It was January 24, 2002, just seven weeks after her adoption and beginning her new life in America, that my daughter Alena was diagnosed with Mucopolysaccharidosis (MPS).
I felt as if I’d been run over by a train. It was the worst day of my life. I had no idea that her runny nose, her slight heart murmur, her small statute, her little hands, her big blue eyes, and that button nose held anything that could not be corrected or fixed.
And, I did not know or understand the magnitude of what was to come.
As I sat with her, surrounded by several doctors at Montefiore Hospital following Alena's bone density MRI body scan, I was given the news. They knew she was missing an enzyme but not which one; unfortunately, all deadly and none had a cure. Her blood would be sent to a Specialty Lab, which would determine which enzyme was missing and would also determine her fate. I sat there as they continued to "talk" to me, all the while hearing in my head "Supercalifragilisticexpeealadocios" as they repeated "Mucopolysaccharidosis."
There was NO cure. Alena had a lysosomal storage disease, which meant her body did not produce the enzyme that would successfully transport impurities from her joints and organs, and would therefore eventually cause joint and organ damage… leaving her mentally and physically crippled and ultimately kill her slowly.
Despite all of my years working in counseling and diagnostics, I was totally unprepared for this moment.
Over the next month, Alena continued to thrive much like any four-year-old, picking up new vocabulary, getting used to and enjoying her new life. But, also at that time, I was told that Alena was peaking, and she would gradually go downhill. Her body and mind would decline, and she would eventually die within a decade.
Given the news that your child has no chance or little chance for a "normal" life is the worst thing any parent can bear to hear. I was filled with fear, anger and resentment at everyone… from Alena's birth parents in Russia and the adoption agency to my own friends (some of whom couldn't understand), myself and the specialists who should have known better to identify what she had before I adopted her. It was the bleakest time in my life. How could I look at my daughter and love her the way she deserved? I wasn’t sure I could. I felt betrayed and angry.
I cried all the time, but I held out hope the enzyme she was missing would be the one that was on the verge of being biogenetically engineered.
Then, there was hope.
We learned that Alena had MPS VI, a specific type of Mucopolysaccharidosis known as Maroteaux Lamy, and her missing enzyme was on its way! Alena would get an enzyme replacement therapy called Naglazyme. My faith and hope had returned. I could dream of a wonderful life to come. It was August 2005, and Alena was the first in the Northeast to receive the treatment. She became steady on her feet, could lift her hands above her head and touch the nape of her neck. She was not cured, but she was on her way to living the life all mothers hope for their daughters.
Since that great day, Alena continues to receive weekly infusions. She is happy to do it and imagines "life" being infused into her body. We realize how incredible it is that the therapy became available, and we are so lucky to be able to watch her thrive. Alena has taught me humility and patience, and her spirit and smile can make the cloudiest day radiant.
Now, at 19 years old, Alena is truly remarkable. It’s not because she is mine, but because she is so very wise beyond her years. I have watched her grow into a beautiful young woman. I have watched her struggle with people who have discarded her, ignored her, and made her feel invisible. Yes, that is my interpretation. You see, Alena understood their issues and always forgave them for their ignorance. She rose above them. As a parent, you never want to see your child hurt. Alena continues to be the best she can be, and nothing gets in her way. At just 4’3” tall, she is larger than life.
Now just completing her first year at Quinnipiac University, Alena is shining. She is majoring in marketing and minoring in Communications. She wants her own TV show, and I believe she will have it. She already has her own local one-hour radio show. Alena has written and composed two original songs. She earned the Gold Award of highest distinction as a Girl Scout in 2016. And, she has written her own children's book entitled Differences Are Blessings. Just this past year, she was one of seven chosen to sing at Carnegie Hall!
Looking back over the past 16 years, Alena has taught me to be my best and to accept people regardless of how ignorant or uncompassionate they can be. Alena knows no boundaries when it comes to working on her own passions and desires. She has learned well the lesson of giving back. She received (actually, WE received) the gift of life, and she continues to sing and volunteer at community functions. She lectures about living with her rare disease and hopes to be the voice for others who have not been as fortunate as she. We understand that she could have died by now, and I hug her even tighter, lucky to have that hug reciprocated.
There is never a time Alena does not say "Thank you, Mama, for everything." Teasingly, I say, “You are welcome, even though I screwed up on the enzyme.” Prior to adopting Alena, I had sent her video to a genetic expert in adoptees because there was something I thought not right about her look. He said she was fine. We laugh about it now, thankful that he didn't recognize the MPS characteristics. It sends a chill every time I think about how I know I would not have adopted her had I been aware of her grave condition.
Being a mother is never easy, but being a mother of a child who is critically ill is another story. Although I was not Alena's birth mother, I felt responsible and guilty; what all mothers feel with a child who has issues out of the norm. There are no words for it, and the only thing that can help are the kind words and support of others and the hope that tomorrow will be as good as or better than yesterday. It’s a grieving process that starts immediately and doesn't end. Alena is one of the fortunate ones.
Alena, for sure, is an old soul. Now that she’s living independently of me, I can appreciate her and know I have helped create a life that is vibrant… a beautiful person in her own right with all the ingredients I prayed for as I wished to be that mother of the daughter I have. Alena says she is a package produced and created by me; a "little Marcia" (or so everyone says). There are tears of joy in my eyes and warmth in my heart because I realize I taught her well and that she is a blessing. She will more than survive; she will live, and, I, too, will carry on now and always live in her heart and memory as her Mother.
Happy Mother's Day to all who have a special life!