RARE DISEASE SEMINAR
Hi, my name is Rob and I have a rare disease. [encourage people to say ‘Hi Rob’] That’s my only qualification for this. I do not represent any company nor am I getting paid to be here. I say that because some people don’t seem to understand you can try to improve the world without an agenda.
My goal with this gathering is to bridge the gap between the
physical affects of rare diseases and the mental health of patients and their
care-givers, who have to deal with it all. I got this idea from a Facebook
support group for the condition I have, when I saw people asking questions about
dealing with Depression because of the illness. Doctors and specialists tend to
only focus on one area, whether it be physical OR mental. My hope is to help
gain awareness of the issues people like me face.
I am not a statistician, therapist, nor expert in this field.
It’s just something that I live with daily and want to bring attention toward.
I have led a support group for people going through various everyday
situations, but it was not focused enough to make me feel fulfilled.
[pause]
So, what exactly is a rare disease?
A rare disease is defined as one that affects less than
200,000 people in the US. Collectively, 1 in 10 Americans suffers from at least
one of the more than 7,000 that are known. Some examples are cystic fibrosis,
which affects the lungs and pancreas, Huntington’s disease- an inherited
neurological disorder with no known cure, and spina bifida- a birth defect due
to complications in developing the spinal cord. Children make up about half of
the afflicted, with any form of childhood cancer being counted as a rare
disease.
According to the National Organization for Rare Disorders
(NORD), only around 5% of those have FDA-approved treatments. Five percent.
That’s it. Plus, since rare diseases are under-funded and under-studied, it can
often take sufferers several years just to get a diagnosis, all while accruing
enormous financial debt, because insurance companies won’t pay for people who
are undiagnosed. With organizations like NORD or the Pennsylvania Rare Disease
Advisory Council (PARDAC), getting help is possible, though you’ll have to seek
it out and be persistent. Pennsylvania was among the first of now-32 US states
to adopt a rare disease advisory council. The first one was North Carolina,
which established it in 2015. That’s only 11 years ago, so hooray for progress!
Collectively, rare diseases affect over 300 million people
worldwide, about 4% of the global population. Of course, numbers vary, so those
might be too high or low.
Rare Disease Day is the last day in February because every
four years, it’s on the rarest day of the year. It was founded in 2008 by
Canada and several European countries to raise awareness for rare diseases. Today,
hundreds of organizations in over 100 countries participate by hosting fund-raising
walks, spreading the word on social media, and even lighting up buildings in
pink, purple, blue, and green- the colors of Rare Disease Day.
And now, my story: I was diagnosed with a nervous system
condition in November of 2024 called heredity spastic paraplegia: HSP for short.
More than 90 types of it are known and it affects up to 30,000 people in the
US. HSP has made my mobility slow and awkward. The disease is degenerative and there
is currently no cure. “Luckily” for me, it affects everyone differently. Though
I struggle with it all day every day, I am not in need of a mobility aid or
anything like that. Cold weather tends to make symptoms worse, so Winter is an especially
tough time for me.
This was caused by recessive genes from both parents, who
never showed signs of having the disease. They cause protein build-up in
mitochondria of nerve cells. In simple terms, the neurons responsible for my
leg movements are deteriorating. My hips are bad. I have extreme reflexes. I
sometimes lose balance and coordination. You know that
tapping-your-knee-with-a-rubber-hammer thing doctors do? My reaction to that is
excessive.
HSP affects up to 20,000 people in the US, though the actual
number may be higher due to its similarities to other afflictions. There’s also
something called PLS- primary lateral sclerosis- which is closely related to
HSP and is even rarer, only affecting up to 500 people in the US. The main
difference is that PLS is not hereditary. PLS is like a slow-moving version of
ALS- Lou Gehrig’s Disease.
I first noticed something was off while jogging, which I
used to do fairly often. It was taking me a bit longer than usual to start and
stop. This wasn’t prohibitive, but I did jog regularly enough to detect that there
was some kind of issue. I thought it was due to lack of mobility in general, so
I did squats more frequently and moved my laptop onto a box so I could stand
while using it. Obviously, those things didn’t work. This was about seven years
ago. Now, not only can I physically not jog, but I can’t move quickly in any
capacity: jumping, dancing, going up or down stairs, etc. This has never been physically
painful for me, but has been limiting.
Within HSP being a rare disease, I have a complex strain of
it, which affects my speech, though it sounds much worse in my head. It also
gives me difficulty swallowing (everyday; never with food or drink), and
occasional bladder urgency, which hasn’t really affected me but is always a
thought. I have to know where the nearest bathroom is, even if I don’t need it.
And speaking of thoughts, my father had Parkinson’s Disease,
which has thankfully been ruled out for me, though my current symptoms and the
ones he exhibited in the beginning of his affliction match, so it’s always on
my mind even though the idea has been eliminated.
I feel like I have an even rarer disease because I’m also
dealing with some mental conditions. I have Depression (thanks, Mom). I also
(probably) have a combination of autism and ADHD (sometimes called AuDHD),
which leads me to often think in contradictions. For example, I crave social
connections but tend to avoid people. This has made living with HSP more
difficult, because it’s taken away the self-confidence I had. I exercise and/or
stretch every day, but it hasn’t helped. I’m reminded of the physical therapist
saying that maintenance is the goal. I often get reminded of when my physical
therapist said maintaining is the goal, not improving. I understand the concept,
but simply getting out of bed thinking, ‘That was a little easier than it
usually is’ would be incredible.
I think my main issue is that nothing I’m dealing with is
“extreme” enough. By that, I mean there’s nothing “so wrong” with me that it
garners attention. For an example of a physical thing: It’s not like every time
I walk up stairs my left leg falls off. Would that be better? Of course not. But
at least it would be something to focus on. (Apparently, my leg muscles are in
“good” condition, which is nice but adds to the frustration of it all.) For an
example of a mental situation: I went to group therapy and a common topic was
Depression. Some of the patients talked about not getting out of bed for entire
weekends. Depression may be an issue for me, but not like *that*. Also, public
speaking was a problem for a lot of them. They would be amazed that I’m doing
this.
Another source of frustration is the idea that my disease
looks and sounds a lot worse in my head than in reality. I’ve worn a leg brace
or carried a cane, not because I needed to, but I often felt like I looked
drunk upon getting up. The idea was that having those things would at least
give me an excuse for seeming that way. ‘Oh, he’s got a leg brace, so he *must*
have some kind of issue.’ Also, neither one of those helped me feel better, so
there’s that.
Dealing with a rare disease has been a lot like going
through the stages of grief. The first is denial, which serves as a buffer
against emotional pain. I didn’t think this could happen to me. Other
people deal with such things, but why would *I*? (Statistics have to come from
somewhere, huh?) The second stage is anger, which I definitely felt (and still
feel) when I am unable to do things that I used to with no problem. The third
stage is bargaining- I found myself saying "What if" or "If
only" a lot. I would even try to reward myself sometimes. “If I can make
it up the stairs without stumbling, I can buy that new book.” The fourth is Depression,
which is something I have to deal with anyway. There is a profound sadness that
goes along with not living “normally” anymore. And finally is the last stage- acceptance.
I may never be able to jog or jump again. I have the urge to go dancing, but
physically cannot. My socks and shoes will always have holes because I don’t
lift my feet up appropriately. Accepting something doesn’t mean you have to
like it, but it’s reality and doing so is the only way to move forward.
[breath]
So, that’s my situation…
I know I’ve focused on HSP, but it’s unfortunately what I know
best. But I want everybody who’s dealing with a rare disease to get the help
they deserve, whether it’s physical, mental, or both.
If there are any questions or comments, please say so and
the discussion can begin. If you have things to say but would rather not do so
out loud, use the paper and pens provided and I will read them after this
meeting. Please include your name and e-mail address, or not, if you’d prefer
to remain anonymous.
I’ll conclude this with two things:
1)
If anybody would like to share their experience
with a rare disease, please feel free to do so. I know not everybody is as open
as I am, so you can share as much or as little as you’d like. You can come up
here or I can bring a microphone to your seat if you’d prefer.
2)
A question: Where do you think this should go?
Is it something you’d want to be involved with or just attend? Should it
continue? What kinds of things would you like to be available to those
struggling with rare diseases?
Thank you for listening.
