When you have a child diagnosed with Sotos Syndrome it’s hard to know what to expect, there is a list of things to watch for and each child will be affected differently. Some start life with a lot of medical issues, which typically improve as they get older. Some have no medical issues and the first time something is suspected, will be a growing realisation that milestones are not being met. Some improve a lot in the first few years of life, others improve more slowly but typically they progress at a pace unique to them. We will share a few stories in this blog series to illustrate the range of experiences.

Today we ‘Google Met’ with Rebecca, who is the mum of Jayden who lives in Qld, who has Sotos Syndrome and she shares her experience raising Jayden in this Q+A.

Q: Tell us a bit about Jayden, from your perspective.

Rebecca: Jayden is a happy, friendly, social 9 year old boy. He is technically non-verbal but talks a little bit. He loves horse riding, hippotherapy, which he has been doing now for just 6 months. He goes a specialised school for kids with learning difficulties, which he has attended since Kindergarten. He loves swimming and we go to a typical swim school, which specialises in children with disabilities. He has one-on-one instruction there.

Q: Tell us about how you first became aware that Jayden had Sotos Syndrome and your diagnosis journey

Rebecca: Jayden wasn’t diagnosed until he was 4 years old, but I became aware something wasn’t quite right at 3 months old so we did a lot of tests. At 2 years old he was diagnosed with epilepsy, our first challenge. Before then it was missed milestones. We tried to get therapy for him but it was pre-NDIS so we were fighting with disability services Queensland and had to get a local member involved – we won that fight and were given some support. The paediatrician suspected Sotos Syndrome so we got a geneticist involved and the NSD1 gene change was confirmed (not sure if it is a mutation or a deletion). He was diagnosed with Scoliosis at the same time as Sotos Syndrome, so he wears a brace 23 hours a day. It is holding his curve in place, which is around 38 degrees, hopefully until he has stopped growing. I have scoliosis myself, so he had 50% chance of getting it from me anyway. We don’t know if it is Sotos or from me! He got an ASD diagnosis a month after his Sotos Syndrome diagnosis and has been classed level 3.

Q: What have been the biggest challenges for you as a mum of Jayden

Rebecca: The behaviour has been really hard at times, but it has got much better as he has gotten older. He has started puberty early, which will stop his growth early. He is still very impulsive and not great at waiting, but much easier than when he was younger.

Q: What have you enjoyed the most about raising Jayden

Rebecca: I like the fact he is a very happy boy most of the time. He has a beautiful personality which has made the tough times a lot easier. He is very loveable and very cuddly. I get a lot of joy watching him meet his milestones in his own time. I didn’t have expectations as such and was open to anything. I grew up with an uncle with a disability, so I learnt that from watching him.

Q: Were there challenges with Jayden’s hea

Rebecca: Epilepsy, which is managed to a degree. He has medication daily, which needs to be adjusted as he has a few absent seizures of late. We had more severe seizures early on and when he was 3 he nearly died from one episode. He spent 12 hours on life support. Because of that I am thankful we only have absent seizures these days and hope that continues.

Q: How has Jayden’s development progressed over the years?

Rebecca: Jayden walked at about 22 months old, not too delayed but enough to cause suspicions. He sat up around 9 months old. He was verbal around 3 and then regressed a few months after that. He didn’t start talking again until he was 6 years old. He didn’t have any feeding issues. He can swim now which is great to see.

Q: Has Jayden struggled with any challenging behaviour? If so, what has helped

Rebecca: He still has meltdowns occasionally when he is out of routine, but having a strict routine helps Jayden a lot. He is getting better at dealing with change as he gets older.

Q: Do you have any advice for newly diagnosed parents?

Rebecca: Take each day as it comes! I wish I had got a diagnosis earlier, but it is what it is now. Take your kid to the dentist regularly – Jayden has had a lot of dental issues! Don’t be afraid to ask for help & don’t be too hard on yourself.

Thank you Rebecca, we really appreciate your time, sharing your perspective with us. You are clearly a wonderful mum! No doubt many will learn a lot from reading this!
If anyone else would like to be interviewed for our Sotos Syndrome Association Blog or newsletter, please email us at heather@sotos.org.au


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