Rare diseases which you’ve never heard of (or maybe you have).

Posted by Karen - February 23rd, 2014

Posted by Karen

February 28, 2014 is International Rare Disease Day. Maybe you’re asking, what the heck do we need a day like that for?? You don’t know anyone with a rare disease. They’re RARE, after all. But oh, wait, wasn’t there that kid down the block…? And oh yeah, you went to school with someone who had…

In fact, between 1 in 12 and 1 in 10 people has some kind of rare disease. That’s quite a lot of people, much more than I would have ever imagined before my daughter joined the rare disease community. Individually, there are very few people who have each one of these rare diseases, but when you add together all of the 7,000 or so rare diseases… Wow.

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.

5. A neighbour and friend of mine has Klippel-Feil Syndrome. This condition causes abnormal fusing of neck and spinal vertebrae, resulting in a shortened neck. Sometimes people with Klippel-Feil have organ abnormalities, including heart problems and missing organs such as kidneys, and can develop spinal cord problems and scoliosis.  Wikipedia tells me that about 1 in 40,000 people has Klippel-Feil.

6. I know a child who has Maple Syrup Urine Disease (MSUD). This one takes the cake for probably the most memorable and interesting rare disease name… A person with MSUD can tolerate only very minute amounts of certain amino acids in his or her food and thus must eat a very carefully controlled low protein diet. Failure to follow the MSUD diet results in brain damage and then death in a short period of time. Again, good ole’ Wikipedia says that the prevalence is about 1 in 180,000.

7. I’ve known actually a few people who have Prader Willi Syndrome. Prader Willi causes people to suffer an uncontrollable appetite. If their diet isn’t carefully supervised and managed, they can grow to become very obese, and can even eat until their stomachs burst. Prader Willi also causes intellectual disability (to a variable degree), low muscle tone, scoliosis and speech delays. Frequency is about 1 in 25,000 to 1 in 10,000 people.

8. Epidermolysis Bullosa (EB) is a disorder which causes severe blistering of the skin. People with EB have to treat their skin very gently, and frequently suffer from infections which enter through the damaged skin. EB can effect eating, as the blisters can be found in the mouth and esophagus. There are a few different types of EB, and it affects 1 in about 50,000 people.

9. Noonan Syndrome cause, in varying degrees, short stature, learning problems, scoliosis, heart abnormalities, gastrointestinal problems, low muscle tone and distinct facial differences. Noonan affects around 1 in 2,500 people.

10. Undiagnosed rare diseases. In some ways, this is the most difficult category of all. There are a surprising and distressing number of people who have disorders for which a cause cannot be identified. I know of one child with profound intellectual and physical disabilities, and his family continues to search for the origin of his problem. I know of another child who is exceptionally short and suffered from a tumour which had to be surgically removed at an early age, and has a few other concerns. Again, the cause of his condition has not been identified.

On February 28, please give a thought to people with rare disease as we recognize International Rare Disease Day.

Miranda the day AFTER the shot, with the reindeer cupcake she made at a Girl Guide's event.  Happy once again!

My daughter, who has FOP.


2 Responses to “Rare diseases which you’ve never heard of (or maybe you have).”

  1. Strangely, our daughter, who was eventually diagnosed properly with FOP, was actually diagnosed previously to the FOP diagnosis with a few of these other rare diseases that you mentioned!

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