The heart of The MFDM Foundation

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Jackson was born in 2019. We found out in the third trimester that he had micrognathia, Pierre Robin Sequence and that led to a scheduled c-section at birth. A few weeks into the NICU stay, genetics testing was done to show the EFTUD2 gene mutation and the MFDM diagnosis. Although he has had some medical complications, surgeries, and global developmental delays, he is a typical toddler and enjoys playing outside and with his 2 sisters and family.- 

Amanda 

Calvin was born in 2013. He had a rough first year with many doctors appointments, surgeries, and hospitalizations. But after his diagnosis of MFDM at the age of 2, things have gotten easier for him. He has a gtube to supplement his oral intake, but for now he is now thriving and loves life! He wants to be a police officer or a country music singer when he grows up! We know that he has great things in store for him! - 

Britt 

Gabby is 14 years old. She was diagnosed with Pierre Robin sequence at a week old. She suffered from absent seizures and grand mal seizures starting at 2 years old. It got so bad we decided to get the genetic test done. It came back as MFDM. She has gone through so much, including surgeries and health problems. She is Developmental delayed and autistic. I have become her advocate, her voice. I will continue to fight, learn and research.
Gabby is a sweet girl that is happy 24/7 and she loves to bake and plans on culinary school.- Renee

Jada is 9 years old; was born in  2015 in Henan, China; adopted in February 2017; and diagnosed with MFDM by Stanford’s Genetics team in April 2017. So far she’s had a cleft palate repair surgery, a surgery to open her left ear canal, and a surgery to implant her bilateral Osia hearing aids. She is mostly nonverbal, good at signing, developmentally delayed, and smiles every time a camera is pointed her way. Jada is an incredibly smart, joyful, affectionate, curious and strong young lady.- Jennifer

Rebecca aka The Sticker Queen or Muttley.

Chronologically aged 23. Cognitively aged approximately months. Diagnosed with MFDM aged 16. Multiple complex needs.

Since having her permanent tracheostomy operation 2018, she has never looked back. Fun loving, cheeky, magnetic, stubborn. Loves animals. Just laughs and lives and makes everyone smile. Her courage wit and enthusiasm for fun are much admired.-Nicola

Anya was born in 2016 in the midwestern US. She is a fraternal twin and the youngest of 5 kids. Nothing remarkable was noticed during ultrasounds - only that she was very active. At birth, an accessory tragus (ear tag) was noted as well as an asymmetrical cry, thought to be caused by a missing depressor muscle. Anya did very well for the first 24 hours, but then became uninterested in feeding and her belly became bloated, landing her in the NICU at 48 hours of age. At 72 hours old she was transferred to a more specialized children's hospital, where she was diagnosed with Hirschsprung's Disease, a congenital bowel condition. Initial genetic testing (micro array) showed nothing atypical. At 2 months of age, Anya's head circumference fell below the WHO growth chart to the 1st percentile, where it has remained. At 3 months, Anya had 1/3 of her colon removed, allowing her to pass stool independently for the first time. She began physical, occupational and speech/feeding therapies at 4 months. At 5 years, whole exome sequencing revealed a novel frameshift mutation of her EFTUD2 gene, resulting in a diagnosis of MFDM. At age 6, Anya had pharyngeal flap surgery to help with her speech development. Despite her surgeries and minor delays, Anya is very mildly affected by her genetic mutation. She is in a regular education classroom and, with some accommodations, is able to perform grade level work. Her bowel condition is well controlled. Her hearing is tested regularly and is normal. She has needed ear tubes (twice), but probably won't need another set. She knows she has a rare syndrome and is happy to talk about it. Anya's twin sister stands up for her if kids pick on her (adorable) asymmetrical smile or the bit of extra time she needs with school work. Anya takes dance classes, loves lions, and has a fantastic imagination.-Anne

Anne was born in 1969 in the midwestern US. She graduated from Gallaudet University in 2001 with a BA degree in Deaf Studies.

In the summer of 2017, she had whole exome sequencing test done; she was diagnosed a little before her 48th birthday in 2017. The Monday before Thanksgiving 2017, She was officially diagnosed! That night, she joined the MFDM family.

Anne likes Genealogy and chasing down ancestors and notable cousins (famous people). She is Interested in DNA/Genetic Genealogy including American Records from International Institute of Genealogical Studies online Continuing Education.

Darcie was born in 2018.  She has has had 15  surgeries for her  Bilateral choanal atresia She was on life support for the first 5 months of her life where they struggled to do the Operations she needed.  She then spent a further 11 weeks in hospital for her neuropathic bowl and bladder and had further surgery on her tonsils and adenoids.  Darcie has a peg for all of her feeds due to an unsafe swallow And a tube in her bladder which we have to drain every 2 hours.  Darcie is suctioned a number of times a day due to choking episodes from secretions  Darcie was diagnosed with MFDM at 3 weeks old.  Darcie had bilateral moderate hearing loss and wears a bone anchored hearing aid. Darcie has a significant learning disability but has managed to speak 10 words and is doing really well at her ‘special’ school  Darcie is a very happy little girl that takes everything in  her stride.