Learning to Advocate as a Patient

By Sunny, Septo-Optic Dysplasia, United States, February 26, 2021

Rare Disease Day 2021 photo

I was born with a congenital rare disease called “Septo-Optic Dysplasia”, which caused further complications with diagnostic names that are just as long and complicated. Basically, my pituitary gland doesn’t produce hormones sufficiently enough to sustain my body on its own, and I am completely blind in both peripherals. What eyesight I do have is limited and not very good, so I can’t legally obtain a drivers’ license, or read a book or look at screens for very long without suffering some pretty annoying headaches. Of course, this doesn’t stop me from enjoying Virtual Reality, playing video games, and creating artwork. The stubbornness of nerdy creative types like myself knows no bounds. Those hobbies aside, my favorite thing to do is volunteer as an advocate for others with my conditions, as well as rare diseases in general.

I didn’t receive a diagnosis until I was 13 years old. It was around that time when it was pretty clear to everyone around me that I wasn’t growing like I should. While my peers hit developmental milestones, I was lagging behind, becoming more frail, and frequently falling ill. My parents took me to Riley Children’s Hospital in Indianapolis, where I met my first endocrinologist (shortened to "endo" from here on).

It’s pretty common for those of us in the rare disease community to search for years before finally getting the right diagnosis, but I guess I hit the jackpot. My first endo knew exactly what I had just by looking at my short stature, developmental delays, and always slightly twitching eyes. He called for the appropriate tests, and sure enough he had been correct. I had all three indicators of Septo-Optic Dysplasia. The endo and his team explained the situation to my parents and we began the treatment plan that I would be continuing for the rest of my life.

From the time of my diagnosis until I hit adulthood, I didn’t really know much about my own disease. I knew I had to take a bunch of medications, but other than that and the annual visits with my endo, I just didn’t bother thinking about it. My parents told me that as long as I took my meds, I was just as normal as my peers. Though that was a nice thought and it allowed me to not worry about my diagnosis for most of my life, it wasn’t entirely true.

That became evident in High School when I really started struggling. It was clear to me that I had MUCH less stamina than my peers. I knew it had to have something to do with my rare disease, but I knew so little about my diagnosis, and didn’t have the resources to look into it, so I had no idea that the intense fatigue and weakness I often felt were actually known symptoms of my condition. I had to work extra hard and boost my energy with coffee every day in order to keep up. It took an extra half a year and the help of a credit recovery class, but I was eventually able to graduate.

My first job was as a clerk at a convenience store. I loved my job there, but after a while, I began getting sick more frequently, and at one point I had been missing work so often that it was starting to have a negative impact on the store, so I decided to quit and focus on my health for a while instead.

I moved into my first house with my partner, Justin, and realized that moving out on my own meant that my dad would no longer be in charge of my healthcare. It was up to me to keep up with appointments and eventually handle my own insurance. Thanks to the Affordable  Care Act, I was able to stay on my dad’s insurance until I turned 26. Honestly, that coverage very likely saved my life, because at this point I still didn’t fully grasp how serious my rare disease was, and without good healthcare, I would not have been able to afford the visits or lab tests I need. I very likely would have decided to save money by not doing everything my disease demands of me without realizing how potentially fatal that frugality could be. 

The long drive to Indy to visit my first endo wasn’t really feasible at the time, so I searched for a new endocrinologist closer to home. I found one right there in my town who claimed he knew how to treat my condition, and so I transferred to his care, where I remained for the next couple of years.

He convinced me to start taking growth hormone shots again as an adult, and my quality of life greatly improved. About a year into his care, I had returned to the workforce thanks to the increased stamina granted by the shots, but after only around six months of work, my health declined again.

I became sick more frequently, and my body felt as though it were getting weaker every day. I experienced my first diagnosed Adrenal Crisis, a complication from my condition which can be fatal if not treated properly. I eventually became too sick to continue working, and I had to quit. Having lost another job due to illness, I decided to seek disability so that I could support myself financially since it was clear to me I was not able to work for a paycheck.

When I expressed my concerns to my endocrinologist, he told me that he refused to support my disability claim. I felt like I had hit a dead end. One of the nurses on his staff noticed what was going on, and privately told me that she thought I should seek disability despite what he had said. She told me that he had a personal issue with disability support in general, and that I should seek a second opinion.

So, I did. And it’s a good thing, too. Because I wasn’t very well educated on my own condition, I had no idea how poorly he had been managing my adrenal insufficiency. I got a second opinion from a new endocrinologist, and she informed me that he had me on such a high amount of steroids that If I had remained on that dose, the consequences could have been devastating for my health. 

Needless to say, I transferred to her care immediately. She got me on the proper dosage, and she did a great job managing my care, answering my questions, and helping me to understand my rare disease better. She also supported my disability claim, which I eventually won. I remember her saying “Your full time job is being your own pituitary gland.”

This was when I started to really grasp what my diagnosis was, and my experience with the endocrinologist before her inspired me to learn all I could about it. While looking for information on my condition online, I realized that the only resources available were boring medical journals filled with complicated jargon that could be hard to understand at times. I found awesome videos made by patient advocates sharing their lives with their chronic illnesses, but when I first started looking, I couldn’t find anyone doing that for my condition. So, I decided to fill that void by making my own videos.

I had been making videos on Youtube for about a year or so when I received a message from a man in another country. He opened up to me that he has my condition as well, and shared that in his country’s culture, it’s frowned upon to speak openly about health issues, so he didn’t have anyone to talk to about this, but he had seen my videos and thought I might be able to help. He had heard that people with our condition often can’t have kids and asked if I had any advice for him, as he was about to get married and he was worried that he would not be able to give his wife children. I was able to ease his fears a little by sharing what I knew about fertility treatments that can help. I suggested that he contact the doctor in charge of managing his care, and ask them about the possibility of starting those treatments. He thanked me for the help, and said he would talk to his doctor. 

Around five years later, I received a message from him on my Facebook page. He said he wasn’t sure if I remembered him or not, but he wanted to tell me he still loves my videos and encouraged me to keep up the good work. When I saw his message, I immediately replied, telling him I did remember him, and I asked if the fertility treatments had helped. He told me that they did, and he is now the proud father of a happy five year old girl. 

He shared a photo of his family, and my heart was so overcome with joy and happiness for him.

I know that he likely would have discovered fertility treatments without my help, but knowing that I was the one who had initially told him about them, and seeing that my advice led to a beautiful child being born to a family who loves and cherishes her is a wonderful reminder of what a truly positive impact advocacy work can have on someone’s life.

Just last Friday, he reached out to me again and told me that his wife just gave birth to their second child. 

I hope this has shown you just how fulfilling and important being an advocate for rare diseases really is. If you’re interested in learning how you can get started as an advocate, please feel free to reach out to us and we’ll be happy to talk with you about it!

Share this

Share your photos, videos and your experiences!

Be part of Rare Disease Day by sharing your story with others and sending a message of solidarity! You can write about your story and also submit photos or a video testimonial.

Stories Of The Week

My family My family

Xander's Journey finding a cure

Yohanna, SLC6A1, United States, March 1, 2021

My name is Yohanna. I have a 3-year-old name, Xander. He was born healthy, and everything was great until he reached six months. I noticed he was not getting his milestones, and of course, I was conce...

Mia Mia

Mia

Maja, 1p36 deletion syndrome, Croatia, February 28, 2021

My daughter Mia was born with congenital cytomegalovirus infection and from birt we new she will face a lot of obstacles in her life. We were told she will never walk, talk etc. But she was little war...

SuperBouli SuperBouli

Story of SuperBouli

BOULI, Sandhoff disease, infantile form, Lebanon, February 27, 2021

SuperBouli for rare disease day 2021Read my story or watch the video to know why I am superRarehttps://youtu.be/Rw4hV_sk6VQHello!!! I am Bouli, and this year, on the 28th of February, the rare disease...

Photography credit: Oumayma B. Tanfous Photography credit: Oumayma B. Tanfous

Keep on Smiling

Maria, Beta-thalassemia, United States, February 25, 2021

Keep On Smiling“Keep on smiling” the young doctor said to me at an impressionable age of ten. Those words, at that time, influenced the rest of my life. I was born with a rare disease, Beta Thalassemi...

On my Instagram-account (@bibi_wheelchair_traveller) I raise awareness for the disease ALS, I share my thoughts on disease and disability and present our way of wheelchair-traveling. On my Instagram-account (@bibi_wheelchair_traveller) I raise awareness for the disease ALS, I share my thoughts on disease and disability and present our way of wheelchair-traveling.

"Juvenile ALS" occurs in less than 1 out of 1 million people

Bibi, Amyotrophic lateral sclerosis, Austria, February 24, 2021

Hi, I’m Bibi, 32 years old, from Austria (Europe) and was diagnosed with ALS (Amyotrophic Lateral Sclerosis) at the age of 18.My first symptoms started to show in 2005 when I was 16 years old. I notic...

Hagamos visible las enfermedades raras... Hagamos visible las enfermedades raras...

Nahiara... el amor en persona

Claudia, Williams syndrome, Argentina, February 24, 2021

Mi nombre es Claudia, mamá de Nahiara,  ella fue diagnosticada a los 7 meses de edad con Síndrome de Williams, una detección en el cromosoma 7q11.23. Dentro de las características principales de éste ...

Palden and Mom Palden and Mom

The Glimpse into Palden's Journey as the First SMA Patient of Bhutan

Ugyen, Spinal muscular atrophy with respiratory distress type 2, Bhutan, February 22, 2021

Palden is a 12 year old girl from Bhutan. She was diagnosed with Spinal Muscular Atrophy (SMA), Type II, at the age of 9 months, as the first case and one of the only two diagnosed in the country. SMA...

X

Share your story




(To find the english name and more information about your disease, click here). Start typing the English name of your disease. Please choose from the suggestions that appear. If your disease is undiagnosed please write ‘undiagnosed’, or if you would like to list multiple diseases, please type in a list separated by commas.