Son's genetic testing


#1

Quick background: when my son was was born, he was flagged through newborn screening as being at risk for Primary Carnitine Deficiency, a genetically inherited metabolic disorder. It can cause lethargy, cardiac problems, and death. His carnitine level (carnitine is a substance we take in from food which helps us burn fat for energy) was rock bottom, as was mine (due to years of vegetarianism).

Over the past two years, we have gotten a second opinion, a wonderful doctor who decided that since his level went up without supplementation to a “low normal” level, and mine was fine, that there was no disorder. She did want to get him checked again, which we did on Thanksgiving.

His carnitine level went from an 18 (low normal) to a 6 (clinically low) in six months. The doctor admits she doesn’t know what’s going on but has decided it’s time for supplementation and DNA testing to see if he has the genetic disorder.

We are blessed that we can afford the medical testing and procedures. We are also blessed that we have a wonderful doctor who is the local expert on these types of disorders. She is not predicting gloom and doom, but her attitude is, we have a lttle boy with a situation we need to figure out. Just pray that we get some answers and that if he has the disorder, we’ve caught it before his heart was damaged.

Also, there are other disorders that can cause low carnitine, so we’ll need to investigate those as well.

if he does have it,it means that my husband and I are both carriers, and we’ll have to have our other children tested to see if they either have the disorder or are carriers.


#2

I’ll keep your son and family in my prayers.


#3

I thank God for the positives you mention, like early detection financial wellbeing, and a local specialist expert, but I understand that this is a huge issue for your family.

I ask God to help you through this anxious and distressing time. We can’t alter our genetics if it is a genetic problem,
but I ask God to ensure that everything with regard to you little son’s health, and the health of all your family will allow you all to live full, flourishing, happy lives.

God bless you and I hope all will be well, Trishie


#4

You are in my prayers.

We had a scare with our 2nd child when they thought he may have a genetic blood disorder but through the grace of God, everything turned out fine.


#5

Hail Mary,
Full of Grace,
The Lord is with thee.
Blessed art thou among women,
and blessed is the fruit
of thy womb, Jesus.
Holy Mary,
Mother of God,
pray for us sinners now,
and at the hour of our death.
Amen


#6

Praying very hard for him!


#7

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