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Located: United Kingdom
Symptoms: Autism spectrum disorder, Hypermobility (in fingers and toes only), Mitral valve insufficiency (cardiac), Moderate Learning Difficulties, Overgrowth, Undescended testicle (corrected by surgery)

Daniel was born six days before his due date and weighed 8 lb 15 oz. He had a big head and was very long. One of his head fontanelles was not quite in the right place but he was checked out and it was fine.

As a baby he grew very fast and would feed for a long time. When he moved to formula he would regularly drain the bottle and still want more, meaning he was fairly chunky. He was slow to hit all his milestones but managed to just achieve them at the very end of the range. He has a brother 16 months older and we were constantly being told not to compare them, but we were concerned about his slow development even in the first six months. He was slow to smile, crawl, and walk, and his large frame and poor balance and co-ordination didn’t help.

At two years old, he was referred for speech therapy and an audiology check. It turned out he had glue ear in both ears but it wasn’t bad enough to require surgery, so was just monitored. He was picked up by a paediatrician at 2 1/2 and was diagnosed as having global development delay. He was very slow to pick up skills as a toddler and needed lots of repetition to learn skills. Unlike his brother he did not learn by experimentation or by repeated attempts—if he tried something and couldn’t do it, he would usually give up. He was late to pick up self-care skills like feeding, dressing, and toilet training.

Daniel’s motor skills were (and still are) fairly poor. He struggled to do tasks requiring fine motor skills and he was clumsy and uncoordinated. His balance and spatial awareness were poor and he found physical tasks challenging. He was then diagnosed with hypermobility in his fingers and toes, which partially explained this, but he did not pick up skills as fast as other children his age. His movements appeared very childlike and he had a toddler gait for quite a few years. He walks on his tiptoes still.

By the time he started nursery at 3 1/2 he was already way behind his peers. Other children found him quite odd as he did not play the same way as they did, or have the same interests. He was happy enough playing alongside them, without actually joining in, and doing his own thing. Academically, his skills were much lower than others’ but he was very good with recognising shapes. He knew all the letters of the alphabet before he went to nursery, but the other children swiftly overtook him whilst he struggled to learn concepts and apply knowledge.

He has always related well to adults and gravitated towards them, as he was happy to let them lead. In primary school, he had additional personal teaching assistant support throughout, which increased as he moved up through the school. He generally was very happy at school and his behaviour and effort was exemplary. He usually played with younger children, as he related more to them than to his peer group.

At just over six he was diagnosed with autism spectrum disorder and moderate learning difficulties and we fought to get him an EHCP (education and health care plan) to guarantee his support at school (he is in mainstream).

He has always been extremely tall and has been off the growth charts for his height. His weight is just on the top line of the charts but he is usually classed as overweight. It is difficult, as people who see him and meet him for the first time automatically think he is older than he is, but cognitively he is a lot younger than his chronological age. He is also very sensory in many ways. He has a very high pain threshold generally (hyposensitivity) but has some areas of his body that are hypersensitive as well. So he wasn’t bothered when he broke/burned his arm but if you touch the back of his neck or he gets a small nick on his hand then you would think he would need the air ambulance the amount he complains! His proprioception, vestibular sense, and interoception are all poor. The last one means that he doesn’t recognise feeling full when he eats. The only time he will stop himself eating is when he starts to feel ill, as he has eaten too much.

Daniel has always been extremely charming and has a great sense of humour. When he laughs you just can’t help joining in along with him. He often has his class and teachers in stitches! Sometimes he doesn’t

realise he is being funny and doesn’t always get it himself, but he brightens up anyone’s day. He has an amazing way about him and he uses his charm to its full advantage. He relates extremely well to adults, the elderly, and young children.

Daniel got his TBRS diagnosis just after his ninth birthday. The geneticist had suspected something, but all tests had come back negative for approximately six years. We took part in a study called Deciphering Developmental Disorders and it took more than two years for them to report back with the diagnosis (though at that point it was called DNMT3A overgrowth syndrome). It explained and brought together all of his peculiarities and diagnoses, and gave us an explanation for them, so it was a relief. But at that point nothing further was known about it.

We were then put in touch with Dr. Kate Tatton-Brown and she mentioned that she would be at a conference in Warwick, UK, that October (the Child Growth Foundation conference). We signed up without realising that this would be the first meet up of families with TBRS in the world and it was an incredible and life-changing event. We hadn’t at that point done any research after getting his TBRS diagnosis so meeting other families was not something we had prepared for—what an unbelievable weekend that was!

Following that conference it was recommended to get a baseline echocardiogram and it turned out that Daniel has a mild heart condition (mitral valve insufficiency), for which he is being monitored. We never would have had him scanned, as he showed no symptoms and the consultant said he never would have been picked up without the TBRS diagnosis.

Daniel is currently monitored by an endocrinologist and has had a couple of bone age X-rays done that showed his bone age ahead of his chronological age, which should indicate he will stop growing earlier. The doctor checked last year to see if puberty had begun and noticed that one of his testicles wasn’t descended correctly and so he had a procedure to rectify that. At age 13, he is now comfortably the tallest in the household (and a foot size to match)!

He was nearly 11 before he was dry through the night so we needed adult size nappies for a while, but we bribed him with a new bed and he then was suddenly dry overnight! Through the day he had accidents, which were frequent up until about age six but then gradually tailed off until age 10. Most of the time they were the result of his poor body tone and they happened when he laughed.

He has always been slow to pick up skills and often needs motivation to do so. His main obsessions are watching TV (usually Scooby Doo) and food, so we work around these.

We have always been very determined that he does as many normal activities as he can and we do push him a lot to do them (sometimes he does complain!). We don’t usually let him give up, especially on physical activities. He is a very good swimmer, he can ride a two-wheeled bike, he shoots with us at archery, and he can ski almost parallel. He still goes to gymnastics, he used to do Judo for a number of years, and he has been in Scouts from six years old—including going away for camps (in the last couple of years without parents, first with his brother and then by himself). He is often not confident in his own abilities, especially at first, but we persist with them and find that his confidence grows eventually. He has been on adventure holidays and loved all of the activities. His balance, co-ordination and size are issues but we find that he does get there in the end!

He is an amazing personality, full of charm, good humour, and sunny temperament. He is also a pretty handsome young man (if I say so myself) and he is such a happy person that he lifts everyone else by just being around. He does this totally unconsciously but it’s a skill few have, and we hope that this is what will get him through challenges he will have to face in the future.

Written by his mum Helen.

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