MED13L

After nine long years this September, we learned of Adeline's MED13L diagnosis.

In 2013, Adeline was born at home, a full-term pregancy; she greeted us with curious and wide, kind eyes. Over the coming months, she grew on her own chart--slow and steady, tiny and fierce. She would learn to crawl after twelve months, and begin to walk after two years, not without some injuries from imbalance. Having not produced more language than "mama, dada, milk, hot," we learned some sign language as she began early intervention services.

Soon after we would experience seizure episodes and receive a diganosis for complex partial seizure disorder. Because of hypotonia, global growth delays, and seizure activity, we were simply told she had Cerebral Palsy and were referred to a host of specialists to understand, investigate and treat her various symptoms. We visited two neurologists, an endocrinologist, two geneticists, an ophthalmologist, two ENTs, a developmental pediatrician, and two orthopedists. Her experience? She would wear AFO braces at night for years with SMO braces or slip in orthotics during the day. At age six, she had ear tubes inserted, which she confirmed from her bed the same evening "mama, I hear better," a long sentence structure for her! Over the years, Addie has endured many unsuccessful blood draws, MRIs and routine EEGs. Her treatment has included countless PT, OT, and Speech sessions.

Finally, after years and layers of visits, insurance policy changes, blood panels and second opinions, it was medical genetics specialist Dr. Hajianpour of Albany Medical Center that would have a name for our daughter's experience.

Adeline has, thankfully, received incredible support since infancy. She continues to work hard through her severe speech delay with use of a speech device, improving incontinence, and the care of compassionate teachers and providers.

In true first-born style, she enjoys being the leader wherever she goes—it’s hard to miss her powerful stride. She is inseparable from her younger sister, Tenley, adores her husky Cora, and remembers her Labrador Brody and hamster Frankie fondly. She exudes sunshine to all who love her, which is no surprise as her favorite color is yellow, the single color she can consistently identify and always chooses.

While Adeline's trajectory and potential is unclear, we are grateful for the work of the MED13L Foundation to provide a community for our families, conduct and share research, and work toward a cure for our sweet Adeline and all children affected by this rare genetic mutation.

Inspired by Hope and Driven by Love

This past April, Mike and Katie received the news no parent wants to hear. Their 15-month-old, Collin, was diagnosed with a genetic disease so rare there’s not even a name for it. The doctor simply called it MED13L, for the type of gene mutation. The doctor explained children with MED13L have intellectual disabilities, severe language delays, seizures, heart defects and low muscle tone. There have been less than 1,000 cases reported. Currently, there are no treatments or cures.

As Collin smiled up at his parents, Mike and Katie made the decision to CHOOSE HOPE. Since this decision, Mike and Katie have taken a crash court in genetics, spent countless hours emailing and zooming with doctors and scientists involved in MED13L research, fundraised, traveled to Baltimore and New York to participate in research studies and joined the MED13L Foundation Board of Trustees. The Foundation has tapped into the new technologies that offer up hope for transforming the lives of MED13L children. Costs are staggering and there is no readily available government or industry funding. Our focus is to find a treatment and cure for MED13L but we envision our research helping all children with rare genetic disorders.

We ask today to CHOOSE HOPE for Collin with us!

We always knew that Emma was special. We just didn't know that she was this special.

Emma came into the world with a bang. She's the only girl and the youngest. With 4 older brothers, her parents prayed for a baby girl. April of 2017, she was born five weeks early. After spending 2 weeks in the NICU, she came home and was utterly loved.

Things weren't easy for Emma. She lacked muscle tone, which made movement hard for her. She was late to crawl, walk, and even stopped sucking on sippy cups or straws for almost a year and a half. Her parents were concerned, but she always managed to figure things out.

February of 2022, after test after test, we received the news. Emma was born with a rare genetic disorder called MED13L syndrome. It is a recently discovered genetic disorder and there is only a few hundred known cases in the world. Every person is born with 2 MED13L genes. 1 from mom and 1 from dad. In those with MED13L syndrome, one of those genes is not working, and therefore, those genes are only producing half the amount of protein that a body needs. Their afflictions are low muscle tone, intellectual disabilities, speech impairment, seizures, and heart defects.

The MED13L foundation is currently working with a team of scientists to find a cure for MED13L syndrome. For now, that looks like a repurposed drug that can help with the missing protein that those with MED13L are afflicted with.

Emma speaks very few words. She's never once said her brother's names or even "I love you" (although she is an extremely affectionate girl and shows her love through kisses and hugs.)

Any and all donations would be greatly appreciated. We want her to have a full and happy life and for future families to have answers and remidies when they receive the life-altering news.

The MED13L Foundation, along with the CURE MED13L research initiatives, announced that May 13th is now officially designated as “World MED13L Day.” We have launched a fundraising campaign to raise $1 million towards developing therapies for the single-gene disorder. The MED13L Foundation has outlined an initial milestone fundraising goal of $10,000 for the month of May, with a target of $250,000 raised by October 1, 2022.

MED13L is a recently identified single-gene disorder that is a leading cause of autism and intellectual disability. Other symptoms of MED13L include seizures, severe impairment of speech, motor developmental delay with poor muscle tone and ataxic-like movement, cardiac abnormalities and increased risk of childhood leukemia.

 

One of the initial goals of the MED13L Foundation was to connect with families around the world to better understand this syndrome. Today, MED13L Moms, Dads, and Caregivers are leading the charge.  We are pursuing the longer-term goal of advanced gene-based therapies.  The work we are doing has the potential to impact other syndromes beyond MED13L.  We are currently collaborating with researchers around the world to help facilitate a variety of research initiatives including:

 

✅ Mouse models. We have identified existing models in academic labs. We also applied to Jackson Labs Center for Precision Medicine for the development of mouse models. They have generously agreed to develop multiple mouse models on a pro bono basis, including humanized mice towards the pursuit of gene therapies.

✅ Dozens of MED13L cell lines, induced pluripotent stem cells (iPSC’s) and neurons.

✅ Diagnosis codes. Leading law firm Hogan Lovells has generously donated its time to help MED13L get an official ICD-10 diagnosis code, with benefits for identifying patient population, educating physicians, and reimbursement.

✅ The development of a patient registry and natural history database in order to facilitate clinical trials, as well as an online Cure-MED13L community forum.

 

In addition, the MED13L Foundation has partnered with Rarebase, a public benefit precision medicine company that leverages cutting-edge technology and biology to discover and develop treatments for the millions of people worldwide living with a rare disease.  The Rarebase Function™ platform combines leading-edge artificial intelligence and high-throughput assay systems to identify existing FDA-approved drugs that may improve MED13L and that could potentially be repurposed for MED13L patients in the near term. For more information about Rarebase, visit www.rarebase.org.

To further establish the connection between MED13L families and the scientific community, we are partnering with Simons Searchlight
and holding a conference in August 2022 in Baltimore, Maryland. 

This one-million-dollar fundraising campaign has kicked off with the generous donation of a $100,000 matching grant by a relative of a MED13L family member.  We are humbly requesting help from around the world to support our efforts and make our goals a reality. Your donation will make a huge difference in the lives of many. Please know that we have outlined a clear path on how your donation will help to advance our research goals and will be meaningfully allocated. 

About CURE MED13L: Cure MED13L is an initiative of the MED13L Foundation, a 501(c)(3) non-profit organization founded in 2017, dedicated to supporting families with MED13L and to finding a cure.  MED13L is a rare disease that was first identified in 2013 and is a leading cause of autism and intellectual disability and includes other symptoms.  For more information, please visit the MED13L Foundation website or the Cure MED13L community forum. CURE MED13L (mn.co)

MED13L Foundation website @ www.med13l.org

CURE MED13L Forum @

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