Dear Friends & Family,

Welcome to our fundraiser! In honor of our daughter Maggie's 3rd Birthday, we are raising funds to support the MED13L Foundation. This is a non-profit, parent-led, doctor-partnered group with members all over the world supporting research for the rare genetic abnormality known as MED13L Syndrome. In June 2023, after getting into the Neurodevelopmental Dept with Kennedy Krieger Institute, we completed genetic testing with a full exome sequencing and Maggie was found to have a partial deletion for the MED13L gene which leads to a neurodevelopmental disorder.

The MED13L Foundation depends on funding from donations or investors to provide resources and partner with medical researchers, and continue to raise awareness and understanding of rare genetic disease. We would like to donate funds to the foundation in Maggie's name in honor of her birthday.

We would also like to allocate gifts of funds toward our medical debts related to the last few years of Maggie's treatments, and her need for on-going services through private providers or future medical procedures. Maggie averages 6-8 medical visits per month for therapies and specialists.

At the conclusion of this birthday fundraiser, we will be using the contributions to gift to both the MED13L Foundation as well as to Maggie's Medical Fund, which goes toward costs of her on-going medical needs, as well as toward medical debts incurred.

The Foundation

The MED13L Foundation is partnered with organizations such as Simons Search Light and Rare-X Database, both of which collect data and put forth efforts toward researching rare genetic diseases. There is no 'cure' for this genetic mutation. There are gene therapies that can help improve symptoms/presentations/outcomes by replacing parts of what a gene would normally produce in the body. There are not yet any treatments for MED13L syndrome aside from managing related conditions.

About MED13L Syndrome

MED13L is a neurodevelopmental disorder.

This is considered a rare disease, with less than 100 cases in the medical literature to date. This particular gene has only been studied since 2013. With something so rare and so new, information on understanding how this condition affects someone is limited. Typically, MED13L related syndromes can impact areas of development causing delay of gross motor, fine motor, speech/language development. Many individuals with MED13L gene mutation also present with orthopedic problems, problems with vision, cardiac complications, seizure disorders, intellectual disability, or autism. The condition was given a recognized ICD-10 Diagnostic Code in October 2023 which means that it can be logged, recorded, tracked differently by providers.

About Maggie’s Journey

As you may imagine, this past year since her diagnosis has been one marked by grief, fear and adjustment to our new reality. Maggie has been surrounded by unwavering love, support, and the best resources and interventions that we can give her, beginning at 8 months old. Long before we identified a genetic condition, we began various therapies to support her in the areas of significant developmental delay. She has had an excellent ophthalmologist advocating for her since she was 9 months old. Maggie has strabismus which is an eye muscle disorder and impacted her ability to see for the first 18 months of her life. At age 12 months she got her first pair of glasses. At age 18 months she had her eye muscle correction surgery and it was life changing. Maggie's ability to align her eyes led to an explosion of gains in all skill areas, including becoming more social, exploring her world, feeding herself, and graduating from her walker at age 24 months being able to walk independently for the first time. We are filled with joy, hope, and admiration at Maggie's grounded spirit, content nature, determination, and strength. We are grateful that Maggie has been in good health, without cardiac or neurological complications thus far.

Maggie has had early intervention services beginning at a young age including oral motor therapy, craniosacral therapy, physical therapy, occupational therapy, and speech therapy. She has seen specialists in the areas of neurology, cardiology, ophthalmology, orthopedics, orthotics, developmental specialists, speech & language pathologists, ENT and others. Maggie has been connected with University of Maryland for Developmental Pediatrics and Kennedy Krieger Institute for Neurodevelopment and for Autism and related disorders. She has been seen at Children's National in DC and John's Hopkins.

Maggie has had 4 episodes of anesthesia and 3 surgeries, all before her 3rd birthday.

Through it all, she has been a joyful, happy girl. She loves life, her family, and her friends. She explores her world through play and observation. Maggie has made tremendous gains in her physical abilities. And now we are focused on supporting her to grow in her ability to communicate. Maggie is not yet verbal, and she uses only 4 signs/gestures (yes, no, more, all done) to communicate all of her needs and wants. Even these 4 have only been recently acquired.

Our dream is to hear our child speak one day. Or to enable her access to other methods of communication with representative language so that she can share her thoughts and needs with us. We are supporting her toward this goal with special education preschool and with private speech therapy twice weekly.

Every child with MED13L is different. Maggie will show us how she will be, but we already know who she is. This has had, and will continue to have, a profound impact on our family and our lives moving forward. We feel hopeful for the future, that we can see both of our beautiful daughters continue to grow and to thrive, in their own ways.

We thank each of you for taking the time to read about Maggie’s story. This is the first time we have shared publicly the details of Maggie’s diagnosis and related conditions. We thank our friends and family for their endless well of love and support that we draw from every single day.

With Love,

Jenny & Luke

MED13L Foundation Website: https://med13l.org/

Maggie's Medical Fund: paypal.me/MaggiesMedicalFund