Toby was born 1st Sept 2005 at 35 weeks weighing just 3 lb 2 oz. He spent the next 4 weeks in neonatal where he underwent various tests to figure out why he was so small and why he was silent. He could not feed without a tube and failed his hearing test. They performed a lumber puncture on him to rule out meningitis , which was luckily negative.
At 4 weeks old, managing to have 2oz of milk at a time and still weighing only 3lb 14oz, he was allowed home. A lot of hard work was ahead of us to make sure Toby could grow into a healthy little boy.
At 6 months old; Toby was prescribed his first set of hearing aids for a moderate hearing loss.
A geneticist from the womens hospital in Birmingham took Toby’s case on to try and find out what linked all his issues together. These included, silence (not even a cry!), failure to put any weight on, mottled patches on his skin, hearing impairment, very floppy muscle tone, webbed toes and misshaped fingers. After research, tests and finally a skin biopsy. Toby was diagnosed with Diploid Triploid Mosaicism, a chromosome disorder where some cells contained 46 chromosomes and others with an extra set of 23 chromosomes, making 69 in total. This was a very emotional time for all the family with lots of unanswered questions about how he would be in the future. This condition is still unknown as it is very rare with only 70 known cases worldwide, only 5 of those in Britain.
What followed from his diagnosis was years of hospital appointments, therapy sessions, special needs playgroups and operations.
First was to find out why he was silent. After investigative surgery at the age of 2, he woke up from the anaesthetic with a cry, a very faint one but there was definitely noise, the first we had ever heard! At this point he confused the doctors because they could not find out why he had been silent. By putting the tubes down his throat it must have cleared something/ woke up the voice box? Whatever it was, we were encouraged to allow Toby to be as noisy as possible from that day! Many speech therapy sessions followed, singing, rhymes and repeating sounds. With hearing impairment and speech delay, it has been very hard for him to eventually be understood. He learnt Makaton sign language to help along with lots of encouragement and perseverance. With the support and intervention of professionals, his speech has progressed with only a few sounds that he finds particularly hard. These were thought to be as a result of a cleft pallet.
Part of Toby’s delayed speech could partly be down to the low muscle tone that has affected the rest of his body.
Toby has had 4 surgeries on his eyelids to correct Ptosis (droopy eyelids). The muscles in his forehead now do the work for his eyelids with silicone rods attached to muscles. This has made a massive difference, not only to his facial features but; also to the aches in his neck that were caused by holding his head up to be able to see properly.
His hearing that we hoped would improve sadly has not and after having a cholesteotoma (a growth behind his eardrum) removed at the age of 4, further investigative procedures and deep cleaning under general anaesthetics; it was agreed that he would need Bone anchored hearing aids (BAHAS). A lengthy operation fitting screws into the mastoid bone for aids to be attached to. Finally, after 3 years of discussions he had the operation in March 2018. This has made a massive improvement with his hearing. He still gets many ear infections but they no longer affect his ability to hear.
Toby has attended many appointments with play therapists and childrens services to help him with this separation anxiety from myself and frustration at being different. He has always chosen adult conversation above playing with his peers. He has found it extremely hard to make friends with children his own age.
For Toby, having to deal with myself and his father splitting up at the age of 6 was not an easy time and caused a set back with his anxiety and aggression. For 5 years I brought Toby up by myself, being sole carer and parent. Any child having to go through a break up of their family is hard but, for a child with special needs its extremely confusing. Through this time I have also found it extremely hard to be a parent of a special needs child, juggling therapy sessions, hospital appointments, physio, operations and still trying to work and run a home. Toby’s cuddles at the end of hard day made it all worth it.
Toby now attends a special school which has helped with this separation anxiety and frustration. Being taught in smaller class sizes, with staff who are trained accordingly has been an amazing change in Toby’s life. We now look forward to school instead of it being a major trauma.
As Toby has grown, the true characteristics of his condition have developed. At age 5, truncal obesity started which has continued to get worse. His feet however, have not grown; in the last 4 years, and having a large frame on very small feet (Size 2) is not easy. He suffers a lot with pains in his feet, he does not have a lot of grip with his toes and the weak muscle tone in his ankles means he slaps his feet down when he walks. The pain in his knees and hips has increased due to changes in bone growth. His left leg being nearly 2 inches longer than the right one has caused his limp to get worse. After numerous scans and appointments with specialists, Toby has recently (August 2018) undergone 8 plate surgery on his legs. This was a 4hour operation where metal plates were fitted to his bones to stop his left leg growing and give chance for the right leg to catch up. This now needs regular physio and scans to ensure bones are growing accordingly; a reversal operation will take place over the next couple of years.
The one condition which is common in diploid triploid children is the onset of scoliosis (curvature of the spine). This has quickly worsened over the last 2 years. Now starts another set of specialist appointments, MRI scans , x rays and surgery to straighten his spine in approx. 12 months time.

Toby’s physical needs are always going to be an issue for him to have to deal with as he gets older. Part of his condition means his arms and hands are a lot smaller than other people his size and are unlikely to grow in accordance with his body growth. This makes one thing very hard for toby, the toilet! He is unable to clean himself as it is physically impossible. This is something I have always helped him with. This has not been an issue during his younger years but, now, as he becomes older and is thinking about his teenage years and adult hood he should be able to have some privacy. Why shouldn’t he be able to use the toilet like any other 13 year old? The only way this is going to be possible is to have a self cleaning toilet fitted in the house. This however comes at a price that unfortunately we just do not have . I work shortened hours during the week in order to care for Toby and funds needed are just not available. Toby has been on the list with occupational therapy for an adapted toilet seat for over 12 months now which sadly has still not happened. Looking into these seats, they are not robust enough for Toby’s growing body. Fully washable and drying toilets are going to be the way forward for Toby to help make him feel like everyone else. It is also something that really needs to be in place before he has his spinal surgery, to make life a little easier.

Well, that is Toby! Life is not easy for him but he manages to do what he can with a smile on his face and there is always a song or a quiz ready. Life, I am sure will continue to change for him as he gets older. Will he ever live on his own?, be able to look after himself and be able to work? Who knows! For now though we need to make his life as easy and normal as possible. He deserves that as much as everyone else.

Thank you for taking the time to read about Toby and his condition.