By Jill Pratt
When you become pregnant with your first child, there are a whole slew of unknowns and fears you experience about pregnancy, birth and being a mama. However, if you are an enneagram 1 like me, you also have this level of perfectionism you deal with. So, I started my pregnancy journey doing everything perfect. However, at 32 weeks I was thrown for a loop. My belly was not growing as it should be and I was immediately sent in for an ultrasound only to learn that my baby was very small compared to the average for her gestational age. I was ultimately told I was at risk for Intrauterine Growth Restriction (IUGR), which basically means my baby stopped growing on track and was measuring under the 10th percentile. After weeks of ultrasounds twice a week and growth scans every other week, I was induced at 38 weeks. On a Monday in September, I gave birth to a healthy baby girl, Jiselle, with a normal labor and delivery weighing 5lbs 9oz. When it was time to go home, we all went and everything including Jiselle was perfect and I was so happy to put the past 6 weeks behind me.
However, as the months passed by and everything seemed to be on track with Jiselle (she was rocking tummy time, eating well and had even started sitting up on her own), we were thrown for another loop around her 10 month checkup. The pediatrician was concerned as her core strength was not where is should be for a 10-month-old – she was not starting to come to sit, was barely putting weight on her legs and repeatedly fell over when placed in a sitting position. However, when you have your first baby you have no clue what is normal or not normal or really what to even expect in developmental milestones so we never questioned anything thus far. Following the doctor’s recommendation, we started physical therapy shortly after thinking that her delay would autocorrect itself with a little extra help. As time went on and things progressed at a snail’s pace and as we watched our friends’ babies hit milestones we haven’t seen yet in Jiselle, both my husband and I started to think something was not exactly right.
We were soon enrolled in OT and Speech, signed up to see a handful of specialists and eventually did a ton of tests including a brain scan at Vanderbilt. While Jiselle was gaining strength, she was still delayed in her gross and fine motor skills, did not talk, started wringing her hands together and we were still left without answers. However, we just went along with the journey in hopes that we would continue to never have a diagnosis so that she would never be labeled and put into a box. I never lost hope for the future or for her and until someone told me she couldn’t do something; we were going to continue to think she would one day get there (and to this day we still think this way).
After lots of conversations with doctors, switching geneticists and multiple appointments, we finally did a genetic test and received a diagnosis of Rett Syndrome right before Jiselle turned 4. You would think that I would be devastated, but I think because I went through the grieving process prior to this and made the choice that this is my journey in life and there is nothing I can do about it but move forward with it and find joy, my attitude was more of ok, this is what it is and let’s start figuring this out. So, we started reading and learning about Rett Syndrome. We signed up for info from the national organizations for Rett Syndrome, started seeing every specialist so we could to get baseline tests completed per our doctor’s recommendation and just started our journey.
For those of you who are unfamiliar with Rett Syndrome, I am going to take a paragraph or two and fill you in. Rett Syndrome is a rare genetic neurological disorder that affects 1 in 10,000. It is a mutation on the X chromosome and due to this it is even more rare in boys. Those diagnosed with Rett Syndrome develop typically until about 6-18 months and then there is regression. The only regression we saw with Jiselle was her loss of hand movement, but this was probably because she never hit some of the other milestones of a typically developing child. To me, there is a spectrum with Ret