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Joey Fatone's Wife's Rare Pregnancy Disorder

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An OB/GYN explains the risks.

Joey Fatone, wife Kelly and her daughter

Former 'N Sync member Joey Fatone and wife Kelly's daughter Kloey Alexandra Fatone arrived Monday evening. During her pregnancy, Kelly was diagnosed with a rare genetic condition called Methylene-Tetra-Hydro-Folate-Reductase (MTHFR). Doctors also found blood clots in her lungs.

What is Methylene-Tetra-Hydro-Folate-Reductase? To find out, we asked momlogic's OB/GYN Dr. Suzanne Gilberg-Lenz.

Here's what she had to say:

• MTHFR is an enzyme that is involved in amino acid metabolism in the body. 
• People with MTHFR gene mutations can have a decreased ability to metabolize folic acid and other B vitamins.
• There is no consensus about whether or not MTHFR gene mutations contribute to recurrent miscarriages, but we do know that MTHFR mutations can cause elevated homocysteine, which increases the risk of blood clots.
• MTHFR does NOT increase the baby's chances of being born with Down syndrome. Down syndrome is a SPONTANEOUS genetic mutation that is not "caused" by any medical conditions and is not inherited. It is a random occurrence whose probability is increased by maternal age, as are many other spontaneous genetic mutations.
• MTHFR gene mutations are fairly common; nearly half the population of the United States may be at least heterozygous (carrying one copy) for an MTHFR gene mutation, which probably does NOT increase their risk for anything.
• Those with 2 copies of the mutation are considered to have a "rare" disease, as they number less than 200,000 in the U.S. Very few of these people actually have a severe disease, however.
• The great news is that the mutation may be overridden by consuming higher than average quantities of folic acid and B-complex vitamins.

"An important issue to raise here is that pregnancy itself, due to hormonal changes, raises the risk of blood clots forming from the average person's baseline risk by 20 times or more," explains Dr. Gilberg-Lenz. "Travel, dehydration, and a myriad of other conditions that increase risk further can lead to potentially life-threatening conditions such as deep vein thrombosis (blood clots) or pulmonary embolus (clots which break off and travel to the lungs)."

We're happy that Kelly is recovering nicely, and that Baby Kloey is happy and healthy.



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47 comments so far | Post a comment now
Tabitha January 20, 2010, 2:08 PM

I LOVE that you wrote about this. I was dx with Compound Hetrozygous MTHFR at 7 weeks pregnant when they found a SCH. My research is many doctors no nothing about this. I have seen 6…none of wich think i need any extra care other then Folic acid and B vitamins. I take BA because I have read you need to thin your blood with these mutations…i have pused for lovenox but they disagree. My homocesystin levels are normal and I lost my first and only other pregnancy at 14 weeks. If you can help I would love you hear your opinion. I am currently 30 weeks…but my research has shown a large amount of woman with mthfr have problems late on in pregnancy and many have still births. Good or bad i would like to know if i were your patient would you put me on lovenox? I wish i could find a doctor that could help me out! Thanks Tabitha

Tabitha January 20, 2010, 2:08 PM

I LOVE that you wrote about this. I was dx with Compound Hetrozygous MTHFR at 7 weeks pregnant when they found a SCH. My research is many doctors no nothing about this. I have seen 6…none of wich think i need any extra care other then Folic acid and B vitamins. I take BA because I have read you need to thin your blood with these mutations…i have pused for lovenox but they disagree. My homocesystin levels are normal and I lost my first and only other pregnancy at 14 weeks. If you can help I would love you hear your opinion. I am currently 30 weeks…but my research has shown a large amount of woman with mthfr have problems late on in pregnancy and many have still births. Good or bad i would like to know if i were your patient would you put me on lovenox? I wish i could find a doctor that could help me out! Thanks Tabitha

Tabitha January 20, 2010, 2:09 PM

I LOVE that you wrote about this. I was dx with Compound Hetrozygous MTHFR at 7 weeks pregnant when they found a SCH. My research is many doctors no nothing about this. I have seen 6…none of wich think i need any extra care other then Folic acid and B vitamins. I take BA because I have read you need to thin your blood with these mutations…i have pused for lovenox but they disagree. My homocesystin levels are normal and I lost my first and only other pregnancy at 14 weeks. If you can help I would love you hear your opinion. I am currently 30 weeks…but my research has shown a large amount of woman with mthfr have problems late on in pregnancy and many have still births. Good or bad i would like to know if i were your patient would you put me on lovenox? I wish i could find a doctor that could help me out! Thanks Tabitha

Kelly February 2, 2010, 6:03 AM

I have the MTHFR Single Gene Mutation which was found during my second pregnancy by a very thorough OBGYN who was concerned about the severe eclampsia that I suffered with my first (I normally have problems with very low blood pressure, not high). I need to take baby aspirin and extra folic acid supplements even with the single gene mutation. I know the double mutation is much worse. This is a genetic disorder and I can’t believe it is not routinely tested for, especially during pregnancy.

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