Help Noah meet his rare family and help science
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Noah has a diagnosis so rare there are only 65 registered cases worldwide and we are trying to travel to New York City for the chance to participate in genome research and meet other children with the same diagnosis.
Noah, age 3, has an abnormality on chromosome 8p. The disorder means Noah has very limited speech, suffers from severe delays in all areas of development, has a number of congenital heart abnormalities, and intellectual disabilities. Noah needs 1:1 support in all areas of his life and to ensure his safety day to day.
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 deletion syndrome.
Having a child with such a rare disorder means we have had few answers about Noah's future. For more than 7,000 rare diseases, ninety five percent have no treatment. Seeking information, we discovered a Facebook group for families of kids with the same diagnosis. We learned the 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, 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 in June to meet researchers who may finally help us get some answers hidden in our 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. We will finally meet another family who understands the reality of life with 8p deletion syndrome.
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. We are hoping our participation in this study can change that.
We are hoping to attend the gathering and have set up this GoFundMe page in an attempt to raise funds to make it possible. If we are not able to raise enough funds to attend, we will donate any monies raised to the research project.
Noah, age 3, has an abnormality on chromosome 8p. The disorder means Noah has very limited speech, suffers from severe delays in all areas of development, has a number of congenital heart abnormalities, and intellectual disabilities. Noah needs 1:1 support in all areas of his life and to ensure his safety day to day.
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 deletion syndrome.
Having a child with such a rare disorder means we have had few answers about Noah's future. For more than 7,000 rare diseases, ninety five percent have no treatment. Seeking information, we discovered a Facebook group for families of kids with the same diagnosis. We learned the 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, 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 in June to meet researchers who may finally help us get some answers hidden in our 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. We will finally meet another family who understands the reality of life with 8p deletion syndrome.
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. We are hoping our participation in this study can change that.
We are hoping to attend the gathering and have set up this GoFundMe page in an attempt to raise funds to make it possible. If we are not able to raise enough funds to attend, we will donate any monies raised to the research project.
Organizer
Aimee Locke
Organizer
England
