USA Genetics Hospital visit
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Hello,
We are trying to raise money to help get our daughter to the USA to recieve treatment and tests at the biggest genetics hospital in the world the NIH in Bethesda Maryland.
Clara is now 5 yrs old and has a very rare syndrome called Smith Lemli Opitz which effects her life everyday she has it severely. Its a very harsh syndrome causing my daughter to have to fight for everything we take for granted in life ie sitting, standing, holding items. talking, eating, growing. The doctors in the UK know very little about it so we need to get to the USA to get the most updated information and advice available to us. Please help if you can to get clara to the only professionals in the world to help us get the best care we can for our daughter.
Smith-Lemli-Opitz syndrome (SLOS) is an inherited condition in which the body's ability to make cholesterol is impaired due to deficiency of the 7-dehydrocholesterol reductase enzyme. It is caused by mutations in the DHCR7 gene.
Smith-Lemli-Opitz syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by distinctive facial features, small head size (microcephaly), intellectual disability or learning problems, and behavioral problems. Many affected children have the characteristic features of autism, a developmental condition that affects communication and social interaction. Malformations of the heart, lungs, kidneys, gastrointestinal tract, and genitalia are also common. Infants with Smith-Lemli-Opitz syndrome have weak muscle tone (hypotonia), experience feeding difficulties, and tend to grow more slowly than other infants. Most affected individuals have fused second and third toes (syndactyly), and some have extra fingers or toes (polydactyly).
The signs and symptoms of Smith-Lemli-Opitz syndrome vary widely. Severe cases can be life-threatening and involve profound intellectual disability and major physical abnormalities.
Thank you so much for taking the time to read our story and to help if you can ❤
We are trying to raise money to help get our daughter to the USA to recieve treatment and tests at the biggest genetics hospital in the world the NIH in Bethesda Maryland.
Clara is now 5 yrs old and has a very rare syndrome called Smith Lemli Opitz which effects her life everyday she has it severely. Its a very harsh syndrome causing my daughter to have to fight for everything we take for granted in life ie sitting, standing, holding items. talking, eating, growing. The doctors in the UK know very little about it so we need to get to the USA to get the most updated information and advice available to us. Please help if you can to get clara to the only professionals in the world to help us get the best care we can for our daughter.
Smith-Lemli-Opitz syndrome (SLOS) is an inherited condition in which the body's ability to make cholesterol is impaired due to deficiency of the 7-dehydrocholesterol reductase enzyme. It is caused by mutations in the DHCR7 gene.
Smith-Lemli-Opitz syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by distinctive facial features, small head size (microcephaly), intellectual disability or learning problems, and behavioral problems. Many affected children have the characteristic features of autism, a developmental condition that affects communication and social interaction. Malformations of the heart, lungs, kidneys, gastrointestinal tract, and genitalia are also common. Infants with Smith-Lemli-Opitz syndrome have weak muscle tone (hypotonia), experience feeding difficulties, and tend to grow more slowly than other infants. Most affected individuals have fused second and third toes (syndactyly), and some have extra fingers or toes (polydactyly).
The signs and symptoms of Smith-Lemli-Opitz syndrome vary widely. Severe cases can be life-threatening and involve profound intellectual disability and major physical abnormalities.
Thank you so much for taking the time to read our story and to help if you can ❤
Organizer
Clara Walsh
Organizer
