My Daughter Has Muscular Dystrophy: One Mom's Story
Terrah Borsh recounts her family's journey through her daughter's muscular dystrophy diagnosis and the hope she has for her future, which will include a Make-A-Wish trip to Disney World to meet her princess heroes.
After having two boys, I couldn't have been more excited to be pregnant with a girl. My husband Ivan and I met while bartending together at a local Mexican restaurant in the hometown we live in (and love), Asheville, North Carolina. I discovered I was pregnant with my third child while in nursing school—which I'll graduate from next May—and when the sonogram came back with a girl, I nearly burst into tears. While I love my sons to the ends of the Earth, it was always my dream to have a little girl. There was nothing quite like that first sweet 'little girl' cry—it was somehow different from the boys. We brought Camila home from the hospital in pretty pinks and I prepared to add 'mom to a girl' to my resume.
Little did I know how quickly things would change.
As a nurse-in-training, I'm always tuned-in to the health of my children. I trust myself to provide a great, healthy life for them, to be alert to even the smallest of symptoms and to give them the best motherly—and professional!—care that I can. That's why I had to raise an eyebrow when I noticed Camila's feet turning inward. I knew that it wasn't normal for an infant and I rushed to book an appointment with our pediatrician. I hoped I was just overreacting (ya know, post-pregnancy hormones!), but when this trusted doctor advised that we see an orthopedic doctor, my heart sank. We drove right down the road to visit the Mission Children's Specialists and the doctor diagnosed Camila with club feet. Let me tell you, I thought it was the end of the world. It was so hard to watch them put heavy, hard casts on her tiny, few-week-old legs, to help keep her feet in the right position. And then eight weeks later, they performed surgery on my girl to help lengthen her ankle.
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And while she did well during the surgery and bounced back quickly, she wasn't gaining the strength my sons had mastered at the same age. Though it sounds odd to describe it this way, her body was just 'floppy,' and I wondered what else could be wrong. After a referral to neurology, I thought we were just taking Camila in for a standard MRI, but that day was the big one. The hard one. The day my heart shattered. It will forever be the worst day of my life.
That was the day we thought our daughter had Spinal Muscular Atrophy One. A genetic disease, it is a form of muscualr dystrophy that affects the part of the nervous system that controls voluntary muscle movement.
The neurologist had asked my mom to take our other two sons out of the room, so it was just my husband, myself, and Camila there to hear the news. It wasn't easy to digest, especially since this disease is the leading genetic killer of babies, with most never reaching their second birthday. I cried desperately in my husband's arms, wishing to be anywhere but here, for my daughter to have any other diagnosis than this one, as I tried my best to listen to the physician attempt to create a silver-lining of hope, saying that his intuition could be wrong. After some blood samples were taken—from the veins in my tiny baby's head—we all went home. And waited.
For a month, we were convinced we would lose our daughter. I spent a lot of time in those 30 days crossing my fingers for a miracle, anticipating a phone call. I also blamed myself. I got angry at God. I held all my children tighter, wondering why things like this had to happen to any family. I prayed and wished and cried, over and over again.
But after making it through that long, dreadful, draining month, good news finally came our way: Camila tested negative for Spinal Muscular Atrophy One. As soon as the words came out of the geneticist's mouth, I threw my arms around her. She was a tiny woman, who I had never met before, but she delivered a few words that turned my life back upright from upside down. There were plenty of happy tears, sighs of relief, and finally—six weeks later—an answer.
Camila does have muscular dystrophy—specifically, Merosin Deficient Muscular Dystrophy, or LAMA2. Though there is no cure, we have found a doctor who specializes in this type of muscular dystrophy to provide the best care for her that we can. This type of MD wreaks havoc both internally and externally on my now-3-year-old daughter's health. Her immune system is weak and if she gets sick, it can escalate to pneumonia in less than 24 hours. She has been hospitalized numerous times. She also can't cough like normal children, and all of the liquids that go through her body have to be thickened, due to this silent aspiration. She cannot walk, crawl, or lift herself up, but she can sit up. She gets around in her pink motor-wheelchair, which she can drive by herself.
But mentally? Camila is razor-sharp (like her mama, I'd like to think!). She is not only not delayed in cognitive skills, but she's ahead of children her age. Maybe most importantly, she's a happy child. She laughs and enjoys her three brothers—especially the newest addition to our family, her little brother, who we welcomed six months ago.
But dealing with her disease isn't easy for anyone in our family, and I often seek support from the Facebook community I'm part of, all of which are parents to children with CMD. We became inspired by other families who made their children's dreams come true and decided to apply for a wish via Make-a-Wish. The process was rather simple: I made a referral for Camila, and from there, they reached out to me and to her medical team for a confirmation of her diagnosis. We were blessed to be approved, and we'll soon be taking Camila to Disney World in May 2018 to meet all of her princess heroes!
Being Camila's mom has taught me to become the type of mother that everyone wants to have: I cherish every moment like it's the last. The thing about being faced with a life-or-death situation is that you learn to love more and put material things out the window. Every birthday is a celebration of Camila's life extended one more year.
I hope that by becoming a nurse, I will digest more and more information that could help Camila's condition. Because you know what? Even though research indicates that her health will decline over the years, I'm still hoping she'll one day walk and play with her sweet brothers. And I hope that we will have as much time as humanly possible with her; in fact, even if she outlasts her father and myself, I know her three brothers will care for her, forever.
More than anything, I want Camila to keep on believing in herself, as she does now. I hope she knows she can accomplish anything she wants to accomplish, that she's smart, she's strong, and that even with this disease, the world is her oyster.
And forever, she'll be my pearl.
If you want to learn more about Camila’s journey, visit her Go Fund Me account.