After three months of testing, hospital admissions, and wondering if our child had a liver disease or a virus, our 8-year-old daughter Ella was diagnosed with LAL-D, or Lysomal Acid Lipase Deficiency. This is a rare genetic liver disease that affects between 70-80 people in the United States. We could not be more grateful for the doctors and nurses at Boston Children’s Hospital for diagnosing and treating Ella. She has handled bi-weekly infusions like a champ. Ella loves doing gymnastics and playing with her friends, and we are so thankful that she can do all of the things that make her happy.
There is potential for significant advances in medical treatment for this condition, but it is under-funded because it is a rare disease. We would love for you to share this information via social media to increase awareness. By increasing awareness, it may save another family from sleepless nights, and help to diagnose a child or adult earlier, giving them the best chance for successful outcomes. Donations to LAL-D Aware will help to raise awareness, provide support groups, and fund much-needed research. We have a strong connection to Boston, especially now due to Children's Hospital, and it is very moving to us that LAL-D Aware can be supported through the Boston Marathon Charities. This will be Adam's second year running in it.
I want to thank our friends for emotionally supporting our whole family during this time. Our Amherst friends, Boston friends, friends from “the hill”, co-workers, college friends, Michelle Kieper and fam, parents, aunts, uncles, cousins, and babysitters. Also, a special shout out to my Towson friends for listening and making me laugh.