MEF2C: Our World, Our Stories
In September 2018 our Rosie was brought into the world, after a bit of a worrying 3rd trimester she was born via C section healthy and no concerns. As a newborn baby there were a few concerns regarding Rosie, she would have episodes where she stopped breathing/hold her breath and we were in and out of doctors and hospitals trying to get to the bottom of it. It was eventually put down to reflux although a bad case but we now think may have been some form of epileptic seizure. I think from the age of 4 months I knew something wasn’t quite right, Rosie wouldn’t follow anything with her eyes or pay attention to voices it was like she was looking straight through you, she wouldn’t interact with any form of toy or attempt to use her hands. I was back and fourth to the doctors with my concerns and at first was told she’s just a late developer. At around 11/12 months old we finally got referred to a paediatrician who started looking into things more in depth. Rosie still wasn’t even sitting independently by this point and still wouldn’t engage with anything. We had things such as cerebral palsy mentioned, potential that Rosie could be blind. When her eyes we found that definitely wasn’t the case and Rosie could see perfectly normal. Then covid happened and we felt we were back to square one understandably the NHS was massively under stress and pressure we were having to isolate and routine appointments were cancelled, after about a year we got our first appointment with the paediatrician and this is when they mentioned a potential genetic disorder and would be testing Rosie for one. It took around 3/4 months to come back and in April 2021 we finally had an answer Rosie had a partial deletion in the MEF2c gene and her 5th chromosome (5Q14:3.) I think the relief that we finally had an answer was the most overwhelming feeling I’ve felt, for 2 and half years nearly I had been searching for answers, possibilities of what could be up with my baby girl and it was heartbreaking. In the next 2 and half years that have followed Rosie has come on amazing and as a family we are hugely proud of everything she achieves every single day because she finally has the help that she needed to strive. Rosie has regular physio appointments and although she cannot walk independently yet she can walk in her walking gram and is now able to stand by herself when resting against something aswell as pull herself up to standing when holding on to something. She use’s crawling as her main form of getting about independently inside and a wheelchair when we are out and about. Rosies completely none verbal but has the most infectious/amazing laugh you’ve ever heard that everyone who hears it can’t but help laugh along. We are hoping that in the future shortly we could potentially find of way to be able to communicate with Rosie not necessarily verbally but just any form that helps us understand what she wants or what is the matter. Overall Rosie is our absolute star, she’s opened our eyes to worlds we never knew existed, she’s the happiest, most determined, loving and slightly Mose impatient little girl I’ve ever known and I am and will forever be proud to be her mum. The prospect of there been a potential treatment to us was only a dream but now with the foundation and the funding been raised into the research it is becoming a reality. Thank you for taking the time to read our story Charlotte and Rosie x
This is Rosie
5 years old, UK
This is Richmond
6 years old, USA
“Richmond has a deletion of the MEF2C gene. We know very little about it as it is extremely rare. We don't know what to expect. The good news is he will write his own book." Well, what a book it is so far! If we wrote a chapter a year, we'd have five chapters. Chapter 1 is the scariest: full of apneic episodes bringing him close to death, followed by open cavity surgery to repair his congenitally "smushed" airway, followed by intensive therapy to recover from the milestones lost to reduced oxygen and surgery recovery. Chapter 2 reveals the diagnosis: "your son is not just behind because of surgery and insufficient oxygen. Severe global developmental delay, epilepsy and a swallowing disorder are part of his life. They are not temporary obstacles to overcome. They are life. Accept, prepare and persevere." That year, he was hospitalized so many times with simple cold viruses that the nurses already had his favorite toys waiting for him in his hospital crib upon admission. Chapters 3 thru 5 are full of ups and downs. Richmond has been challenged by debilitating seizures, inability to safely chew and swallow resulting in gtube dependency, inability to walk, inability to regulate his body temperature leading to sudden overheating, and lack of speech which prevents him from establishing the bonds with others that he so desperately desires. He is the most extroverted non-verbal child you will ever meet! His five years of life have been full of variables (steps forward and steps back; multiple surgeries and sedated scopes; dependence on expensive compounded drugs, gtube dependence, many missed experiences in weather hotter than 75 degrees Farenheit...). 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.
Hi, My Name Is Maia Isabella, in 22 03 2017 I came into the world as a healthy baby weighing 2,700kg and 47 cm. Around the age of 5 months my parents noticed that they do not follow them with their eyes and do not stretch their hands to Toys. At 11 months of not being able to stand still I received the first diagnosis of big underdevelopment problems. At the age of 15 months while I was in hospital for several checks I was discovered CMV in my urine. This virus gives development problems and many other nasty reactions. Following a CT MRT doctors noted a very high demineralization, the head organs being developed in the middle of age, somewhere 7-8 months,microcephaly.An EEG was also performed resulting in focal epilepsy being controlled with Leviteracetam. During the same period when I was in the hospital following an anesthesia to extract spinal fluid I also had the first epileptic seizure that manifested itself in the trembling of the hand and right leg. In the meantime I started to look cross-eyed so the specialist made me the diagnosis of strabismus received therapy with eye patches. Time passed, but my muscle tone did not develop in normal parameters. Rumpfhypotonie s added to the list of diagnoses. For the fun to be complete around the age of 2 and a half, the real problems with sleep also appeared. This meant that I woke up crying 15-20 times a night, often staying up for hours without falling asleep. I tried various medications to solve this problem but unfortunately for my parents nothing worked. Melatonin having the reverse effect shaking me harder. The rescue came with starting kindergarten at the age of 3 my sleep improved overnight and my parents could sleep a little over the day unless they were called by the teacher to come after me because I can't calm down. At the age of 4.6 years I received the diagnosis of the genetic mutation on the MEF2C gene. the doctors were very restrained telling us that there are only 5 cases in the world with such a genetic defect and there is no treatment, they themselves do not know what can be done next and how I will progress. Now I am already 6 years old. While kids my age are anxious to make new friends in the first year of school, I still can't go unsustainable or occupy my time playing with kids my age. Instead I am a very cheerful child to whom he likes to listen to music, Music for children, Scorpions and Mozard being among the most listened to. I get a lot of therapeutic support to learn to walk and use my hands that are very sensitive to touch. I am very well integrated socially in a group of children of the same age who love me and try to capture my attention to play with me. I am a desired and very loved child in the family and society in which I live, always having a smiling face and senina.In there are currently around 300 people with a defect or mutation of the MEF2C gene. in the next three years there may be a treatment that could help me lead a life closer to normal. But for this to be needed we need as many people as possible to help us achieve the goal through distribution or donations. Thank you to all those who have supported us so far in all ways and those who will support us further.
This is Maia
6 years old, Germany
“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.”
This is Elijah
4 years old, UK
“Reaching for the stars…….. Our little man Hamish works so hard at this every day and will for the rest of his life, as will we to support him and give him his best life. Hamish was born with a rare genetic variation called MEF2C. We love our little man dearly and have so much hope for his future. He is currently 5 years old nonverbal and non-mobile, two achievements we have set out sights on. Hamish is loved dearly by his two little sisters, Hamish has attend more than 10 intensive therapy blocks at NAPA, 9 weeks a year since he turned 2 he has come so far and has the ability to go so much further”
This is Hamish
6 years old, Australia
“Daniel was born on the 27th of February, and he is about to become 9 years old. Since he was born, I knew that something was “off” because he would not give us any eye contact and he had severe hypotonia. However, it was not until he was 4 months old that we got a neurology referral. After performing many medical tests finally, we got given the diagnosis: MEF2C haploinsufficiency, a deletion in chromosome 5q14.3.
He is visually impaired, and he is not able to sit independently in a reliable manner. At the moment his epilepsy is under control. He adores music, especially piano and guitar and he is very cuddly, he loves being hugged. Our days look pretty much like those of others with this condition…a lot of physiotherapy, speech and language therapy, swimming and sensory stimulation”
This is Daniel
9 years old, Spain
