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.
The Content on this Site is presented in a summary fashion, and is intended to be used for educational and entertainment purposes only. It is not intended to be and should not be interpreted as medical advice or a diagnosis of any health or fitness problem, condition or disease; or a recommendation for a specific test, doctor, care provider, procedure, treatment plan, product, or course of action. MedHelp is not a medical or healthcare provider and your use of this Site does not create a doctor / patient relationship. We disclaim all responsibility for the professional qualifications and licensing of, and services provided by, any physician or other health providers posting on or otherwise referred to on this Site and/or any Third Party Site. Never disregard the medical advice of your physician or health professional, or delay in seeking such advice, because of something you read on this Site. We offer this Site AS IS and without any warranties. By using this Site you agree to the following Terms and Conditions. If you think you may have a medical emergency, call your physician or 911 immediately.