Azmae
Cobalamin C
It was April 15, 2016. A regular hot, humid, and summer-like feel of Florida’s weather and I was sitting waiting at my obstetrician's office to be seen. I was due for my second checkup for the week because my due date was approaching. During this time the doctor was becoming curious on whether my growing baby was small simply due to its genetic makeup or perhaps due to a more serious cause. I was 36 weeks pregnant when I first heard the doctor mention the possibility of having a uterine growth restriction, which can often indicate a number of things, one being the possibility of a genetic disorder. This was my first pregnancy, and upon hearing this news, I was feeling very anxious and hopeless. Although I couldn’t see what was ahead of me, I knew I didn’t want to listen to the “what ifs” and “could be”. And so, more tests were performed, but they were inconclusive. I wanted to keep a positive mindset, but I knew something was unfolding. I continued wishing and hoping for the best; after all, I’m a firm believer that everything happens for a reason. I had always wanted to be a mother and would dream about having my own family - creating memories to talk and laugh about at family gatherings. This was the role that I desired the most: to be called “mom”.
Working in the medical field has assisted me in gaining knowledge about a wide range of scenarios and medical conditions. During the time of my pregnancy, I was working in a pediatric extended daycare so, I was familiar with babies, toddlers, and adolescent children with severe medical conditions. I’ve heard and witnessed miraculous things, but regardless of the experiences I’ve had, nothing I knew became relevant to how I was feeling and going through. I felt absentminded and my vision seemed clouded. I believe depression was setting in - I felt so discouraged. I thought I was doing everything “the right way”. I was eating healthily and exercising regularly, and I just didn’t understand how this could be happening now, so late into my pregnancy. I went to all my appointments and did all the recommended tests. But regardless of all the obstacles I was encountering, I wanted to remain calm for the sake of the baby that was still developing.
Throughout my entire pregnancy, I kept the gender of the baby a surprise; not even I wanted to know until the day I gave birth. On April 17th I was sent to Winnie Palmer Hospital in Orlando, FL to begin induction. The baby was not growing, and my amniotic fluid was too low. On the 19th of April, at 12:57 am, weighing 5 pounds and 7 ounces, my beloved arrived, and I named her Azmae. At 3 1/2 weeks old, Azmae was diagnosed with a metabolic disorder called homocystinuria with methylmalonic acidemia. This was recognized by the newborn screening that was conducted at birth and confirmed again during her first checkup with the pediatrician. Prior to being diagnosed, Azmae seemed very lethargic. She appeared to be getting more yellow, as the days rolled by, she wasn’t nursing well or gaining weight. It was difficult for her to stay awake and the little time that she was, she was mostly vomiting. For the first few weeks of life, I would syringe-feed her breast milk. I would attempt to bottle-feed her but that was mostly unsuccessful. During the first month of birth, we were mainly in the hospital. When she was admitted into Nemours Children’s Hospital, she weighed 4 pounds and 2 ounces. She was diagnosed with infant jaundice around the same time they confirmed her metabolic disorder. Even though being admitted to the hospital helped Azmae establish the care she needed, she still wasn’t improving as fast as the doctors wanted. It came to a point where I knew I was fighting against statistics, and physiology. Due to her failure to thrive, the care team was requesting her to have a gastrostomy tube. This tube would be inserted through the wall of her abdomen directly into the stomach. Her medication and liquid food would’ve been given through this internal nutrition. However, Azmae eventually gained the weight she needed in order to be discharged from the hospital, without the insertion of the G-tube.
As the months and years passed, testing and regular checkups from her doctors became a norm for our everyday lifestyle. Her breast milk was fortified with a high-calorie formula for about 3 months, which radically assisted in her weight gain. Azmae was permitted into school at the age of 3. She has an IEP and a 504 plan established at school and that is evaluated and updated yearly. She sees an occupational therapist, physical therapist, and speech therapist that assist in improving her quality of life. She has a cardiovascular doctor, who sees her once a year for her ventricular septal defect. She sees an ophthalmologist every 6 months due to macular degeneration, and a neurologist for her nocturnal seizures. Azmae is now a stable, functional, and thriving 7-year-old and visits her geneticist yearly.
As a mother, my journey with my daughter who has complex medical needs has brought with it all sorts of emotions. Azmae has faced many health issues that have made everyday life more difficult, but I believe by providing love and support through it all, has sustained her. Despite the constant visits to the doctors and the hospital stays, my daughter has always been resilient, showing strength beyond her years. She has taught me more about strength, courage, love and living a full life than any other person. Challenges will always be presented throughout our lives but with determination, I hope one day she'll help inspire others to finish strong. As a mother, it has been my role to help her develop the resilience she needs to face the challenges that are ahead. I want to instill in her that she is not weak and that she can overcome anything she puts her mind toward.
I believe in advocating for her needs, seeking out resources and support, and encouraging her to pursue her passion and dreams despite the difficulties she has. Her daily battle has taught me to remain consistent by encouraging me to stay strong. Most days she is a very joyful, curious girl and some days she is worn out. When I’m tired and weak, her smile drives my determination to pursue answers and keep pushing. My goal is to engage with those with the same genetic makeup. Together we have a voice, and we can be seen. In 2019, we were invited to the NIH (National Institute of Health) by Dr. Charles P. Venditti and his genetic team to participate in a study of cobalamin C deficiency. During this visit, we discussed her daily lifestyle and schedule. It was suggested to us that we administer 30 mg per ml of hydroxocobalamin daily. This helped tremendously with bringing her homocysteine levels to 28. Although she is not on any special diet, the dietician at the NIH recommended that we transition to a plant-based diet as she grows older.
Through our journey together, I have come to appreciate and truly understand the power of perseverance. We’ve been able to overcome some of the most difficult obstacles that life has thrown our way. Although Azmae is a tiny human being, she is a brave free thinker and acts benevolently while remaining assured. She is quick to forgive and always is the first to extend her hand to help. This is how she displays her heroism every day, and this is why I call her my hero.
