Noah’s Story- Infantile spasms

Our delightful boy was smiling at us, laughing when tickled and reaching for his toys. It was a joy watching him on Christmas day 1999 as he played with his new toys and even when he was admitted to hospital with croup in early January, he had a smile to spare for the staff in casualty. But then on Valentines day 2000, when Paul and I had a long weekend in Queenstown by ourselves (well with Noah as the only child) we realised he was no longer smiling, hardly using his hands and avoided looking at us.

We took him to our paediatrician, who took our worries very seriously and did a battery of tests. The only positive result was that Noah had iron deficiency anaemia, but not severely enough to account for his symptoms. He started on Fergon syrup, which he took readily enough although it smelt and tasted horrible to me. This seemed to give him “horrible hiccups”, he would jump his arms forward, screw up his face and cry, we thought the iron must be causing reflux, but after two or three days while surfing the net, I realised these “horrible hiccups” were actually infantile spasms.

This is a diagnosis to strike terror into any doctor as it strongly associated with severe brain damage, but next day when Noah had an urgent EEG the diagnosis was confirmed, as it showed hypsarrhythmia. The triad of infantile spasms, developmental regression and hypsarrhythmia is also known as West syndrome

 I spent most of that day surfing the net, finding out as much about it as possible, but almost everything was very negative (eg. 80% of children will have an IQ below 20) the most hopeful news was that the prognosis in Down syndrome is often better (with two thirds of children regaining lost skills and learning new ones) and that the new designer drug Vigabatrin often totally stops the spasms, quickly and with not too many side-effects (well 30% of patients get an irreversible visual field defect, but compared to the side-effects of some of the treatments this is nothing!) My favourite site is family village; http://laran.waisman.wisc.edu/fv/www/LIB_WEST.HTM

Noah was started on Vigabatrin that evening (our paediatrician was wonderful, seeing us when the paediatric clinic was officially closed and the pharmacy department also stayed open late especially for us) The next day, he was so sleepy, he was almost comatose and I began to think he might need tube feeding! He soon adapted to the drug however and coped with a full dose (it was a lot easier breaking the tablets into halves rather than quarters, but was still quite difficult dissolving them in 2mls water then syringing it into Noah’s mouth.)

We waited for a miraculous result but unfortunately it didn’t come. Noah continued fitting. We gave him some B6, which totally cures spasms in children with B6 dependency, again with no effect. We bought CDs of baroque music, as listening to this is supposed to reduce epileptiform activity, this was at least quite pleasant for Paul and I, even if it didn’t help Noah.

We felt very similar to the way we had during Noah’s early days, living life one day at a time, unable to look ahead at all. Once again we felt supported by the concern and prayers of family and friends.

After two weeks trial of vigabatrin, Noah started oral steroids (25mg prednisolone daily, a massive dose) he also needed antibiotics as his urine test showed a mild chronic infection. Now we had to monitor his blood pressure and check his urine for glucose. After two weeks with no result, he was changed to injectable steroids (ACTH) for 10 days at 6 units daily, 10 days at 20 units and the past week at 40 units.

So here we are, on Easter day (April 23^rd 2000) with our darling little boy looking like an Easter egg as the steroids have caused such massive weight gain. He is so hungry we have to take a tin of baby food up to bed with us, but is less irritable and sleeps better now than when he first started the steroids. Unfortunately, he is still having spasms, still doesn’t smile or look at us or use his hands, but he follows objects with his eyes and has pretty good head control and remains our well loved special son Noah.

Update 7th May

Noah's still keeping life very exciting for us. For the two days after Easter, we saw no fits and started to get quite hopeful. Unfortunately, he then had a long run of fits the next morning and the day after that. He also started getting quite major side effects from the steroids, he bled and bruised at the injection site and his face became even fatter (see the following photos and you won't believe this is the boy who once had so much trouble putting on weight!)

Our regular paediatrician returned from his holiday and saw Noah on the Friday after Easter and after talking to a paediatric neurologist in Auckland, decided to stop the steroids (changing him to oral hydrocortisone at a rapidly reducing dose) and start him on Epilim.He then discovered a paediatric neurologist from Christchurch was coming to Palmerston on Monday and made us an appointment to see her.

Noah started the Epilim on Friday afternoon, and that night didn't sleep at all. He continued being irritable all weekend as we increased the Epilim as planned.

It was good meeting the paediatric neurologist who coped very well with our onslaught of questions.

She told us she didn't like high dose ACTH like Noah was having as it has a 10% mortality rate!  It could have given him heart failure so she ordered a cardiac echo. Also he should have been taking Zantac and gaviscon to protect his stomach from steroid effects, so she prescribed them. Although she didn't much like using Epilim she told us to continue this as the other neurologist had prescribed it, but she added vigabatrin to the now very long list of drugs he was on.She also confimed that his funny eye twitches were fits.

We began to think about getting Noah a hospital drug chart as we now had 9 drugs up on the kitchen shelf!

Over the next day Noah became even more irritable, continually moaning, rocking his head and opening and closing his hands. What was even worse was realising that his eyes were randomly moving and he wasn't even responding to light. He seemed to be totally blind.

We got an urgent appointment with the paediatrician, who has been wonderful, always taking our concerns very seriously. He was obviously worried thinking Noah had an encephalopathy and was all set to do a lumbar puncture.  He contacted the Christchurch neurologist who said no lumbar puncture or brain scan but do an EEG in case of status epilepticus.

So we ended up in the EEG dept. with a rescussitation trolley two doctors a nurse an EEG technician (as well as Paul, me and Noah!) Then a major suprise. THE EEG SHOWED NO EPILEPTIC ACTIVITY!!!

We realised then that we'd not seen any fits since he restarted the vigabatrin, so this was good news, but no solution to his odd behaviour. So we were told to phase out the Epilim and give him another injection of ACTH in case it was a reaction to new drugs or ACTH withdrawal.

Another 2 nights with very little sleep (but Paul escaped to Hawkes Bay for a clinic for one of these nights) and continual odd movements, but at least his vision seemed to be improving.

A major search of the internet and we came up with some small print paediatric knowledge. Epilim can cause hyperammonaemia which gives a metabolic encephalopathy which would possibly be worse in a child with no colon and on vigabatrin.

I then had to tell this to our poor paediarician on Friday, who took it with very good grace - in fact becoming quite excited at the prospect, although apologectic that he hadn't thought of it himself.

Well after 8 attempts, they finally got some blood from Noah and guess what? The ammmonia level was normal!

So we're not really any further on, although Noah's symptoms do seem to be easing somewhat.

Update 26th May 2000

Noah is keeping us busy once again.  Last week one bright sunny day started like any other.  By mid morning, however, things changed rapidly.  Noah had started vomiting, not very much but enough to make us worried.  Noah had been off colour for a couple of days but there was nothing specific wrong.  Now he was looking even worse.  Angela called the paediatrician who agreed to see him later that morning.  Straight away it was clear that Noah need a drip to replace fluid, but none of the doctors could manage to get into a vein.  An X-ray showed that Noah's bowel was dilated and possibly obstructed.  The paediatric surgeon was called. He wanted to see Noah down in Wellington Hospital so Noah was on his travels once again.  This time Angela and Noah had a helicopter ride.  The positive thing from this was that Angela really enjoyed the flight.  Because the nurse was worried that Noah's stomach was swelling up, the helicopter flew quite low giving Angela a great view of the hills and central Wellington.  She said it was like a scene from a James Bond movie flying low through the valleys climbing over the hills at the last moment.

On arrival in Wellington Noah's condition seemed to get worse and it was clear that he urgently needed a drip.  After about 15 attempts one of the paediatric anaethestists managed to get into the saphenous vein at Noah's ankle.  The doctors were getting so worried that they were planning to put in an interosseous line (into the bone marrow in his leg) fortunately this was not necessary.  With some fluid Noah improved very quickly.  Unfortunately his bowels were still not working.  The surgeon carried out a bowel washout (not a pleasant procedure) and managed to clear out a lot of Noah's bowel contents. Noah had another nasogastric tube put in and Angela spent a worried night with him.  Fortunately Noah did not need further surgery.

Over the next few days he had regular washouts and his abdominal swelling seemed to settle down.  Whilst he was in hospital Noah was seen by several paediatricians.  They were not sure why Noah's bowel had stopped working and they were puzzled by his repetitive movements.  Another EEG was carried out.  This was not normal but did not show any fitting, which was good news.  The paediatric neurologist also had a look at him.  She wasn't sure why he was having these repetitive movement but felt that they were extrapyramidal and could be due to a drug.  By now Noah was nearly ready to come home, but it was felt sensible to arrange all investigations that required any type of injection as Noah had a drip up and running.  Therefore arrangements were made to arrange an MRI scan of Noah's head and some tests on his kidneys. (Noah has had recurrent urine infections and a recent ultrasound showed that his kidneys are small).  These tests could not be arranged in Wellington at short notice, so Noah was transferred back to Palmerston North.  Hospital transport could not be arranged in time and Paul came down to Wellington to collect Angela and Noah.

Back in Palmerston, Noah had an MRI scan (with general anaesthetic) and a nuclear medicine scan of his kidneys to check his kidney function.  Noah's brain scan shows some changes but none of them appear to be too serious and his kidney function appeared normal.

Noah has now come back home.  Remarkably over the last few days his condition has improved dramatically.  He is smiling!! And he is looking at his hands and responding to things around him.  Unfortunately he still needs regular bowel washouts every day but hopefully his bowel will start working soon.  We are hopeful that things are gradually improving.

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