“And though she be but little, she is fierce.” – W. Shakespeare
Becoming new parents is like embarking on a great big adventure without a map or a destination. For us, Amberly is our greatest escapade of all. On September 28th of 2018, Amberly Raine came into this world and filled our souls with all the emotions a new family feels. The moment a nurse told David and I that she had red hair, not only were we shocked, but we both instantly felt that she was rare. Little did we know the word “rare” was going to change all of our lives.
After spending 4 days in the hospital because I had a c-section, we got to go home and start our new journey together. We were awoken that next morning at about 3:20 by our phones ringing non-stop. It was Woman’s Hospital saying that we needed to bring Amberly in to see them ASAP. When we arrived, we were rushed to the PICU and into a room with a few nurses who immediately took Amberly from us and started hooking her up to machines and an IV. Me and David were petrified when a doctor came in and sat us down to tell us that Amberly’s newborn screening flagged her for an inherited metabolic disorder called Maple Syrup Urine Disease (MSUD).
MSUD is when the body cannot process certain amino acids called Isoleucine, Valine, and Leucine, which causes a harmful build-up in your blood and urine. Normally our bodies can break down these proteins in the amino acids that can be found in meats, fish and many other varieties of food. Blood work is required weekly or monthly to check these levels and maintain her disease. Every time these levels are outside of the normal range it can cause her urine, earwax, and sweat to smell like maple syrup, poor appetite, changes in her muscle tone, neurological issues (brain damage, developmental delays, etc.) seizures, respiratory failure, coma, and possibly death if left untreated. 1 out of every 185,000 people in the world are diagnosed with MSUD. Rare was definitely well-suited for our baby girl after all, but she was about to show us the true strength behind the word “rare.”
When Amberly’s lab work came back her amino acid levels were extremely high. Leucine, the most critical of the three, was at a range of 1500 when the normal range is between 79 and 240. We were rattled to our cores, devastated would be considered an understatement. Woman’s Hospital treated us with such care and compassion, but eventually there wasn’t much more they could do. Amberly had to be transported in a helicopter to Children’s Hospital of New Orleans. During her 2 weeks as a patient there she overcame sedation, incubation, and dialysis twice. Her first round of dialysis was critical, we almost lost our newborn baby girl. We were told to prepare for the worst but pray and hope for the best. Between the amazing and hands-on team at Children’s and Amberly’s strength our mighty miracle pulled through. The second round of dialysis worked miracles, days went by and our girl was slowly getting off machines, opening her beautiful blue eyes, and finally getting to eat out of a bottle instead of a tube.
Eventually we got to bring our girl home and finally settle in, knowing this was just the beginning of a difficult road for us as a family. We have had to make a ton of sacrifices and watch Amberly very closely due to certain things like stress, illness, and many types of food that can cause her levels to elevate drastically. Many anxieties developed for us as parents, we had to quit jobs, lost positions behind hospital stays, became sheltered especially during covid, and having to look into homeschooling to give her the best chance at being healthy and happy. During many of these dark times, though, Amberly stays the embodiment of strength and hope, not just for us as her parents but for everyone she knows. She is fearless in every way that makes a parent proud and nervous. A social butterfly wherever she goes, always wanting to make a new friend. It saddens us at times when we sit and think about what’s in store for Amberly’s future. All the things she will have to miss out on in life and never get to experience.
The moment we were told that a liver transplant could allow Amberly to be able to grow without any restrictions and the harm of MSUD, we were engulfed in so many emotions. It’s definitely the hardest decision we have ever had to make as parents and possibly the rest of our lives. Many doctors felt that this is the best option for Amberly and would benefit her life in so many ways. She enjoys and loves life so much, if there was any way possible to make her life just a little brighter and longer, we are willing to do whatever it takes to give her that. Every day we are filled with anxiety about keeping Amberly healthy and borderline obsessed over her lab results every month, hoping for no dreadfully high leucine levels.
We have been blessed to partner up with Children’s Organ Transplant Association (COTA) for financial help with Amberly’s transplant-related expenses. Please consider donating to COTA in honor of Amberly having the brightest future possible. Throughout our short journey as being her parents, we have noticed that Amberly has an extremely large village of people who support, care, and love her unconditionally. We are forever blessed and grateful for you all! We are Amberly Strong!!
The Children’s Organ Transplant Association (COTA) helps children and young adults who need a life-saving transplant by providing fundraising assistance and family support. COTA is the nation’s only fundraising organization solely dedicated to raising life-saving dollars in honor of transplant-needy children and young adults. 100% of each contribution made to COTA in honor of our patients helps meet transplant-related expenses. COTA’s services are free to our families, and gifts to COTA are tax deductible to the fullest extent of the law.