For Rae To Play ☀️

My name is Raechel, I was born with congenital muscular dystrophy (CMD) - LAMA2. 
On the website https://www.curecmd.org/lama2-merosin-deficient  it says “Those with complete merosin deficiency will have early onset of the disorder (present at birth) with hypotonia (decreased muscle tone or floppiness), progressive joint contractures, and will develop breathing and feeding problems early in life.  Scoliosis and rigid spine can develop.  Some will have cardiac abnormalities.” It is also quiet likely that I will not be able to walk.


To learn more about CMD please click on the link above or 
https://ghr.nlm.nih.gov/condition/lama2-related-muscular-dystrophy#diagnosis


To learn more about my story, please continue reading.


When Raechel was born (10 Dec 2018) she seemed to be such a easy second child. She would sit or lay so contently as she watched Cooper run around the house. She never seemed to fuss about anything. After a few months went by we noticed that she seemed weaker than most babies her age and as she missed some important milestones we decided we needed to see what was going on. We went to our family doctor when Raechel was 4 months old and from there we were referred over to a Paediatric doctor. Based on our report of Raechel’s development the doctor requested we get some tests done: brain MRI, blood work and urine samples. The brain MRI came back perfectly normal, as did the urine samples but in the blood work they found high CK (Creatine Kinase). CK is an enzyme that is found in the blood upon muscle break down. It can be found in adults after a workout or after alcohol consumption. In babies, it is abnormal to find it high after a certain age. This prompted a second blood sample to confirm the high CK as well as the need to speak with a neurologist at CHEO (Children’s Hospital of Eastern Ontario). The doctors we met with at CHEO had some suspicions as to what they thought Raechel might have but it required further testing. So more blood work and urine samples were needed. We were told the results could take up to 3 months. And so began the longest 3 months of our lives.


During those 3 months Raechel was coughing lots, so much that she’d wake up in the middle of the night for 2 hour coughing fits. We decided a chest x-ray was needed. The results of the x-ray showed aspiration pneumonia, which means that when Raechel would drink from a bottle or from the breast some of the fluid was trickling into her lungs. The day of the results we were admitted into the hospital and Raechel was put on an NG feeding tube with orders that she wasn’t allowed to swallow liquids. During our hospital admission Raechel also had an ECG just to confirm her heart was good, and it was. Yay. After 6 days in the hospital Raechel had a swallowing assessment done under video x-ray where they watched her swallow different consistencies of formula. They concluded that she was safe to swallow small amounts of thickened formula. Thickened formula meant harder to suck, harder to suck meant very tiring for Raechel, so she never took very much during these days. After about a week of NG feeds and thickened formula we noticed an increase in her coughing again so she was taken off liquids again by the doctor. Weeks had gone by and still no diagnosis but we continued to meet with her team to help progress along. Feeding Raechel on the NG tube wasn’t always easy; she’d throw up massive amounts of formula multiple times a day. So much had to be factored - the correct amount of calories, number of feeds, total volume, feed flow rate, positioning. Eventually after much trial and error and working with her dietician it seemed we had found something that worked for her! Her team currently consists of an occupation therapist, physiotherapist, two paediatric doctors, a home nurse and a dietician. This will grow with the results of the blood tests.


On July 25th Rae had a meeting with a surgeon at CHEO to discus getting a G tube put in which was to replace her NG tube. Feeding will be done much the same but instead of a tube in her nose, it’s a button directly into her stomach. Our next step was waiting for the phone call to pack up and go. Shortly after our consultation, surgery was scheduled and it went off without a hitch. She was awake with strong vitals 2 hours after the start of her surgery and always smiling. What a big brave girl! Now to back track, on August 16th we got a call that we had an appointment in 4 days to discuss some of the results from Raechel’s tests.


On August 20th at 10:00am the doctor at CHEO told us that Raechel was born with Congenital Muscular Dystrophy (CMD) - LAMA2. This is a disease that causes her to have progressive muscle loss resulting in muscle weakness. There is a deletion in her genes that interferes with her ability to produce and form protein which help form healthy muscles.  Raechel will likely never be able to walk, she may develop scoliosis (curvature of the spine), and contractures (fussed joints in an unnatural position), and she’ll likely develop sever respiratory difficulties. It’s crazy to think that our beautiful little girl may never be able to run with her brother Cooper in the backyard or bike down the street with him. It breaks my hearts that she will have so many limitations. As a parent you always want your children to be healthy, that’s the number one thing. We’d do anything to take on this disease for her and be wheelchair bound the rest of our lives, if only we could give her the ability to run for the rest of hers. But since we can’t fight it for her, we want to support her in any way we can. 


We want her to experience life just like an other child. This disease may limit her but we don’t want to let our finances add to that. Living with CMD will require many larger items to accommodate her needs; an accessible vehicle, an accessible home, wheelchairs, adaptive devices, supportive equipment and I’m sure many other small things that we haven’t even begun to think about yet. Please help us in raising money for Raechel so that she can live a her best life! 

To donate please find the donate button below.

To follow Raechel’s struggles and successes you can follow her on Instagram at raechelrae_cmd