Rare Diseases… What about Us?

So here I am laying down thinking to myself why? So many whys to ask about…

Why do I have a rare disease that nobody can treat?

Why am I in so much pain everyday?

Why is the “Rare” disease community still not being respected?

Why don’t 30 million Americans count??

And today I am going to talk about a very tough topic…


Let me set this disclaimer out there first.. This is only my opinion! Nobody else or any organization has anything to do about this post. Also I am not diminishing the 50% of the children that have rare diseases. I also understand it hits the heartstrings of people when you talk about children.

But let me tell you from an adult perspective of having a rare disease called Sarcoidosis.

I was laying down today watching the Today Show and saw a great clip by Richard Engel about how the Tax Reform Cuts will affect the Rare Disease Community, especially the children. I wanted to thank Peter Saltonstall, President/CEO from NORD and Emil Kakkis, Chief Executive Officer, Ultragenyx Pharmaceutical Inc. for expressing their opinions and supporting the rare disease community.

Okay so now I am going to talk to you from my adult patient perspective…

I cried watching that clip on the Today Show! There were many thoughts going through my mind! First I watched and felt the pain of those children and also the parents.

Then came the other reason I was crying… I looked at that piece and so many others like that and they all have one thing in common… NO ADULTS DEALING WITH RARE DISEASES ARE BEING SHOWN. WHY???

I was crying because I lay there in pain that I wouldn’t wish on my worse enemy! I lay there because if I move too much I don’t know if I am going to pass out. I lay there because my pain level is at an 8-9 level from 1-10. I also lay there knowing that being a realist that I will never see a cure in my lifetime, but yet I fight for the rare disease community to possibly make it better for someone else.

Adults with a rare disease are a different breed. Either we were having and living a normal life then all of a sudden our lives changed in an instant… We didn’t ask for this.. We get looked at like we are lazy, looking for attention or just making things up. We deal with trying to either work if we can or have to because we can’t get disability or even if we do we can’t live on it.

We also have the pressures of trying to have a support system, finding someone who will support us mentally and sometimes even physically and financially.

Someone like me that has been the hardest thing for me! I want to work! I can’t work! I went from a runner to someone who has had 9 surgeries in 7 years. I want to be able to support my family but I can’t. I have an amazing wife who I see has to deal with the everyday pressures of being the bread winner and then also being a Mom and worse yet  wondering everyday what is going to happen to me! People don’t realize being an adult with a rare disease is so much pressure on your significant other as well as your child. I can’t do things a normal Dad and husband can do. I try my best, but the reality is that I wouldn’t be here if it wasn’t for my wife and my daughter and I will never be able to do what other Fathers do!

I also live with the fact, being a realist, that I will never see a cure in my lifetime…. let me talk to you all about that!!

Does anyone who is not a patient understand that??? Really, I know my life is not going to get better and most likely will get worse. I know that sounds terrible but it is a FACT! Imagine knowing that the pain I feel today will never go away. Imagine being old enough to realize this but too young to die! Like I said I never know how I am going to be everyday.

Imagine waking up to a phone call from your cardiologist saying “I called an ambulance for you!” “Your heart stopped twice while sleeping!” Also imagine waking up on the floor not knowing how you got there. That is my life, EVERYDAY!

I didn’t write this just to complain about me….

So here I am laying down wondering why don’t people talk about adults with Rare Diseases?? I get upset hearing well you lived your life!! Excuse me??? When is 50 a whole life??? I am grateful that I have made it to 50, but to say that I lived a full life is one of the most insensitive things I have ever heard!!

Like I said before I understand that people will look at children and feel real bad. And as I said before I don’t mean anything bad about the 50% of rare disease patients are children.

Please do remember that the other 50% are young adults and adults. We deserve respect just as much as anyone else! We suffer too! Our Family suffers too!  We have to make dramatic life changes just to stay alive! We live day to day too!!

So when I see something about Rare Disease patients why can’t we get a point of view from both adults and children??? Is that really too much to ask???

As I write this I am crying, yes I am a man who cries and not afraid to say it, because knowing that I might upset those in the Rare Disease community, either parents of children or others who just like to get on me for things I say or do.

I want people to realize that their is another side to this community…. Please don’t forget about us ADULTS!!!





Author: fjr311

Frank Rivera- Founder/President- Sarcoidosis of Long Island Founder/President- RareNY Frank Rivera founded Sarcoidosis of Long Island in 2012. In 2011 Frank was diagnosed with Sarcoidosis after being misdiagnosed with lung cancer for 7 years prior. Since opening Sarcoidosis of Long Island he has been a local, state and federal advocate for Sarcoidosis to raise awareness for Sarcoidosis in the government sector. He has also spoke at two Congressional briefings for Sarcoidosis. Frank is a National Ambassador for Foundation for Sarcoidosis Patient Ambassador for Illumina Frank organized RareNY in 2016, to raise awareness for Rare Diseases in New York. He organized “A Day for Rare Diseases” in October 2016 in New York with Global Genes. The event raised awareness for all 7000+ rare diseases to the public.

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