The story of Ramona
RARE DISEASE DAY
Living with Autoimmune Neutropenia and AA Amyloidosis
On the occasion of RARE DISEASE DAY I’d like to share a few words about me. I’ve been coping with AUTOIMMUNE NEUTROPENIA at least since 2008 when a simple bloodwork showed very low leucocytes and especially low neutrophils. For the ones that aren’t aware of this rare blood disease AUTOIMMUNE NEUTROPENIA (and also chronic severe neutropenia and cyclic neutropenia) is a serious disease part of IMMUNODEFICIENCIES which puts you at risk for severe recurring infections. My neutropenia is chronic (lasting for many years), autoimmune because I have ANCA antibodies which destroy my neutrophils and also severe as my neutrophils are less than 500 per microliter.
It is a condition that makes you always be on the lookout for infection. Things that for others are natural for neutropenic patients imply careful consideration: like hanging out at indoor closed places like theaters and malls (during influenza season), like having a tatoo, or swimming in a lake….It may seem exaggerated but I assure you it’s not.
Generally, neutropenia may also occur not only in congenital conditions but also during chemiotherapy, but that’s a transient effect. Or it can be a temporary effect of some drugs.
Fortunately in 1983 a white cell growth factor (GCSF)was discovered and worldwide neutropenics can avail of it in order to increase their neutrophils.The downside is that GSCF makes you feel as if you had influenza (fever) and gives bone pain. And after many years of usage it could lead to Myelodisplasia which is the worst case scenario.
Another curative option may be a bone marrow transplant but it’s the most risky procedure as one may die from sepsis not having enough white blood cells.
Personally I’ve been having trouble explaining this to people because it’s hard to understand something that it’s not obvious and it may seem like SCI-FI !!!!! I didn’t go to kindergarten when little cause I hated it and I avoided it. When in school I had frequent aftae, sinusitis, colds and fevers that I felt something just wasn’t right. Just couln’t explain what it was. Therefore I was much absent from school.
Growing up I had a strong hope it would heal by itself… It didn’t occur. And now after let’s say 13 years I’ve been fighting it as it has seriously worsened I’ve started inhibiting my immune system with steroids and drugs that help my kidneys from failure. It’s definitely a merry-go-round game with its continually ups and downs. Continuous bloodwork to keep things under control.
This is when I discovered I also have AA Amyloidosis, a serious complication of infection and of chronic inflammation. Because doctors noticed high proteinuria, we did a kidney biopsy which diagnosed Systemic AA Amyloidosis. My Amyloidosis could be an effect of my neutropenia or of the frequent mouth sores that get infected easily.
I’m really hopeful that one day doctors will have a better understanding of neutropenia. As of now I feel insecure whether the road I’m travelling is good or not.
I’m honestly at times overwhelmed and anxious about the future.
However, as I was born from twins I consider myself a survivor anyway as my little brother only lived 19 days and I’m still alive.
My personal story I hope will give you an insight on what’s like living with a rare disease!!!!!
Although neutropenia gives me continuous mouth sores and fatigue life is worth living, always!! My life has always been scattered with concern for my health and anxiety and I ‘ve learned you have to stay stong in order to respond to stress.
My message: live as nothing were impossible. And as days go by you’re the only one to make them worthwhile as life goes on anyway!!!