Apr 19, 2018, 12:15 PM

My beautiful son William was born at 33 weeks. He was diagnosed with reflux at two. He had a tough start with bugs all the time, bowel issues and other bits. He was then diagnosed with Global Development Delay (GDD) at three and a half after fighting to get any support anywhere. Once he was diagnosed with GDD and the report sent to the public hospital, they finally accepted his referral and he was seen at four years old.

Many forms were filled in and among these tests was a blood genetic test. I believe he was five when he got diagnosed with his rare 11p14.3 micro deletion. The one next to the gene known to cause Autism Spectrum Disorder (ASD) and Attention Deficit Hyperactivity Disorder (ADHD). I believe there’s no one exactly like him but there’s only a few with overlapping deletions in the world. He has had his adenoid taken out, tonsils and grommets due to ear infections probably caused by reflux, and sleep apnea resolved. He has had anaemia and B12 deficiency, both resolved.

Now my son has never fit into one particular box in the medical field. He also got a surgery and scopes and things for his reflux. This helped however it did not completely go away. After about 18 months it came back. I expected the surgery to have loosened it, and to have the GP confirm he refluxed during their test - I thought “oh no”. We went and saw the doctor and they said his surgery was still working, however he has a motility disorder (rare in adults, even rarer in children). His esophagus is uncoordinated, it spasms shut and food stays there and he refluxes from there, not his stomach. The doctors are stumped. Along with a recent weight loss he is about to have yet another scope, biopsies etc to try and get his esophagus to contract normally. This may or may not work. Fingers crossed.

Apart from his rare deletion and other bits he was diagnosed with ADHD. He also has sensory issues regarding sound, taste and smell. He chews everything he can touch. They think he may have an intellectual disability and dyspraxia (coordination disorder). He also has traits of ASD and I believe he is on that spectrum also. Yet he still isn't diagnosed with that.

William is one of the sweetest, kindest boys I’ve ever met. He would be anybody's friend and do anything to be liked. He has a smile that lights up the room and a personality which people seem to be drawn to. Children, however, find it difficult to connect with him. He is very all over the place, understanding certain things is difficult for him, and socially he is loud and in your space. He also has low tone and hypermobile joints, which means he tires easily and gets painful joints. He finds school really hard, with the noise and chaos that goes on. As well as the bullying and lack of friends. Then he thinks he is stupid because he cannot do as well as his peers. He has no funding for extra help. Although we have just changed his schools and they have gotten Resource Teachers: Learning and Behaviour on board and an Occupational Therapist will be coming in shortly to observe him in the class. I believe he needs teacher aide funding and an Ipad to do his work on. This would greatly improve his output and self esteem.

Apart from all the struggles and medical mysteries, he is a delight. Constant, full time - but he’s such an AWESOME kid and deserves the best. His perseverance is more than many adults I've met. This will be a great asset for him and his progress if he is to get the assistance he needs and does not quit trying.

Just because someone does not look a certain way, or looks "normal" and can speak does not mean they fully understand what you are saying. Just because he looks tall and older then he is in age, or mentally, does not mean he will behave that way and not go and touch everything in the shops or talk to random people on the bus and tell you all his and my personal information and call you their best friend because you have been nice to him. Just because someone is seven and looks it or older does not mean they aren't allowed to chew that thing - and telling him he is not a baby does not help his self esteem. He knows he is not a baby, and doesn't know why this is an issue, is it hurting you?

Everyone is different. William even knows this. Some aspects of what make William who he is, beats "normal" any day of the week. And the other parts - well, they make life trickier. Understanding and acceptance for different is better than persecution and what he "should" be doing or not doing is not! Trust me, if you've thought something, or asked him to do something or not do something because it is not "age" appropriate behavior, chances are I’ve been trying for years to help with it to no avail. Ask away, instead of guessing or looking - I'd prefer it if you approached us and talked to us. William would love to tell you about everything and anything. William is my superhero - 11p14.3 or not he’s a true blessing.

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