Hello dear people with big hearts. I never imagined that I could reach a state of complete impasse and despair. I am appealing for your help so that I can be diagnosed and if possible live.

For a year and a half I have started to feel unwell- faint, subfebrile temperature every night, constant fatigue and frustration. Small red spots have appeared on my face, increasing in number. I went to the doctors, but since my platelets were just over the upper limit they sent me away. March last year I got ,,pins and needles" and heaviness in my arms and legs. We collected money and I went to Turkey for research. I came back without a diagnosis and continued seeing doctors in Bulgaria. A neurologist did an EMG (electromyography) and found polyneuropathy.

I was told to look for the disease that was causing it because the drugs I was prescribed would only suppress the symptoms for a short period. And so it did. I was then back in hospital for bone marrow tests because the other causes of polyneuropathy were ruled out.

The bone marrow flow cytometry was not good, but I was still left with a vague diagnosis. Again we raised funds and I went to Turkey with high hopes. Again I had a bone marrow biopsy, received test results with no conclusion. That was in March this year. The neurologist there prescribed me new medication which worked until a month ago and I deteriorated again. At night the pins and needles on my body don't allow me to be lying down, and when I sit I have no strength.

In the meantime, I sent the material for genetic tests to a German clinic- they found a very rare mutation responsible for the bone marrow, but this particular variant is of unknown significance. The mutation is of the CSF3R gene. The fact is that in 2017 when I tried to conceive in vitro I was put on Filgrastim injections, which is CSF(colony stimulating factor). I recently found out that this is only put in in vitro in Bulgaria because it is a dangerous drug that is given to cancer patients after chemotherapy.

I contacted Heidelberg University Hospital in Germany for a second opinion. I sent the research I had. At the video consultation we had, the hematologist was amazed that I had been put on this drug in IVF. Since it was most likely a rare myeloproliferative neoplasia (MPN)-a type of leukemia, they recommended that I have my research done at a center where they have experience with rare hematological diseases.

They can diagnose and stage my bone marrow in Heidelberg, as cyto genetic testing and testing for gene mutations of more genes are needed.

Unfortunately we spent everything in Bulgaria and Turkey and the amount for Heidelberg is unaffordable for us, unfortunately we don't have the funds to travel and stay there.
So I am appealing for help to all people who can help.