Tuesday, December 18, 2012

MTHFR

I am really bowled over my the latest *thing* in my life, and don't really understand it all, but I wanted to let you know what is going on. Sorry if I don't sound too coherent; I am overwhelmed.

Even though I rarely blog about any of my childrens' health issues out of respect for their privacy, I've mentioned that three of my five children have had serious medical issues. Today after a particular phone call from a doctor, I thought, "wow, my first husband and I were a real genetic train wreck waiting to happen..." Really, I am astounded at how many messed up genes we managed to pass on to our children... I almost feel guilty for it. Like it is my fault for giving them these genes, even though I couldn't help it and didn't know it. I love them all so dearly and it pains me to see them suffer. This latest thing *has* caused my child much suffering but we did not have an answer until today. Apparently he is homozygous for a certain gene defect called MTHFR. You may have heard of this; it's not all that uncommon for people to have *one* gene for MTHFR and often that doesn't affect them so much. But to have *two* copies of the gene, the effects can be pretty bad. You may have deduced as I did that I also have a copy of the MTHFR gene. How it may be affecting me is yet another thing to explore with my doctor, but that is, I suppose, secondary to me seeing the rheumatologist who I have not yet heard from.

The insurance company does not want to pay for the expensive medication my son needs to start. We are trying to convince them. We are also going on a trip to a children's hospital next month to address and assess his other health issues. Oh, and odds are my other son who has liver disease may also be homozygous MTHFR which would explain some of his medical issues. So he really should be tested, too.

I need a break.

15 comments:

Deb Willbefree said...

Oh, Lyn, words fail me. I am so sorry. At least you have a name for the symptoms which should provide some direction, anyway. small comfort, I know.

Prayers. Right now.

Deb

grrillah joy said...

Oh Lyn, I am sorry. :( My husband has a heart condition caused by a gene mutation, and knowing that our kids may have been handed the same issues just hurts. Big hugs.

MargieAnne said...

I do hope that this new knowledge will help you all.

Sometimes being able to name something helps. I hope that is the case here.

Blessings

i should be full said...

Lynn, my heart is aching for you right now. I don't think there is anything more emotionally taxing than dealing with a child's health problems. I know you will take good care of him. I also, know you'll need to take good care of yourself so that you can continue to take good care of him. Reach out whenever you need to. We are your community and we are here to help.

You and your children will be in my thoughts and prayers.

JM said...

this is what I was thinking of! I have 2 copies as well, and it can affect pain issues, etc. That is why I suggested a qualified ND, a great website is mthfr.net
This is totally treatable!! I am on Methylguard, and so are my children!
Totally treatable mutation. It is so common and the root cause of MANY auto immune AND Gluten issues!! Read up on it and PLEASE consider a naturpath who is versed in this condition. Good luck to you and your family

Diana said...

Oh gosh Lyn. This isn't good news at all. I'm already a teary eyed, crying my heart out mess today, then I just read your post.

I'm so sorry to hear about this. I just read a little bit about MTHFR on the web and sounds like it can cause a multitude of health issues.

Take care. Don't blame yourself. There's no way you could have known and now all you can do is what you always do, be there for you kids and help them.

You and your family are in my prayers.

Steelers6 said...

Oh, sweetie. I'm sorry you have so much with which to deal, & largely solo. I must say I was touched by all the kind & thoughtful comments above.

I know that you do your research & learn all you can. Someone mentioned the positive in knowing the name of the problem-that does seem like a step in the right direction, although of course you wish there would be NO problem; no name......

I hope I can research that myself soon. Hugs!!

Lyn said...

Thank you so much for the thoughts and prayers. I spent most of the day searching and reading, trying to learn all I can about this. We will get through it. I so appreciate the kind words and support.

Karen said...

Have you had any thrombosis yet? (clotting?)

The doc can review the risk factors, your specific gene mutation and also recommend other lab testing and frequency of lab testing for monitoring.

Also, if you are being treated by any other doc- let's say GYN or a dentist for a tooth extraction, also let that person know you have the mutation. If you show up at an Urgent care-mention it. That way the docs can factor that part in during diagnosis and treatment of other things.

Ditto for your relatives. All should be screened. Let your siblings and their children know, also.

Factor V leiden Mutation (APC resistance- another clotting mutation) runs in my family. As soon as we found out, I got the word out to my cousins so we could get tested.

more reading
http://labtestsonline.org/understanding/analytes/mthfr/tab/faq

Good luck!!! Having the correct diagnosis is key. Safe travels and read up and get your questions ready. Karen P.

dlamb said...

So sorry, Lyn. Just when you think your plate cannot be more full...Genetics! It is such a crapshoot. One of our local families has three children, ALL of them diagnosed with Autism.

paulawannacracker said...

Lynn, I'm so sorry your children are suffering and I can hear the frustration and worry in your post... Hugs to you and your children. So wish I had words to comfort you and more importantly, advice.

best Lynn. My prayers are with you and your family.

Anonymous said...


I am so sorry that you and your children have chronic illnesses and that you all are suffering

Journo June aka MamaBear said...

Keep fighting, Lyn. I've been doing the MamaBear thing with the medical community for several years now. They think telling you no often enough will make you stop, but they underestimate the tenacity of us mamabears! You will be an amazing advocate for your chlidren and I will be praying you get the answers, medication and help you all need. Knowledge is power. Continue to ask questions about everything!

Ellen Williams said...

Google Dr Neil Rawlins and listen to his lecture. There is a protocol that you can take to your doctor. Also, you can get just about everything on his protocol from Swanson Vitamins. Instead of Deplin which is expensive Swanson vitamin has the active form of L- Methylfolate which cost about $5.00 a bottle and is much cheaper than Deplin!

Ellen Williams said...

Also, go to MTHFR Support. Com and 23andme.com for comprehensive testing!