Matthew B.

Matthew was born in December 2000 . It had been a "perfect" pregnancy with no complications and no indication that anything was amiss. Matthew decided he was quite comfortable where he was and didn't want to come out, so at 42 weeks +1 I was admitted to be induced, this is when things started to go wrong. Matthew's heartbeat kept dropping and I had to have an emergency C section. At birth Matthew needed resuscitation and dismorphic features were noted. He was taken to SCBU and we were told that he might not survive 24 hours. However he did! Over the next two weeks Matthew, his dad and I had various test, but nothing was found. He had difficulty feeding (high palate), low platelet count (transfusion and extra vitamin K), Jaundice, suspected infection and a suspected bleed on his brain. However after two weeks we were discharged home with a "healthy" baby.The first indication we had that something was wrong was when Matthew failed his hearing test at 2 months old. From then it became obvious that he wasn't reaching milestones. As we were being followed up by the neonatal team he was referred for a multi-disciplinary team assessment just before his 1st birthday.We were also referred to our local genetic team who took a full depth skin biopsy and diagnosed PKS  a couple of days before Matthew's 2nd birthday.

Anyway fast forward to 2013 and I have a nearly teenager who whilst still dependant for all his needs is a very happy, chilled out young man. He can sit independently, he can hold and drink from a 2 handled sippy cup, he eats the same meals as the rest of the family, he loves swimming and is independent in the water. He has had hip surgery and does have epilepsy, but these are his only health issues.He is a wheelchair user and has attended our local special needs school since he was 2 and will stay there until he is 19.I feel very blessed to have Matthew in my life and if we can be of help to any other families please feel free to contact us.