Our Journey with Niemann-Pick Disease Type B
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NataliaCaregiver
general·
My daughter Larissa is seven years old and was diagnosed with Niemann-Pick Disease Type B.
The first sign was her enlarged tummy. Since she was a baby, my family felt it did not look normal, especially because I have a cousin with the same rare disease.
I first took Larissa to our GP when she was only a few months old, but I was told everything was normal. I returned again at six months and was reassured once more. However, when she was around 18 months old, I knew something was still wrong. I explained our family history and insisted on further investigation. Only then was she referred to Great Ormond Street Hospital.
We waited another year for confirmation. Larissa was about two and a half years old when I received the diagnosis over the phone while shopping in Asda. The news was delivered very directly, and I was devastated. I remember walking around crying, feeling like my world had collapsed.
One of the hardest parts was not only the diagnosis, but how it was communicated. Families need more emotional support when receiving life-changing news.
After we started receiving care from the specialist team at Great Ormond Street Hospital, things improved. Their knowledge and support helped us feel less alone.
What shocked me most was the lack of awareness about rare diseases in general practice and local hospitals. Many professionals had never heard of Niemann-Pick disease.
Soon after diagnosis, Larissa became very ill with recurrent chest infections and needed oxygen support several times during one winter. It was terrifying.
At age three, she started treatment through a compassionate access programme because it was not approved by the NHS at the time. Thankfully, we have seen huge improvements since then, especially in her growth, spleen size, and overall health.
Today, Larissa is doing very well.
I truly believe no family should have to face this journey without treatment when one already exists.