Alana seemed to be a normal baby. She was hitting all of her milestones and almost crawling by eight months. All of the sudden, we started noticing extreme fatigue, constipation and dehydration. We knew something wasn’t right. Five days after her eight months she was admitted to A.I DuPont Hospital for children for 46 days. The hospital stay started with countless tried for an IV and blood samples, and treating for infant botulism with an antibody for the toxin while we waited for the test result. The antibody is not harmful with no botulism, so we were ok with the preventative treatment and had high hopes. We were expecting a full recovery, however, she wasn’t improving like they hoped. Ten days later, we got the test back and it was negative. We were back to the beginning. Here she was getting worse, and no one knew why yet. The next step was an MRI of her brain, and the results; devastating. The MRI showed advanced leukodystrophy. The image of her brain was very bright, and that meant white matter deterioration. Our hearts broke.
Leukodystrophy is the deterioration of the myelin sheath that protects the nerves in the brain. Without your myelin sheath, your nerve impulses get bounced around like an uninsulated wire, making the body unable to relay brain signals. To get more answers, Kyle and I waited, not so patiently, for the full series DNA sequencing test to return. When we received the results, we both found out that we had mutated BOLA 3 genes, however, Kyle’s mutation has never been reported. Her gene mutation is new and complicated. The results also showed that she has an unknown variant of non-ketotic hyperglycinemia.
Her brain suffered from the deterioration of white matter, high glycine and high lactic acid levels. The doctors told us that she probably won’t make it to her first birthday. Everything we ever dreamed of for Alana, was shattered. Her childhood was robbed; we were all robbed! She was supposed to experience so many things. We entered a very dark place. But with the help of our family, with the help of our community, and most importantly, with the help of God, we found our strength and perseverance. We found the true meaning of “I’d do anything for my child”.
Everyday was nothing short of a blessing to have Alana. Everyday we saw progressions in her disease. Alana fought so hard, and for so long, and beat all odds, and still smiled through it. She’s was our hero, but since December 16, 2015, at 15 months old, she became our guardian angel. We hope that she realizes how many lives she’s touched, and will continue to do. We will spend the rest of our life living to prosper her legacy. This foundation is for her and because of her, and we hope everyone enjoys the ups and downs of parenting, because some of us don’t get to experience it. Thank you to everyone who helped us spend Alana’s last days, together.