By Cindy Chiu
My daughter Katie was born prematurely and spent her first 45 days in the Neonatal Intensive Care Unit. When we finally walked out of the lobby, I felt we had seen enough hospital rooms for a lifetime. Unfortunately, that wasn’t the case.
Little more than two years after Katie first came home, she and I picked up a nasty stomach bug. I was really sick for over 24 hours and for the first time in her life, Katie was vomiting. But other than throwing up and tiring easily she was in good spirits, dancing around the room when she could, then taking a nap when she got too exhausted. We thought she’d get over the bug as quickly as I did, but after 36 hours I was concerned when she was still sick.
That night things went from bad to worse.
She cried out for water weakly in the middle of the night and from the sound of her voice my mother’s intuition told me this was more than a stomach bug. I called the nurse triage line at our pediatrician’s office and was told that it probably wasn’t a serious issue and to make an appointment in the morning. But when we headed to the doctor the next day, Katie was out cold; she didn’t even stir as we buckled her into her car seat. We were worried, but it wasn’t until I carried her into the pediatrician’s office that I knew that something was dreadfully wrong. The look on the nurse’s face said it all. Once she cried out for the doctor and instructed the receptionist to “call 911” we realized the severity of the situation.
Once the ambulance arrived and the EMTs ran tests, they saw that her blood sugar was dangerously low. So low that they needed to put an IV directly into her bone to deliver the dextrose fluid more quickly. It was unnerving to hear drilling in the back of the ambulance but I knew they were doing all they could to save my little girl’s life. By the time we reached the Emergency Department at Children’s Hospital Boston, her sugar level had stabilized.
Katie was transferred to the Intensive Care Unit and we stood outside the room as a team intubated her, inserted a feeding tube and started an IV. When all the commotion was over, we went in to see her. She looked even tinier than usual and as I held her hand, it felt so cold and limp.
After a barrage of testing, the neurologist, Dr. Omar Khwaja and metabolic specialist, Dr. Philip James determined that Katie had suffered a metabolic stroke that had put her in a coma. Based on what she was presenting, doctors thought she had *glutaric acidemia type I, meaning she would need a special low protein diet and to drink a special formula. The nutritionist Stacey Tarrant gave us so much good information, I felt really prepared for making sure I had the right balance in her diet after we went home.
Katie came out of her coma two days later, but she was not the same. Brain damage had left her muscles unresponsive, which meant she couldn’t talk, walk or move her arms. Her muscles went from being too rigid, to too floppy, to constantly having repetitive and random movements. It was heartbreaking to see our little girl, who was so active and coordinated before, unable to make her body do what she wanted. The fear and frustration in her eyes was almost too much to bear. Despite our shock, we were so lucky to have a team of specialists who provided so much support to Katie so she could recover to a level where she could finally go home. After 23 long days at the hospital, Katie was finally discharged on 8 medications, still unable to say a word or move voluntarily.
During the weeks that followed, we worked closely with the doctors to come up with a plan to slowly wean Katie off her meds. After two months, she was only on one medication and a year later she no longer needed to take any.
I cannot begin to imagine how devastating it would be to lose your ability to move and communicate. For a while after Katie came out of her coma, she never smiled or laughed. I would say or do things that used to send her into fits of laughter and she would stare back at me with a serious expression. It broke my heart, until one day I had the idea to show her old videos of herself. I thought that maybe seeing herself dance and sing would somehow remind her that she did these things once, and hopefully would do them again.
As she watched, a beautiful smile enveloped her whole face and as she tried to laugh, she let out her first sounds since getting sick. It was the most wonderful sight and sound ever and it started us on our long road to recovery.
The next months were full of physical therapy, occupational therapy and speech therapy sessions. Instead of scheduling playdates, I was juggling therapy appointments. It seemed so unfair that a 2 year old couldn’t spend the day playing with her peers, but had to spend hours with adults making her do things that her body couldn’t figure out how to do. It was hard to watch but it paid off. Today she is walking around unassisted and is an inquisitive chatterbox wherever we go.
Looking back at all of Katie’s struggles, one thing that really amazes me is the number of doctors and nurses who stopped by to visit us during her treatment. They weren’t always on Katie’s med team, but had seen her at some point and often stopped by just to see how she was doing. They were shocked and impressed to see how well Katie was doing a year later, because usually children who’ve had a metabolic stroke don’t rebound so well. They had so many words of support and encouragement, it really meant a lot to our family to have so many of the staff remember Katie and continue to care about her progress.
As a way to thank Children’s for all that they’ve done for us, Katie and I recently walked in the NSTAR Walk for Children’s Hospital Boston. Through the generous support of our friends and family, we raised over $2800 for the hospital. I was so proud to see Katie walk across that finish line on her own and so was she. The moment they put the medal over her head she was positively beaming. She has accomplished so much and we are excited to see what our little girl will show us she can do next.
*Addendum by Leah Hecht (metabolism NP)
The condition described in Katie’s story, Glutaric academia, is an organic acid disorder. It occurs when a person’s body is unable to breakdown lysine and tryptophan, two amino acids that are essential building blocks of protein. Too much build up of these amino acids, and their breakdown products, can cause brain damage, specifically to the part of the brain that controls movement. Children are most vulnerable to this brain damage when they become ill. Thanks to advancements in the newborn screening process, we are now able to identify many children with Glutaric academia. Once we’ve detected a child as being at risk for the condition we can put them on a special diet. This diet, along with close management of their symptoms, can avoid some of the condition’s more devastating effects. To learn more about how children’s Hospital treats metabolic disorders please click here.