To everyone who kindly supported my half marathon last year I would like to update you on how the money you donated is being used. Jocelyn Eldridge, who runs the 48XXYY support group, and who is a Mum to a 48XXYY boy, is doing an amazing job organising a three day meet-up in August this year. All of the 48XXYY UK families are invited to attend and Jocelyn has even arranged for the XXYY specialist from the United States - Dr T - to be in attendance this year. I am very excited to meet her and to learn more about Noah's condition and what we can do to help him through his journey. The money that you all generously donated is going towards the cost of the meet up and the attendance of Dr T. Without your donations so many of the XXYY families in the UK might never have the opportunity to meet Dr T and discuss their child's condition with her in person.
As well as the meet up in August your money is going towards the upkeep of the XXYY website. The website is a vital source of information for XXYY families and is a secure environment in which XXYY children and families can keep in touch with each other.
Below are a few details of the specialists who will be attending the meet up in August.
Dr. Nicole Tartaglia and 1 or 2 colleague researchers are flying over from the The Extraordinary Kids Clinic at the Colorado Children's hospital. Dr T is the lead researcher in the world on XXYY and works very closely with other researchers in the Netherlands. She has written papers on XXYY and Specializes in Neurodevelopment Disorders X&Y Chromosome Disorders.
Professor Gary Butler is the UK endorsing medical professional. He is a Consultant in Paediatric & Adolescent Medicine and Endocrinology at University College Hospital in London and holds an Honorary Personal Chair in Paediatrics at the UCL Great Ormond Street Institute of Child Health.
Alongside these 2 we have Professor David Skuse from Gt Ormond St. Professor David Skuse is an expert in child and adolescent psychiatry, with a clinical team at Great Ormond Street Hospital and a research department in the Institute of Child Health.
My beautiful son Noah was diagosed 2 years ago with 48XXYY chromosone disorder. 48 XXYY is a chromosome anomaly that affects a very small percentage of boys globally and whilst our counterparts in the US have been studying this for a number of years and have amassed a substantial body of knowledge on the condition, leading the medical and social studies, in the UK the condition is relatively unknown, un-diagnosed and most importantly unsupported. We hope to change all that or at least bring hope to those at the beginning of their journey. Boys normally have 46 chromosomes in each of their cells, but boys with 48 XXYY syndrome have an extra X and and an extra Y chromosome.
This condition affects 1 in 18,000 to 50,000 boys. Each child has a different range of the symptoms listed below.
Physical symptoms include tall stature for their age, hand tremor, leg ulcers, elbow abnormalities, curvature of the little finger (known as ‘clindactyly’), stretchy joints (known as ‘hyper-mobility’), curvature of the spine (known as ‘scoliosis’), significant dental problems, flat feet, low muscle tone, low or no testosterone. Young children might to slow to crawl or walk or have difficulty picking things up.
Neurological and mental symptoms include developmental delays, speech impairment, behavioural issues, social communication disorders, anxiety disorders, depression, learning disability, mood swings, outbursts and autism spectrum disorders.
With regards to Noah himself, he is still the most loving, happy boy. He is still in a mainstream school starting year 2 in September. He loves going to school and has made some amazing friends but he has his daily struggles. He still does not have the full time one-to-one support from a special needs teacher that he desperately needs and this feels like a constant battle with the local educational authority. We are still trying to get him into the right speial needs school to cater for the varied nature of his learning and development needs. Finding him the appropriate school and getting him a place is still our biggest challenge. Outside of school he is happiest most when he is playing in the garden.
Once again thank you to everyone who donated, I am still totally overwhelmed by your kindness.