Rare Spotlight

Rare Spotlight

Spreading Awareness of Rare Diseases

Different Stories about living with Rare Diseases

Table of Contents

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Life with A Rare Disease Scott Singer Interview JWU Ad

Address: National Adrenal Disease Foundation P.O Box 566 Lake Zurich, IL 60047 USA 3.

LIFE with a RARE Disease

Having a rare disease can be dangerous. They can be controlled to an extent, from only taking certain medications to going to the doctors ever couple of weeks to get care. Most rare diseases are chronic, meaning that they are for life, and they tend to have no cure. A disease can be caused by multiple factors, from the body developing antibodies that attack specific organs, to external factors from a car crash, a virus or any other uncontrollable factor. When someone is diagnosed with a rare disease in particular, it usually occurs when things are bad. This usually happens because of how little research is done on the disease.

Some of the symptoms can be similar to other known dieseases, so the patient can be wrongly diagnosed.

The symptoms can develop over long periods of time or they can happen suddenly.

When asking the individuals who have rare diseases about what it is like, they are all said something similar, its like living a life carrying multiple bombs. They never know what is going to happen that day, or throughout the day. Somedays can be perfect while other days they have no motivation to do anything. The parents would usually say that they are always worrying, and that at first it was very scary. They would also feel responsible that they didn’t see the symptoms cause they would be happening so gradually that it would start to blind them on what is happening. Many of the people that I’ve talked to have had different experiences, and treatment. They would have to have a central line that would be used to deliver the medication needed to, only have to take medication certain times of the day by mouth. In the interview with Scott Singer, he had answered many questions on the basis of what condition he has, how does it effects him daily, and how he manages it.

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“You have control over your life, NOT the Disease” - Scott Singer

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Scott Singer: Living with Addison’s Disease

Addison’s Disease is a rare autoimmune disorder that can be caused by a multitude of factors, from stress, body developing antibodies attacking the specific cells that produce cortisol, or a physical trauma. It affects the Adrenal Cortex of the Adrenal glands that produce a hormone called cortisol. This can cause the Adrenal Glands to produce a decreased amount of cortisol to maintain homoeostasis. Just like Type 1 Diabetes it is chronic so there is no cure for it. The patient would have to take medication for life to maintain homoeostasis, and to feel comfortable.

When where you diagnosed?

I was diagnosed on July 4, 2018. I remember what week, day and times I was in the hospital.

Who had helped you through this Process?

Mainly my mom. She is a nurse, a good one my I add, and she has helped me mentally and physically on what I have to do to better myself.

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What types of med do you take?

The important ones are Hydrocortisone, and fludrocortisone. In the past years however, I had to start taking Vitamin D3, calcium supplements, over the counter meds like Tylenol, antiacid, and a multivitamin.

What other complications developed?

The first one was my calcium levels being low to a point that my bones could brake easily from a fall. This was caused by my parathyroid trying to compensate for the lack of calcium in my body and which in turn started to use up my Vitamin D levels, so then I started to take Vitamin D. Started to develop severe heartburn for a 18 year old. The big one that affects me every day are my joints hurting. I am not diagnosed with arthritis, but I fear that it is going down that route.

Do you ever joke about it?

All the time, we always joke that my parents neglected me in those 2 weeks. Also my family, on my moms and my dad’s, in general has a lot of health issues, so I always joke that I drew the short end of the stick and when another complication happens to me I just say that I am a Lane.

Do you have ups and downs?

Unfortunately, way to often. I tend to have more lows than highs, due to my other medical conditions. My lows are usually really bad to a point where I have no motivation to do anything. In pain, nauseous, headaches, can’t think straight are only a few I can mention right now.

What experience has made you who you are?

It is going to sound very overused but practically on my death bed. It made me realize that I need to enjoy the little things.

What would you say to others that don’t understand these kinds of issues with people that have a chronic disease? And what would you say to those who have just found out they have one?

To those who don’t have a chronic disease, I would say don’t judge. I have really bad days and other people who have a chronic disease can testify to this, on those bad days you have no motivation to do anything. Instead of standing there and saying that I am lazy, using my disease in my favor, ask them if they need help, or just be there to support them.

To those who just got diagnosed with one, I would say that I would be lying that it got better. It gets better in the sense that it is under control but overall, in more times than none it gets the better of you. Just go with the flow and take the necessary medication to better you.

What is your typical day like?

My typical day starts off like crap. I would start my day typically starting off taking my meds a 6am, then go back to sleep. I then would wake up at 8 slowly get out of bed considering my whole-body hurts, stretch to get muscles loose and joints moving, get food and coffee. I then start to get settled to do school, after school do homework, play games and go to bed.

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