Myiles-age 4
Diagnosis-Merosin Deficient Congenital Muscular Dystrophy
USA

Myiles is 4 year’s old, he was born on September 7th 2012

5lbs 13ounces he was beautiful.

Myiles-Merosin Deficient Congenital Muscular DystrophyWhen he was 15 months old he was diagnosed with Merosin Deficient Congenital Muscular Dystrophy est: 100 patients have been diagnosed in the U.S AND 1,000 patients have been diagnosed in the U.K.
 He had a rough start from birth, he had water in his lungs, he was not breathing on his own, he spent 13 day’s In the nic-u but during that time I watched him fight for his life. I use to wake up every morning take the older kids to school, drive 20 miles to the hospital to see him, stay with him until the kids got out of school, took my daughter to dance, son to MMA, go home make dinner, by that time my husband would get home I would then run back to the hospital and spend another 2-3 hours with him before they had to escort me out almost every single night, cry all the way home, around 12 I would always wake up and call the hospital to make sure he has eaten and is not crying we really had the best nic-u nurses, go back to sleep wake up around 3am call them again. And do it all over the next day.
Myiles-Merosin Deficient Congenital Muscular Dystrophy
 Myiles has always been a little different when it came to his physical ability compared to other children his age and even younger than him. He’s never had the chance to crawl, stand or walk, but that has always been okay with us we pick him up and run for him, or jump with him so he gets a sense of what it feels like. He loves sport’s so we have learned to play them in a way he can be involved too, we knew something was different when he was around 4 months but we had no idea it could be so far out of our hand’s.
Myiles-Merosin Deficient Congenital Muscular Dystrophy
 Myiles is your average little boy, you would never know he has a disease inside of him.
Back to the day of his diagnosis, we were seen at Primary’s Children’s Hospital  we saw a neurologist and he told us it looked like he had a form of Muscular Dystrophy but could not diagnose him with out being tested, he called over a muscle specialist who just happened to be in the clinic that day, he came in after a period of time and did a quick exam of Myiles. He tested his reflexes and nothing happened, there was no reflex, and when we asked why he said we needed to do do further testing. He said it seems if he has a form if Muscular Dystrophy, we need to figure out what type, and a muscle biopsy would be the best way to get an accurate diagnosis. We agreed to do the biopsy and we scheduled a biopsy for a few weeks out, and when the surgery was over he came out and told us he did great, everything went fine! Perfect, that’s what we all want to hear right? But then it happened he said, ” I did notice the muscle was very pale almost like a pencil eraser, it had no Merosin or very little.
Myiles-Merosin Deficient Congenital Muscular Dystrophy
So forward to the day we get our confirmation, we have an apt at Primary’s Children’s hospital Neuroscience Department (MDA CLINIC) in SLC, we get there we are nervous, sick to our stomachs, neither of us had slept in day’s, a little scared and confused. The specialist walks in with a smug look on his face as If we actually cared that he was right!?!
Myiles
Before the biopsy happened, he seemed like he was just beyond thrilled with him self and showed little compassion and did not empathize at all. He sat down and had a stack of papers, he folded his hands on his lap and said ” Myiles biopsy results came back showing that he was Merosin Deficient, meaning his muscles are not producing this protein.” My husband asked him what could we do, how do we get him this protein. And unfortunately we didn’t get the response we wanted. He said he has Merosin Deficient Congenital Muscular Dystrophy, he started to explain the symptoms right away we asked him would he ever be able to walk? He again sat there with this smug look and said “NO, most patients will need a power wheelchair by the age of 2, most patients are unable to sit unassisted, so they don’t achieve all the milestones that a child who does not have this will.” He said it so casual like it was okay, and we were supposed to accept it, and not give much effort into changing. Of course we did not accept that in fact my son started to bum scoot when he was 18 months old and to this day he still gets around at home that way even though he has a manual wheelchair and power wheelchair, he likes to STAY strong, he recently has learned to ride a bike at physical therapy (of course it is adapted) he can now push the pedal 11 time’s on his own! So um, take that Mr. Know it all! Myiles has proved you wrong! And just goes to show you should chose your words carefully! Never underestimate anyone, he can do hard thing’s!
Myiles-Merosin Deficient Congenital Muscular Dystrophy
Aware of Angels
Merosin Deficient Congenital Muscular Dystrophy is very rare, you actually have a higher chance of getting struck by lighting than to have a child born with this specific type of CMD. Each parent has to have a copy of the gene which is why it’s so rare, we the parents harvest this horrible genetic mutation never affected but pass it on to our children.
We have one mission only and that is to spread as much AWARENESS as possible!
It is not as known DMD it’s not getting the attention and the awareness that it needs.
Myiles-Merosin Deficient Congenital Muscular DystrophyMyiles loves sports and wants to run after his older brother and sister, it is hard to watch sometimes you can see that his mind is moving a thousand times faster than his body will let him and it’s heartbreaking to watch. And to be honest before his diagnosis I had no idea it was even possible for a 16 month old child to be in a wheelchair and be able to maneuver it better than an adult.
Here is a littler more about Merosin Deficient Congenital Muscular Dystrophy:
It is a sever form characterized by the absence of Laminin 2 chain (Merosin) around the muscle fibers, elevated CK (creatine kinase) especially in the early months of life, no independent ambulation due to muscle weakness ( leads to scar tissue) and contractures, respiratory insufficiency, and also could end up needing a tracheotomy and feeding tube. Most patients have normal intelligence but some have been reported to have moderate mental retardation and epilepsy.
Merosin normally anchors muscle cells to a structure that encases them ( like the skin on a hot dog) it’s called the basal lamina.
Laminin: it’s a high molecular weight protein of the extracelluar matrix. They are a major component of the basal lamina, a protein network foundation for most cells and organs.
The laminins are an important and biologically active part of the basal lamina helping with cell differation,migration, and adhesion.
To date no treatment is available but the conditions of life are improved with physiotherapy to reduce contractures and arthrodesis to limit deformation. Ventilatory system and tracheotomy, when nessecary have contributed to a marked increase of life expectancy for the most severely affected.
Laminin is vital for the maintenance and survival of tissues. Defective laminins can cause muscle to form improperly leading to a form of MD.
They don’t know exactly what causes CMD muscles to weaken earlier than other types of MD. One possibility is that the muscle protein affected in CMD are required earlier in infant muscles while proteins linked to other forms of MD don’t become important until the muscles begin to ge a lot of use as the child grows.
Myiles-Merosin Deficient Congenital Muscular Dystrophy

About the author

Gina

Gina began working tirelessly as an advocate for the rare and undiagnosed diseases community several years ago after her and her family moved to Utah. She is the Co-founder and Executive Director of the Rare and Undiagnosed Network (RUN), Chair of Utah Rare, and Utah Ambassador for National Organization on Rare Diseases (NORD).

Gina is currently undiagnosed and the mother of three children with an undiagnosed genetic dysfunction. She is advocating for clinical whole genome sequencing covered by insurance companies and hopes to help rare and undiagnosed families emotionally and financially.

Leave a Comment