Nager Syndrome ( acrofacial dysostosis) is a rare genetic disorder involving physical anomalies. The facial characteristics include downward slanting palpebral fissures (eyelids) absent or underdeveloped lower jaw, malformed outer and middle ears, cleft palate, absent lower eyelashes, scalp hair extending on to the cheeks.
Upper body defects include underdeveloped or missing thumbs and occasional absence of the radial limb. Other limb anomalies such as limitations of the elbow extension may occur. Legs and toes may also be affected. Some internal anomalies exist including stomach and kidney reflux. The severity of the syndrome varies.
There have been fewer than 200 documented cases of Nager syndrome world wide!
Since I have been born I have undergone 19 surgeries to date with more planned in the future, I have had a tracheostomy, open heart surgery, cleft palate repair, hernia repairs, a jaw distraction, hand surgery to create me a thumb, a feeding tube direct into my stomach (PEG) to name a few.... I am doing very well considering what I have had to overcome :-)
For the past few years I have started to realise how I am different to everyone else, I have bad days where I am very upset and wish I could be the same as everyone else , not have anymore surgery and do everything my friends can do without needing help, support and supervision and then I stop feeling sorry for myself wipe away the tears and get on with my daily routine.
One wish I have is to be able to meet another person who looks like me, has shared a similar journey to me and for me to feel the "same" as someone else. I know I look different, I know I need extra help and support than other children, I get angry and frustrated that I need help and support, I am 8 and not a baby. I am a child who has been born with Nager Syndrome.
This is is the part where I am asking for your help!
Foundation for Nager and Miller syndrome ( www.fnms.net ) the only support group for my rare syndrome which is based in the United States of America hold a conference every few year (usually every 2 year) in America where families from all the the world attend. There is a lot of socialising within this time and there is also speakers etc. and best of all I would be able to meet a lot of people who is just like me!
My wish is to be able to attend the next conference which is scheduled for June 2015 travelling with just my mam as we know how expensive it is to travel the almost 5000 mile journey. I would be extremely grateful for any donation no matter how small you you think it is, I will appreciate every penny raised to make my wishes come true. Thank you very much for reading my story and if you are unable to make a donation could you please share my story and hopefully my target will be raised.
Wrote by Jakes mam on behalf of Jake xxxx
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