restless night. He was still tired from the day before and his little system is probably recovering from the bug.
Emma was with Mattie, when the spasms returned. Five in a row, slight, but definitely there.

In the morning Emma called and spoke to the Neurology Registrar at Temple Street. Normally a spasm would trigger an increase the Vigabatrin dose, however the Reg suggested that we wait. See how it goes over the next day or two, was this a once off? Or is it a trend? – Only time will tell. If Mattie appears to be developing normally than there isn’t anything to worry about, yet.

Saturday 4th October

Today was a great day, Emma and I cleared out the nursery and got Matthew’s gear moved in. Tonight Mattie spent his first night in his own room. To achieve this Emma and I both needed to get stuck into all of the junk that had been deposited in the nursery. Emma’s sister had offered to look after Mattie, while Ben got to hang out with his Grandfather. It was great to get a second pair of eyes on Mattie, to get a different perspective, and apart from Mattie still recovering from his tummy bug, and his appetite being less than before there really wasn’t anything to report. . . a normal baby once more.

From speaking to other parents we’ve met via Facebook Emma discovered that often an illness will bring back some of the spasms, but this is normally due to the baby being under some increased stress because of the illness.

It was also a huge milestone for us as a family, Mattie got his first night sleep in his own room, and we got the first night in our room alone.

Sunday 6th October – More Spasms?

Matthew was just sitting in his new bath chair, in the bath. Holding him tight I reach up to wash him with a sponge, when he jumps, back straight. — Was that a spasm? The rest of the day had been normal. Nothing unusual. Mattie had slept well in his own room, and the only news to report was that his appetite still isn’t 100% – but then perhaps we’re just seeing it return to normal after the Prednisone has worn off.

But after his bath, as Emma was getting him ready for Bed Emma thought she saw two more spasms. We think we did, but it is just so hard to tell.

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.

Matthew's Spasms and Medication Charted

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.