My son Jack was born in 2011. The first we knew all was not right was when at birth the doctors said he couldn't hear. We didn't know why at that point. Things continued to be difficult, unable to learn to speak, late developing physically, eating was a challenge as liquid would come out of his nose. We went from doctor to doctor trying to find a diagnosis... then at the age of 3 a Pediatrician diagnosed Jack with a submucous cleft palate. This was the start of the unravelling of his underlying condition. Genetic testing was also advised, as doctors often experience submucous cleft palate being linked to genetic disorder. After many anxious weeks of waiting the test came back diagnosing Jack with something called '22q Deletion Syndrome'. If you've never heard of 22q, you're not alone, it only occurs in about 1 in 4000 births. 

My wife and I were reeling from the news... what does it mean? Will he be ok? What do we do next? There was so little information! That's when we discovered Max Appeal. Max Appeal is a UK charity focused entirely on supporting those with 22q both as children and in adult life. They do this by raising awareness with health care providers, understand the care pathways for those with 22q, enabling young people to access support, working with organisations to provide lasting change and to improve the application of research. But most of all... they provide a warm arm of support for those who just don't know what to do, who for most, are at the point of despair.

Jack is now 10. He's not been short of hospital visits and operations and will continue to do so for the remainder of his life. However he is also a vibrant, charismatic, loving boy with something to give to anyone who takes the time to get to know him. He will go to senior school next year, one that meets his needs and he is truly the bravest person I have ever met.

All those with 22q deserves support and therefore Max Appeal needs all your support to continue their fantastic work.

Please support me with as little or as much as you can spare, it all counts!! I shall be supported by my buddy Gavin Jones, whom without I doubt I'd be up to the test. Gavin is affectionately known to Jack as 'Garin'. As he couldn't say the name 'Gavin' for a few years, so called him Gary instead... Garin is an amalgamation of both!  

100 miles is a big deal for us! We do ride. However my longest distance is 40 miles and I've only done that once!… So it will be tough for both of us, very very tough. But we will do it... please make it worthwhile!

For a little more detail on 22q Deletion Syndrome please read on...

22q11.2 Deletion syndrome or 22q (also referred to as  DiGeorge syndrome) is a disorder caused by a small missing piece of the 22nd chromosome. This tiny missing portion of chromosome 22 can affect every system in the human body. 22q can be the cause of nearly 200 mild to serious health and developmental issues in children. It is often times not diagnosed or recognised as the cause of a child's health and/or developmental issues for years. It is believed to be the second most common genetic disorder behind Down's Syndrome, yet most have never heard of it! Because each person diagnosed with 22q presents a unique set of the possible 180+ symptoms, it is difficult for even the best doctors to recognise. Many times, this scattered collection of issues impedes the proper diagnosis for years. This knowledge has yet to catch up to the general public or health care professionals. This leads many to believe the 1 in 4000 estimated number of children born each year with 22q, is likely a gross underestimation of the actual numbers.

You may be surprised to learn that the issues most commonly linked to 22q are among some of the most commonly recognised health issues for newborns and children worldwide. This list includes but is not limited to the following: growth delays, feeding problems, congenital heart disease, gastrointestinal difficulties, serious breathing concerns, cleft and craniofacial issues, calcium deficiencies, immune deficiencies, kidney problems, and skeletal anomalies. This list also includes the possibility of speech, developmental and cognitive delays, as well as ADHD, Autism and many anxiety-type disorders. 

Early diagnosis of 22q deletion syndrome is the key to properly addressing all 180 issues which can be associated with the disorder.