In mid-September of this year, time seemed to stop for our family. For months, we had been searching for answers — trying to understand the strange symptoms our sons, Franek and Czarek, had been showing. The diagnoses had always been uncertain: first cystic fibrosis, then possibly ataxia-telangiectasia syndrome. Endless appointments, inconclusive tests, and a growing sense of fear became part of our daily life.
Then came the call that changed everything.
The Day Everything Changed
Czarek’s WES genetic test results arrived first. We opened them with shaking hands — one report after another, each labeled “normal,” until the last one. That one had a new table. It listed something we had never heard of before:
FGFR1 (13q34) – variant of uncertain significance, associated with Hartsfield, Kallmann, Pfeiffer, and Cruzon syndromes.
CACNA1S (1q32.1) – variant correlated with Myopathy type 18.
Two days later, the phone rang again — this time from Poznań, where our eldest son, Franek, had previously undergone testing for a congenital foot defect. We had been told nothing alarming was found. But the voice on the line was tense.
“We found something.”
“FGFR1 or CACNA1S?” we asked.
“FGFR1,” came the quiet reply.
Our hearts sank.
That’s how we learned that both of our sons — Franek and Czarek — share a mutation in the FGFR1 gene, linked to a rare and complicated condition: Kallmann syndrome.
The Diagnosis That Changed Everything
Kallmann syndrome is known to cause developmental abnormalities, hormonal issues, and, in some cases, neurological and structural defects in the brain. For our boys, it explained so much — yet raised even more questions.
The FGFR1 mutation may be behind Franek’s congenital foot deformities, Czarek’s cleft palate, their weakened immune systems, low muscle tone, ataxia, and possibly even Franek’s autism diagnosis. But many of their symptoms are still atypical — things doctors can’t fully explain.
Now, we must test our two younger sons — five-year-old Witek and one-year-old Lucjan — and ourselves, to determine who carries the mutation and how it may manifest. The most urgent need right now is imaging tests of the boys’ heads, since FGFR1 changes can lead to serious brain malformations, including agenesis of the corpus callosum, absence of the septum pellucidum, or olfactory bulb abnormalities.
Under Poland’s National Health Fund, the waiting time for these tests is over two years — time we simply don’t have. We’ve decided to conduct all the imaging privately, so that our boys can begin proper therapy as soon as possible.
A Family’s Daily Battle
We are parents to four beautiful boys, each with their own challenges. Two of them — Franek and Czarek — are officially diagnosed with genetic disorders. But all four require care, therapy, and constant medical supervision.
Franek, our oldest, has been in rehabilitation since he was six months old, working to strengthen his muscles and improve his mobility. He’s also in therapy to help with communication and behavioral development due to autism. He undergoes orthopedic treatment in Vienna, which has already helped him tremendously.
Czarek, our second son, is in and out of hospitals for pulmonary and neurological complications. He has undergone surgeries in Wrocław and Katowice and requires ongoing rehabilitation to build his strength.
Our youngest, Lucjan, is also showing health problems, and we are addressing them early to give him the best chance at a healthy future.
Every day is filled with hospital visits, therapy sessions, and medical consultations. Most expenses — private doctors, therapies, travel, and medications — come out of our own pockets. The only major help we’ve received so far came from the kindness of others who helped us fund Franek’s surgery in Vienna. Without that generosity, we couldn’t have afforded it.
The Hope That Keeps Us Going
We don’t want pity. What we want — what we fight for every single day — is a fair chance for our children. We want them to grow up able to live, play, and learn like other kids. We want them to experience life without the limitations that come from a disease they never chose.
To make that possible, we need resources for:
Ongoing genetic and neurological diagnostics
MRI imaging for all the boys
Specialized rehabilitation and therapy
Consultations with foreign specialists
Orthopedic treatment and follow-up care
Every donation, no matter how small, brings us closer to that goal.
Gratitude and Faith
We are profoundly grateful for every person who has stood by us so far. Your support has already changed our children’s lives. We believe — truly believe — that together we can keep pushing forward, uncovering new possibilities, and giving our boys the care they deserve.
We may have been handed a difficult path, but we walk it with faith and determination. We have learned that courage is not the absence of fear — it’s continuing to fight despite it.
From the depths of our hearts, thank you for standing with us, for believing in our children, and for giving us hope.
💙 With your help, we can give our boys a future brighter than their diagnosis.
Every test, every therapy, every act of kindness brings us closer to that day.
