Friday, August 21, 2015

Everyone Has Something (Carrier Screening Results)

We received the results of our genetic testing.  As suspected, we each have something......but luckily we both have different things.

Mark's results:

Positive: Carrier

Salla disease

Teri not found to be a carrier. Mark is a carrier. Risk of affected child: 1 in 2,000
The most common form of Salla disease causes a slow, progressive decline in motor and intellectual abilities, with symptoms beginning in the first year of life. There is no effective treatment available. Adults with the disease are profoundly intellectually disabled, but live normal lifespans. Another form of the disease is more severe, causing death in early childhood. Learn More

This is a pretty terrible and also very rare disease.  This is the first time our genetic counselor has even seem someone be a carrier. It is mostly found in northern Finland - there are only 30 documented cases outside of Finland.  (Mark must have some Finnish that he didn't know about?)

Luckily carriers are only that - they do not typically experience any symptoms.  Also lucky is the fact that I am not a carrier so our risk of passing to our children is very, very, very low.

My results:

Positive: Carrier At Risk for Symptoms

Pseudocholinesterase deficiency

Teri is a carrier. Mark not found to be a carrier. Risk of affected child: 1 in 640
Pseudocholinesterase deficiency causes sensitivity to particular forms of surgical anesthesia. After receiving these drugs, people may experience a longer than normal period of breathing paralysis, but medical teams are typically equipped to handle such an event. The condition does not cause any other symptoms. Learn More

This is more common than Salla Disease, but not exactly super common either.  It is more commonly found in Native Americans (possibly from me being 1/16th Mesquaki?) and the Persian Jewish community.

Luckily this isn't really that bad - basically it takes you longer than normal to fully come out from anesthesia - and Mark is not also a carrier.

Not so lucky is that carriers can also experience symptoms, although not as severely as those who have the condition.  It may have taken me a bit longer to come out from anesthesia but probably so little time that it never became a concern.

So good news.  So far things are going well and we now have a few less things to worry about.

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