rare disease speech

 

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.