Hej
HLH är en väldigt ovanlig sjukdom. Det är en benmärgssjukdom.
Jag har en dotter som har den och undrar om det är fler som har barn med den el känner någon??
Det är bara en chansning eftersom den är så ovanlig. Det skulle vara skönt att träfffa någon som sitter el har suttit i samma sitts.
Hej!
JAg känner ingen och vet inte ens vad det är men vi hade en tråd inne på barn/funktionshinder förut som vi skrev i vi som har ovanliga diagnoser, Jag tror att den tråden är stängd så jag har precis öppnat en likadan där.
Den heter " ovanliga diagnoser eller för oss som känner oss lite ensamma här 2"
Varmt välkommen dit!
kram/ cathrine
Hi,
Yes ? you?re absolutely right, HLH is incredibly rare and complex. I?m so sorry you?re on this journey, but you?re not alone.
My daughter was diagnosed with familial HLH due to a PRF1 mutation when she was just six weeks old. Her condition progressed quickly, and she required a bone marrow transplant, which she received from an unrelated donor on March 25, 2025. She?s now around 10 months old, and we?re currently just past Day +100 post-transplant.
It?s been an intense and emotional journey ? she was hospitalized for almost 4 months straight, with five ICU admissions, twice mechanical ventilation, and many complications like neurological inflammation, kidney stress, and electrolyte imbalances. But slowly, she?s improving. Her bone marrow is functioning well, no signs of HLH activity, and she is now home with us.
She still needs medications, feeding through a tube, and close monitoring, but her motor skills, eye contact, and responsiveness are coming back. Her lab values (ferritin, IgG, etc.) are slowly improving, and her seizure meds are being tapered off slowly.
The journey is far from over ? but seeing her smile, react to our voices, and hold her head up again has brought so much hope.
If you're going through this or have gone through it, I?d be so grateful to connect and share. These rare journeys need shared strength. ❤️