Peroxisomal Biogenesis Disorder

Peroxisomal disorder, what is it?

It is a very complex disorder, until today, I am still researching and I am still trying to understand. Thanks to google, I was able to find an easy breakdown.

Peroxisomal disorders are a group of hereditary metabolic disorders that occur when peroxisomes are missing or do not function correctly in the body. Hereditary disorders occur when parents pass the defective genes that cause these disorders on to their children.
Peroxisomes are tiny components within cells. In some ways, they are like a cell’s organs (organelles). Peroxisomes contain chemical substances called enzymes, such as catalase and peroxidase, that help the body break down (metabolize) fatty acids and hydrogen peroxide. When the enzymes do not work correctly, fatty acids and hydrogen peroxide build up, causing damage in many areas in the body.
There are different types of inherited disorders. In most peroxisomal disorders, both parents of the affected child carry a copy of the abnormal gene. Because usually two copies of the abnormal gene are necessary for the disorder to occur, usually neither parent has the disorder. Some peroxisomal disorders are X-linked, which means only one copy of the abnormal gene can cause the disorder in boys.
Source :,are%20tiny%20components%20within%20cells.
Why wasn’t it detected during pregnancy?
Unfortunately, it cannot be detected during pregnancy, unless a previous child or a family member haves the disorder. I am really trying to say this without being bitter. The cost for the test is expensive and it would be a waste of resources to test the amniotic fluid of every pregnant women. In other words, no known family history, no testing.
How did Nathaniel get diagnosed?
I’m still trying to hold in my anger as I’m saying this.  Nathan was showing every sign; Hypotonic, seizures, laryngomalacia, etc… Yet we waited 2 months for a diagnosis. The test is expensive and is only done in the US. They really wanted to narrow down anything possible before going that route.
What are the odds?
1 in 50,000 births in North America is affected by a peroxisomal disorder.
The guilt of knowing that we both carried a variant gene causing this is unbearable. Yes, we know it’s not our fault and we couldn’t have prevented it but part of us still tries to find someone or something to blame and who else then ourselves? One of the genes was nonconclusive, meaning it could or could not be a factor. My husband still tries to find answers in the paper work.
Will you have more children?
The chances of having a child carrying the mutation is 1 out of 4. Therefore, we could have a child carrying only one copy of the variation from either my husband or myself and them still be healthy. We could also have a child who doesn’t carry any copy of the variation. Or we could have a child with both copy and find ourselves in this situation again. Honestly, as much as I wanted a big family, I refuse to put another human being through what Nathan had to go through. It often feels as he came to suffer. We were very lucky our second child was not a Carrier. Frankly, the risk we took by conceiving another child was great. But God made it happen. We owe it all to Him. If we really wanted to have a bigger family IVF would be our best option. The eggs and sperm can be tested before fertilization and implementation. However just the testing itself is 7000$ and does not include IVF.
Is there a cure?
Unfortunately, there is no cure. Children carrying this disorder have a short life. The focus is on quality of life and symptoms management. I do pray one day they find a cure 🙏

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