Michael (age 6) from Hong Kong is a happy, loving and sensitive little boy. He loves playing with water, listening to music, watching trains and carousels and reading books, especially Toy Story. Behind those big blue eyes and beaming smile is a little boy that has had struggles since birth. Every milestone, that most of us take for granted, has been difficult for him and has been delayed but he continues his best.
Looking back, I noticed signs that something wasn’t right from the day he was born. Michael is our first child. Born three weeks early at 5.9 pounds we had no idea and everything was a learning experience for us, we had no other comparable sibling. In the first few days I struggled to breastfeed and get Michael to latch. Even with the help of nurses it was a struggle and like many mothers I blamed myself that I didn’t have enough milk and got myself quite stressed over it. Soon I realized it was important for my tiny baby to get milk so after spending 6 weeks pumping and completely tiring myself out, I decided to use formula. Once again, Michael didn’t take to any formula and a lot of the time he would spit up his milk. Later, our pediatrician recommended that we put him on a lactose free formula. It was slightly better but still he would spit up.
Another thing I had noticed and which surprised my husband and I was when he had his first vaccinations. I recall for his bilirubin test, the doctor pricked his heel and he didn’t even squeal. I found this extremely strange in a baby and the doctors didn’t say anything about it but I now know this is a symptom of his condition and that Syngapians have a high pain threshold.
After one day from being discharged from hospital, Michael had severe jaundice and was admitted again for another 3 days. He was put on a drip and a doctor had told us later that this could be a reason for his condition but after a brain scan, that soon got ruled out. Few months later he was admitted again with breathing issues which were diagnosed as bronchiolitis which we found ourselves in and out of hospital with over the next few years. Luckily, as he has grown, his episodes have become less and less and his immune system seems to have gotten much stronger.
As months went by more signs became apparent. Just the way he would hold his bottle with his fists and not clasp it with his fingers. He never put any toys in his mouth like other babies. Whilst I consistently raised this to the pediatrician, I was told not to worry and thankful he isn’t picking up germs. Deep down I knew this wasn’t right as babies explore through sensory activity. At some of the baby groups I took him too, he would spend the entire session crying until I took him out because of the noise of other babies. He hated being in a room of a big gathering especially if it was noisy.
At 6 months onwards when I started to put Michael on solids, this was another difficulty. He wouldn’t chew anything and I was too afraid so would just puree all his food. I felt it wasn’t helping him but at the same time I was too scared he would choke.
When Michael was 18 months, still not walking, a speech therapist I had consulted had recommended getting his ears and eyes checked. She thought if he had trouble seeing properly or issues with his ears, may be the reason why he is unable to walk. Surprisingly, the week he got his new glasses, he started to walk. Whilst he was still very unsteady on his feet it was a start and a new freedom for him. As time went by, he started to get stronger. He used to love running around by the waterfalls close to where we live and trying to dip his little hand under them. Even today, he loves being in or around water and is a great soother for Michael when he is stressed.
Around this time, our pediatrician agreed that he wasn’t developing at the rate usual for a child of his age and referred us to a developmental pediatrician. On seeing Michael, she immediately recommended we get Michael into occupational therapy and physiotherapy. At the time speech wasn’t really discussed because a previous speech therapist had told us that children would usually develop their gross and fine motor skills first. In hindsight, we probably should have started speech therapy earlier.
Separately, we started to notice jerk movements in Michael. They wouldn’t last more than a second and were generally set off when he ate or drank or had a bath. One time when we were seeing the developmental pediatrician, she noticed something that she called a drop attack. We just thought he fell as he was unsteady on his feet but she thought it was worth a referral to a neurologist and to have a brain scan. Michaels brain scan had come back clear, however, the neurologist had recommended an EEG and that’s when they advised that they think he may have epilepsy. The neurologist had pointed out that it wasn’t conclusive but she thought he should start a dose of Epilim. We didn’t want to put Michael onto more medication given they were only 50% sure that he had epilepsy as well as the fact he was already on Beclazone three times a day for his bronchiolitis. Therefore, we took his results to another neurologist for a second opinion and he confirmed he had epilepsy and if we didn’t start giving him the medication, it could lead to a large seizure. Luckily, Michael has always been on a very small dosage of Epilim as he has only ever had myoclonic seizures.
However, with everything we were uncovering, we were still baffled by his milestone delays and thus we had a genetic test done which zoomed into a particular gene which is highly related to learning ability, MED13.
Around the same time, post the suggestion from a speech therapist, we consulted some doctors at Great Ormond Street for a multi-disciplinary assessment for Michael. The doctor we saw, who has 35 year’s experience in neuro developmental pediatrics, was very certain that he would be able to provide a diagnosis. He agreed Michael has autistic tendencies but like our developmental pediatrician, he didn’t think autism was the primary cause. We were sure this would get us to the bottom of his condition and therefore, we decided to do the assessment. Four months later we spent a week back in the UK at Great Ormond Street hospital seeing various specialists including speech and occupational therapist, psychiatrist, neurologists, geneticist, you name it. It was intense and whilst stressful, we were looking forward to getting a diagnosis at the end of the week so we can start treatment for whatever it was. The geneticist reviewed the results of the test we had done previously. He confirmed that the MED13 mutation that Michael had was a de Nuovo and he said it could relate to a number of syndromes such as Fragile X or Angelman but there were other features within these syndromes that didn’t fit the bill with Michael. Unfortunately, no real conclusion came out of the assessment and all they could put it down to was global development delay. The geneticist we saw said we could get full gene testing done but it would be highly expensive and the treatment would most likely be the same as we are giving now anyway. At the time, we decided not to take it any further.
When Michael was a baby, he was an excellent sleeper. However, as he got older, he would wake in the middle of the night and as we would say, have a party in his room. He could be up for hours at a time and some days be totally wiped out in the morning. Even today, Michael will wake up in the night but now he would just run into our room and sleep with us but still continues to wake up early in the morning. Back in mid 2020, we decided to have a follow up with his neurologist due to his increased sleep disturbances and the jerk movements were becoming more frequent. We had a conversation with her and she referred us back to the neurologist at the public hospital and we discussed with him about doing the full genome testing. It had always been in our mind but this time we felt this was the last resort and if we didn’t get a diagnosis through this then we will never know. Additionally, given Michael is at the school age, we thought getting a diagnosis would also help and better place him for any special needs school if/when required. In all honesty, if Michael could speak, we probably wouldn’t have taken this route and life would have continued believing he just had Global Development delay.
Three months ago, Michael was diagnosed with SynGAP1. Whilst it is still a shock to hear your child has such a terrible disorder, it was a relief to finally get an answer to something we have been searching for years for. At least we knew the treatment we were getting for Michael such as ABA therapy, occupational and speech therapy was the right path. However, what the diagnosis has allowed is for us to connect with other families through the Syngap Global family network and the Syngap Research Fund. Whilst we are relatively new to this group, we have already found it an excellent source of information. We are obviously concerned for Michaels future but are hopeful that there will be breakthroughs that will help our children with SynGap1.