Hypothetically, if I had a child who has Phenylketonuria (PKU) and I am pregnant with another child now, the chance of my unborn child having PKU is possible, considering it is an autosomal recessive disorder. If I do not have medical insurance to pay all the medical bills and the special diet needed for people with PKU, how can I afford it? Are there alternative ways to pay for this? How can I go about this?
You are correct, PKU is an autosomal recessive condition. If two people who are carriers for PKU have children together, there is a 25% chance to have a child affected with PKU and a 50% chance to have a child who is a carrier of PKU. For a family with one affected child, if the same mother and father were to have more children, the chance to have another child affected with PKU would be 25%. If the father of the current pregnancy is different, he can have testing to determine if he is a carrier for PKU. If he is not, then your current pregnancy would have a 50% of being a carrier of PKU, but we would not expect this pregnancy to be at increased risk of inheriting PKU.
As you know, PKU is a metabolic condition in which individuals have none or very small amount of phenylalanine hydroxylase activity. People with PKU cannot tolerate eating the essential amnio acid called phenylalanine and need to follow a particular diet. If the diet is not restricted from phenylalanine, most children with PKU develop severe mental retardation.
There are advocacy groups to help families with PKU. One of which is called the Children’s PKU network, and they offer to scholarships to families to help with costs of special food and formula. They have a website with additional information that may help. Best wishes to you.
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