The greatest blessing I received was in September 2012 when I became a mom for the first time! Ella, our first child, was born a healthy and beautiful baby girl. Holding her in my arms and looking into her eyes, I was immediately in love with her. My husband and I took her home from the hospital at one day old. Then, when she was only 4 days old, we received a phone call saying her newborn screening came back abnormal. We were told it was most likely a false positive because the condition is very rare. We took Ella in for more blood work and quickly confirmed that she does have a rare disorder called Homocystinuria.
Ella is now six years old and doing absolutely fantastic. She is healthy because she eats a very restrictive diet of only 9-10 grams of protein from food per day. She drinks Hominex 2 twice per day, and takes vitamins along with Betaine to help her break down the protein in her body.
Ella is a smart, caring, creative, and goal driven little girl! She is learning to read nutrition labels and count the grams of protein she eats daily. The hardest parts of having Homocystinuria are getting her blood work drawn on a regular basis, knowing there isn't a cure, and telling her that no, she can't eat certain foods other kids are eating.
We are thankful for newborn screening, thankful for a wonderful metabolic doctor here in Michigan, thankful for those that raise awareness and funds for HCU research, and thankful there are low protein foods and formula that are available for Ella.
We tell Ella that God made her so special when she was created!