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Why I Chose a D&E – Familial Dysautonomia

Why I Chose a D&E – Familial Dysautonomia

The road to my D&E can be summed up in the word – shocking.

My mom had passed away after a 4 month battle of cirrhosis of the liver on Feb 12, 2019.  

I was a few days late for my period and obviously thought it was because of the stress of my moms passing.

I had taken 2 weeks off of work to grieve and on Friday Feb 22 I decided to take a home pregnancy test.

I left it on the bathroom counter and when I returned I was shocked by what I saw.

How could I be pregnant when my mom just died?

We were not planning on getting pregnant at this time. My entire world was upside down and I couldn’t comprehend anything that was happening. I had to now go back to work learning how to grieve and having this secret of being pregnant.

It took about 3 months to even start feeling excited about this pregnancy. This was my second pregnancy and everything was different this time around. I was nauseous, felt terrible, so tired, and just not really “into” it.  

I didn’t take belly pictures, didn’t check the app to see what fruit the baby was measuring against.  

It just wasn’t the time for me to be growing another human when I was having a hard time coping with my grief. However, even feeling that way, I never imagined the nightmare that was to come.  

My family had just moved and I started with a new obgyn.  As I am over 35, genetic counseling was required for the NIPS test. The genetic counselor wanted me to get tested for a full Jewish panel but I declined because I thought my previous obgyn did all that the first time. The records showed only a small amount of Jewish diseases were tested with my son so I obliged to get the full panel.

The results showed I was a carrier for 2 diseases- Familial Dysautonomia and Mediterranean Fever. I had never heard of either.

It was recommended my husband get tested for these and we were told the odds of both of us being carriers for the same disease is rare.  We matched as carriers, however, for Familial Dysautonomia and that meant our daughter had a 25% chance of having this disease.

Even after hearing those odds, I was convinced the baby was healthy- I mean we have a healthy 2 year old and we didn’t even know about this disease with him.  

My husband wanted to be sure, so we scheduled an amniocentesis, which was the only way to confirm 100%.  

The doctor was not able to get the fluid because the baby was so active, and called in her boss to perform the amnio.  

It took about 30 minutes of poking and prodding until it was over. A few days later, I received a phone call from the genetic counselor that the amniotic fluid had blood in it.  

They weren’t sure why but the lab would have to separate the fluid, grow a new culture and then test it, which could take 4-6 weeks for a result.  

I was already 21 weeks pregnant and in NJ, could only terminate without board approval up to 25 weeks. Time was of the essence to get results sooner.  

The decision for a second amniocentesis was made where the fluid would be sent to a different lab in MA who usually gets results quickly, and would cost me $600 out of pocket since he doesn’t take insurance.

Another day at work, and the genetic counselor called with the news the results are in and the baby tested positive for Familial Dysautonomia.  

I will always remember- there was rainbow outside when I took the call.  I feel that has an underlying meaning, but I am still unsure exactly what it is.  

I called my husband, we both left work, went home and cried trying to figure out our next step. I knew my decision was to terminate. He needed to hear from doctors about the disease and in an interesting twist of fate, his sister knew the daughter of the Dr. at NYU who dedicated her career to working with FD.  

We spoke with the Dr. for 45 minutes hearing the debilitating life our daughter would lead, how it would affect our family, and the costs involved in raising someone with FD. The life expectancy was under 20 years and it would be painful for our daughter, in and out of hospitals so often that our family would basically become part of the medical community.

After that, we made the official decision to terminate. We wouldn’t put our daughter through that, nor our family.  I had the option for an induction or D&E (dilation & evacuation).  

My first pregnancy ended in an emergency c-section where I was put under. I knew I couldn’t face laboring my daughter with the end result of not taking her home. I didn’t want to see my lifeless baby, the pain would have been too much to handle.  

Therefore, I opted for a D&E.  I had read a little about what is involved, and yes, it was heart breaking. I had no plans to have a funeral or burial, or keep any remains, and felt being put under for a quick surgery was the better option.  It would help me cope better emotionally.

The Dr. who performed the D&E was kind and supportive and even got footprints for me to take home.  I have no regrets on my decision to terminate and definitely no regrets on choosing a D&E.  

My angel daughter, Grace Noelle, is thought of often.  My mom always wanted a granddaughter, and now they are together in Heaven.

This is an anonymous guest post.

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