The International Council on Infertility Information Dissemination, Inc

NIAW 2016, Julie's Story: Fragile X Syndrome

Hello, My name is Julie Thomas and my husband is Steve. We went through Embryo Donation or ED to get our daughter. Here is our story:

We meet in High school (awe, I know), and eventually married in 2007 after 6.5 years of dating! We always knew we would have to go through IVF to have children. I carry a genetic disorder called Fragile X syndrome, which causes developmental delays, is passed on the X chromosome. I knew I was a carrier since around age 10. I have 2 brothers that are affected by fragile X and a sister that is not a carrier nor has it. I was told I had a 50%pass rate to our future children and I also had over 1,000 repeats of the gene CGC. That is a huge number!

With that said, we went through IVF in 2013. We had to use a special process to test our embryos for fragile X called PGD or Preimplantation genetic diagnosis. After our 11 embryos that were biopsied and sent off to the lab for the pgd testing they all stopped growing. We are not sure why, no one could give us an explanation. So, after a few months off, we jumped back on the horse, so to speak to plan B. My sister graciously offered to be our egg donor, but that was just going to be more expensive than we thought, on to plan C embryo donation program through our clinic.

Embryo Donation is when a couple that has gone through IVF and has embryos leftover, instead of destroying them, they donate them. Most ED programs through clinics are anonymous, so we will never know our daughters donors. We had to go through a process to get approved to go through the program, this took a few months. After about 6 months on the waitlist we received the call we had been waiting for, we were at the top! We received 4 profiles to choose from with varying amount of embryos. Both me and my husband knew what set we wanted after each of us had read my daughters donors profile. She was 1 of a set of 3, 2 grade A, 1 grade B. We started our cycle and transferred in July 2014. Our daughter was the only embryo to make it to blast stage to transfer and she snuggled in for 9 months!

Now for most of my pregnancy everything was normal, morning sickness, growing pains. Then around 22 weeks we had our anatomy scan and found out something was wrong. We saw a fetal medicine specialist that told us the baby was 3 weeks behind in development behind me! They said she was a IUGR baby or inneruterine growth restriction, which means her cord only had 2 vessels not 3. We then started weekly monitoring and Ultrasounds. She just kept chugging along, slow but sure. By 38 weeks, our doctors said we needed to get her out due to the placenta stopping to provide for her, so I was induced. She was a rock star through the whole process, which took 3 LONG days! She finally arrived and was 3lbs 15.1oz 16 inches long, with a full set of lungs I may add! She was in the NICU for about a week and a half before she came home. They just needed to get her bigger. Fast forward a year and she is now 1 and over 16lbs! She is right on track development wise, still working on those darn growth charts, but she is growing at her own pace.

I hope after reading this it gives you hope if you are still in the trenches of starting a family. If you are a donor, who has given your embryos a chance at life, thank you from the bottom of my heart. I will never know her donors, but I thank them everyday for our daughter, Lucy. If you have any questions please feel free to ask, we are very open about our journey and hope to give others hope.



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