Jewish Genes: What We Don’t Know Could Kill Us

I was in a sleep deprived haze, similar to all mothers who bring their newborns home, when I received the call from my daughter’s pediatrician’s office stating something popped up on her newborn screening test and a genetic’s counselor would be following up with me within the next few days.

I hung up the phone puzzled as to what could possibly be wrong with my little bundle of pink perfection. Fifteen minutes later when my phone rang, it was explained to me that one of my daughter’s newborn-screening markers, specifically, her long chain fat markers (C16-C20’s), were slightly off. I was assured that it was probably a false positive as our state cutoff was .09 units of measure and hers was .0913.

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After a blood draw and expedited DNA testing, we found out we had won the rare disease genetics lottery- our daughter had CPT2, a long chain fatty acid disease that didn’t allow her body to convert fat into energy properly and solely relied on glucose to function.

Yeah, I didn’t know what that meant either; especially while still in my sleep-deprived haze.

We were one of the lucky ones, our daughter inherited the S113L, the “mild” version of the disease (the other two phenotypes of CPT2 were fatal, often in the first days to weeks of life).

The “mild” version, we were told, could be easily controlled by diet and certain proactive measures (carnitine supplementation, avoiding fasting, cornstarch at bedtime to prolong glucose levels). It wouldn’t be easy they said (8 years into it, I can certainly attest to that), but with the above mentioned protocols, she was almost certain to have a completely normal and healthy life.

It is estimated that between 300-800 people in the world have CPT2 and it has now been added to the long list of Jewish Genetic Diseases parents can be screened for.

When I was pregnant, CPT2 (along with the majority of metabolic diseases) was not on the Jewish Genetic Screen test. I would have given anything to have had this available to me back when I was pregnant so I would have at least been emotionally prepared for what was ahead of me.

It’s estimated that 80% of babies born with genetic diseases are born to parents with NO known family history of the disease, such as in our case. I also never knew that one in four Jews was a carrier for a genetic disease; I certainly never thought I would be one of them.

For more information on CPT2, click here.

If you are someone you know is planning on starting a family and want more information on testing at home, click here.

[The Jewish Agency & So Tov retains all legal rights to this blog post; please head over to So Tov to read more!]

#FamilyPlanning #CPT2 #JewishBlogger #RareDiseases #GeneticTesting




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