Daniel was born in March 2001. No issues with the pregnancy and myself as the dad was very excited. I made a very big decision to move from the Forest of Dean to Scotland. The previous year just saw the loss of my dad, and I wouldn't say boo to a goose, I was very shy.
When Daniel was born we noticed his Private area had not formed right which meant he would need an operation around the age of 3 to correct this. At this stage we did not know that Daniel was going to have additional support needs. His small toe was also the same size as the big toe.
Around 3 months we noticed a hernia, and Daniel had to go in and have emergency surgery to correct this. It was very worrying, but he came through fine.
As the months went on we started to realise that something was not right. Daniel had low muscle tone from the waist down and was starting to show a developmental delay. At this point we were referred to the Genetics. A number of tests were done, and Daniel was found to have a balanced translocation inherited from myself, however because it was a balanced translocation this did not explain the reasons for his developmental delay. A number of tests were done which included an MRI scan, an EEG and nothing showed up. We could not find anything with the chromosomes. At this point the genetic counsellor said to go home and enjoy Daniel, and one day we would have an answer.
Over the years Daniel started to show clear signs of developmental delay and we could see a range of possible conditions such as ADHD and Autism, however he never fitted any of these criteria. Daniel started walking around the age of 2 and 1/2 years old. Daniel started nursery at the age of 3 1/2 at the special needs school.
When Daniel was school age we just felt that Daniel was too advanced for the special needs school, however not advanced enough for a mainstream school. Throughout Daniels school he did well in school and was always a pleasant young boy who worked very hard. Daniel's speech was very limited and sometimes it was very hard to understand what he was saying, but he was very patient and kept going over and over until you got what he was saying.
At home Daniel was very challenging. His behaviour was extreme. He would bang his head off the walls and bite himself and we found this to be challenging. Daniel was offered respite where he went with a family. One weekend overnight and the other weekend he would go on a day's support. This allowed me and my wife to have some quality time because things were very hard. Daniel's sleeping was not good and he was awake most of the night. I was working in a local post office as a manager, but we managed to enjoy life and have a number of holidays abroad, which included Disney World and we went to a number of Spanish holiday resorts, but Daniel struggled when it came to meal time and we found this hard work.
In 2008 Matthew came along which changed everything. I will follow up Matthews story, but this was the start of finding out a diagnosis. After again spotting that Matthew was following in the same as Daniel. further bloods were done and this eventually discovered a very small part off the chromosome 9 deleted. It was known as 9q34.3 Deletion. We then went to the internet to try and find out some more information and came across another Family in the Uk with the same diagnosis. We also wrote off the Dr researching the deletion who was Dr Kleefsra. When we had the diagnosis we also found out that mum too had the same deletion. There were then questions around how mum was functioning as "Normal" and could do things for herself. We were then back in touch with the Genetics who did a biopsy on mum and sent this to the Netherlands to Dr Kleefstra. The results came back that mum had a Mosaic Deletion so this did not affect her like the two boys. It was more the mental health side of things. When mum found out that she was the carrier of the chromosome deletion, she found it very hard to come to terms, however I had lovely boys who I think the world of. Irrespective of them having additional needs. Daniel transitioned out of school at the age of 18, and he is now living in his own house with 24/7 support. As to the story behind this, I will cover this in the challenges and issues I face as a parent. However Daniel at the moment is doing well. He has been attending College since leaving school and has done very well.