It was February 6, a morning like any other morning with two toddlers running around. I was 6 weeks pregnant, tired, nauseous, and I will spare you the rest. I was scheduled for a routine ultrasound that morning, although it was early on in the pregnancy. I was under the care of a high risk doctor due to previous symptoms in all of my pregnancies. Because I had these symptoms before, then had 2 two healthy babies, I wasn't too concerned about my appointment. Little did I know that the appointment would change my life.
As I laid on the ultrasound table, my mom and my children present, I began to notice the ultrasound technician’s demeanor was changing as she went from friendly and chatting to quiet in a matter of a second. I could sense the worry, concern, and sadness all over her as she turned the screen more towards herself and away from me. She continued to take pictures quietly, and when she was finished, she said, “I need to get the doctor. We will be right back in”. I knew in this very moment that something was wrong, very wrong. The doctor and the technician came back into the room, reviewed the ultrasound pictures, and not much to my surprise after sensing the technician’s worry, the doctor told me that I was in the process of having a miscarriage.
I laid there in disbelief for a minute, holding back the tears as I didn't want to let loose in front of everyone. Once the initial shock set in, I started asking a few questions regarding my blood tests, hormone levels, etc. As the doctor began to review my blood results, they noticed that my hormone levels were rising compared to the first labs and they were slightly puzzled. However, they assured me that there wasn't a baby (fetus) present, no obvious heartbeat, no fetal pole, and no yolk sac (please refer to the results pic on the next page if you are a skeptic, like myself). Once they had convinced me that I was having a miscarriage and there wasn't a baby, they began to give me my options, I could have a D&C that afternoon so I would have the weekend to recover, or I could rest over the weekend and let my body naturally do what it is supposed to do. If I chose this, they would see me the following week to make sure no infections were setting in. In that moment I couldn't think; my mind was reeling, my heart hurting, and all I really wanted to do go home, hold onto my other two babies, and cry. That’s exactly what I did. I decided to wait the weekend and let mother nature take its course. I do not really remember the car ride home other than having my mother make the devastating phone call to my husband and dad. As I walked into the house, I remember my husband and dad hugging me as I finally broke into tears. AlI remember saying is, “I am ok with whatever God wants for this baby and myself.”
Did I really mean that? Let’s be honest for a moment - no woman who desires to have children ever wants to lose one. But this was the beginning to an amazing journey that God had for me and my little one.
It was Tuesday of the following week when I had my follow-up appointment, and there was still no evidence that I had physically passed my baby. Anxiousness had set in and I needed some closure. I had two very active toddlers that needed their mom back to her normal self. After chatting with the doctors, they decided to do another ultrasound before sending me in for a D&C. Once again, I was laying on the table while the ultrasound tech took pictures, screen still out of view given the circumstances. After a few moments of screening, the technician proceeded to tell me she needed to get the doctor. I thought, “What now?” As the doctor was standing between me and the technician, he turned the screen towards me and said, “I am not sure what went wrong or what we missed, but look at this!” The technician turned the volume up, and I heard a heartbeat! I thought it was my own, but then he said, “Look at the screen!” Much to my surprise, there was a baby with a beating heart. In that moment everything seemed to stand still. The doctor and the technician were completely baffled and trying to understand what they missed, how they missed it, etc. In all honesty, I wasn't concerned about the technicalities at this point. I was amazed, excited, and yet still nervous about the outcome still looming. I was informed that although there was a heart beat, the heart rate was on the lower end and I still wasn't out of the “woods”. They would need to see me in two weeks for another ultrasound.
Let’s fast forward roughly 7.5 months, to September 22. I woke up early to labor contractions, and I decided to get moving and make sure that this was the “real deal”. It was only about 35 minutes after arriving at the hospital that I gave birth to a beautiful 6 pound baby girl. You can imagine the joy in this mother’s heart, especially given the circumstances at the beginning of this pregnancy. All was right in the world as I held her in my arms. As we were thinking of a name that would be fitting for this beautiful baby, we decided on Olivia Grace. We chose her middle name due to the grace that was shown to her and I early on in her life. Little did we know what still lied ahead of us.
It was a normal morning with a 3.5 yr old, 2 yr old, and a 4 week old, until my phone rang; it was our pediatrician. The nurse was calling to give me the results of Olivia’s newborn screening test. The test results had come back abnormal. The nurse informed me that I needed to make sure I was feeding her every two hours, not to let her fast longer than 4 hours or she could go comatose and/or die. The blood results indicated she could have a metabolic/mitochondrial disease, and they were not able to handle her case any further. They had set up an appointment with a pediatric geneticist in downtown Cleveland. Our appointment was scheduled about two weeks out, so you can only imagine what kind of stress we were all under until that day.
When the anxiously awaited appointment arrived, I needed answers. I am a person who plans; I do not like the unknown. This situation was starting to get the best of me. The geneticist came out and greeted us in the waiting room. We were one step closer to finding out what was wrong with our beautiful baby girl. As the geneticist opened Olivia’s chart and reviewed her records she informed us that Olivia has Medium-chain acyl-CoA dehydrogenase deficiency (MCADD), and they would need to process her DNA to confirm the results of the newborn screening to be accurate. Obviously, I am giving you the brief description of the visit. I literally left there feeling as if the doctor spoke to me in a language I have never heard before, let alone able to comprehend.
Once the DNA results came back, it was confirmed that Olivia has MCADD. If I may be honest with you I was still clinging onto a strand of hope that it was a false positive on the newborn screen (false positives do happen), the doctor would tell us that everything was fine, and we would go about our life the way I had envisioned. But God had a different plan. I would be lying if I told you that I wasn't disheartened and that my faith was stronger than ever. It was quite opposite; my heart was very heavy, it felt like my world was falling apart and my faith was being rocked to its core. As a mother I needed to comfort, nurture, and take away anything that was not intended good for my children. In that moment, though, I didn't know how to do any of the above.
After the initial shock from hearing the news that I had a baby with a rare genetic disease, there was so much I needed to do: multiple appointments with the geneticist, pediatrician, lab work, dietitians/nutritionists, putting together a emergency care plan, educating myself, our families, and friends about MCADD and Olivia’s needs to ensure that she would continue to thrive and grow as best as she could. Although this was overwhelming, I am so grateful we have such an amazing team of doctors who have worked together for the greater good of Olivia and myself. At the end of this letter I will add a link for you to visit so you are able to learn more about MCADD and what it means for those living with this disease. Essentially, MCADD is the inability to break down medium chain fats. When the body can not break down these fats for energy the way that it is supposed to during times of fasting or illness, the body begins to eat away at the fat and enzymes that the liver and brain need to function. This, in turn, can cause a MCADD patient to go comatose due to the liver causing fluctuations in blood sugar, and the possibility of physical/cognitive delays, and/or death.
Once we learned all that we could about MCADD, we were sent home to care for our little girl: feedings every two hours for at least 18 months, every 4 hours thereafter. If she were to become ill (fever, diarrhea, vomiting, etc,), or if she was just simply not wanting to eat, we immediately had to call our genetics team and they would give us a fast pass to our very own hospital room where IV’s would be administered upon arrival and we would stay for at least 24-48 hours or until Olivia was eating normally and no symptoms of illness persisted. The first few years were exhausting to say the least, I now realize how terrible sleep deprivation is for one’s body. The exhaustion was setting in physically, mentally, and emotionally for the both of us.
Fast forward nine years, three hospital admittances, multiple ER observations, who knows how many doctor’s appointments, and an unfathomable amount of prayers -
we have a thriving, energetic, beautiful, full-of-life young lady who is a superb student in school, plays sports, plays the violin and piano, and excels in math. As her mother, I could not be happier. I am so thankful that God has protected her and allowed her to grow and develop as she should in spite of MCADD. Although she is doing well, she still fights this disease on a daily basis. She gets tired quicker than most kids, and we have to be cautious taking her places during the height of flu/cold season. As she engages in daily activities, her routine is different than most. Unfortunately, it is a sad truth that not everyone living with a rare disease has the same outcome as Olivia, and that is why we are sharing our story.
We know God is all-powerful and strengthens us daily. Prayers for Olivia as she walks on the path that God has called her on!