My Rare Disease journey likely started as a child but it wouldn't be discovered until my thirties. I'm now diagnosed with seven rare diseases: Common Variable Immune Deficiency, Stiff Person Syndrome, Dermatomyositis, Gastroparesis, Addison's Disease, Idiopathic Intracranial Hypertension, and Inverse Psoriasis.
As a child, I often was ill with sore throats, sinus infections, stomach viruses, and the flu. If it was passing around, I was certain to get it. When I became older and was being tested for rare diseases, this is when I discovered the Common Variable Immune Deficiency. I was wearing masks and hand sanitizer before they were the new fad.
My most rare disease is Stiff Person Syndrome. This disease affects one in every one million people. This is a Rare Neuromuscular Autoimmune Disease. With this disease, your muscles get very rigid or hard. Think the worst Charley horse but nothing you can do to ease it. I've also encountered intense muscle spasms which is not uncommon.
The first Rare Disease I was actually diagnosed with was Dermatomyositis. This is a Rare Neuromuscular Autoimmune Disease. This disease causes muscle atrophy (shrinkage) and weakness. This disease has caused deep dimples in my legs where my muscles have receded.
Gastroparesis literally means a paralyzed stomach. I have to eat a special diet. Fresh fruits and vegetables as well as whole grains and nuts. I know it is odd yet it has helped me. If I eat the foods I shouldn't, I get very nauseated and constipated. I have stomach pain. It is miserable.
Addison’s Disease or Primary Adrenal Insufficiency causes muscle weakness, extreme fatigue, and increased thirst.
The joke in our house is that Idiopathic Intracranial Hypertension means that the idiotic pathetic doctors couldn't find a cause for the increased pressure in my brain space and spinal column. Thankfully, they’ve been able to manage it with medication.
With Inverse Psoriasis, the Autoimmune Disease causes extra skin to grow and a red rash to appear. It can lead to yeast infections as well as skin infections.
My journey could have been frustrating, but I was a Social Worker before becoming disabled. Therefore, I was able to advocate for myself. I had one doctor write in his notes that my diagnosis was due to psychogenesis which essentially meant it was all in my mind. I showed a seasoned doctor the report. When I went back to the note at a later date, the word psychogenesis had been removed.
The myriad of tests. The differing doctor views. It can be overwhelming, Keep fighting, Warrior!
Learn everything you can about your Rare Disease. Make Lists of questions for your doctors. Don’t let them put you down. Remember, they work for you! Find support groups locally or online. Ask questions or quietly listen. Think about what you can still do and consider yourself blessed.
I may use a walker at home with someone assisting me. When I leave the house, I must use a wheelchair. I don't allow it to get me down. I count my blessings. Is it sunny outside? Blessing! I stay in touch with people online and by phone. Blessing!
We are rare but we are STRONG! Our stripes make us unique. I wear my stripes loud and proud for Rare Disease Day.
#ShowYourStripes