Hi Everyone,

I just wanted to introduce myself here. I'm guessing this is the right forum.

About me: In August of 2002 I had a little boy who appeared healthy upon delivery. At 8 weeks old he was diagnosed with SMA (Spinal Muscular Atrophy), a very severe form of Muscular Dystrophy. He died at 4 months and 6 days old. SMA is an autosomal recessive disorder. My husband and I both carry the defective copy of the gene. We did not know this until our son was diagnosed.

In March of '03, 3 months after our son died, I got pregnant and miscarried at 6 weeks.

In July of '03, we did a cycle of IVF with donor eggs that did not work.

In September of '03, we did a PGD/IVF cycle that also did not work (and put us in the red by about $25,000!)

In April of '04, I got pregnant and had a cvs test done and we found out that we were having a daughter who was free of SMA. We were elated! She is 14 months old now and doing GREAT!

In August of '05, I got pregnant again and had the cvs test again and we found out that we were having a little boy, who was also free of SMA! Again, we were elated. And then I started bleeding. I bled for 10 weeks. They kept checking me and just said I was bleeding from behind the placenta but they could not figure out how to stop it or why it was happening. When I was 18 weeks pregnant, I began losing more blood than I had lost the previous 10 weeks. I went to the ER for the third time that month. I was losing huge clots. And then my placenta tore away from the uterine wall. I delivered our "healthy" son. He was too young to survive. We had him cremated and are burying him tomorrow, with his older brother.

This has all been very hard for us. We are determined to have another child despite our risks. Our daughter deserves to have a sibling and we very much would like to have one more child.

I have an appointment with my ob/gyn in about 6 weeks. I want her to run some tests for me. After reading here, I would not be at all surprised if I have thrombophilias or MTHFR. I am going to demand that I be tested for that. Those of you who have shared your experiences with MTHFR sound really similar to my own.

Is the test done by a blood draw or is it more invasive? Is there anything else you recommend that I ask to be tested for? Can my ob/gyn order these tests or would I have to see a geneticist again, or possibly a RE? I want to be sure all my bases are covered. We won't TTC again until I have some answers and possibly a treatment. I really don't want to lose another baby.

If you're still reading, thanks for sticking with me! I look forward to getting to know you all!

Hi Murphy's Law. I don't have any answers to your questions, but I just felt compelled to write and say how sorry I am for all that you've been through. You are in my thoughts and prayers. Hug your daughter a bit tighter tonight...you are blessed to have her, and I pray that she is blessed with a sibling in the near future. I hope you find answers to your questions.

Take care,
Stacy

while i do not have any answers to the questions on mfthr testing ( you may want to try the immune issue board for that) i wanted to send you :hug:s on the losses of your two sons. having lost a child myself i know how incredibly heartbreaking it can be and is on a daily basis. please come over to the parenting sectiona nd join us on the loss of an infant/child forum. we would love to hear more about BOTH of your sons and the ladies there are truely a lifeline.

I am so sorry for your losses.
I admire your courage tremendously. You are an inspiration to me.

i wish i had answers to give you, but i dont instead :hug: :pray

Good luck to you. I'm sorry for your losses. Jann

I am so sorry for you....please know you are in my thoughts.

Linda

I am so sorry for all that you've been through. As for the testing for MTHFR, thrombophilias, etc, they're done through a blood draw. Any genetic testing for inherited thrombophilia (MTHFR, Prothrombin, Leiden Factor V, etc.) will be done by culturing white blood cells and examining the segments of the chromsomes where each of those genes are known to "reside". As for the acquired thromobophilias (APA, AcL, lupus anticoagulant, etc.) or "dysfunctional" factors (Antithrombin III, Protein C, Protein S, PT, PPT, etc.) they will look at either the antibodies, if present, or they will test how well the particular factor does it's job.

I've had all of those tests listed above done and it requires arond 11-12 tubes to be drawn and takes about 1-2 weeks to get the results back depending on the lab.

GL and hope you get some answers.

Connie
Hashimoto's thyroiditis, "indeterminate" ACA & homozygous MTHFR C677T
7 early m/c (10/99, 12/01, 7/02, 2/04, 2/05, 6/05, 8/05)
1 2nd trimester missed m/c @ 14w3d 11/23/05

Thanks for the welcome and the helpful info! I am seeing the doctor 4/24 and will request to be tested then.

Hi Laurie,

First of all, I want to reassure you that there are very specific answers to most of your questions...........since so many of us here have genetic/immune issues-we all tend to help eachother out.

After 3 m/c's myself, and a bunch of doctors here in Southern Texas who thought it must be bad luck-I became a Dr. Beer pt. In a matter of 2 weeks time, I was able to get registered, tested, and results back telling me I have MTHFR+ gene mutation, APA+ antibodies, and thyroid antibodies. I am 38 years old and have nodules on my thyroid, but no one EVER tested me for the ANTIBODIES ! The funny thing is, I am married to an ear, nose, throat surgeon, and even he was surprised since my T3, T4, and TSH have always, and continue to be within normal limits.

The protocol for someone like me to carry a successful pregnancy has been spelled out as:
Baby ASp (81mg daily)
Heparin or some other blood thinner
IVIg
Folgard (extra folic acid with B6 and B12 included)

The reason I am so impressed with being a 'long-distance Dr. Beer patient', is because this man deals day in and day out with immune/genetic issues; even his staff has the ....if this is positive, then we treat it like this"..... mentality. But the experience he has in KNOWING what to test for, in my mind is IMMEASURABLE!! I have spent about $1000 getting his req'd tests, and consults and it is sooooooooooo worth every penny.

Laurie, you seem like a VERY perseverent person. There is no doubt you will get from your doctors what you ask for, but as you said, why not get it done thoroughly and accurately this time, and go on to try conceiving with all the labs/testing completed.

Please go to the immune issues board with any more questions, where you have some seasoned veterans, with many losses, then with accurate diagnosis, many happy healthy pregnancies.

If you want to call CHRIS at Dr. BEER's ofc and say you were referred from your friends at the fertilethoughts website, she can walk you through the simple online registration. (1-408-356-9500)

We can all do this with a simple, day-at-a-time mentality !

I will be thinking of you, and give your little sweet girl a kiss. (I have a 9 yr old from my previous marriage, and she is the light of my life)

-Valerie in Texas (38 yrs. old)

Thanks so much for your response. I'm unfamiliar with Dr. Beer. Can someone give me the skinny on this doctor? Also, my own doctor can order testing, right? Or do I need to see a specialist for that? I have an appt at the end of April with my ob/gyn and I'll ask her all about that. Basically I'm concerned with thrombophilia testing and MTHFR right now. We'll see if I can get tested for that and I'll decide what to do from there based on those results. I'm only 28. I have time to sit on this for a while, and if that's what it takes, I'm okay with it!

Thanks so much for your help so far. I really appreciate your taking the time to help!

Laurie,

Dr. Beer's website is www.repro-med.net

He has MANY links to his protocol, testing, mission statement, etc. For 30 yrs. he has studied immunology and genetics. He goes so far as to test serotonin levels in his pts, since there is a theory out there that women w/serotonin ab's can have children with ADD, ADHD, or autism. He prescribes Lexapro, or Celexa for those pts.

Anyway, I agree with the thrombophilia workup. And I hope you have an aggressive physician who would get your Natural Killer cells tested to make sure they are not overactive - if so, then IVIg is required.

THere are so many pieces to this puzzle, but Dr. Beers website can answer many of your specific questions.

All the best to you,
Valerie in Texas