Today is Fragile X Awareness Day. Across North America, more than 60 landmarks are lighting up teal as part of the #TealTakeover to show their support for Fragile X individuals and families and all the doctors, researchers and organizations that support these individuals and families.
5 years ago, I was pregnant with our oldest, Carter. At our 12 week appointment we did a blood test that would check for possible chromosonal abonormalities such as Downs, Trisomy, etc. This test also would tell us the gender of our baby. When we did the test, we didn’t really think about anything other than the gender results. A couple weeks went by and when the office called they said everything was normal, but that I actually showed as a carrier for Fragile X Syndrome. This was something we had never heard of and the doctor also didn’t have much to tell me other than they wanted me to meet with a genetic counselor.
They asked if we wanted to have the baby tested through amniocentisis and our response was a clear, “Absolutely not!”
- We did not want to risk anything with our pregnancy. Both baby and I were healthy and while risks are minimal, it was not necessary
- The reason it was not necessary is that even if our baby had Fragile X that would not change anything. We would still have that baby, love that baby and do whatever we needed to ensure that baby thrived.
Long story short, Carter was born in March 2016, with no complications and honestly a pretty easy birth. At 2 months, we did have him tested for Fragile X and his results came back negative.
Now, Dan and I knew we wanted 2 children and wanted them pretty close in age, so fast forward to March 2017, we announced we were expecting another little one. Of course the odds of having a child with Fragile X were on our minds, but again, we still didn’t stress about it.
**I want to warn that below I share details of Jackson’s delivery below. Nothing too graphic, but just warning you here**
On October 19th, 2017, I was 37 weeks and 3 days along with Jackson. I made a call to my OB/Gyn’s Emergency Line at 11:59 p.m., because I was experiencing horrible cramping and then started bleeding. Now, I could tell I got the on-call doctor out of bed, which I can understand, but she did not seem to take my issues seriously. At the end of a yawn, she told me, “sounds like early labor symptoms, don’t worry.” Hopefully today, that same dr instructs patients to go to Labor and Delivery to be checked. Anyway, I had my next check-up appointment the following morning at 10:30. I called my doctor as soon as they opened and she too said she thought it might be early labor, but obviously keep my appointment and we will get things checked out. Well, I could not wait for my appointment at 10:30. I was actually already in the car on the way to her office. When I got there, they pulled me into a room and I waited to be seen.
While sitting in the exam room, I started to feel light headed and dizzy, so I walked out the door to look for my doctor or anyone to help and I passed out. When I came to, I was sitting in one of their office chairs and they were rushing to get a wheelchair for me. I was rushed over to Labor and Delivery to find out I had a Placental Abruption. The bleeding I was having the night before, was due to the placenta detaching. Jackson was losing blood, nutrients and oxygen and I was bleeding internally.
At 11:23 a.m. on October 20th, Jackson was born via an Emergency C-section. This guys life was already off to a rough start. He spent 2 days in the Specialty Care Unit and as he got better, I actually got worse. Suprisingly, we both left the hospital the same day, which dr’s were surprised happened. This could have been fatal for both of us. Statistically, Jackson is 1 of 19 deliveries to have happened that year due to a Placental Abruption. In our mind’s, he is an absolute rockstar.
Fast-forward to Jackson’s 18 month checkup. He was missing a lot of the “normal” milestones or at the very least showing delays in hitting them, such as sitting up unassisted, babbling, crawling, walking, etc. He was basically delayed in all of those things. We mentioned that to his pediatrician and also mentioned Fragile X just to remind him I am a carrier. His response, “Look at him, he looks great. He is fine.” So, based on that we didn’t think about Fragile X again until the summer. Hindsight being what it is, I would love to talk to that dr to educate him that the physical characteristics associated with Fragile X are not a given. Some kids have them and some don’t. Some of the traits don’t show until they are older, so that was a bold statement to make that he looked fine, especially when I mentioned I was a carrier. That summer, we took Jackson to be evaluated for Autism as he had a few signs and we thought it couldn’t hurt. They evaluated him and he was not placed on the spectrum. Then, the dr said something that made my heart skip a beat, “Let’s do genetic testing.” I couldn’t stop myself from blurting out, “I am a Fragile X Carrier and I have 78 repeats!” Her jaw dropped and said she would bet her career on it that Jackson has Fragile X Syndrome. We took home a cheek swab kit, got his sample the next day and sent it out to be tested.
Obviously, you know the rest or we wouldn’t be here. To sum up everything on this day that we bring awareness to Fragile X…Jackson is absolutely one of the sweetest kids I have ever encountered. He is not a burden to us, but truly completes our family. We are lucky enough to have such a great support system that advocates for Jackson just like we do. He will never fight alone.
In the beginning, hearing the diagnosis confirmed was hard emotionally. I will never forget that phone call. However, as time has gone on and we have learned things, researched things, met with experts, etc. we are in a great place with Our Fragile Xperience and I hope we can continue to share our journey with you, share facts about this syndrome and in turn you can be advocates for kids like Jackson too!
XOXO
Our Fragile Xperience 