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Alexander Luhrsen, 4, has an abnormality on chromosome 8p. The disorder means Alexander cannot talk, suffers from brain abnormalities, musculoskeletal disorders and intellectual disabilities. Almost no research has been done on the disorder, which is so rare it doesn’t have a name. Instead it is referred to as 8p Inverted Duplication Deletion Syndrome.
Having a child with such a rare disorder meant his parents, James and Maricarmen, had few answers about Alexander’s future. For more than 7,000 rare diseases, ninety five percent have no treatment. Seeking information, they discovered a Facebook group for families of kids with the same diagnosis. They learned their children share many of the same health and developmental challenges, and many of the kids look astonishingly similar. Some children, though in different countries and completely unrelated, look enough alike to be confused for twins.
One parent, Bina Shah of New York, founded Project 8p and convinced a team of geneticists to research the disorder, recruiting families worldwide to participate in the study. Now families from across the United States, Europe, South America and Asia are trying to find a way to travel to Columbia University, NY in June to meet researchers who may finally help them get some answers hidden in their child’s DNA. The geneticists involved in the study have already begun growing genetic material from one child to try and understand the condition better.
However for many 8p families, the real benefit of the trip is more personal. They will finally meet another family who understands the reality of life with Inversion Deletion Duplication 8p. In fact, actress Denise Richards recently announced that like these children, her daughter is missing a section of chromosome 8p.
Chromosome 8 has about 700 genes. Geneticists still do not know the function of many of these genes, and research like this can lead to new gene therapies. There is currently no cure for this disorder and treatment options are limited. James and Maricarmen Luhrsen are hoping their participation in this study can change that.
Please consider helping our quest to help Alexander and other kids with this diagnosis to reach their highest potential.
Thank you all for your support!
The Luhrsen Family
Having a child with such a rare disorder meant his parents, James and Maricarmen, had few answers about Alexander’s future. For more than 7,000 rare diseases, ninety five percent have no treatment. Seeking information, they discovered a Facebook group for families of kids with the same diagnosis. They learned their children share many of the same health and developmental challenges, and many of the kids look astonishingly similar. Some children, though in different countries and completely unrelated, look enough alike to be confused for twins.
One parent, Bina Shah of New York, founded Project 8p and convinced a team of geneticists to research the disorder, recruiting families worldwide to participate in the study. Now families from across the United States, Europe, South America and Asia are trying to find a way to travel to Columbia University, NY in June to meet researchers who may finally help them get some answers hidden in their child’s DNA. The geneticists involved in the study have already begun growing genetic material from one child to try and understand the condition better.
However for many 8p families, the real benefit of the trip is more personal. They will finally meet another family who understands the reality of life with Inversion Deletion Duplication 8p. In fact, actress Denise Richards recently announced that like these children, her daughter is missing a section of chromosome 8p.
Chromosome 8 has about 700 genes. Geneticists still do not know the function of many of these genes, and research like this can lead to new gene therapies. There is currently no cure for this disorder and treatment options are limited. James and Maricarmen Luhrsen are hoping their participation in this study can change that.
Please consider helping our quest to help Alexander and other kids with this diagnosis to reach their highest potential.
Thank you all for your support!
The Luhrsen Family