My name is Yolanda and I’m currently 36-years-old. When I was 24, I was first diagnosed with Sjogren’s Syndrome. Sjögren’s syndrome (SHOH-grinz), also known as “Mikulicz disease” and “Sicca syndrome”, is a systemic autoimmune disease.
I realized that I had symptoms of this rare disease as far back as my early teens, but nothing as severe as when I was diagnosed. Within two weeks, I couldn’t squeeze a shampoo bottle and was in constant pain in my hand, wrists and arms. I was very fortunate to have great doctors and health insurance so I was properly diagnosed within two months. I was quickly diagnosed with Rheumatoid Arthritis (RA) thereafter.
I responded well to Plaquenil and remained on high functioning until 2007. That’s when the bottom fell out and I became incredibly weak, leading to a muscle biopsy and diagnosis of Polymyositis, a chronic inflammation of muscles. High doses of corticosteroids followed by trying multiple new medications in an attempt to get the Polymyositis under control. Unlike before, I did not respond to medication and developed new symptoms.
I then received the news that the steroids I was taking had most likely caused Avascular Necrosis in my left hip and I was having ever increasing migraines. In 201, a MRI revealed an Arteriovenous malformation (AVM) in my left occipital lobe and probably the cause of my headaches. I had to under go 4 brain procedures where they slowly shut down the vessels and arteries in the AVM followed by GAMMA knife laser surgery.
After the 4th brain surgery, I developed blood clots in both lungs and despite two weeks in the ICU, but survived. However, my RA and other diseases were complicating factors in treating the blood clots. Those of us with rare disease don’t always respond normally to conventional treatments and the doctors treating me were at a loss as to why I wasn’t getting better. The PE left me with scarred painful lungs and then I developed Pericarditis as well.
I am very fortunate to have a wonderful rheumatologist who is the team leader for my treatment. I know I am alive today because of his help. He is always available by email and or even cell phone. Having his knowledge is so important when navigating my road to relief from symptoms.
I am not able to work, but managing my diseases are a full-time job. I would like to work again, but I’m always wondering when the other shoe is going to drop. Finally, at the end of 2011, I feel like I have gotten some relief and I’m trying to have some sort of life that doesn’t involve sitting in a doctor’s office or in bed resting.
I have found great support reading others stories online and I hope that by reading my story, others with rare and genetic diseases might find some comfort knowing they are not alone.