Today is Rare Disease Day. It is a day that I came to
appreciate much more a few years ago when my daughter was diagnosed with a rare
disease. When you put them all together, rare diseases actually affect a lot of
people. It is estimated that rare diseases affect 300 million people worldwide,
and that 30 million in the US alone have some type of rare disease. Hearing
that doesn’t make it seem so uncommon, does it?
When you think about the fact that most of these diseases
take a year to get diagnosed and that 95% of them do not have an FDA approved
treatment, the patients who have these diseases really struggle to get
diagnosed and then to find good care. Many times the physicians who see a
patient with a rare disease has never seen a patient with that disease before.
He may be relying on out of date information. The patient may never meet
another person who has that disease, and they may feel very alone in their
healthcare journey. When you consider that as many as 50% of people with rare
diseases are children, it is even more frightening to me. This infographic
really helps tell the story.
There are three main problems that people with rare diseases
seem to relay when asked. First, it takes way too long to get a diagnosis, as
there is just not enough awareness about these diseases. Secondly, once you get
a diagnosis, there is not a gold standard of treatment that is available or
even agreement in many cases on what the treatment should be. Thirdly, there
isn’t enough research to find treatments and cures for these rare diseases as
most research is done to find cures for more common diseases.
Today, I am very thankful for the National Organization for
Rare Disorders (NORD) for focusing on this population starting 30 years ago
today. NORD was instrumental in getting
the Orphan Drug Act passed to encourage the development of treatments for rare
diseases. I am thankful for the
awareness that today brings to all of the people who have not heard of rare
diseases. It is always my goal to teach more people about rare diseases because
maybe it will help someone get diagnosed earlier and begin treatment faster.
Of course, my passion for rare diseases began on a personal
note.
It is a morning that I will never forget. June 18th
at 8am. It came after a very long week of waiting. What originally seemed like
a pesky rash had obviously become much more. Even though the doctors thought it
was psoriasis, deep in my gut I knew that it was much, much more. As we waited
for the biopsy results for a long 7 days, I went back and forth between
convincing myself that it would be psoriasis and freaking out that it might be
something much worse. When we arrived in the exam room, we were told that the
biopsy results weren’t back yet. The nurse assured me that the doctor had noted
that she was almost sure it was psoriasis. As we are driving away, I got a
phone call to come back immediately. I knew at this moment that the news would
not be good.
As the doctor carefully tries to tell me the biopsy results,
she keeps saying this word that I cannot quite understand. Now, it is a word
that rolls off my tongue, but at that moment Juvenile Dermatomyositis was as
foreign and scary as can be. As the doctor got tears in her eyes telling us
about this rare disease that affects most of the body systems, I because very
protective of my then 11 year old daughter. She is looking at me with this
terrified look because she knows something is very wrong, and she is scared. I
didn’t dare ask more details in the exam room, as I had no idea what the answer
might be in front of my daughter. Tests were ordered, and we were sent to the
pediatrician to verify the medications that the doctor ordered were appropriate
for her.
I started googling right away and of course saw the “death”
word in many of the articles. This was not the encouragement that I was looking
for. I called a dear friend and asked him to be looking it up in his medical
journals, and he started reading to me as I was driving. In the next four weeks, I am pretty sure I
googled Juvenile Dermatomyositis at least 1,000 times. I read everything I
could get my hands on. My daughter’s doctor had never seen a case of it. Every
physician friend I know had never had a case of it. We were referred to a
pediatric rheumatologist who couldn’t take an appointment for 3 months. THREE
MONTHS!?!?! What do we do in the meantime? How do I know if something is wrong?
How do I know if the steroids you are giving her are helping? How do I know if they
are not? Three months?
It was that week that I found the Cure JM organization, a
non-profit dedicated to finding a cure for Juvenile Myositis, which is a rare
autoimmune disease that affects about 5,000 kids in the US. Without this group,
I am not sure how we would have survived the almost 3 years since diagnosis. This
group of parents works tirelessly to raise awareness, to provide support for
families, and to fund research. Most of us feel that without CureJM, there
would be little to no research done. The fundraising efforts have helped create
three centers of excellence for research and treatment, and it has even funded
the first book on Juvenile Myositis for patients.
Thank you to organizations like Cure JM and NORD for paving
the way to improve the lives of people with rare diseases one-step at a time. I
am proud to do my part in the movement to raise awareness and to raise funds
for research. I look forward to the day that there are more treatments and
cures for rare diseases, especially Juvenile Myositis.
