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Matthew's Story

 

Matthew was born on December 14th 1984 to my Mum Kim (21) and Dad David (22). Also waiting at home for him was an older brother Stephen 14 months.

 

Matthew weighed just 5lbs 13 at birth, both my parents thought Matthew looked different but nothing was suggested by any medical staff. Everything was fine at home for the first few weeks, Matthew was a slow feeder but mum just put this down to his small size. 

 

When Matthew was six weeks old he had a temperature and started to convulse, he was taken to hospital and it was at this point he was kept in for observation. The staff started asking questions, on his chart at the end of his cot the letters FLK were ringed...

 

When my parents asked what this meant they were informed it stood for 'Funny Looking Kid'! Matthew had a lumber puncture & chromosome test all results came back clear and my parents were allowed to take him him home.

 

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From here on Matthew was a very poor feeder, he had little weight gain and was always crying (probably due to being hungry). It would take up to an hour to get two ounces of milk into him, he didn't sleep and would just cry continuously. At 9 months old Matthew’s health visitor advised my parents to take a week away with Stephen and arranged for Matthew to be looked after by a local lady who offered respite care.

 

This lady then introduced a lot more solid foods to Matthew and helped him with his sleeping routine. It was at this point Matthew really turned a corner and was a very content happy baby! My parents were later referred to a paediatric nurse who said Matthew had a 'bizarre' mouth pallet and possibly a heart murmur, but again this came back negative. Matthew was then seen at Great Ormond Street hospital and the Wolfson Centre to see geneticists to try and diagnose his condition, he wasn't developing at the normal rate for a child of his age (now 2 years old). After all the tests came back negative my parents felt that as Matthew was such a happy young boy there was no benefit of continuing with the tests, and thought it would be best to leave it here and if Matthew wanted further tests when he was older they would revisit this at a later date.

 

Matthew grew up with all the now recognised signs of Kabuki Syndrome - fine and gross motor skill difficulties, lax joints which affected his coordination, mild visual perceptual difficulties, speech problems with pronunciation, etc. He had a (SEN) statement of special educational needs and went to a school with a unit for special needs children. He loved school and singing: he found it hard to write so used a keyboard. He had lots of friends from the unit and loved being in a routine. He didn't particularly like change and found it upsetting when returning to school after the summer to a new teacher, but once settled back in again he was happy. He went on to a secondary school also with a unit and had support in place to help him with his poor organisational skills and archived low grade GCSEs in a couple of subjects and was awarded a certificate of achievement. From here Matthew went onto college and did a life skills course.

 

Mum received a letter when Matthew was approximately 20 from a Dr Blair of John Radcliff asking if they could do some tests on Matthew as genetics had moved on a great deal since early days. As we were unsure at this stage of Matthew’s condition my family and Matthew agreed it would be interesting to now see if we could find a name for his condition and see if it would have any knock on effects to any children born into the family by Stephen or myself. Doctors initially thought Matthew had a form of Down’s Syndrome: they used old photographs and new blood samples and went off to research into Matthew's case.

 

In 2005 Dr Blair personally contacted my mum and revealed that it was in fact Kabuki Syndrome. Matthew was delighted he had a name for his syndrome and took great pride in telling people. Matthew has since gone on to live in independently of the family home: he lives with two women of a similar ages with Down’s Syndrome and has some supported care. He had gained an NVQ Level 3 in childcare (which he had support for organisation and classroom assistance) and works full time voluntary in a pre-school nursery for children with learning difficulties, where he is a valued member of the team. He enjoys annual ski trip with 'DSUK' and is shortly off to California and has been in previous years to Vegas. He attends local clubs and pop out on a Friday to a local bar and club with careers and other adults with learning difficulties.

 

He is a wonderful inspirational young man who is loved by everyone he meets: he hasn't a harmless bone in his body and would do anything for anyone. This does mean he is a vulnerable young adult, but he's well-loved and we look out for him. The first nine months were tough on my parents but the rewards have all been well worth every second.