The other day at the market, I ran into an old friend. Our children had gone to elementary school together so, of course we asked about each other’s children and college came up, which led to Olivia’s health. I explained a little about what was going on and she said something that I knew everyone thought, but few said, “At least it’s not cancer! It’s not like you’re at hospitals and doctors all the time.” Of course, as an advocate and a mother, I had to respond.
These statements hold so many common misconceptions about both rare diseases and cancer. Most cancers are rare and now that DNA sequencing is here, treatments for cancer will likely become targeted toward specific mutations as opposed to location of the body. Cancer treatments will become more effective. Now let’s compare that to rare diseases. In the United States, rare diseases are defined as a disease affecting fewer than 200,000. There are 7,000 different rare diseases. This sounds like a lot, but if you consider the above statement about specific mutations for cancer, even more cancers will fall under the definition of a rare disease. Many rare diseases come with the risk of developing cancer, a double whammy. Olivia has had three tumors removed and biopsied, all benign. There are few cancers that don’t have some type of treatment available. Only 1% of the 7,000 rare diseases have a treatment. Try to imagine being told your child has a very rare disease and there are no treatments to heal them, but it happens all the time. No treatments, few doctors, fewer answers. With so many hoping for a cure, we are hoping for a treatment.
I would also like to point out that having a rare disease most certainly means many trips to many doctors many more times than I would care to count. Olivia’s doctors include: geneticists, cardiologist, orthopedic surgeon, neurologist, neurosurgeon, ophthalmologist, rheumatologist, podiatrist, oral surgeon, maxillofacial specialist, dermatologist, pediatric surgeon, gastroenterologist. Then there is physical therapy several times a week.
Nearly half of all parents of children with a rare disease are accused of neglect, abuse, Munchausen Syndrome or all of the above. Many rare patients are labeled as drug seekers or as having a somatoform disorder