Hyperthyroidism with JAK2 V617F❗ mutation Nina has been fighting since birth❗.

It's boiling in the marrow

Nina was born with a disease that has robbed her of her strength since day one. Spontaneous hyperplasia with JAK2 mutation makes her marrow work in chaos. Trepanobiopsy results showed fibrosis, which is likely to progress. The family's daily routine is one of vigilance, medication and waiting for more test results with the hope that the treatment will finally be successful.

Drug of last resort

In November 2023, Nina began an experimental treatment. The drug administered - Pegasys - offered hope, but caused severe side effects: high fever, vomiting and chills.The therapy had to be discontinued.

The girl has been receiving ruxolitinib (Jakavi) since February 2024.

The drug slows the progression of the disease, but weakens immunity, making any infection a serious threat.

Due to the lack of treatment procedures for such young children, Jakavi remains the only viable therapeutic option.

A life subordinated to illness

Nina is only three years old and does not know the normalcy enjoyed by her peers. She doesn't go to kindergarten or the playground - any contact with the outside world is a risk of infection. Her daily life is limited to home and hospital visits. Every month she goes to the hematology ward, and once a year she undergoes a trepanobiopsy. If the results worsen, hospitalization and "flushing" of the body is necessary.

The family that watches over

Nina is watched over by her parents and grandmother, a retired nurse, who supports the family in caring for the girl every day. The older sister, with childlike simplicity, tries to keep things ordinary, sharing everyday life with Nina.

However, the disease affects the life of the entire family - everything is subordinated to medication, tests and subsequent hospital stays.

The challenges of everyday life

The biggest burden is cost - medications are not always reimbursed, and frequent trips to the hospital generate additional expenses. Nina's platelet count fluctuates between 1 and 2 million, which increases the risk of stroke, blood clot or life-threatening heart problems. The parents know that the disease may progress and that a bone marrow transplant will be necessary in the future. They live in uncertainty - whether there will be enough drugs, enough funds to buy them and enough strength to face the next challenges. Your support will help finance the treatment, purchase of medications and transportation, and prepare Ninka for an uncertain future.