Rare diseases list with Description FOP

Miranda the day AFTER the shot, with the reindeer cupcake she made at a Girl Guide's event. Happy once again!People with rare diseases have many challenges in common, and I’ve posted about that in previous Februaries. THAT’S why Rare Disease Day helps - 1 in 10 or 12 people is facing difficulties, and Rare Disease Day raises awareness of the problem.

This year, I thought I might introduce you to a handful of rare diseases. I’ve met and gotten to know people, or their families, with each of these rare diseases except for one (which I will note). In no particular order:

1. Let’s start with my daughter’s disorder, Fibrodysplasia Ossificans Progressiva (FOP). If you’ve read this blog before, you know that FOP causes normal muscle, ligament and tendon tissues to become converted to bone through progressive flare-ups of the condition. Throughout the person’s life, disability becomes more and more pronounced as joints become locked in place by rogue bone formation. 1 in 2 million people has FOP. As for my daughter, she’s 9 years old and has FOP bone in her neck, back, shoulders, both elbow and one knee.

2. The doctors who treat FOP also treat an even more impossibly rare condition called Progressive Osseous Heteroplasia (POH). POH causes bone to form in skin, and then to grow inward toward muscles. Much like FOP (though the genetic mechanism causing it is quite different), POH causes progressive disability as a result of unwanted bone formation. Apparently POH is 10 times more rare than FOP (!). This is the sole disease in my list for which I’ve never met an actual sufferer.

3. A friend of mine and two of her family members suffer from Periventricular Nodular Heterotopia (PVNH). PVNH is characterized by neurons in the brain being located in the wrong location. PVNH can cause seizures, breathing problems, joint problems, intellectual delays and other concerns.

4. I know a child who has Neurofibromatosis (NF). I believe there are 3 or 4 types of NF, but generally speaking, NF involves tumours forming in random locations in the body, including on the skin and in the brain. NF can cause blindness, learning difficulties, disfiguration and other problems. NF is one of the more “common” rare diseases, at a prevalence of between 1 in 2, 500 and 1 in 3, 000.

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Popular Q&A

If you have a rare disease and doctors want to take pictures of your body, can you say no?

also, what if they want to study you? can you deny this aswell?

You do not have to agree to be a teaching subject or have pictures taken. However, they may want the pictures to share with other doctors to get their advice on diagnosis and treatment. Generally, if they are using pictures for teaching purposes, they black out your facial markers.
They wanted to do that with my mother when I was born (surprise twin, they almost killed me.) She said no. When I went to a teaching hospital to have my own children, I said no. I still got treated decently.
However, your doctor does have the right to refuse to treat you.
Food for thought, if they study yo…

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