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A Story of a Rare Genetic Mutation: An Exceptional Boy and Resources for Families

Introduction I would like to share my story about my two-year-old son, Levi, and our family’s journey with his diagnosis of a rare genetic disorder, Wiedemann-Steiner Syndrome (WSS). At the time of his diagnosis, less than 1,000 people worldwide had been diagnosed with this extremely rare de-novo genetic mutation that can cause hypotonia (low muscle tone), cognitive delays, speech delays, feeding issues, seizures, chiari malformation, spinal issues, behavior issues and more.

BY Kelly Medellin, Ph.D | January 2022 | Category: EP Guide

A Story of a Rare Genetic Mutation: An Exceptional Boy and Resources for Families

Daily life is not always easy and can come with many challenges, but early intervention with Early Childhood Intervention (ECI), a statewide program within the Texas Health and Human Services Commission under the federal Individuals with Disabilities Education Act (IDEA), has made a huge difference in Levi’s life. Through ECI, he receives speech and feeding therapy, occupational therapy, and specialized skills training (SST), and can now walk on his own and eat table foods. Although there is not much information about the disorder, we are extremely fortunate to have a worldwide parent support group that mainly connects through social media, but has been a critical and invaluable resource for our family.

This is of course a devastating diagnosis for any family, but we truly believe that our son Levi is a blessing and is meant to be in our family. His dad, big brothers and I will continue to be his biggest advocates, cheering section, and support system. We will continue to always have high expectations for him and provide him with the best possible life, filled with happiness and joy. 

The Beginning

My husband and I are high school sweethearts who have been married for over 15 years and have always wanted a large family. Our first two pregnancies were wonderful experiences and we welcomed two amazing boys into the world who are kind, smart and funny, and truly remarkable human beings. After our middle son was about 18 months old (who at the time was our second born), we began trying to get pregnant again to expand our family. In 2018, after two early miscarriages, we were thrilled when we found out we were expecting our miracle rainbow baby. In June of 2019 our family was blessed with our third beautiful baby boy, Levi.

Typical pregnancy, ultrasounds, and genetic testing lead us to believe this new addition to our family would be no different than his older brothers, but life had other plans. When Levi was born, I immediately noticed his almond-shaped eyes and wide nasal bridge but was assured he was okay and just had smaller, deep-set eyes like his dad. Levi was doing well as an infant but always struggled to gain weight and stayed on the low end of the growth curve (which was red flag number two). As he grew, I noticed more issues like difficulty holding his head up, difficulty pushing up on his arms, placing weight on his legs, and he was not able to move to larger size bottle nipples or eat pureed foods. With a Ph.D. in Early Childhood Studies and having had experiences with two older children who are neurotypically developing, I knew Levi was not meeting certain developmental milestones with physical, cognitive, and feeding development. After I advocated for support and answers, Levi was diagnosed with a rare genetic disorder called Wiedemann-Steiner Syndrome (WSS). 

The Road to Diagnosis

As mentioned above, I had concerns about Levi from the day he was born, but we took him home where he was breastfeeding okay and having wet and dirty diapers. There were not too many concerns at first. Then, from about his fourth month of age, I began asking our pediatrician if she thought something else may be going on with Levi because he was not hitting developmental milestones like holding his head up, pulling his head up during tummy time, and his eyes seemed to be crossing. She recommended we wait and watch as some children take longer to develop these skills.

Between his sixth to seventh months, I began voicing my concerns again to our pediatrician, Levi was now on a mix of formula and breastmilk, having difficulties swallowing and choking when we tried to move up bottle nipple sizes. He gagged on any type of baby purees (even homemade and stage 1 foods that are watered down). He gagged on puffed cereal bits and yogurt melts, and he was beginning to have issues with constipation. He also was unable to roll over or rock back and forth on his hands and knees. Again, our pediatrician gave us some suggestions to try with the food and bottles and constipation, and we decided to give him more time to meet developmental milestones in his own time.

At his nine-month check-up, when he was still unable to eat purees, could not sit up on his own, still had trouble holding up his head, and his eyes seemed more crossed, our doctor and I agreed it was time to seek outside evaluations for Levi. She referred us to a neurologist, a geneticist, a pediatric ophthalmologist, and a feeding therapist. 

Early Intervention

At nine months, Levi was evaluated by a local feeding therapist at a private therapy center, and the therapy was going to cost more than what we could afford at the time. A very kind therapist at that center let us know about Early Childhood Intervention (ECI), provided by the state within the Texas Health and Human Services Commission under the federal Individuals with Disabilities Education Act (IDEA) to help promote the development and growth of children age 0-3 with developmental disabilities and other intellectual and physical disabilities. It has a Family Cost Share model where families are charged a monthly rate based on income and family size, not the amount of therapy or therapists. Little did we know then, but the ECI program would be a God-send to Levi and our family.

When ECI completes their initial evaluation of a child, they not only check for the issues parents and doctors are concerned about, but they evaluate a child's development in all areas and offer whatever services a child may need based on the results. In our initial evaluation with ECI, we found out that Levi had hypotonia (which later on would be the key to his diagnosis) and had significant physical, speech, feeding, and cognitive delays (they also check for social and emotional developmental delays). We created goals for Levi as a team for his Individual Family Service Plan (IFSP) and were set up with a speech and feeding therapist, an occupational therapist, and an early intervention specialist once a week for each therapy on alternating days. We began therapy at 10 months and started therapy via Zoom because of the pandemic, but as restrictions eased, the therapists came to our home for the therapies and now they feel like part of our family.

Speech and feeding therapy mainly focused on feeding in the beginning, as this was the more pressing issue at the time. The therapist constantly would come up with new ideas and exercises we could try to strengthen his muscles to practice chewing, biting, and swallowing. And although it took a lot of work and time and did not move at the pace we wanted, Levi moved to eating pureed vegetables, to pureed meats, to being able to eat puffs and yogurt melts, to Cheetos, and now most table foods. Now our new goals are mainly focused on speech milestones.

Our occupational therapist (OT) is more knowledgeable and valuable than words can express. When we started with our OT at 10 months, Levi could not sit up on his own or crawl and now, he doesn’t walk, he runs everywhere and climbs on everything in the house. Because of the low tone, much of our therapy focused on developing strength in Levi’s core and his balance. The therapist would come up with easy games and activities we could practice at home through the week to build his strength. Our OT also helped us when Levi started to have issues with biting and grabbing and exhibiting negative behaviors. She explained that Levi was having some sensory processing issues and exhibiting sensory-seeking behaviors. Our OT explained by using an analogy of a glass of water—she said for internal sensory processing, some kids have their glass just right and have no issues processing various sensory components, while some kids have their glass overflowing and are very sensitive to various sensory inputs like certain lights, sounds, and textures. And some kids, like our son Levi, their glass is only half full, and so they are constantly trying to meet their needs by seeking sensory input, so we have worked with her to make goals and a plan to help him.

Lastly, our early intervention specialist (EIS) works with Levi on what is called specialized skills training, or SST, which is a developmental service that teaches age-appropriate life skills to children enrolled in an early childhood intervention (ECI) program. With our EIS, we mainly focus on cognitive and behavioral issues. Currently, we are working on puzzles, attention span, and redirecting disruptive behaviors. Our therapists will only work with Levi for a few more months as he will turn three soon and we will then work to transition to the local school district. But I will forever be grateful for our therapists and early intervention team for the incredible start to life they have given to my son. 

Pleased to Meet You:  Wiedemann-Steiner Syndrome Upcoming Events 

Rare Disease Day 2022

www.rarediseaseday.org

February 28, 2022 is Rare Disease Day. Rare is Many. Rare is Strong. Rare is Proud. WSS is one of 6,000 rare diseases recognized on Rare Disease Day, which is scheduled for the last day in February each year. The WSS Foundation is sharing our community’s stories during the week leading up to Feb. 28. Visit our Life with WSS blog to read about these warriors. 

Wiedemann-Steiner Syndrome Awareness Day

www.wssfoundation.org

September 15th, 2022 is International WSS Awareness Day. This day is set aside to help promote awareness in the public and professional communities. Many individuals choose to create online fundraisers, bake sales, make phone calls, wear their WSS t-shirts and participate in many other methods of fundraisers on this special day. To learn about creative ways you can raise funds on WSS Awareness day, please contact the WSS foundation board of directors. 

WSS Foundation Kids Triathlon

www.facebook.com/WSSFoundationKidsTri

6th Annual WSS Foundation Kids Triathlon, Summer 2022. Details coming soon. 

International Family Conference

www.wssfoundation.org/events

Wiedemann-Steiner Syndrome Foundation International Family Conference, October 2022. The 2022 International WSS Conference will be in Baltimore, MD, in October. Dates are still being finalized. WSS community families and medical professionals from around the world converge to learn and share their knowledge and experiences. The multi-day event features family activities, updates on medical research, the latest therapy techniques and expert presentations to help those diagnosed with WSS to reach their full potential. 

Diagnosis

I have to begin by sharing that I am aware that our journey to a diagnosis was shorter and less egregious than the years that many families spend searching for answers, and we were extremely fortunate to receive a diagnosis when Levi was 23 months old. After getting a referral to a neurologist and a geneticist from our pediatrician, we made appointments as soon as possible and we were able to get in to see the neurologist first. He suggested that because of the hypotonia, we start with an MRI to rule out any neurological disorders that could be causing the low tone.

Because our appointment with the geneticist was a few months away, the neurologist would go ahead and order the first round of genetic testing for us to be completed. The MRI did not find anything that could be causing Levi’s developmental delays or low tone, so we moved to the genetic testing. We did two rounds of bloodwork, one for a Fragile X test and one for a Chromosome Multiarray test that tested for multiple chromosomal genetic disorders, and both came back negative. I was not discouraged after the results, but I did feel overwhelmed by feelings of being frightened of the unknown and late-night googling of symptoms coming to the worst conclusions and feelings of insecurity and anxiety, thinking, “Is this all in my head? Am I making a big deal out of nothing? Is he just developing at his own rate?”

Nevertheless, we decided to press forward and meet with the geneticist. He was very blunt in his initial evaluation of Levi. He agreed with the hypotonia diagnosis and the almond-shaped eyes and he also said he had a droopy face (which I was not pleased with in the moment, but I know he just taking note of anything visible that could help with his diagnosis). In speaking with him, I mentioned that it was difficult doing the bloodwork and I did not want to poke and prod my son forever. He then made the greatest suggestion to have Levi complete a hypotonia panel of testing that was just a cheek swab. This was an answered prayer for me because my baby would not have to have needles poked in him this round. I was ecstatic!

It took five months for the results to return, but our geneticist called us in May of 2021 and gave us the results of the panel: Levi has a genetic mutation on the KMT2A gene and was diagnosed with a rare genetic disorder called Wiedemann-Steiner Syndrome.

Parent Support Group

The main source where I have found information about the syndrome and have found support is through the Wiedemann-Steiner Syndrome (WSS) Parent Support Group on Facebook. This is a private group for parents and guardians only (there is a separate page for the foundation and one for extended family members and friends). This resource has been an incredible one for information, venting, ideas, help, and support from families all across the globe. I have learned about specific testing that would be beneficial to check for issues related to the syndrome. I have been able to give and seek comfort from other parents and give insight to my experiences to help and support others. There is a conference as well where families can get together, learn from experts, and our children can get to know others who are like them. 

Conclusion

No one starts out planning a family thinking they will have a child with special needs, but our son is so unique and brings so much joy to everyone with whom he comes into contact. We will always do our best to advocate and fight for him. He works so hard to meet all his milestones and never gives up, and we are so proud to be his parents.

We do not know what challenges Levi may face as he grows older and starts school, but all we can do is take it one day at a time, love him for who he is, and do everything we possibly can to make sure he has every opportunity to live his best life!  

Further Review: WSS Resources 

Wiedemann-Steiner Syndrome (WSS) Foundation

www.wssfoundation.org/wiedemann-steiner-syndrome

National Organization for Rare Disorders (NORD)

https://rarediseases.org/gard-rare-disease/wiedemann-steiner-syndrome

Understanding Sensory Processing Issues

www.understood.org/articles/en/understanding-sensory-processing-issues

Wiedemann-Steiner Foundation Facebook Page

www.facebook.com/wssfoundation

Wiedemann-Steiner YouTube

www.youtube.com/channel/UCwlYcTsEsMs3skZfOjsJGRA

 Wiedemann-Steiner Parent Support Facebook

www.facebook.com/groups/667174239987278

Wiedemann-Steiner Family and Friends

www.facebook.com/groups/339084866256825

Early Childhood Intervention

www.hhs.texas.gov/services/disability/early-childhood-intervention-services 

ABOUT THE AUTHOR:

Kelly Medellin resides in Texas. She is a wife and mother of three incredible boys, the youngest of whom has a rare genetic disorder called Wiedemann-Steiner Syndrome. She has a Ph.D. in Curriculum and Instruction with an emphasis in Early Childhood Studies from the University of North Texas. Currently, Dr. Medellin is the program coordinator for the Early Childhood-3rd Grade Teacher Certification Program and the Early Childhood Studies and Care Program at her university. 

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