New Here, Genetic Issues, Worried, and Apparently Posting Long Rambling Messages!

[faithful96]

Hello all (I have posted this a few places as I am still learning where I belong):

I have been reading Fertile Thoughts for awhile now it has been so helpful. Thank you all for sharing your experiences. I am looking for a supportive place to "hang my hat" while I go through this process. [Edited to add: This turned out to be a long post, sorry about that!]

I was recently diagnosed with a Hetero Prothrombin Gene Mutation, a Hetero C677T MTHFR, elevated CardioLipin IGM Autoantibodies at 34 and a possible Protein S Deficiency (my levels are 53, shy below the 60+). I also had a fairly decent cholesterol panel, but my LDL was sky high at 194. Both my parents had heart bypass surgery in their 50's. It's not good to have 3-4 clotting factors, high LDL, and family heart disease. Clots + small veins can lead to heart attacks.

Needless to say it's been a rough few weeks. I was blissfully unaware for 34 years of my life, without the stress and anxiety and the worry of this. Now that comfort is completely gone. I am trying to remind myself that I am very, very lucky, as I have never experienced a clot. In fact, I have flown so many times, without incident. However right now everything is just so new and scary and I'm still trying to understand it all.

I initially went for the genetic tests, not because of miscarriages, but because my uncle was diagnosed with numerous genetic Thrombotic factors. At the time, DH and I were discussing having children -- and now it has (obviously) become much more complicated. The flip side is, I am lucky we didn't want to have children earlier, as I would have put myself and any possible babies at great risk.

We are not yet TTC as I have to have various medical tests prior. However, we are shooting to start TTC in September or October. It feels like a lot of doctor time, but from what I am reading, that's just the name of the game and I have to get used to it.

On referral from my primary doctor, I am seeing another Hematologist for a second opinion. I really liked Hematologist 1 and I am very curious to see if Hematologist 2's course of treatment jives. The protocol Doc 1 recommended if we choose to not have children would be oral blood thinners, oral cholesterol medicine, a low-fat diet, increased activity, Lovenox for flying/long car rides, a baby aspirin a day, and 1mg of prescription folate a day. The protocol if we TTC matches a lot of what I have seen on this site (for some reason that made me very comforted/relieved). It is 1 baby aspirin a day, 4mg of prescription folate a daily, and twice daily Lovenox shots. Incidentally, my primary doctor almost sarcastically commented we should just consider adoption. That seemed very defeatist to me and not in line with what Doc 1 or what I have learned from sucessful ladies on this board. I feel like I can have a viable pregnancy. It is very important to me that I remain my own advocate on this journey and research and learn instead of just blindly following doctors.

I am not upset about the needles, but am worrying about about hemorrhaging due to the blood thinners. I am also worried about other factors (non-genetic) that could cause issues with TTC.

Can anyone suggest additional tests I should have done prior to TTC? Honestly everything Doc 1 said intially went over (around?) my head because upon hearing the tests results, I was just so upset. Since then, I have done significant research and am compiling a list of questions for the Hematologist next week.

I read something about Homocysteine levels? I am not sure I had mine tested. Also, do high-risk OB/GYNS run a standard panel of tests above and beyond these genetic tests? I will also happily take any advice -- as there are not a lot of people in my real life that I can share my diagnosis with.

Thank you for any support (and for reading this novella) !!

[rjc0704]

Faithful96 - I'm sorry for the turn of events you are going through. I agree, you have to be your own advocate! You need a positive, but realistic expecation from your doctors!

I'm sorry I can't help with your specific issues, but I could recommend you join the SIRM message boards for free.
Sher Institute for reproductive medicne. www.sirm.com or haveababy.com

They specialize in reproductive treatments and are advocates for immunity issues and other factors that may affect fertility and preg outcome. Poke around on there and you will see how involved the doctors are in aswering questions. Ask for a DR response in your post heading and they will most always respond within 24 hours! They even spoke on the phone for me for free!

They may have some advice and direction for you. They are truely awesome and knowlegable. GOOD LUCK!!!