In My Doctor's Eyes

As I have shared many times before, in April 2012 I was diagnosed with a rare genetic disorder called Homocystinuria. It affects 1/350,000 people worldwide. It is a genetic disorder that is present from birth and is acquired with both parents are carriers for the gene mutation that causes the disease. Long story short-I have two gene mutations which make it difficult for my body to metabolize certain amino acids (proteins). Specifically-I cannot metabolize methionine which is high in meat and dairy products. I was lucky to have lived 25 years with the disease without it causing me to have blood clots, stokes, heart attacks, seizures, and learning delays. I was lucky the disease was found when it was, since research shows the disease will most likely result in death in not treated before the age of 30.

When I was diagnosed and discussed our desire to create a family with my genetic doctor, he informed me the disease is linked to recurrent miscarriage and stillbirth due to blood clots in the mother, the placenta, or the umbilical cord. I was told I would need to follow a strict diet, take food supplements, and be compliant with medication daily to get my disease under control. When we became pregnant in November 2012 I was told I was need to start blood thinner injections daily for my entire pregnancy the moment we heard the heart beat, which I did. In January 2013 my homocysteine level had been cut in half from 100 to 50 during the 2 months I was pregnant, and my doctor was very pleased with how I was responding to the treatment of my disease. When we miscarried our baby at the end of January I was determined as hell to get my level to a normal range, which was thought to be impossible for a patient with Homocystinuria. Normal Homocysteine should be between 5-15. By August 2013 my Homocysteine level was 14 so I was thrilled when we found out we were pregnant in September that my Homocystinuria was completely controlled! At the beginning of October my level was 10-my doctor and nurses were absolutely amazed with how well I was doing:)

Then we found out a week later we had miscarried another baby...our 4th baby. I honestly gave up. I stopped caring about my diet. I stopped taking the medication. I was so angry that I had done everything right and we were going through the pain of losing another baby that we wanted so badly. It was the entire month of November that I just gave up on myself and said 'the hell with it.' Once we were notified we were selected for a Baby Quest Foundation grant and decided we were for sure going to try IVF with pre-implantation genetic screening, I pulled myself back together and my by the beginning of January my Homocysteine level was 20.

Since finding out our IVF cycle was a complete failure, I have really struggled with taking my medication and food supplements. I've honestly been in a state of depression, feeling like no matter what I do right-things just keep going wrong. I've had major anxiety about the future, worrying that perhaps it's not the translocated chromosome we should be worried about and perhaps there's an issue with my body being able to carry to term.

I went to see my genetic doctor today to discuss these concerns with him. We discussed all four of my pregnancies and where I was at in the state of my Homocystinuria disease. I broke down and started crying when I talked about Riley's birth and how we just accepted that the cord strangled her instead of doing testing on the placenta to see if see had a chromosome issue or if there was a blood clot in her placenta or cord. I used to have closure about her death and now I just don't-there were other reasons she could have died that we will never know...and I am so angry that my doctor at the time took advantage of me being a naive 21 year old who wouldn't question a doctor's opinion. I wasn't diagnosed with Homocystinuria at that time, so my levels were likely in the 200's like they were when I was diagnosed at age 25. With the levels being that high, and being in my second trimester-it's very likely there was a blood clot that developed. However-like our maternal fetal medicine and fertility doctors, my genetic doctor believes Riley died because she had Down Syndrome or Trisomy 13 due to my translocated chromosome. He also believes my Homocystinuria has NOTHING to do with any of my three miscarriages, and he believes it would have NO IMPACT on me being able to carry a baby to full term, especially since my levels have been so well controlled within the past year. In fact-he said I am the IDEAL patient with Homocystinuria to be ABLE to carry a baby full term if we were able to just get pregnant with a genetically "normal" baby.

We discussed the history of this translocated chromosome in my family. I explained that I am the only one who has had problems with recurrent loss, besides my mother and father (dad has a translocated chromosome) who did lose three babies but also have 4 living children. My genetic doctor said every 1/800 babies are born with Down Syndrome each year, but 50% of babies conceived who have Down Syndrome are miscarried or stillborn. I just nodded my head in understanding.

We discussed my sister's offer to donate her eggs. My doctor offered to meet with my sister for a free genetic counseling consult to discuss her need to be tested for the translocated chromosome before we proceeded with this option, and he offered to order the chromosome testing in a way that her insurance would cover it and in a way that it would be cheaper on us (testing 5 cells instead of the usual 20). He asked me "if she is a carrier would you and your husband try again on your own since you know you can get pregnant?" I instantly started crying at this question, because truth be told-I am just terrified of creating another baby who I will become bonded to the moment I see the words "pregnant" on a pregnancy test and who could very well die. I'm scared to put myself through that again, and I don't think it is fair to our baby to create him or her if he or she isn't going to have a chance at life. And at the same time-there is the voice in the back of my head that says "of course we would try again."

I left my doctor's appointment in Columbus and drove to Dayton to go to work, crying the majority of the way there. I feel no better about myself after my appointment with my doctor than I did before my appointment with him. I continue to ask myself-"why me?" "Why were my babies the 50% that die?" "Why weren't my babies the 50% to live?" "Why haven't other family members with the same dang translocation suffered what I have?" "What the hell is wrong with ME?" In my doctor's eyes-its just bad luck. In my own eyes it feels like my body has failed me time and time again, and there is a constant fear that no matter what we try it will continue to fail me.

Thursday I will have my phone consult with the Reproductive Immunologist in New York I've talked about before. I am hoping he will be willing to do some different testing on me which will either give us answers or peace of mind. On Wednesday next week my sister will meet with my genetic doctor and get her chromosome screening done to see if it's even an option for her to donate her eggs.

For right now-these lyrics play over and over in my head.

I can take so much

'Til I've had enough

'Cause I'm only human

And I bleed when I fall down

I'm only human

And I crash and I break down