Our Nest.
Over 350 confirmed cases of MCHS exist globally, with the vast majority of these cases involving children under five. Our patients’ MCHS diagnoses vary widely, their symptoms are unique and complex, their personalities bold and endearing, and their journeys as rare as they come.
Meet some of our Rare Birds.
Elijah
4 yrs, UK
Since Elijah was born, we noticed some unusual development traits, such as not wanting to latch on the breast for feeding. But it was really at 8 months old when the turmoil kicked off, the epilepsy made its appearance and we got rushed to hospital to be subjected to an array of tests to try and figure out what was causing his seizures. It wasn’t until Elijah’s first birthday that we got the diagnosis of this extremely rare genetic disorder, caused by full deletion of the MEF2C gene. Since then, life has not been easy, he is almost 3 now. He cannot sit independently; he is non-mobile and has severe developmental delay. His developmental age is about 4 months old. We are working hard with many hours of physiotherapy to help him gain mobility and improve his quality of life and ability to experience more of the world.
Everything takes effort for him, but he takes it all on his stride and he is the happiest little boy we know. His laughter (he will make you work hard for it) fills up the room and hearts of all around him. While he is very happy in his own little world and enjoys the small things like cuddles with mum and dad, and his cartoons, we always have the looming worry of what will happen when we are no longer around. Elijah will always be fully dependent on others for even the simplest things, which would make him vulnerable without the protection of a parent or a loved one. Our hope is that the research progresses to the point where it can help him improve his cognitive development and his mobility to improve his chance of living a future that is as fulfilled and independent as possible.
Safurah
3 yrs, US
When she was 14 months old, Safurah was diagnosed with MEF2C Haploinsufficiency Syndrome (MCHS), a rare disease that our doctors and therapists never heard of before. At 2 months old, Safurah couldn’t control her head, make eye contact, or reach for toys. She didn’t gain head control until 7 months, and even when she began sitting around a year old, we had no security in her ability to not fall over. Safurah’s gross motor challenges are slow to progress, and at two years old she has yet to engage with humans around her. Medically, her disease presents a host of complications that are completely unknown to even the most expert specialists, which results in frequent testing and hospital visits. Safurah’s journey has been difficult, but we are blessed that she is surrounded by a family and support system that deeply loves her.
Richmond
5 yrs, US
Richmond is the most extroverted non-verbal child you will ever meet! His 5 years of life have been full of steps forward and steps back. We learned after 2 years that intensive therapy, a low immune system, severe developmental delays, epilepsy, and a swallowing disorder are not temporary obstacles to overcome but part of his life. His lack of speech prevents him from bonding with others like he so desperately desires. But one thing is constant: he is loved. We treasure every second of his life and feel honored to have front row seats to his slow-motion miracles.
Sophia
4 yrs, Germany
When Sophia was born, everything seemed perfect. We were overjoyed to hold her in our arms. But after just a few weeks, we noticed her eyes couldn’t focus properly, and she was too weak to hold up her head. While other babies were crawling and playing, sitting up and eating was a daily struggle for her. By the time she was 1 1⁄2 years old, she was still only able to eat pureed food. After many tests and examinations, we finally got an answer: MCHS. Since then, Sophia’s days have been filled with therapy. She finally sat up on her own at 10 months old, and we cried tears of relief and pride. At 1 1⁄2 years old, she learned to crawl, and took her first steps at three, it felt like a miracle.
One of her greatest joys is horseback riding therapy. On the back of a horse, she feels free, like she can do anything. These moments give us the strength to keep going, even when each day brings new challenges.
There are still many struggles. she can’t speak, which is frustrating because she can’t tell us when she’s in pain. And many nights, she’ll be awake for hours, and we patiently stay by her side until she finally sleeps.
MCHS means that every small step is a huge victory. We dream of therapies that will help her become more independent one day. Until then, we keep fighting take small steps forward every single day.
A Bird’s Eye View
As of August 2024, there are 380 confirmed cases of MCHS globally.
