Genetics

Our long awaited results came back from our whole exome sequencing panel – aka – our genetic tests. This was a full panel that ran DNA amongst myself, Tha, and Enoch.

They found that I am a carrier of nephronophthisis disease – which is is an autosomal raecessive kidney disease leading to end-stage renal failure in children and young adults. I am a carrier, but that does not neccesarily mean I have the condition. Most importantly – both Tha and I would need to be carriers of this gene in order to pass it onto Enoch, which is RARE.
The results showed that only I have it – so these findings really set us all back to square one. Because that means it would be impossible for Enoch to have the diesase. Three different nephrologists were certain that Enoch had PKD (Polycystic Kidney Disease) and needed the data from genetics to confirm their hypothesis. Now what?

The genetic counselor recommended a smaller panel that is exclusive for kidney genes. This will hopefully give the doctor’s better insight as they search for the 385 kidney genes VS 20,000 for the full exome panel. When searching for 20,000 genes, you are more likely to miss one, however the chances are not likely. Searching for a kidney disease in this smaller panel should not allow for any to get missed.

So again,

The doctors don’t know.

Genetics is asking for all of our family to get kidney ultrasounds done to see if any of us have cysts. They could not find the gene for it. Enoch’s ultrasound imaging could not confirm. A biopsy is completely out the picture.

They want to try tracking the kidney disease in his retina and have referred him to see an opthamologist.

There were other findings of diseases that we carry in our genes, one of them being Glucose-6-phosphate dehydrogenase deficiency – also known as G6PD deficiency. This could be the reason for his persistent anemia and the need for the blood transfusion he had in November. Severe cases of this disease do show possibilities leading to kidney failure. Enoch will now need to see a Hemotologist moving forward.

I’m just not really sure how to feel, considering that ALL of his doctors were relying on the genetic testing to confirm their confidence in him having polycystic kidney disease. It is still not completely ruled out of the picture – but the genetic counselor did comment that it would be very unlikely that they missed both genes in myself and my husband’s panel.

I don’t know. I am at a loss for words. I need to leave it up to God.