Try telling a young boy that he can’t dive and he can’t play football with the other kids. You usually end up with a pretty unhappy kid who just wants to be like the others. This is Jack’s daily struggle.
Like many 11-year-old boys, Jack enjoys playing tennis and video games and spending time with his younger brother and friends. But, he also has to cope with the non-neurological form of Acid Sphingomyelinase Deficiency (ASMD), also known as Niemann-Pick disease type B. ASMD, a serious and life-threatening lysosomal storage disorder, keeps Jack from doing some of the things he loves, such as ride a bike, play football with his buddies or dive into a swimming pool.
Watch Jack’s story of living with Niemann-Pick B
“I would explain my Niemann-Pick by telling [my friends] that I can’t play contact sports and my spleen in enlarged and bigger than other people’s,” said Jack when describing how his disease affects him. ASMD is one of a group of lysosomal storage disorders that affects cellular metabolism and is caused by genetic mutations. ASMD is a serious and life-threatening disorder caused by insufficient activity of the enzyme acid sphingomyelinase resulting in accumulation of sphingomyelin in multiple organs of the body. Common symptoms include enlarged liver and spleen, liver dysfunction, infiltrative lung disease, bleeding complications, cardiovascular and bone disease, and growth delay.
Learn more about Acid Sphinomyelinase Deficiency (ASMD), also known as Niemann-Pick Disease
- Niemann-Pick disease (NPD) is a group of rare, inherited lysosomal storage disorders, consisting of acid sphingomyelinase deficiency (ASMD also known as NPD types A and B) and NPD type C, which is a distinct disease but shares some overlap in clinical features
- ASMD is caused by the reduced activity of the enzyme acid sphingomyelinase and leads to the accumulation of sphingomyelin in different organs of the body
- ASMD presents as a spectrum of disease, ranging from an infantile neurovisceral form (NPD A) to a chronic visceral form (NPD B), with an intermediate chronic neurovisceral form (NPD type A/B) also having been described
- ASMD is potentially life-threating, due to damage to multiple organs, including the lungs, liver, spleen, heart, and in severe cases the nervous system
- The overall estimated incidence is 1 in 250,000; however, the true incidence may be higher
- The diagnosis of ASMD often follows a long path because of the disorder’s rarity and its variability in presentation
While the disease may keep Jack from doing some of the things he loves, it has not stopped him from dreaming. Jack explained that he has three wishes for all those dealing with Niemann-Pick disease: To feel good about themselves, to do whatever they can to be happy, and that someone finds a cure for the disease.
So far, being told ‘no’ hasn’t kept Jack from approaching life with joy and excitement. While it bothers him that his activities can sometimes be limited, Jack maintains a positive attitude: “Some kids, they can’t walk, they can’t talk, they can’t see…But I can do that stuff, and I feel good that I can.”