My Beautiful Wide-Eyed Girl
By Carol Cheng
This month marks the 14th anniversary of the identification of Loeys-Dietz syndrome. It also marks the 7th anniversary of my daughter Aileen’s death from a ruptured aortic aneurysm at the age of 24. Her autopsy revealed LDS type 1 (family genetic testing determined it to be a spontaneous mutation). Until that time, I had no familiarity with connective tissue disorders. Since that time, I’ve learned a lot. So many of the physical characteristics that made Aileen the beautiful person she was are indicators of this disorder. She was born with bilateral clubfoot, had widely-spaced eyes, a bifid uvula, the softest skin imaginable, “double-jointedness”, didn’t walk until she was almost 16 months old, and had 4 broken bones from relatively minor incidents between the ages of 3 and 10.
But, who was she to us? Aileen was our middle child whom we loved so much. As a child, she was in a children’s chorus, played softball and figure skated, had a paper route, was active in Girl Scout for 9 years, and developed a wit not appreciated by all of her teachers. As a teen, she traveled to Europe with her theater company, took up photography, taught swimming, joined an equestrian team in Montana, survived an Outward Bound experience in North Carolina, and was grounded for hosting a party when her parents were away. As a young adult, she became a ceramic artist, earning a BFA from Tufts and SMFA Boston in 2010, fell in love, worked several jobs in retail, then joined Americorps/VISTA working with teens in a college readiness program in Hawaii. Aileen lived part of her life in the worlds of Harry Potter, Star Trek, and Lord of the Rings. The rest she lived with her friends and family where she made us laugh. She loved dancing, reading, riding, beverages, and tattoos.
Aileen came home for the holidays in December 2011, and we drove her to O’Hare on January 7, 2012 for her flight back to Hawaii. On January 10th, we received a call that she had fainted. We flew to be with her that day, but she never regained consciousness. On January 12th, we turned off life support. And, then the “what ifs” started. What if she had arrived in the emergency room 5 minutes earlier, what if she had been in Chicago with more easily accessible hospitals, what if someone (read here “me”) had figured out that she had something wrong, and what if a doctor had put together her various symptoms into a diagnosis of LDS before she passed away. But, that did not happen as Aileen was born in 1987 and LDS was identified in 2005, the year she graduated from high school.
After she passed, I spoke with her physician, who is also mine, and like many LDS parents, I was the one who educated her on this condition. I had read everything I could find online, found the LDSF, and decided that I wanted to help educate the medical community and further research into this condition so that other families could have happier outcomes. I attended Conference in 2014 and was privileged to be asked to join the Board.
I continue to read everyone’s posts and stories on the LDS Families page on Facebook and when I look at the faces of all the beautiful wide-eyed children, I see my daughter. I cherish my memories of Aileen and I admire each one of you for meeting your daily struggles with LDS. I hope that together we will create better outcomes for all LDS families.