“Every 30 minutes, a child is born who will develop a mitochondrial disease by age 10. Each year, 1,000 to 4,000 children in the United states are born with a mitochondrial disease....we now know the disease is approaching the frequency of childhood cancers.”~ United Mitochondrial Disease Foundation, http://www.umdf.org/site/
Exactly nine years ago today, July 15, 2004, my daughter, Brooklyn Corinne was born. As with the birth of any new child, that day changed my life forever. Brookie was born at 36 weeks via C-section and weighed in at 8 lbs 7 oz and 19 inches long. My pregnancy had been a high risk one and complications had forced the early delivery and an extended stay in the hospital NICU. There was a week of being on a ventilator, jaundice, apnea and bradycardia with feeds, and reflux, which turned into a month stay in the NICU.
Once she was more stable, she was sent to a pediatric rehabilitation hospital to focus on her feeding issues and frequent projectile vomiting. The reflux and vomiting was on such a level that the doctors wanted to do a surgery (nissen fundiplication) when she was about a month and a half to prevent the vomiting, but decided to use meds to control Brookie’s reflux and delay the surgery. Instead, they placed a G-tube to help her feed. She was finally released to go home on September 24, 2004.
Brookie continued making slow progress toward the typical milestones, but something seemed a bit off and I couldn’t quite put my finger on it. At about 14 months, the pediatrician agreed to do some basic genetic tests to help alleviate my concerns. Everything came back “normal.”
In January 2006, Brookie got a high fever (106.7 without adding the degree). After giving Motrin and calling the pediatrician, I loaded my screaming daughter in the car and headed to the ER. At one point she stopped screaming and I was terrified that something was even more seriously wrong. We got to the ER and she was back to “normal” and her fever was down considerably. We were sent home.
Over the next few months, Brookie regressed. She could no longer sit, pull to stand, crawl, or babble. I tried, in vain, to get referrals to the neurologist. Finally, I took a video of my daughter in to the pediatrician for her to see the changes in my daughter. By March, we had an appointment with the neurologist. Several tests indicated that she could have had a very rare type of leukodystrophy, but mitochondrial disease was also a possibility. Several tests were done for specific types of leukodystrophy, but all came back negative. While we were waiting for the test results, I attended a conference on leukodystrophy. After speaking with one of the doctors there, he told me that he suspected it was a mitochondrial disease and urged me to have a skin and muscle biopsy done.
We got the results on November 8, 2006. Brooklyn and my son William (who just turned 10 on July 10, 2013) were both diagnosed with Mitochondrial Myopathy, Complex I. Thus, beginning my life with what will forever be the bane of my existence, mitochondrial disease.
There were many more tests, countless sleepless nights, hospital stays, seizures, illnesses, surgeries over the next several years. In January 2011, Brooklyn finally had the surgery that they wanted to do when she was a month old. In May 2011, she developed a urinary tract infection. We discovered that she was now unable to tolerate one of the major antibiotics used to combat severe UTI’s. To use that antibiotic would send her into true anaphylactic shock. Mitochondrial disease took its toll on my daughter. On September 18, 2011, my little girl passed away from complications of mitochondrial disease, urinary tract infection, and sepsis. She was 7 years old.
For more info please refer to www.umdf.org www.mitoaction.org or http://brookesway.homestead.