I’m definitely no stranger to the medical world. I was finally diagnosed with a rare medical condition known as Cowden syndrome. Once we had that rare diagnoses then everything was finally connecting. My large head and early on-set thyroid problems and then when I was 21 years old we found out that I had a rare brain tumor known as Lhermitte–Duclos disease(dysplastic gangliocytoma of the cerebellum).
Today is national rare diseases day and I wanted to write a blog post to advocate for cowden sydrome and lhermitte-duclos disease. Both of these conditions have affected every moment of my life and my family. Especially these past two years after having brain surgery to remove the tumor from my cerebellum. These rare medical conditions are so rare that many doctors have never heard of the conditions. When the brain tumor was first discovered the doctor that diagnosed me said, “three years I’ve been at this hospital you’re the second person I’ve seen” “most doctors will never come across this brain tumor during their time of practice”. While researching rare medical condition, these reactions from doctors are quite common when it comes to dealing with patients with a rare medical condition. Living with these two rare medical condition is hard, stressful and sometimes painful but it’s also given me great pride for life. That’s because I’m living life with two rare medical conditions and I thinking that’s amazing. If you would like to know more about these two rare medical condition please check out the following links.
Living with these two rare medical condition is hard, stressful and painful but it’s also given me great pride for life. I’m honored to live
Lhermitte-Duclos disease, also known as dysplastic cerebellar gangliocytoma, is a rare tumor of the cerebellum. It is probably hamartomatous, although the exact pathogenesis remains unknown 2. It is considered a WHO grade I tumor 1-2.
Cowden syndrome (CS) is part of the PTEN hamartoma tumor syndrome. Hamartomas are benign, meaning noncancerous, tumor-like growths. Other clinical syndromes that are part of the PTEN hamartoma tumor syndrome are Bannayan-Riley-Ruvalcaba syndrome (BRR; diagnosed in children), Proteus syndrome, and Proteus-like syndrome. CS is characterized by a high risk of both benign and cancerous tumors of the breast, thyroid, endometrium (uterus), colorectal, kidney, and skin (melanoma).