Conflicting Diagnosis

While Hematologist #2 confirmed I do not currently need to be on oral blood thinners and that I don’t have to do a complete retake of my bloodwork, he was a complete asshole, and I won’t be returning.  Furthermore, some of his diagnosis contradicted the first doctor (and a lot of my research), so I came out of the appointment confused and upset.

He completely blew off my Prothrombin Gene Mutation, Hetero MTHFR, and slight Protein S difficency — saying they were not a big deal!   It was such a departure from what I had learned from the inital doctor and what I had read on the internet, that I was really taken aback.  He did, however, draw additional blood regarding AntiCardioLipin IgM (we are waiting for the results still) — but explained he didn’t think it was an issue either.   He also felt I did not need to medicate to fly and I did not need to medicate to have a child either.   There is a significant and drastic  difference between injecting yourself with blood thinners for 1- air travel and 2-  twice daily for the duration of trying to conceive and pregnancy and, you know, not doing that at all.     

I think the reason that hematologist #2 is Mr. Casual is due to my never having a clot -or- a miscarriage.  He flat out told me he would not prescribe Lovenox until I had multiple miscarriages or a clotting event.  I think that’s heartless, frankly.  Especially since he didn’t feel there would be harmful side effects to me while on the Lovenox?  Without the meds, a woman with my situation could miscarry often and/or throw a life-threatening clot during pregnancy – so why not be proactive?  He actually questioned why I had the tests done in the first place?  Hi- there is a huge family history of stroke from these types of mutations.  My husband and I didn’t particularly like his demeanor so I won’t be returning.  He started off with some pretty offensive comments and then was cracking jokes and implied we were wasting his time as he sees people “so much sicker than me.”  I kept thinking, but I am here now, and this is very real to me, and you’ll have no problem charging $400 for this 30 minutes, huh?  He also made some snarky comments at Hematologists #1 diagnosis and protocol — and I think that’s very unprofessional.

Tim and I have had a few days to digest everything and I think we have a plan of action now.    For the time being, I am going to stick with Hematologist #1.  For peace of mind, and the slim chance I will clot on a plane, I will inject Lovenox before I fly.   Both doctors informed me I should not try to conceive prior to consulting with a high risk OB/GYN.   Given this, we have decided to table even the decision to have children till after I get through all these tests and sit down with a high risk OB/GYN.   It’s just logical that we cannot make such a decision without knowing all the risks.  

We have since located a well-reputed, high risk OB. In fact, this doctor has a specialty in dealing with women with my type of genetic mutations.  He also practices at the hospital my family is comfortable with.   That’s helpful, because while I will be my own advocate and choose the doctors I want, it will be significantly easier if my family is on board.     The first appointment the OB had for a “pre-conception consultation” was August 5, so I took it.  While inquiring about the high risk OB, I asked for the name of the best hematologist around.  At the end of the summer, I may get the “tiebreaking” opinion from him.  

I have not yet told the bulk of the people in my life what’s going on.  I’ve been visiting doctors nonstop for the past few weeks and have also become withdrawn.  At first it was because I really didn’t understand it (so how could I explain it?)  coupled with an intense need for privacy.  It’s still some of that now.    People are asking me why our relationships have suffered and I don’t know what to say.   I am just tired all the time.   I don’t want to be pitied, I don’t want to be the center of attention, and I don’t want to have to re-hash this again and again.    Right now, it just upsets me — so talking about it over and over and reassuring people doesn’t help me. 

We are flying to Florida to visit family in a 10 days and I’ll be bringing my needles.    I’m not at all upset about injecting blood thinners to fly, because as my primary doctor said, if there is a 1% risk of clotting, that’s enough.  I’m more worried about explaining the needles to my mother and my traveling companions.

Diagnosis from Dad

I have an appointment with the second hematologist tomorrow.   My husband and father are joining me.  This will be their first interaction with one of my doctors and while my husband and I are (mostly) on the same page, my father is in a completely different library.   I must confess that part of the reason I agreed to the second opinion is because my father is either treating my diagnosis casually or demanding protocol neither of my doctors agree with.    He is demanding that I go on oral medications; mind you these are medications I am not allowed to take if we want to try to conceive.  Furthermore, my doctor is unwilling to prescribe them even if we opt to not have children.  My father also feels my prescription for blood thinning needles prior to flying is “reactionary and ridiculous.”       Not to mention, he is also suggesting a complete redo of my blood work.    

I am hoping the face-to-face time with the hematologist will demonstrate the realities of my situation to my father so he can get out of his alternate universe and on board with my doctors.   It’s exhausting dealing with him.  Right now, I’d really like to focus on me.

I am a 34 year old woman and I believe I finally understand my diagnosis and Tim and I are working with my initial doctor on a treatment plan we are comfortable with.  I have also done a significant amount of research and am ready to advocate strongly for what I believe in. 

Yesterday I point blank told my father how MY appointment with MY doctor will proceed tomorrow.   I explained the format:    I want to hear this doctor’s diagnosis.  I want to hear his care plan/protocol recommendations and what my precautions and proactive behaviors should be.  THEN I have a list of questions.  THEN my father can speak. 

My father informed me today his plan for how the appointment should go.  I reminded him AGAIN of the above and reiterated the discussion we had yesterday.   I know my father loves his children beyond anything and he is probably in denial or trying to treat this casually because he feels that’s what I need.  However, we have been through this with my sister’s MS diagnosis and he was a domineering and in fact damaging influence then.  He kept vital medical information from her (she’s 22 not 16) until she had to intervene and demand her HIPPA rights.   

I will be relieved when the appointment is over.

Needles Round 1

Tomorrow I am heading to my Hematologists office to learn how to shoot myself up with Lovemax. Sigh.

Infertility?

The more I am learning, the more I see that these genetic mutations I’ve inherited are serious contributors to infertility.

It’s been a really shitty couple of days. I’m upset and worried and probably need to talk to my doctor about some anxiety — I cannot be walking around waiting for a blood clot.

Complicated

So my blood tests are back, and I have inherited multiple genetic blood clotting factors.   

Part of me had hoped this genetic ass-kicking would have passed me by, and I was pretty upset when the doctor was explaining it to me.  I finally asked him to write it all down and I would reflect and get back to him, and honestly nothing was processing anyway.  Furthermore, Tim is away on business, working 18 hour days, so I have been dealing with the aftermath alone.  I had to schedule 5 additional doctors appointments, yesterday.  That’s FIVE different doctors  prior to June 2.

To be detailed, I have:

1- Hetero Prothrombian Gene Mutation (also referred to as G2021A and/or Factor II)
2- Hetero MTHFR
3- CardioLipin IGM Autoantibodies at a 34, <10 is a good number.
4- Protein S Dificiency at a 53, just shy of the normal 60+
5- An LDL of 194, while all my other levels (triglycerides, etc) are average.

The top 4 are all “increased risk of blood clotting” and my LDL is also worrisome as both my parents, but more particularly my mother, had quadruple by-pass in their 50’s.   So increased risk of clotting, plus a family history of heart disease, is a shitty combination.  Simply put, blood clots can lead to heart attacks.

I am scared but trying to educate myself.  I am also in a precarious position.  The oral medicines (like blood thinners and cholesterol medicines)  prescribed to someone with my particular cocktail of blood clotting issues cannot be prescribed to someone who is trying to conceive.

In fact, if we choose to have children, it would be a high-risk preganancy, not just because of my “advanced age of 34/35″ – but because normal pregnancy increases your risk of clotting.    My factors contribute the risk of increased miscarriage, clotting in the placenta, throwing a clot during delivery, and a few other things.   To combat those possible outcomes, I would need to do blood thinner needles twice a day, while we try to conceive and during the entire pregnancy.    However, there is also a risk with the needles/injections too, like hemorraging and increased bleeding, etc.     In my online research, most of the women who have been diagnosed with the same, are discussing it in conjunction with infertility.  It seems people normally run this gambit of genetic testing, after multiple miscarriages.     Currently, my entire family is in the process of being tested, ever since my uncle was diagnosed with multiple genetic clotting mutations in the late 90’s.   In one respect I am lucky, I did not inherit all the factors he did – and my factors are heterozygous, meaning they only come from one parent – not both. 

I often wonder if there is a cosmic agenda?  What if after I had gotten married at 25 we had immediately attempted to have children?  I would have put myself and any possible babies at great risk.  Furthermore,  my husband and I have always been against the birth control pill.   A woman with the prothrombin gene mutation who uses oral contraceptives has a risk for deep vein clotting sixteenfold.  16x.  Damn.   Birth control could have triggered a clot for me!   Maybe everything really does happen for a reason.

As we are not currently trying to conceive, I  am learning what my risks are HERE AND NOW.    In the meantime,  I have been prescribed folate, baby asprin, and omega 3’s.  I have had to change my diet and increase my phsyical activity.   I have to inject myself with blood thinners before airline flights and long car rides.  And I just scheduled an appointment with a second hemotologist — second opinions are always a good idea.  There is not much I can do but protect myself.  In fact,  I am still reacting, reflecting and researching.  It’s still to new to me.

New Year’s Eve

My friend Jill is getting married on New Year’s Eve and I am in the wedding.  My goal is to lose 30lbs prior.  I have 8ish months.    Today I drank a boatload of water and counted calories.  Day 1, down.  Tomorrow we are going to the gym. 

I am waiting for the test results from my Big Blood Test.   It was 30+ vials.   I have to go back tomorrow for them to redo 1 test.  Something about a data entry error.