The story of Karen
My husband, Mark and I have been together for 34 years! We grew up a mile from each other and met in high school. We got married in 1989 and had our first child, Benjamin in June of 1991. Benjamin was so adorable and while in the hospital there was no indication that something was wrong with his health. I think we knew from the first night we took him home that something was just not right. He cried non stop at all hours. We changed his formula 5 times and was visiting the pediatrician every other day trying to figure out why he was so uncomfortable Our doctor had no answers for us. On July 3, 1991 we received a call at night saying Benjamin’s homocystein level had come back slightly elevated and Dr. Harvey wanted to have him re-tested through the Newborn Screening Program in Massachusetts where we lived. Not too long after that we received another call from our doctor saying that the test came back positive for Benjamin being diagnosed with a very rare disorder called Homocystinuria. We of course had no idea what that was and were sent in to Boston immediately to see a specialist named Dr. Mary. She sat with us for a long time trying to explain that both Mark and I are carriers of this disorder and we have a 1 in 4 chance with each pregnancy for our child to have HCU. We couldnt believe we lived so close all our lives and were high school sweathearts and both carried this rare gene.
Needless to say, we were devestated. It was a lot to take in. We had so many questions. A few she couldnt answer because in most states, they did not test for HCU. We were so lucky Massachusetts did. She wasnt able to definitely tell us that our baby would be able to live a long and healthy life. There werent enough patients diagnosed at birth to know the answer to that. It was a very scary time. So many unknowns. What we did know, was we were going to do everything we could to help our baby boy grow and thrive. To live a full life and help him through what we knew were going to be tough times.
We went on to have 2 more children. Both beautiful girls. Chloe who is our middle child does not have HCU. Our youngest, Gabbi, was actually diagnosed through amniocentesis. She was the first baby diagnosed with HCU this way. Honestly even though we had been through this before, it was just as devestating hearing that Gabbi had HCU as well. We knew it would mean a life long low protein diet (very low: anywhere from 4 to 10 grams per day). Horrible tasting medical formula and other medications that are rough on their stomachs. It would also mean non stop worrying as a parent of trying to keep their homocytein levels down, telling them they cant eat many foods, making them drink their formula and always worrying about the chance they can have blood clots and strokes if their levels are too high. We made a conscience decision to make their treatments (diet, formula, blood work) as positive as possible. In short we tried to make a negative into a positive. Most of the time it would work, but sometimes it was just hard.
Gabbi seems to have a few more medical concerns than Benjamin. She has osteoperosis and she was diagnosed with scoliosis at age 8 and wore a brace for 6 years. Unfortunately the brace didnt stop the curve and she had to have extensive Spinal Fusion Surgery in August of 2016. She was in the ICU for a week because of the combination of the spinal surgery and the concerns for blood clots with her HCU. It was probably the most terrifying week our family has experienced. It was intense. But the four of us huddled around Gabbi the entire time showing her love and letting her know she was the strongest person we knew and she could get through this with us supporting her through her journey.
HCU can be tough, but what you should know is that Benjamin is now 27 and graduated from a prestigeous college at the very top of his class in 3 1/2 years instead of 4. He owns his own home and has an amazing job in Boston. He reached his goal this past year of climbing all 48 mountains in New Hampshire and will be starting his next adventure soon. Gabbi, now 16, has won multiple awards for her photography and was invited to speak on Capital Hill to tell her story of living with a rare disease and about her photography this past February. A very proud moment for Mark and I and as Gabbi put it, an opportunity of a lifetime for her. She does very well in school and is involved in many activities one being a Peer Leader. She excells at photography. She is considering a career in maybe the sciences or possibly the medical field. She has time to figure that out, but whatever she chooses she will be amazing just like her brother Ben and sister Chloe.
Mark and I are so proud to say that our three children have grown to be strong, brave, resilient and most of all compassionate people. We believe that the experience of having HCU and their sister Chloe growing up with her siblings living with HCU it has made them into the wonderful people they are today.