This is our seventh instalment from our guest blogger, who writes about various aspects of living with rare conditions. All posts under the title ‘Treasure the Exceptions’ are written by our guest blogger, pro bono. The information is supplied by members of various patient groups, clinicians etc. Whenever possible, permission is sought for direct quotations and anonymity is respected when requested.
Treasure the Exceptions. When it comes to sensory processing: We’re Rare and We Rock.*
Elliot (not his real name) has a rare childhood medical condition, commonly called Perthe’s Disease after one of the clinicians who first observed it. Perthe’s results in the necrotising of bone tissue at the head of the femur, usually just on one side of the body. This can lead to severe pain, hip deformities and swelling from blood toxins. As with many rare conditions the symptoms presented slowly and were not visible at first. Most children with this condition are otherwise healthy, especially in the early stages. So one day Elliot would be running and seem fine, but the next he’d tell his family that it was painful for him just to walk.
When he saw doctors he would downplay the symptoms because, being very young at the time, he thought that when people got ill they were taken to hospital and left there. And he didn’t want anyone to make a fuss over him, having a fiercely independent spirit. Tragically his brave soldier approach delayed his diagnosis because his Mum was viewed as having Munchausen’s by proxy. Elliot’s beloved Grandma is a dear friend of mine and both of us have been horrified by how hard his parents have had to fight for him to get good treatment, post diagnosis. Fortunately his school has an excellent SENCO who has helped a great deal. But he needs specially adapted crutches which cost his family £100, a sum which was hard for them to afford. Sometimes he needs to use a wheelchair and thankfully this was provided by the Red Cross.
Elliot is a trouper, however, and is always finding ways to give back to the communities that support him. When his school decided to devote an assembly to what it’s like to live with disabilities, Elliot asked if he could deliver the assembly and they agreed. So at the tender age of 10 Elliot became an advocate for people with disabilities and a total hero to me. His message was very simple – he just wants people with disabilities to be included.
Most patients with Perthe’s experience periods of remission, when the condition doesn’t progress and the femur starts to heal. Elliot’s family were delighted when he seemed to be getting better because once the condition has run its course, reconstructive surgery can happen. But they had a second heartbreak in store because Elliot has a rare form of Perthe’s and it has now hit his other leg too. Again his family had a fight on their hands to get this diagnosed and to get more than six sessions of hydrotherapy for him. What was his ‘good side’ is now worse than the original site of damage and he is in considerable pain. His immune system is challenged and he swells up from the toxins – so Elliot looks overweight, which doesn’t help. Despite all this Elliot is an excellent student and now mentors younger pupils. Whilst his first love was football he has now turned to swimming and he does all he can to keep a positive attitude. No one with Perthe’s – or any other disability (rare or otherwise) could hope for a more exceptional ambassador.
If you have an experience of a rare condition that you’d be willing to share (or any comments about the ‘treasure the exceptions’ blogs) please contact email@example.com. I am particularly keen to hear from any clinicians who have patients with rare conditions and from those involved in research.
*This is the logo for a new group (founded by our blogger) which was established to campaign for people with MdDS in the UK.
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