Young Jack is a one-in-388 million global super hero
FEBRUARY 28th is Rare Disease day. This is a day for our rare community to celebrate their uniqueness and raise awareness of conditions most people have never heard of.
RARE Ireland is a network for rare families in Ireland. Established in March 2017 by two mothers of daughters with rare conditions it remains Ireland’s only support network for families living with rare disease.
It was set up to improve the quality of life for families living with rare conditions, to connect families and to bridge the gap between diagnosis and receiving a genetics appointment.
Ireland has one of the worst genetic services in Europe and parents often wait up to two years after receiving a diagnosis for their child to be given adequate information on how this condition is likely to impact their child. The support of RARE Ireland and its members makes this part of the journey less isolating for families.
It’s an invaluable service to many members and a lifeline to those struggling with their diagnosis. RARE Ireland regularly advocates on behalf of their member, sharing their stories and helping to spread the word about many rare conditions and the beautiful faces behind them.
Jack O’Shea is a 13 year old boy who loves music, especially Nathan Carter and has been to many of his concerts. Jack lights up any room he walks into no matter where he is and always has a smile on his face.
Jack’s parents are Michelle and Sean O’Shea from Nadd and he has one brother, Darren. His mother Michelle is from Mallow.
Jack has a rare syndrome called IMAGe syndrome pole 1 mutation! There are only 20 people known in the world so far with this mutation.
The breakdown of the disease reads: I - intrauterine growth restriction, M - metaphyseal dysplasia, A - adrenal hypophysia congenita, G - genital abnormalities while E - stands for nothing so that’s why it’s small in the spelling.
Jack might be a 13 year old boy but is the size of a typical six year old. He has intellectual delay, oral adversity so he eats no solids and only drinks a special formula milk and water, and sometimes juice.
He suffers from a slight hearing loss in the right ear, ostopenia of the bones and the biggest medical issue is his adrenal insufficiency which is where his adrenal glands do not work so must carry around an emergency injection with him at all times in case he has a bad fall, gets very sick etc. If this is administered he must go straight to hospital because if he does not receive immediate medical attention he could go into a coma or maybe worse.
Jack takes special steroids three times daily and these are his life line and can never be missed.
Jack may be short but he lets nothing get in his way. He loves playing pool and has other interests while he has a great imagination. Jack would often put on a live show on his mother’s Facebook page singing Nathan Carter songs as he loves to entertain.
He spent a lot of his first few years of life in hospital being really sick and getting tests done with amazing staff at CUH. He still likes to give them a visit every now and then and is awaiting major surgery on his right kidney to reconstruct.
Jack was 10 years old before his family got his diagnosis of IMAGe syndrome with the wrong diagnosis in his initial care due to the rarity of the disease. Jack attends Holy Family School in Charleville and his family says they are amazing and cannot thank them enough for all the work they put in.
Jack’s mother, Michelle, has been part of RARE Ireland since the early years of its foundation and their assistance, concern and care is second to none. Last year the group asked Michelle to become a committee member and she is so happy in her role.
Rare Disease Day falls on Sunday, February 28 and last year the group spent the day with President Higgins in Aras An Uactharain, which was such a special day with such families together.
RARE lreland has helped so many families across the country with a listening ear, support and advice. If you have a child with a rare condition please feel free to get in contact with the group on Facebook.
Michelle thanks you all for reading her super hero story.