SWAN UK (syndromes without a name) is the only specialist support network available in the UK for fa…
Oscar is two years and one-month-old. He loves being outside in the garden and the same routine every day. He is non-verbal but I (mummy) know what he wants by his quirky gestures! He has a funny personality and the cheekiest smile you'll ever see! He is very loving towards me and his nanny and granddad.
Oscar is very fussy with his food and will only drink from a certain cup! He will only use a particular plate for meal times and he becomes very anxious around busy places. He has on many occasions been known to get short of breath when walking; his lips and hands can go blue which then results in extra inhalers and careful monitoring.
Oscar’s biggest accomplishment so far has been learning to walk! There was a time we really thought he would crawl forever! He has hypermobility, low muscle tone and a hole in his heart (atrial septal defect or ASD for short). He also has sleep apnoea, constipation and iron deficiency for which he’s just finished a three month course of medicine. He requires inhalers and medicine daily. He doesn’t like strangers, meeting anyone new, or playing alongside other children; he has a lot of frustration!
Oscar has developmental delay. As he does not have any verbal communication, I have been trying to teach him sign language but he is yet to pick this up; instead he uses his eyes or small gestures to say what he wants. Oscar likes his strict routine and does not cope with any changes! He regresses in his development, for example, at around one years old he could say mum and Max (our dog) and then lost all ability to speak after a week. He was able to do simple peg puzzles, but again has seemed to lose the ability. I realised that things were going to be different during a general health visitor review, but also when talking to friends who have children of similar ages.
Oscar does not grow at a normal rate – he is very small for his age and struggles to gain weight. He is always way below the growth charts for both. He follows a high calorie diet and has taken milk supplements with high calories for around a year, but we are still not seeing good weight gain.
Oscar has had a microarray test, he is having a neurometabolic testing at the end of the month, and we are waiting for some forms to join the 100,000 Genomes Project.
I hope that we can finally find out why he does not grow as other toddlers his age, and get an idea of what his future will be like; will he ever talk? Will he always be tiny? Will he always regress and if so by how much?
Having an undiagnosed condition is frustrating, not just because of his health but also because of doctors who started to make me feel like I was being overly dramatic! They didn’t believe me when I had concerns or would brush them off constantly. I want to have a happy toddler and I have a lot of worry over the future. In the beginning I was sad, frustrated and scared. I still feel the same, but now I’m proud of the little hero my son is turning into.
If Oscar had a diagnosis I could explain to people he isn’t just an unhappy toddler. I could explain to his soon to be nursery that he has ‘X wrong’ and it affects him in this way. I could research what his future will be like. Without a diagnosis it’s challenging getting people to believe me, trying to explain to strangers how he feels and what he wants and getting people to understand this lonely journey. I’m terrified about the future!
The best thing on our journey so far has been finding out I wasn't alone! I found out about SWAN UK when I was looking on Google about the 100,000 Genomes Project that Oscar’s genetics doctor had spoken to me about.
As a new member of SWAN UK I hope to get in touch with other parents who feel just like me and get some support that I so badly need.