A Fragile X Christmas!

This is a transcript of Kari’s presentation given at the December 9, 2023, Fragile X Christmas party in Waverly, Iowa.

Here is our family. Fisher, my husband, and I have three kids. Nellie, who is 5 ½, and 2 ½-year-old twins, Maklin our little boy, and Ellory our other daughter. We live here in Waverly. I am blessed to stay home with our kids. Fisher is the creative arts pastor at Crosspoint Church as well as the director of the School of Arts at Crosspoint.

Nellie is our daughter who is affected by Fragile X. I am a carrier of Fragile X, which means all of my kids had a chance of having the full mutation or being a carrier. For the first couple of years, Nellie was meeting all milestones to not bring any concern to us. Around two, we noticed she was not starting to talk as most kids her age were. We started speech therapy through AEA [Iowa’s Area Education Agencies] and had her evaluated. Other than a speech delay, they saw no concerns developmentally. At 2 ½ she graduated from speech through AEA and started taking off with her speech.

After we learned some more facts about Fragile X during my pregnancy with our twins, we decided that it was necessary to have Nellie tested for Fragile X. Both Fisher and I knew in our hearts what the results would be before the test but needed the confirmation to move forward. Nellie was our first child so slight developmental differences that we may have caught much younger with a second or third child were not noticed with our first having nothing to compare it to.

Five days before our twins Maklin and Ellory were born we got the call with Nellie’s test results. Nellie had the full mutation of Fragile X. We had done the testing through genetics at the University of Iowa. They shared the news with us and told us the next step would be to schedule an appointment with the Center for Development and Disability at the University of Iowa. We did not realize it at the time, but it is a Fragile X clinic, meaning the doctors and staff there are knowledgeable about Fragile X and have seen other patients with it before. We scheduled an appointment but all appointments were scheduled months in advance.

Our first appointment was with a speech pathologist. We went down in June of 2021 for our first appointment. The speech pathologist was extremely knowledgeable and experienced in her field. She did an evaluation with Nellie for her appointment. While down there, she gave us many recommendations for what to work on with Nellie and also recommended starting private speech therapy back at home.

We were referred to Taylor Therapy and started speech therapy with Ms. Cassidy in June of 2021. Nellie was mainly working on expressive speech, specifically being able to answer questions and identify items. Throughout the summer she made huge strides in her speech. In the fall, we had a follow-up with the speech pathologist in Iowa City. She also referred us for an OT [occupational therapy] evaluation, which we did on that trip.

After the appointment, we were referred to OT privately and started with Ms. Lynda in the fall of 2021. The recommendations that Iowa City gave us regarding therapy made such a difference in giving Nellie the help and support she needed. As she continued in therapy, she grew so much.

The therapists worked with her once a week alongside daily work at home that they could recommend and support us with. In the fall we were finally able to see a pediatric physician who was familiar with Fragile X as well. She was able to see Nellie and share information to help us raise Nellie. She told us many things we had not known before, including muscle tone and tendencies of those affected by Fragile X.

We continue to go down yearly to have Nellie reevaluated and continue to gain information to keep supporting her as she grows. They are an excellent support and resource for us because of their familiarity with Fragile X and having many patients who are affected by it.

Taylor Therapy has been a huge support and blessing to our family since June of 2021. We have seen every pediatric therapist in some way at this point. Most regularly for Nellie, she has seen Ms. Cassidy for speech, which she graduated out of, along with feeding therapy that she is currently in. She sees Ms. Lynda for OT and has seen Ms. Kristen for PT which she also graduated from.

Throughout her therapies, she has developed sweet relationships with all of her therapists that we are so grateful for. We have been able to grow her gross motor, fine motor, and speech skills far past the doctors’ expectations because of their work with her.

She continues to amaze us with how quickly she has picked up on skills and grown in areas such as cutting that we thought wasn’t going to come two years ago. We appreciate the resources and support they’ve given us to help work on her skills at home. She has gotten used to having “school” time with me throughout these years daily.

We work on her therapy homework during that time alongside intervention work with the school. She hasn’t had to do as much now that she’s in school every day but we have built-in time most days to work on those skills. It has been a sweet time each day to slowly see these skills that we’ve been working on.

Nellie was able to start preschool a few months after her diagnosis. She has attended St. Paul since 3 years old preschool. In her first year, we were able to set up her IEP and advocate for additional support to be put in place for her. As former educators, we both knew how important it was to get this started right away. She has had goals adjusted and added as needed for school.

Throughout her 4-year-old preschool year, her teacher helped her grow tremendously and gave her exceptional support. Mrs. Bienemann was able to work on skills with Nellie each day and helped her grow in her math and social skills as well as skills focused on attending to the classroom instructions.

Mrs. Bienemann continues to work on skills this year with Nellie one-on-one for interventions, which we are so grateful for. This year was a special year with Nellie starting kindergarten but also having my mom, her grandma, as her teacher. It is a blessing to send my daughter to school every day knowing she’s spending the day with grandma. She has been informed of Nellie’s needs these last few years and was able to step right in to give her the support she needed in the classroom right away.

Nellie has been thriving in school this year and a large part of that is due to the teachers who support her each day. She has started to read words in books and lights up when she knows the words. She walks around at home rhyming too. We have loved seeing her learning be applied at home and how proud she is to share with us the learning taking place.

Nellie is a true blessing to our family. We are so blessed with the sweet, caring girl she is. But we know that we would not have been able to get to this point without the support and love of those around us. Our family, friends, church, community, therapists, and doctors have helped her grow and continue to push her to new limits. She already has and will continue to far exceed all expectations with her academic and social development.

The research the Fragile X Foundation has provided us has helped us tremendously from the beginning of Nellie’s diagnosis. We were able to go to a Fragile X clinic which continued to provide us with the next steps. We are so thankful for all of the support we’ve been able to put in place since the first appointment. The research still has so much more it can do though.