February 29th - Rare Disease Day

[Idine Espanyas]

Rare Disease Day


Rare Disease Day was created in 2008 and is observed on February 28th, or February 29th in a leap year. This celebration is a global movement to advocate for equity in diagnosis, therapies, treatment, healthcare, and social opportunity for people living with rare diseases. Throughout this month, we will be sharing stories of members in our community and others who are impacted by rare diseases, and their struggles and successes in accessing proper diagnosis and treatment. Please feel free to share your own stories if you or someone in your real life community is impacted by a rare disease.

What is a Rare Disease?

A rare disease is defined as a disease that affects fewer than 1 in 2,000 people. According to rarediseaseday.org, here are the common challenges faced by those diagnosed with a rare disease:

“The lack of scientific knowledge and quality information on the disease often results in a delay in diagnosis.
The need for appropriate quality health care engenders inequalities and difficulties in access to treatment and care. This often results in heavy social and financial burdens on patients.
Owing to the broad diversity of disorders and relatively common symptoms which can hide underlying rare diseases, initial misdiagnosis is common. In addition, symptoms differ not only from disease to disease, but also from patient to patient suffering from the same disease.
Research needs to be international to ensure that experts, researchers and clinicians are connected.”

Resources

What is a rare disease?
What is rare disease day?
National Association for Rare Disorders

If you would like to show support, we also have some signatures that our lovely graphics team has made.

Spoiler

 

[Delara Morellin]

Thank you for bringing light to this (I'm a 1 in 10000 and didn't know it was a thing) - that the day lands on a year made me smile

 

[Idine Espanyas]

Thank you for bringing light to this (I'm a 1 in 10000 and didn't know it was a thing) - that the day lands on a year made me smile

Welcome to the club I guess? As I was researching this I didn’t even think about how I could be in the club also. https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-1-9
I mostly wanted to bring more attention to the general cause and share the story of my cousin’s daughter, Nora, who lives with NKH.

Did you have any struggles getting properly diagnosed?

 

[Toral Delvar]

This is interesting, I just watched a Webinar on "Analysis of RNASeq from >5000 individuals in the 100000 genomes project identifies new potential diafnoses for patients with rare disease" a couple of weeks ago.
The figure they gave was there are at least 6000 of them and about 1 in 17 people are affected

 

[Delara Morellin]

Welcome to the club I guess? As I was researching this I didn’t even think about how I could be in the club also. https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-1-9
I mostly wanted to bring more attention to the general cause and share the story of my cousin’s daughter, Nora, who lives with NKH.

Did you have any struggles getting properly diagnosed?

I was incredibly lucky with my diagnosis, in a really stupid "if you experience these symptoms for the love of all that is unholy, DO NOT IGNORE THEM" way.

I had my first hemiplegic migraine the weekend before I was due to see my GP for something else (I can't remember what but it was something routine like a medication review or an asthma check or something) - I've had migraines with aura symptoms since I was teeny tiny, so I didn't really think much of this one, especially as the more concerning symptoms vanished once the headache kicked in.

So yeah, routine appointment, just as we're wrapping up the doctor asks if I have any other concerns and I mention that I had a weird migraine where I couldn't really feel one side of my body, had trouble speaking and just felt wrong but I slept it off, got the headache and all's good, right? While I'm saying this, the doctor starts making a phone call to what I now know was the neurology department at our local hospital to check whether I needed to go there in a taxi or an ambulance because those symptoms could've been a stroke or something equally sinister. I had an emergency CT scan the same day which seemed fine but I had a follow up MRI scan the week after just to check (I don't know if it helped at all but there were already plenty of my brain images on record from when I had a mild TBI a decade or so prior and yes, contrary to popular belief there is something beyond dust bunnies and an endless loop of the Dogtanian theme tune between my ears!)

Got a referral to a neurologist that specialised in migraine after that, tried pretty much every available treatment and while nothing's helped there, I have got better at living with them. The worst bit is when the symptoms start creeping in but I haven't clocked what's happening yet but luckily, I have a supportive partner who'll prod me to see if I can feel it whenever I start seeming a bit "off" - he takes that job very seriously

 

[Alora Sionn]

I’m really glad you had a dr that was on top of things!!!!

 

[Idine Espanyas]

I’m so glad your doctor was on top of the diagnosis and that you have a partner who supports you!

 

[Ruslan Rynar]

The figure they gave was there are at least 6000 of them and about 1 in 17 people are affected

To clarify, they were saying that there are at least 6,000 rare diseases and that about 1 in 17 people have one of the 6,000 rare diseases... correct?

 

[Toral Delvar]

Yes. The webinar was more about detection and that because there are so many, and most have few people with them, it is really hard to find biomarkers to detect, so even if someone comes with a set of symptoms that match, it can be hard to be certain. They also talked about gene sequencing (which is where my interest came in), and how even if we can't identify simple biomarkers by blood tests, we might be able to sequence people's RNA and find genes that are associated

 

[Cahalan Sothron]

I got lucky when I was diagnosed with my special diagnosis that, when I called our local eye care facility, I got an appointment with the only doctor in our area that specializes in treating it. He jumped right on it and helped get the active phase under control. Still, there are some days when I can't see for ****, especially out of my left eye.

Rare stuff runs in the family, apparently, as my dad was also a unicorn for the last 25 years of his life. I sometimes worry about picking this up, too, since it's significantly more common in women, but there's not really anything I can so about it so

 

[Idine Espanyas]

I got lucky when I was diagnosed with my special diagnosis that, when I called our local eye care facility, I got an appointment with the only doctor in our area that specializes in treating it. He jumped right on it and helped get the active phase under control. Still, there are some days when I can't see for ****, especially out of my left eye.

Rare stuff runs in the family, apparently, as my dad was also a unicorn for the last 25 years of his life. I sometimes worry about picking this up, too, since it's significantly more common in women, but there's not really anything I can so about it so

Wow, that is very lucky. It sounds extremely uncomfortable and craptastic from the description. Are there any treatments that can prevent permanent vision loss?

 

[Cahalan Sothron]

It's mostly steroids to help shrink the tissue around the eye. There are some newer prescriptions out there, as well, but my case is not currently severe enough to need them. Really I just have to keep my eyes moist, so lots of artificial tears, and keep all my other junk under control (blood sugar/pressure).

 

[Idine Espanyas]

It's mostly steroids to help shrink the tissue around the eye. There are some newer prescriptions out there, as well, but my case is not currently severe enough to need them. Really I just have to keep my eyes moist, so lots of artificial tears, and keep all my other junk under control (blood sugar/pressure).

I'm glad that there are medications out there to help keep it under control, and also that it isn't severe.

 

[Idine Espanyas]

For this week's post, we are sharing a post written by @Alora Sionn about her journey with granulomatosis with polyangiitis (GPA). Thank you for sharing, Alora.

Granulomatosis with polyangiitis (GPA)

GPA (formerly called Wegener’s disease) is in the vasculitis family of diseases. It’s when your body’s immune system attacks your blood vessels, causing inflammation and damage in many organ systems including eyes, hearing, sinuses, lungs, and kidneys. If untreated, death occurs in as little as 5 months, although with treatments such as corticosteroids, chemotherapy, and antibiotics (to keep infections at bay from the resulting immunosuppressed state of the treatments) about 80% of those treated are still alive 8 years later.

It’s still unclear what causes it but it doesn’t have a hereditary factor, it seems to be triggered by a severe infection but exactly how and what conditions contribute to it are still unknown. Less than 200,000 cases per year are found in the US.

My first symptom was waking up one day in 2019 with one of my eyes red. It didn’t hurt at first, just the white part was red, I thought I had pink eye. This happened three months after losing my son so I just thought maybe I cried too much or rubbed my eye wrong. Steroids helped but as soon as I stopped taking them it raged back worse and more painful than before.

This began two years of intense pain and struggle to find answers, all while in the midst of the Covid pandemic when most medical services were on hold unless medically necessary, and with no diagnosis that meant I had to wait. I found out later that I was slowly dying, the only reason I lived at all was the steroid that I had to take high doses of, and which caused horrible side effects. I almost lost my eye because it was necrotizing, my local ophthalmologist finally sent me to a teaching hospital so I could be seen immediately and have surgery to save my eye. The ophthalmologist I met there saved my eye and my life, and finally diagnosed me with GPA and started me on chemo in the end of 2021.

I’ve been on it ever since and now have my life back but I will never be cured, remission is possible but I must always be vigilant for flare ups. It has also changed my life in other ways and some dreams I had for my life are now out of reach due to the medicine, but I’m grateful to still have a life, something that was not guaranteed with this disease. It’s also given me a perspective on life that I wouldn’t have had otherwise, each day is a gift. While I would have loved to miss all of the suffering I went through and been diagnosed earlier, I know that had I not advocated for myself I may never have been diagnosed before dying from it.

Resources

Vasculitis Foundation

Health Well Foundation

Australian Site

 

[Polegnyn Nemeara]

to everyone sharing their experience with rare diseases

 

[Adina al'Mari]

That sounds really scary Alora, thank you for sharing.

My partner's family has had several members with retinitis pigmentosa, so far it seems to have skipped his generation and his mom's generation, but my kids are on the watch list still because of that.

​

 

[Aduiavas Ida]

I also have a rare disease This one My rashes aren't nearly as bad as those pictures show, but most of the rest fit.
I also had the joy of it mostly affecting my lungs, so it causes my lungs to slowly deteriorate. When I got the diagnosis in 2011, they were already at 40% capacity. Now they are about 35%.
There isn't really a cure, but they can treat the worst symptoms. I've been on Prednisone since 2011, which comes with it's own problems.
My body also have several other issues, and since this is a relatively new disease (only became a diagnose in 1975, and mostly for women between 50-60) they don't really know what the long-term effects will be. The doctors have also discouraged me from becoming pregnant, not that I had any plans for that anyway. Not just because they don't know if this is a hereditary condition or not, but because my body would probably not handle pregnancy well... There is also talk of a potential lung transplant, but nobody knows for sure if any new lung won't also be affected by the disease.
I am lucky in that one of the leading experts in the world on my disease works at my hospital. But even she can't know for sure how my body will react over time. I am apparently a point of discussion in meetings involving several senior physicians, and sometimes when I am in for a control, I get a visit from medicine students who want to see me. There is also pictures of my hands and eyelids in some form of medical book, but I never got the name of which one :P
I'm trying to focus on living my best life for as long as I can, but it isn't easy, when even the simplest thing, like walking more than 100 meters, can be a challenge. Forget walking uphill. I have a motorised wheelchair, but that is too bulky to travel with, so I am dependent on others to get around more than around my own city. My father has become quite accomplished in how to navigate city streets with a manual wheelchair.

 

[Idine Espanyas]

 

[Alora Sionn]

i remember you talking with me when i was on prednisone too, it does kick your ass even if it saves you ❤️❤️

 

[Aduiavas Ida]

Yeah, Prednisone is a life-saver, but it also ruins your body in many irreparable ways. Even if I could miraculously stop taking Prednisone today (not a good idea) my body wouldn't return to "normal".

I'm glad you were able to save your eye, btw. That sounds really scary.