To learn more visit our website at: https://www.usmef2cfoundation.org

We are working closely with two scientists

Dr. Chris Cowan on gene therapy

ASO Therapy -This RNA based approach is used to limit the ability of cell machinery to reduce MEF2C levels. ASOs (antisense-oligonucleotides) are RNA molecules that inhibit protein synthesis. They can be used to target any gene by selecting the correct nucleotide sequence in the target RNA.

AAV Therapy - AAV research has been able to demonstrate that a plasmid MEF2C DNA can be produced, packaged into an AAV and successfully delivered to the right cells in the brain of mice where MEF2C expression is required.

Dr. Stuart Lipton on drug development

MEF2C Activator Therapy - The goal of this research is to identify a compound that over stimulates the expression of MEF2C from the one functioning good copy of the gene.

Targeting MCHS symptoms - NitroSynapsin has already been created and is in the pre-IND phase. We are working towards bringing this drug to clinical trial as soon as possible at Boston Children’s Hospital.

Our MEFTIES and their stories,

Meet Teegan

Teegan is 2 years old. She was diagnosed with MEF2C when she was 18 months through genetic testing. Teegan was very little when we noticed she wasn’t tracking or following anyone, and that is what started our assumption that something was not right. She had many different tests done before her genetic diagnosis was discovered. She started many different therapies when she was around 9 months and those have helped her so much! Teegan is the happiest kid ever and is always smiling! She goes with the flow getting brought to all her sisters’ sports and activities. Teegan is always a fan favorite! We are staying positive and believing that there will be a treatment for Teegan to allow her to do many things that her sisters can do! Currently, her goals through the various therapies are to start crawling, eventually walking, and learn how to communicate her needs.

Meet Myra

Our daughter Myra is now 6 years old but when you talk to her you will realize she acts like a 3 year old toddler and talks like 1 year old baby. She is a happy girl and proud of the smallest of the things she achieves in the day. She was diagnosed with a MEF2C variant when she was around 2 years old. It was very difficult to hear that she will need help all her life and be dependent on others for most of her needs. She had her eye surgery for strabismus at 18 months and struggled with digestion, chewing, walking and sleeping untill she was 3. We have always tried to give Myra a similar life as her sibling and tried our best to make her feel happy and cared for. I think Myra has hidden potential and with help she will be able to overcome many challenges and hopefully she will lead her own life one day. We have started to believe that there will be a medical miracle in the near future and it will help Myra immensely.

Meet Demi

When Demi was 6 months old, she stopped meeting developmental milestones and began to have tonic clonic seizures. With intensive physical and occupational therapy Demi began to sit up at 10 months and learned to walk without a gait trainer just before 3 years old. She is learning to use an Augmentative and Alternative Communication (AAC) device to communicate her wants and needs, wears Supramalleolar Orthoses (SMO) braces for foot and ankle support and is not toilet trained. She learned to drink through a straw this year and is working on self-feeding. Demi is 8 years old, non-verbal, has epilepsy, hypotonia, strabismus, autism, and intellectual disability. She is a very happy, easygoing girl that can be a bit “cheeky” when she wants to be. Demi relies on assistance for all of her daily living skills and will never live independently without a successful treatment or cure.

Meet Liam

The first few years of Liam’s life were filled with concern. He was born with jaundice, had to wear a hip brace for over 2 months 24/7 and needed two surgeries related to cryptorchidism. At first we attributed his profound motor delays to the hip brace, but when he was unable to maintain a grasp at 9 months we knew something was wrong. Liam has hypotonia in his trunk and hypertonia in his extremities. He was not able to sit up until 12 months, to crawl until 2 years, to walk short stretches at 3.5 years, and he is gradually learning to pay attention to his surroundings, without engaging in constant self stimulating behaviors. Liam uses Prologue to Go on his iPad to communicate and he has learned two words - ‘more’ and ‘bye bye.’ All of the developmental milestones that others take for granted have been painfully difficult for Liam. He has visual and language processing issues, but he is a happy boy with a contagious laugh and spreads joy wherever he is. Liam works so hard with the hand he’s been dealt and his therapists and teachers love working with him. He is a sweet sweet boy and always available for a kiss or a hug, especially when he wants to avoid a difficult task. Liam requires 1-1 assistance with all daily living and self help skills, and likely always will, unless we are able to find treatments and a cure.

Meet Natalia

Natalia is 8 years old. When Natalia came home from the hospital we thought she was a healthy baby. When Natalia was 6 months old she had her first seizure. This seizure was the beginning of our journey in the healthcare system. We noticed her eyes crossed, and were told that once her eyes were fixed her development should catch up. Her development did increase after the surgery, however it has never caught up with the expected milestones. Eventually, a genetic screening was complete, and we found out she had a deletion at 5q 14.3. This deletion would make it so she would never likely walk, talk or read. Natalia can now walk independently. She always needs someone with her, as she does not understand safety issues. She is non-verbal, but uses an i-pad with a special program to communicate some of her basic needs. She is working on toilet training, and with frequent visits to the bathroom she has had limited success. She loves toys that light up and music. She gives the best hugs. We have met with researchers on both sides of the US, and are very hopeful for the therapies they are working on. We understand time is not Natalia’s side. We hope a medication will be available before she is too old to see a benefit.

Help us to find treatments for patients with MCHS caused by mutations on the MEF2C gene.

MCHS is Myocyte Enhancer Factor 2 Haploinsufficiency Syndrome. MCHS is a rare disease which causes profound disabilities; please help us to improve quality of life. Donations go directly to gene therapy investigations conducted by Cowan team at MUSC.