Impact

“This is Marshawn. He was diagnosed with MSL3 in March of 2019. We had a long road. Everyone was telling me that I was hurting him and doing something wrong to my baby. Then I got the phone call saying that it was a genetic disorder. I was so happy and sad at the same time. Now everyone can stop blaming me. Even though we still don’t understand a lot about this, not many people do. I’m so thankful that I have answers and for everyone in this group. Marshawn still can’t walk or talk or much of anything, but I have hope that one day my baby will be up and moving. I love you all so much.” — Marshawn’s mother

“This is Isabella, who turns 12 years old this year. She was diagnosed with MSL3 in April this year.

We live in Östersund, Sweden. She has four siblings, two younger and two older. She is alone here in Sweden with this diagnosis. We have been searching for a diagnosis since she was a baby. We are now so happy to find you all so we can learn more together about this rare syndrome.

Isabella can’t talk or walk by herself. She uses a wheelchair and communicates through pictures and with her body and sounds. She has always had big issues with her stomach, and today she has an ileostomy. She has epilepsy and feeding problems. She has got a gastrostomy button on her stomach. Scoliosis also. Those are just some of her problems…

Isabella loves music, toys with sounds, horse therapy-riding, walk-training in the pool, swinging and to be with her family.” — Isabella’s mother

“This is Braxton, he is 4 years old and so full of personality! He was diagnosed with MSL3 in December of 2019. We first noticed issues when Braxton had trouble with latching to breastfeed at birth, and then for months to follow he even had trouble drinking from a bottle. We found out that he was lip and tongue tied so we thought that was the contributing factor to his eating problems, but now that we have his diagnosis, we know that feeding issues are common with this condition.

At 4-5 months old, he wasn’t holding his head up and he still had a “head lag” when we picked him up. From there, he continued to fall behind on his milestones. He didn’t crawl, pull up, talk, or do any big milestones on time (he still doesn’t do these things). Because he also had a large head, his pediatrician was concerned about other things such as hydrocephalus so he had multiple MRIs of his brain, which all came back normal.

Without going into the details of every test he had done, I will say that all of the specialists we were sent to were puzzled, and all of his tests always came back normal. Of course, we were pleased when each test came back normal, but it was also disappointing because while the tests said normal, we knew that something was wrong.

We were referred to genetics in 2019. They first did a chromosomal microarray and a few specific genetic tests, which came back normal. After those came back normal, we opted to do WES (Whole Exome Sequencing) which is much more detailed, and provided a diagnosis for Braxton in December, a few days before turning 3 years old.

We were so relieved to get some answers through this testing and to find out that the mutation was De Novo (random), but we were also shocked to hear how extremely rare it was. Our geneticist really didn’t have any information to give us (other than this was most likely the cause of his delays) because she had never diagnosed anyone with this. They suggested we look for support groups online, and that is when I found this group.

I never imagined finding this much support in a Facebook group, but the MSL3 group has been such a great resource for our family to connect with other affected families. Though we still don’t know what Braxton’s future holds, he has started walking and has made much improvement; and we are hopeful he will be able to talk and communicate with us someday, as well as continue to thrive and be happy! He has brought our family so much joy, and we are proud to call him ours and be able to spread awareness for him and all the others affected by this diagnosis, in hopes for a better future and more resources!” — Braxton’s mom

“This is Madalena. She loves books, dancing, singing and playing outside. Madalena’s challenges were evident from the beginning, starting with feeding and swallowing issues as an infant, then fine and gross motor challenges were noticed when she wasn’t reaching developmental milestones. Every doctor and specialist who met Madalena was puzzled; they all said she’s very unique, and they didn’t have any answers for her challenges. We were very fortunate to be referred to a geneticist, and 3 years later we received Madalena’s diagnosis of MSL3. Madalena has also been diagnosed with autism, as many traits of autism and MSL3 overlap.

Madalena brightens up everyone’s day as she is always so happy. We couldn’t imagine a world without her. She’s our sun.” — Madalena’s family

“Brycen is 9 years old. He has been through multiple tests and a couple of surgeries starting at 12 months old. We have traveled to many specialists around our state of Michigan and have been to Cleveland Clinic for some tests. The answer at every visit was always the same! ‘Brycen is a medical mystery.’ It was always a bittersweet answer. We were happy that nothing major was showing up in tests, but we were also very afraid that nothing was showing up! All of the Doctors and Specialists agreed that ‘something is definitely going on’ and of course that would be followed up by more tests and studies.

Finally, we were referred to a Genetics specialist for WES. The first test showed nothing concerning. One year later the test was done again and that is where they found a mutation in his MSL3 gene. Brycen was then included in a case study in Germany and in February 2021 they released the article including him as 1 of 25 in the world with MSL3 Syndrome. We are happy to finally have a group of families that understand us! And we are so excited to raise awareness to support our amazing group of Kiddos who share this extremely rare disease.” — Brycen’s mom

“This is Harry. Our 4.5-year-old son. He was diagnosed with MSL3 Syndrome a month before his 3rd birthday. Although this condition affects all areas of development, Harry faces all his daily challenges with the biggest smile that lights up a room. We knew from the day he was born that he was unique and that he is. He is currently still the 1st child in Ireland with this condition. He is progressing at a very slow rate, but we are hoping that, with the right support in place and by working closely with our MSL3 community all over the world, we can face MSL3 together and give all our kids the best chance in life they deserve.” — Harry’s family

“This is Meliah. She is 7 years old and was diagnosed with MSL3 in February this year, after a long and hard road trying to find the cause of her issues. We were told it was unlikely that we would find a diagnosis for her, and her symptoms were so unique. So finding this community was amazing! Just being here a few months, I’ve learnt something that we thought came under her epilepsy is actually an attribute of MSL3. I’m looking forward to discovering more with this amazing group of people!” — Meliah’s family

“This is Jack. The most special person we know. His genuine laugh is contagious and his sensitive spirit and gentle persuasion are impossible not to love. From playing with cars, singing and dancing to his favorite bops or goofing around with his sister/best friend, you’ll almost always find Jack with a smile. Even as he recovers from his (2nd) femur fracture, he’s remained positive and strong. This kid never quits.

During pregnancy, the doctor recognized complications, but it wasn’t until Jack was 6 months old that we started visiting specialists to explore what his diagnosis might be. He’d not been meeting milestones, and we’d already begun physical therapy and occupational therapy, along with various tests, including bloodwork, ultrasounds, MRIs and a lumbar puncture. The next year we visited our geneticist in Phoenix and participated in Whole Exome Sequencing. When the results arrived (6 months later!), it showed a deletion on his MSL3 gene. At the time, it meant nothing. There was no connection to a genetic disorder.

Our doctor spent some time researching the gene and found a small study in Europe with other children with the same gene deletion and similar symptoms. We joined the study, and 2 years later the findings were published. MSL3 Syndrome was named and even explained! We were so excited. But quickly realized there was no information out there.

We wanted to learn more and connect with other families. So we turned to social media and started the MSL3 page and support group. Several months later, another family found us. The boys sent videos back and forth saying hi. What a happy day! Since then, we’ve grown slowly, but surely.” — Jack’s mom

“Here is Maéline, 3 and a half years old. We received the MSL3 diagnosis in February 2021. After lots of tests (such as MRI, skeletal X-ray, ultrasound, blood test…) and 1 year of waiting, we had the answer to all our problems! She had motor and language delay, feeding and nourishment problems… In March, she was also diagnosed with autism spectrum disorder.

So happy to have found this community, a comfort of mutual aid for all the questions that we ask ourselves. I am so happy to be part of it. Even though we are in different countries, we are a close-knit, united family! We are a French family.” — Maéline’s mom

*Maéline’s story has been translated to English from its original French language.

This is Dash, he is 9 years old, and we live in Fayetteville, AR (U.S.A). Our guy is pure Joy. He has had an infectious happiness since the day he was born, he is a natural entertainer and loves nothing more than being center stage in any situation. His sweet and kind demeanor and outgoing personality have given us amazing opportunities to advocate and spread awareness for MSL3 Syndrome. Dash is the baby of three siblings, he has an older sister named Bo and an older brother named Zane. He is a mac & cheese connoisseur, loves watching YouTube and playing with our dog, Winston Churchill.

We received Dash’s diagnosis in January 2019 after reanalyzing the Whole Exome Sequencing that was first analyzed in 2014 when he was two. The previous testing had provided no results, but in September 2018 the first study on MSL3 Syndrome was published so when it was reanalyzed- we had a match! We had known since Dash was a baby that there had to be something that tied all his anomalies together and seven years later, the answer had been found. However, our excitement quickly turned into disappointment when we realized there was very little information available. At the time there were just a handful of children in the world with this syndrome and Dash was only the second in the U.S. to be diagnosed, so I did what any other mother would do and started scouring the internet. In May of that year, whilst doing my routine MSL3 Google search, a Facebook Group showed up- the family of the only other child with MSL3 in the U.S. had created a Facebook group and they were patiently waiting for us to find them. A little over two years later and we have connected with more than 30 familiesacross the world.

Dash has been like a puzzle that we have slowly been putting together since he was a baby. Our first major hurdle was when he was just two weeks old, he became very ill with the RSV virus and went into respiratory failure requiring intubation. We did his first brain MRI’s while he was intubated and found that he had ventriculomegaly, or enlarged ventricles, in his brain as well as arachnoid cysts around the base of his brain. Once he recovered, he had feeding difficulties, and continued to have recurring respiratory infections throughout his early childhood. He also had very loose muscle tone, he had trouble lifting his head and had a very large belly, we started physical, speech and occupational therapy when he was six months old which I completely credit for his success with communication and his mobility. We started genetic testing while we were in the hospital with RSV and continued with more in depth testing including Whole Exome Sequencing with no results. Though we had not matched with any known genetic syndromes our care team felt certain that the answer was genetic. We started scanning parts of the body that may have a link to a known syndrome and found that Dash had hydro nephrosis of his left kidney and an aortic root dilation, a heart defect. More questions, no answers. We continued down this path until we decided to reanalyze the WES from 2014 and in January of 2019, I received the phone call from our genetic counselor with his MSL3 diagnosis. This was the BIGGEST piece to the puzzle, but we are still finding more pieces not only to the Dash puzzle, but the MSL3 puzzle as well. Since our diagnosis we have found that Dash has SVT, a type of heart arrhythmia that he had surgery to correct in October 2019. He has also been diagnosed with Von Willebrand’s disease, which is a blood clotting disease that finally explains his years of uncontrollable nose bleeds and Eosinophilic Esophagitis which is a collection of white blood cells in the esophagus and can cause difficulty swallowing. Our biggest hope is that someday in the not-too-distant future, families of newly diagnosed children will have a completed puzzle because of the pieces we have provided and can enjoy the magic of their child instead of worrying about the mystery. As one of my friends said when we finally got our MSL3 diagnosis- we are so happy that we are finally figuring out all the mystery that is Dash, but I don’t think we will ever figure out all the MAGIC that is Dash.