By David Hennessy
London-Irish 22 year old Sinead Nammock reached the summit of Kilimanjiro, Africa’s highest peak, last week on Thursday August 8, a climb she undertook to raise funds for the research of her sister Seanie’s extremely rare illness. Seventeen year old Seanie Nammock suffers from Fibrodysplasia Ossificans Progressiva (FOP), a genetic disorder that causes bone to grow on muscle, tendons and tissues, creating a second skeleton that imprisons the body. It is a progressive disease and there is currently no cure. Sometimes referred to as Stone Man Syndrome, the condition slowly turns its sufferers into living statues.
FOP affects roughly one in two million people and Seanie is one of only 45 UK sufferers. Because it is so rare, the government provides no funding for research into the condition. Unless the Botnar Research Centre at the University of Oxford, the only UK facility working to find a cure for the condition, receives £120,000 before the end of the year, its FOP research will come to an end. The research team there requires £120,000 a year so it is a constant fund raising battle for families like Seanie’s that have faith in its work. From Sinead’s climb, a trip Sinead paid for herself, and other fund raising ventures, nearly £35,000 has been raised since January 2013 on the Virgin Giving Site. Therefore another £85,000 is needed to reach the target of £120,000.
The family themselves have raised £75,000 since Seanie’s diagnosis in 2008.
“It’s amazing for a girl of 22 who never had any climbing experience or anything,” the girls’ excited mother Marian Granaghan told The Irish World on the day she got news of Sinead’s success. “I’ve heard of marines that haven’t got to the top because of altitude sickness. She trained for a year, she’s done brilliantly.”
The family, who have roots in Killorglin in Kerry and Kilfian in Mayo, would be devastated to see the Botnar Research Centre stop its research into FOP as researchers have made great progress in recent years and are working with a compound named dorsomorphin that stops ectopic bone growth. Although it must be tested exhaustively first, it is believed dorsomorphin could hold the key to FOP’s treatment and even cure: “It is important to keep the research centre open because it is our only hope. It is. There’s no other hope. They are working on a compound but it’s going to take years of research to make sure that as well as stopping bone growth, it doesn’t stop anything else. It’s imperative that the research continues.”
Seanie’s arms are already locked in position bent across her waist which makes balancing a problem and walking uncomfortable. The family now dread the thought of her second skeleton spreading to her lower body: “It has affected her upper body. She can still walk but it’s uncomfortable. Once it spreads to the lower part, she would have to start thinking about making the decision as to whether she would like to be in sitting position or lying position for the rest of her life. It’s horrific to have to make that decision. That’s why it is so important to keep the research going.”
When asked how it feels to be told her daughter’s condition is ‘too rare’ to receive funding, Marian says: “She’s got a life to lead like everyone else. She’s got to have hope for the future that something can be found.”
However, the Botnar Centre’s work could also be applied to other more common conditions. The centre’s Proffessor Jim Triffitt explains it could help with a range of conditions and injuries: “Of course if a cure or medication for FOP was found then this may be applicable for treatment of more common conditions where bone forms in unwanted places. This can be after central nervous system injury and in paraplegia and also seen in a fair number of cases after joint replacement procedures and other surgeries and in particular after bomb blast injuries our servicemen are afflicted with in current military conflicts.
“It may also have a bearing on treatment of heart disease in which actual bone formation occurs in major blood vessels with ageing and restricts vessel elasticity and function. If this bone formation can be reduced then vascular functioning would be better.
“Also, if we know how to control bone formation by inhibiting it, then this will lead to more knowledge of how we may actually stimulate more bone formation specifically in many common conditions where not enough bone is present such as osteoporosis. Furthermore, in osteoarthritis bone is stimulated to form in spicules that may inhibit joint function. Thus, learning how to control the abnormal bone formation seen in different conditions will be greatly enhanced by studies on FOP.”
For the full story, see the August 17 edition of The Irish World.
The Botnar Research Centre needs help to treat FOP. To contribute to the family’s cause, you can go to Sinead’s appeal at: http://uk.virginmoneygiving.com/team/climbingforacure