My beautiful daughter, Aria Lee, was born this year. I was in labor for 20 hours, but she was delivered via emergency C-section. When she was born, she had trouble breathing and her blood sugars were low so she got admitted to the NICU for 5 days. Instead of being able to hold her skin-to-skin immediately after she was delivered, she was pulled away from me and rushed to the NICU. I remember wheeling myself (I was in a lot of pain from the C-section) to Aria’s bedside where her tiny body was attached to so many IV lines. I held her for the first time with tears streaming in my eyes.
At her 1-month check-up appointment with her pediatrician, Aria was referred to the emergency room for increased work of breathing, abnormally enlarged heart, and large head circumference. At the emergency room, my daughter had to get blood drawn for exam. The nurses poked her 4 times and was still unable to draw blood because Aria’s veins were so small and fragile. My poor baby screamed and cried unconsolably while they held her down to put the needle in her tiny arms. I stood there and watched her in so much distress – there was nothing I could do to stop her pain except attempting to soothe her by calling her name a few times. This will forever traumatize me.
Eventually, I found out my daughter had a large hole in her heart called ventricular septal defect (VSD). The doctors told us she would have to get open heart surgery to fix the defect. My heart sank and I cried uncontrollably at the emergency room while we were waiting to get admitted. Unfortunately, this was not the end. When we got admitted, Aria got a brain MRI and we later found out she had a condition called leukodystrophy, which meant some of the white matter of her brain was missing. I Googled what this could imply and I was beyond devastated. With leukodystrophy, she may live with severe disability such as not being able to talk, eat, walk, see, hear, and do the things normal human beings can do along with a very short lifespan. The doctors said given her big head size and the VSD, a rare progressive genetic disease was likely the cause. A thousand thoughts raced my mind when I was told this horrendous news, but the most pronounced thought was, “Why is this happening to me?”
The doctors said her VSD will need to be eventually closed, but we will try to make her gain some weight by waiting a few months before the major surgery so she can tolerate it better. For her leukodystrophy, the doctors started exome sequencing, which is a genetic test for Aria, my husband, and myself. They said the results should be back in about a month.
One full week, which felt like years, passed and we were once again discharged from the hospital. We went home, but it was not the same as when we first brought Aria home when we did not know what was ahead of us. I constantly worried about Aria’s health and felt guilty that Aria was born the way she was. I tried to stay optimistic and tried my best to put a smile on my face day-to-day, but it was not easy knowing the unknown.
Another month passed by and we went in for Aria’s 2-month check up appointment. This time, the doctor noted a decrease in her oxygen saturation so she called Aria’s cardiologist. We went in to see the cardiologist two days later and Aria was diagnosed with another serious condition called pulmonary vein stenosis, another very rare progressive disease. The cardiologist admitted Aria right away because it was life-threatening and they recommended she get surgery within the next few days.
The thought of cutting a knife through her tiny chest made me sick to my stomach. The surgery went well – the hole in her heart was covered with a patch and the pulmonary vein was cut and enlarged. The surgeon said she would need to be monitored aggressively for the next few years because there is a high chance that the vein may become narrow again. He also noted her left pulmonary veins, which is where he operated on, were “abnormal-looking veins.”
When I first saw her after surgery, I almost did not recognize her. Aria was unconscious, her whole body was puffy from edema, and she was attached to numerous machines and IV lines. My daughter was in the cardiac ICU for about a week, which again felt like years.
Other than the arrhythmia and a dip in her blood sugars, her recovery was rather fast. She was discharged ten days after her surgery. We went in for her cardiologist follow-up appointment a few weeks later and found out there was potential narrowing of her veins again. This time, instead of having only one vein affected, there was two – the upper left and lower left pulmonary veins. The left lower pulmonary vein was the vein she had surgery on.
Eventually, she had to get another surgical procedure done called cath lab, where they insert a catheter into her groin to reach her heart. The cath lab was done a few weeks later and it was successful. We got admitted for one night for observation and got discharged the next evening.
A few weeks later, we got a call from the genetic counselor confirming the results for the genetic test. We found out she was born with an extremely rare genetic disease called megalencephaly-capillary malformation syndrome (MCAP). After performing some vigorous research, all the missing puzzle pieces came together – her large head circumference, leukodystrophy, enlarged heart, pulmonary vein stenosis, VSD, along with other features were symptoms of MCAP. This disease meant Aria would most likely have a large head size, impaired/delayed motor skills, and mild to severe intellectual disability.
After I heard about the diagnosis, I was in denial mode for weeks. Every exam I had during my pregnancy came back normal and I could not see myself raise a child with such disabilities. I am still very upset about the situation but trying to accept it slowly.
When my daughter was born, I thought my family only had a bright harmonious future ahead of us. Perhaps it is fortunate she did not inherit the disease from either my husband or me - it happened as a random mutation with the probability of it happening being less than a million. Otherwise, we might have lived with some form of lingering guilt throughout our entire lives.
We spent countless days in tears and misery. We were in and out of the hospital as if it was our second home. The covid-19 pandemic did not help the situation either. We received minimal social support and spent 4 months trapped inside our house just like prisoners. We did not want to risk Aria's already vulnerable health.
As a mother, there is nothing I would not do to cure Aria's disease and sufferings. I would do whatever it takes in a heartbeat. However, the disease has no cure, which is the most heartbreaking part of it all. I have already seen so much. My poor baby screaming in pain during the countless times she had to get needles poked inside her tiny fragile body, my baby crying silent tears while she was intubated, my baby's horrendous scar that will permanently remain in her once flawless chest. A few times too many.
Unfortunately, Aria will need to continue getting exams - more ultrasounds, CT scans, lung perfusion scans, and MRIs to monitor her condition and intervene when necessary. I already went through so much and thought I wouldn’t have the energy to continue. But what would I do if I didn't? I have no choice but to continue.
I will do whatever it takes to make Aria’s life as “normal” as possible. It would be a lie if I said I didn’t compare Aria with other healthy babies. Every time I see a healthy baby, a pang of jealousy creeps up, but I try to brush it away almost immediately. My new year's resolution is to take it day by day and stop worrying about the uncertain future. I will enjoy every little moment I have with Aria and savor every smile, laugh, and kiss. I will only give the best things to Aria and try to make her the happiest girl ever.
I considered whether a GoFundMe would be something that we would benefit from thousands of times. I hesitated because I didn’t want Aria to be known as one of the “sick babies.” However, I decided the diagnosis does not define who she is and wanted to spread the awareness of rare diseases like MCAP. If anyone decides to help, we will use the funds to help cover Aria’s endless medical expenses. Thank you very much for taking the time to read baby Aria's story. 2020 was really a hell of a year and I sincerely hope 2021 is a better year for everyone. Happy New Year!