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My daughter has phenylketonuria. At the disability adjudication committee, the doctor asked when the child was ill. He issued a declaration that it was a chronic disease with a mild course and thus I did not receive a nursing benefit. I want to appeal against this decision. Do I have reason to argue that this is not a mild disease? My daughter has a gene mutation of two R408W mutations. And only thanks to my commitment she is fully fit, and even mentally fit. Could you describe the effects of such a mutation? Please reply.
The mutation described by you in a homozygous form is most often observed in patients with the classic form of phenylketonuria.
However, in phenylketonuria, as in most genetically determined diseases, there is no absolute correlation between genotype and phenotype. Therefore, the basic documents on which the examining physician should rely do not concern the results of the genetic test and the type of mutation, but the results of clinical tests and the course of the disease in your child.
Remember that our expert's answer is informative and will not replace a visit to the doctor.
Krystyna SpodarKrystyna Spodar - specialist in the field of clinical genetics at NZOZ Genomed, ul. Ponczowa 12, 02-971 Warsaw, www.nzoz.genomed.pl, e-mail: [email protected]
The expert answers questions about genetic diseases and congenital malformations, inheritance, and prenatal diagnosis.
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