Support my family through an unexpected medical journey.

(1/24) Updates: It has now been 24 hours since the amniocentesis procedure was performed. Thankfully it seems that all has went well as I have had no adverse reactions aside from the expected cramping after my appointment.

During the ultrasound baby seems perfectly healthy aside from her abdomen measuring small. She is in 4th percentile and anything under 10th is considered fetal growth restriction. I will be going back for monitoring of my umbilical cord to ensure baby is getting nutrients she needs and blood does not stop flowing to her, as this can result in still birth

unfortunately we came home to busted water pipes and I burnt out pump from it being so frozen while we were in Chapel Hill. So no working water until we get that fixed but frankly that is the least of my worries and I am thankful to be back home for now.

If you have a second to take and read this post, please do

Almost two weeks ago I got a phone call that flipped my world upside down. On January 9th I went into the OBGYN for genetics testing for the baby. If you’ve ever been pregnant you know that this is a test offered to you and it is as simple as drawing a few tubes of blood from mom. On the 13th, I got a call from the doctor that those results detected a possible chromosomal abnormality.

From that point, I waited for what felt like the longest 4 days of my life. My brain in constant overdrive. Every thought possible running through my head. On January 17th I met with a genetics counselor to further discuss what these results could mean, and what my options were.

Monsomy X or Turner’s syndrome is an abnormality that affects the female sex chromosomes. A typical female carries XX chromosomes while a male carries XY. With Turner’s syndrome, one of those X chromosomes is either fully absent or only present in some cells, while missing in others. This significantly affects the reproductive system. Babies born with this syndrome may have delayed menstrual cycles, puberty, and overall growth. Unfortunately, women with Turner’s syndrome are almost always infertile. There is also an increased risk for several health problems such as structural abnormalities of kidneys, heart problems, liver problems thyroid issues, bone structure, hearing loss and physical characteristics like webbed fingers/toes or neck.

About 99% of pregnancies where Turner’s syndrome is present will result in miscarriages. There is a 1-3% chance of a child with this syndrome making it to full term.

The type of Turner’s syndrome detected in my test is called mosaic Turner’s syndrome. Mosaic turners means that the second X chromosome was missing in some, but not all of the cells tested. This could mean 3 things:

1. The test was read only from my placenta, and baby is not actually affected (false positive result)

2. I have undiagnosed Turner’s syndrome and never knew it and test was reading my blood

3. Worst case scenario: Baby does have this abnormality.

I immediately took another blood test that can detect if I have this syndrome, and the results for that test should be back within the next 2 weeks. The next step for genetics testing is an amniocentesis test. This is a test where a needle is inserted through the abdomen and into the uterus to draw fluid from the baby’s amniotic sac. This is the only way to further test for chromosomal abnormalities in pregnancies, and the only test that can tell us for certain. Unfortunately, I was 24 weeks when I found out this information and my time frame was narrow. Ideally these tests are done between 15-20 weeks and almost never past 25 weeks. Due to the risks of at this point in pregnancy, Novant health was not able to perform the procedure in Wilmington. On Tuesday morning (Jan 21) I got a call from UNC chapel Hill, who agreed to do the procedure if we acted quickly.

So while everyone was watching the snow fall last night, my family and I were driving 2 hours away on dangerous roads to a hotel in Chapel Hill. Thankfully we arrived last night around 9pm safe and sound. Tomorrow morning (Jan 23rd) I will be at the Chapel Hill Women’s Hospital for an in depth ultrasound and the amniocentesis test. Within 2 weeks we will have the results and hopefully relief, or we will have a lot of hard decisions to make in the upcoming weeks.

This is a feeling I wouldn’t wish on my worst enemy. As a mother, you never want to hear something could be wrong with your baby…and as a woman, hearing that your child may have to suffer with infertility hurts so deeply. I am so overwhelmed with the what ifs. Will my baby even make it to term? Am I prepared to bring a child into this world that may face so many health obstacles. Can I handle all of this?So to put it simply I am scared. I’m worried for the future, worried about how this will affect my family, worried my baby won’t make it or will have to suffer if she does. Just all the uncertainties that this test has brought onto us. But I am also hopeful that everything will work out for the best and I know that we will be okay no matter what.

Aside from the mental turmoil that this has caused us, it has also affected us tremendously financially. We are a single income household and Reggie has had to take numerous days off for doctors appointments and, honestly just to hold my hand through all of this as my anxiety is clearly at an all time high. We have had to fix our personal vehicle as well as register it just to make this trip which was money we had not been prepared to spend. Between hotel and gas expenses, meals, and everything else we are in a tough spot financially right now. We are trying to raise whatever money we can to be able to make ends meet for the next few weeks. Even more importantly, we ask for prayers, best wishes, and good vibes while we navigate this difficult journey.