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 Rett Syndrome. Some girls can walk and some cannot; and then some have better use of their hands than others, but most are nonverbal and have lost the ability to use their hands.
Rett Syndrome comes with a whole host of symptoms – breathing issues, seizures, apraxia, hand wringing, feeding issues, a potential heart disorder, and really just the body of these kids not working the way they want it to. We have been lucky and Jiselle does not have the heart disorder nor do we see seizures yet. Due to her low muscle tone, we do have some complications with eating and gaining weight, but right now she is thriving even with some of the other symptoms of Rett Syndrome. Regardless on how well she is doing, Jiselle will always be at risk for all of the above due to her diagnosis.
The one thing that I am grateful for with Rett Syndrome is the fact that those diagnosed are cognitive. Jiselle takes in and knows everything that is going on around her and what is being said to her. She just cannot communicate the way that you or I do. So, she has an eye gaze device, which is an iPad like device that sits on a stand at eye level and tracks her eye movements. This device has communication software on it, which is her language. Ultimately, she will use her eyes to communicate by selecting the buttons she wants to say. She also has a yes/no board and if you ask her a yes/no question she will look at the answer with her eyes. We have also trained her to look at us for yes and to look away for no if we do not have any of the above available to us. After two years, lots of therapy and consults with Rett University, Jiselle is finally starting to make intentional choices on her device and is so much more responsive to the yes/questions. Jiselle finally has a voice. Due to the above and an amazing staff at school who has done everything they can to learn about Rett Syndrome and how best to teach Jiselle, she is rocking 1st grade. She is able to keep up with what her peers are doing and she actually LOVES school and being social.
As I reflect on this journey, the years between 10 months and 3.5 years were marked by lots of tears, stress and not understanding what was going on. I kept wondering why is this happening to Jiselle and our family and where did we go wrong. As I reflected through all of this a few years later, I was definitely going through a grieving process. I was grieving for my daughter and our family and the loss of what we would eventually never have. It was a hard start to parenting, but one day I decided that I can either sit and wallow in the path that has been laid out before us or I can choose to say this is my journey and make the best of it, whatever that meant. So, I chose joy and positivity over all else because in reality, life is way too short to sit and wallow over our situation.
In February of 2019, we took our experience in special needs parenting and turned it in to a way to help other special needs families. My husband, Bailey, and I started a foundation in our daughter’s name, The Jiselle Lauren Foundation, back in February of 2019. This all started with an idea to have a golf tournament and raise funds for other special needs families. We realized how lucky we were through our jobs and insurance to cover most of what Jiselle needs. However, there are those who are not even as close to being so lucky. So, the idea morphed into a full foundation, where we raise money throughout the year to grant back to special needs kiddos, their families and the organizations that support them so these kiddos can live their lives to their fullest potential. As we close out year three, we threw our 3rd Annual Scramble for Smiles Golf Tournament, started an annual Fundraising dinner and are wrapping up our second annual grant process. It has been a crazy experience but one we are grateful for. Our hopes are to continue to grow and give back as much as we can and leave a legacy for Jiselle and our other two kids. It is hard being a special needs parent regardless of the diagnosis and it is something we 100% understand. We hope we can create a community where families can come together and share their experiences or find a place for fellowship in the future through the foundation. If we were not on the journey we are with Jiselle, we would have never been able to not only start, but also run a foundation, and give back to other families.
Life definitely does not look like we expected it when we became pregnant with Jiselle nor do we know exactly what the future holds. We may never be empty nesters or be able to do some of the things that we always wanted to do because of Jiselle, but I do not know if I would go back and change the journey. Would I wish this on someone else, absolutely not because let’s be real . . . it can be so sucky some days, but it also has changed our perspective in life and allowed me to grow as an individual more than any other experience in my life. Things that mattered 10 years ago to our growth and success as individuals and a family, just don’t anymore. It made me appreciate watching Jiselle’s siblings, Jenevieve and Beau, hit milestones that others take for granted. For example, I will never forget people telling me that they were not excited for the walking phase of life but I couldn’t wait because I knew exactly how it felt to watch your child never do that and the emotions that came with it. I tried to soak in every aspect of it all with our younger littles because we knew we would never get to experience anything typical with Jiselle. We also get to watch Jenevieve and Beau grow as special needs siblings. They have a gift to see no difference in others because of Jiselle and are so kind, caring and compassionate to everyone. Jenevieve never wants to hurt someone’s feelings or have them be excluded. It makes me want to cry some days, because it is so thoughtful and sweet. Today, our world needs some more Jenevieves. Beau is only 2, but the other night he was playing ball with Jiselle in her bed, lifting her hand to put it on the ball so it could be passed to him. Never would I have thought that a 2-year-old could be so perceptive to his sister and yet just play with her the way she can play without frustration or question. Again, I almost cried at the sight because it was so heartwarming and Jiselle was smiling so big. My littles would have never had an outlook (I like to call it a gift) like this if Jiselle wasn’t Jiselle.
The past seven years of my parenting journey did not go as expected but as I reflect on journey through write this, I am thankful for the journey even with the hard parts. I have grown so much as a human and special needs has shaped our family in a way I would have never expected. Things like traveling are always going to be a challenge but we have decided that a diagnosis is not something that is going to hold us back or leave us fearful of doing something we want to in life. Life is a journey and we will continue to walk down the path as best we can, advocating for our children and making it as joyous, positive and rememberable as we can all while trying to help other families.
You can learn more about Jill and the Jiselle Lauren Foundation at www.thejisellelaurenfoundation.org and on Instagram @thejisellelaurenfoundation or @Pratt_PartyOf5