by Erin Reeling
about the author:
Erin Reeling is the mother and step-mother of three girls and two boys. Erin is a carrier of Duchenne Muscular Dystrophy, her brother had Duchenne, her son has Duchenne and one of her daughters is a carrier of Duchenne.
The Missing Puzzle Piece
My Brother, Chad
My brother, Chad, was diagnosed with DMD around 1993 when he was 5 years old. I was only 9 at the time of his diagnosis and my parents didn’t really explain it to me. Back then doctors and scientists didn’t really know much about Duchenne unfortunately.
I remember he walked slowly, fell a lot and he got tired very easily. When he was 12, Chad fell and broke his leg. He ended up in a wheelchair and never walked again after that. When I was growing up, I didn’t fully understand the seriousness of his disease.
Looking back, I think I was just used to having a brother in a wheelchair. The only thing I regret is wishing I had done more research and advocating for him.
Chad passed away on February 6th, 2021 at the age of 32.
My fiancé and I each have 2 children from previous relationships. I have a 14 year old and 10 year old daughter. He has a 7 year old daughter and a 15 year old son.
We had tried to have a child together for quite some time. We had several appointments with a fertility doctor, blood tests, procedures, etc. I have PCOS but surprisingly did not have any issues becoming pregnant with my daughters. I decided to stop trying and planned on having a tubal ligation in January due to my age (I was turning 36 in July).
In November 2019, my fiances brother, Devin, tragically died from suicide. This was an incredibly difficult time for our family and at the time we weren’t sure how we would ever get through it.
A few weeks later, I took an at home pregnancy test (one of hundreds during that year) and found out I was pregnant. I managed to keep it a secret from our children and our family until Christmas (2020) but couldn’t stand to wait any longer! I wasn’t through the first trimester yet but I had to announce our little miracle. Our kids were ECSTATIC and shocked. Best Christmas gift ever, right?!
I had an NIPT test to determine if Corbyn had down syndrome or any other chromosomal abnormalities and also to learn his gender at 12 weeks. We waited for a long time and they were unable to sequence the DNA (which apparently is pretty rare). Our genetic counselor thought that it could just be due to the fact that I had taken progesterone early in pregnancy to prevent a miscarriage or that he may have an abnormality.
So in February of 2020 (yes, right before the Covid lockdown) our good friends gifted us with a 3D Ultrasound from Womb with a View and we found out that Corbyn was a boy!
Everyone was so excited because we already have 3 girls and only 1 boy and they REALLY wanted a little brother. I was excited to be having a boy but I was absolutely terrified. I didn’t know how to be a mom to a boy and I was concerned about complications due to my age.
These ended up being the least of my worries as the weeks progressed.
Diagnosed with Duchenne
My mother had testing to see if she was a carrier a few years ago and the results were very unclear. Nobody else in our family (besides my brother) has or had DMD.
I spoke with a genetic counselor when I was pregnant and we decided that it would be best that I get a blood test to determine if I was a carrier. There is a 50% chance that I am a carrier IF my mother is a carrier.
I found out a few days later that I was in fact a carrier for Duchenne Muscular Dystrophy. By this time, I was about 18 weeks pregnant.
After some thought, I decided I needed to know if my son had DMD before he was born to either ease my mind or to plan for his future. I had an amniocentesis done and we waited for about a week before the results came in…
On April 10th, 2020 – at about 19 weeks pregnant – we found out that Corbyn does have Duchenne Muscular Dystrophy.
I can’t really describe my exact feelings at the moment. At that time, we were in the beginning of the pandemic and there was just so much uncertainty and stress in general.
The one thing I did know for sure was that no diagnosis would ever change my excitement and love for my baby.
My fiance was at work and I wanted to wait to talk to the children until he got home. My oldest daughter and I are very close and she knew right away that something was wrong. I had to tell her right away. We hugged and cried for a very long time.
Our other children were very calm and reassuring when we told them. My fiance did not seem very upset when I told him but he was trying to hide his emotions and was in a really tough space mentally over the death of his brother just a few months before.
Beyond Corbyn’s Duchenne diagnosis, I had a very healthy pregnancy. I had weekly ultrasounds to monitor Corbyn’s growth because he was measuring much larger than expected. There were some concerns for enlarged ventricles of his brain but an ultrasound after birth did not show any issues at all.
We welcomed Corbyn on August 4th, 2020 via cesarean and came home 2 days later!
It was the hardest few days of my life because I was away from my daughters. I have never been away from them for that long! They were so upset that they couldn’t meet Corbyn right away. My fiance was the only person allowed to be with me due to Covid restrictions.
The kids cried tears of joy the moment we brought him home and have been nothing but amazing with him since. This little boy was already so very loved.
Corbyn is a sweet and loving little boy (2 years old at the time of writing this) who came as a HUGE surprise to our family. Right now, things are going pretty well for him.
Corbyn has a fantastic smile and infectious laugh but he does not have many words for his age quite yet. He loves to swim, dance and he loves trucks and animals (especially his dog).
Our Medical Lives
Corbyn is ambulatory (walking started at 16.5 months), and his gross motor skills are improving each day. He has a great Physical Therapist he sees weekly. He also recently started Speech Therapy due to a speech delay (common in Duchenne) and is speaking more and more each day.
We were traveling to Nemours in Delaware every 6 months for MD clinics. Recently, we have decided to transfer his care to Nationwide Children’s Hospital in Ohio.
Although it is very far for us (6 hours one way), the Neurologist there is doing a clinical trial for a small weekend dosing of steroids for children with DMD under 3. Most do not even offer to begin steroids until 4 or 5 at the “plateau phase”.
There is nothing easy about making decisions regarding steroids and it is a very personal choice for each family. For Corbyn, this means a chance at increased function sooner rather than later and a trial of Prednisone at a LOW dose. There has been children in the trial previously that were given a higher dose that saw great results. If he has negative side effects, it will help us in the future to have insurance approve Emflaza instead. This trial can help other children with DMD start treatment much earlier.
We recently did carrier testing on my 2 daughters. We found out that my oldest daughter, Bailey, is a carrier of Duchenne and my youngest daughter, Reagan, is not.
While the carrier diagnosis for my oldest is upsetting for all of us, we feel very fortunate to know now. She has expressed that she doesn’t want children but seeing her interact with Corbyn makes me think she will change her mind.
I hope if she decides she wants to have children that she will have options to be able to do so. Adoption is something she has already talked about.
She will be going to Nemours in September of 2022 to see a Pediatric Cardiologist.
I recently had an EKG, Cardiac Echocardiogram and a Zio heart monitor. So far, I am not displaying any cardiac issues. I have a Cardiac MRI in November.
My oldest daughter is a competitive dancer and Corbyn enjoys traveling! My youngest daughter took karate and he enjoyed watching her do that as well. She will soon take dance as well. My stepchildren are always so happy and willing to help with him and play with him any chance they get.
If Corbyn was my first child, I don’t think I would have ever had more children. Our older children remind us often that they will always help with their little brother.
I have changed jobs since having Corbyn but luckily I still work from home and get to spend time with children all of the time. Working from home has allowed me to be with him daily and for his sisters to bond with him as well since they have been attending cyber school.
Corbyn’s daddy worked really hard for a long time but unfortunately has spinal stenosis, herniated discs, and severe arthritis in his spine and has been off for quite a while. While we are all happy he is home more, it is really difficult because of the pain he is in.
I am not close with much of my family and my dad stopped speaking to me and my children over 11 years ago. My Mom loves her (only) grandson so much and makes up for all of the family that doesn’t support us.
My fiance’s mom (Corbyn’s Nana) and her family have been amazing through everything. I am truly blessed to have his family in our lives. They have treated us like family from day one and their kindness and generosity has been so incredible.
Meant to Be
There is no doubt in my mind that Corbyn was meant to be and we were meant to have him in 2020. I was asked multiple times by others if I planned to end the pregnancy and that was never even a thought in my mind.
We tried for a baby for so long and I ended up getting pregnant 2-3 days after Devin died when we stopped trying. I wish he was here to meet Corbyn but in my heart I feel like Devin sent Corbyn to our family.
Corbyn has an aunt in heaven and her birthday is August 4th as well.
A lot of people refer to 2020 as being terrible and for the most part, I agree. But having Corbyn allows us to look back on 2020 and remember when our baby boy was born!
Corbyn was like the missing puzzle piece to our family and he has brought so much joy into our lives. His smile and laughter make everything better.
It makes me feel physical pain and heartbreak to imagine a life without him. I try to stay positive but until there is a cure, that will be my reality.