CTLA4 gene mutation, hemolytic anemia, and persistent pancytopenia❗HELP❗Patryk's treatment is not covered by insurance.

Enlarged lymph node

It was his mother who first noticed the change. The enlarged lymph node under the five-year-old boy's armpit was worrying.

The visit to the pediatrician and basic blood tests were only supposed to check if everything was okay. The results provided information that changed the course of events. The platelet count was only 50,000, which was a clear sign that an urgent hematological consultation was necessary.

Over time, numerous bruises and small petechiae began to appear on Patryk's body, leaving no doubt that a thorough hospital diagnosis was needed.

Months of research and more and more questions

Subsequent tests provided new information, but for a long time they did not give a clear answer to the question of what was really happening to the boy's body.

After a week, Patryk was referred to a specialist center in Wrocław, where a long diagnostic process began , involving the gradual exclusion of other diseases that could explain the observed symptoms.

The boy underwent numerous blood tests, genetic diagnostics, imaging tests such as ultrasound, X-ray, and magnetic resonance imaging, as well as histopathological sampling and bone marrow puncture.

The family returned to Wrocław more and more often, sometimes every two weeks, and sometimes even more frequently, when Patryk's sudden health condition required immediate admission to the ward.

It was only after five months of intensive diagnostics that the answer everyone had been waiting for finally arrived.

CTLA4 gene mutation

After consulting with doctors in both Wrocław and Warsaw , Patryk's parents were told that cases of this mutation are extremely rare.
One of the doctors emphasized that in his many years of professional practice , he had encountered only about ten patients with this diagnosis, and the disease was detected at very different stages in each case.

The rarity of this mutation means that treatment must be highly individualized and requires special attention from physicians.

A disease encoded in a gene

The CTLA4 gene mutation is a very rare immune system disorder that causes the immune system to malfunction and, instead of protecting the body, begin to act unpredictably.

In such cases , treatment must be selected very precisely, as standard therapeutic regimens often prove insufficient.
In Patryk's case, one of the symptoms of the disease is enlarged lymph nodes, which require constant medical supervision and regular tests so that doctors can monitor the course of the disease and respond appropriately.

In December 2025, Patryk also underwent a procedure to remove lymph nodes from his right armpit and salivary gland so that doctors could assess the course of the disease more accurately and select the appropriate treatment strategy.

Patrick is only five years old.

This disease, difficult in its unpredictability and deeply embedded in the structure of a single gene, has affected a child for whom its existence does not yet fit into a child's understanding of the world.
The seriousness of the situation stands in stark contrast to his natural joy, his need to play with his peers, his curiosity about everyday discoveries, and his simple desire to experience childhood as other children his age do.

For parents, every moment of tenderness, every hug, and every child's smile has a double meaning today. They are both a source of strength and a reminder of the responsibility that rests on their hearts. In such moments, it is difficult to build emotional armor, because a parent's love for a sick child does not allow them to keep their distance. On the contrary, it makes everything even more deeply felt.

The daily struggle has been going on for several years now.

Since the age of two , Patryk has also been struggling with type 1 diabetes, which in itself requires constant vigilance and tremendous discipline from the whole family. Every day means monitoring sugar levels, responding to sudden drops and increases in blood glucose, and constantly planning the day so that the disease does not prevent the child from functioning normally.
Now, another diagnosis, even more difficult and complicated, has been added to this daily struggle.

Waiting for a treatment decision

Doctors are currently preparing for a consultation to decide whether to start treatment with abatacept. This therapy is used in diseases associated with the CTLA4 gene mutation and offers hope for controlling the malfunctioning of the immune system.

The problem, however, is that in the case of this disease, the drug is not on the reimbursement list.

For the family, this means having to bear very high medical costs, which also include frequent trips to Wrocław, specialist medical care, and further tests necessary to monitor the course of the disease.

Everyday life between home and hospital

Patryk's home is located in a small town near Jelenia Góra, but the center of his treatment remains Wrocław. Every phone call from the hospital may mean the need for immediate departure, further tests, or a few days' stay in the ward.

This lifestyle has forced a specific division of roles within the family. One parent works to maintain the financial stability of the household, while the other remains on constant standby, ready to take their son to the hospital at any moment and accompany him through the subsequent stages of treatment.

The most important thing today is treatment.

Patryk is only five years old and has his whole life ahead of him. Today, his parents are asking for support in financing treatment that can halt the progression of the disease and allow their son to grow up in a world where fun, school, friendships, and ordinary childhood dreams are the most important things.