- CASE FILE
A healthy Mom lost her job, her friends and family to an illness that swept over her and took the life she used to know.
ABOUT THIS CASE FILE
Stiff Person Syndrome is a 1 in a million syndrome that stems from an autoimmune disorder. The muscles will spasm until they seize into a frozen position. This includes internal organs. Gastroparesis is one of the diseases that can be caused by it and has resulted in slow processing of the digestive system, chronic constipation and the inability to absorb nutrients. In turn, I have poor appetite, severe nausea and
malnutrition and was subjected to a Per Oral Pyloromyotomy (or the cutting of a stomach muscle) to assist in eating. Of course that couldn't possibly be enough to handle, so I have a 2nd rare syndrome called Postural Orthostatic Tachycardia Syndrome or POTS. This brings memory loss, fatigue, anxiety/depression, migraines, pain, fibromyalgia and more. Each day is different and many times leaves me unable to get out of bed or handle my basic daily needs. Hashimoto's disease is a thyroid issue that I battle in addition to iron deficiency, copper deficiency and often times anemia with the need for transfusions.
I have been in doctors offices and hospitals more times than I can count over the last 8 years and was traveling 4 hours one way for treatment every week for over 3 years before acquiring bacteremia. Each visit often bringing more tests and more pain. However I endured each one for a gl in mpse of hope. Both chest ports have had to be removed for my safety and I am still in therapy fighting the contractures of my hands. Otherwise I am at a point that the treatment is only valid if I undergo another surgery to implant ports again. Or I seek a new team and start over with a frrsh perspective with the hope that something was missed. Or that the mystery I have is all one big thing and not several individuals.
I would like a team to look at the POTS and Stiff Person Syndrome as one unit instead of two since one greatly impacts the other. I would like the opportunity to be genome tested for regular and
rarities to see if something is overlooked. I understand the doctors may not have a cure and that's ok. I am strong in faith and just want a path to follow. A treatment plan, the gift of hope.