ScrumpyDaddy

Posted by Rachel

These past couple weeks have been very hard on my family, especially for my cousin Linda and her husband Andy. Their only child, Maddie, who had just turned 1, passed away on Nov. 10th due to complications from the swine flu. She had just celebrated her first birthday on Tuesday the 3rd and was supposed to have her birthday party on Saturday the 7th. She went into the the NICU that Saturday morning and passed away on Tuesday the 10th. You hear in the news all the people getting sick from the swine flu and that there have been deaths, but you never expect it to happen to your family and to someone so young. It has been so heartbreaking!

I grew up spending the holidays with my mom’s family and getting to know all my cousins (my one uncle has 7 children). I was the youngest of the cousins and therefore spoiled rotten. I looked forward each holiday, usually Thanksgiving and Easter, to seeing them and getting to spend time with them. When you have your own children, you expect they will have the same experience. You expect them to grow up with their cousins of similar age, playing with them and growing in maturity. Abby and Zach will be able to get to know all their other cousins, but will now miss out on getting to know Maddie. Abby just turned 3 this year and Zach is 4 months old; they will have no real memory of Maddie, except for pictures we show them and stories we pass on.

I unfortunately only saw Maddie for one weekend last year at Thanksgiving (2008). I live in Pittsburgh, PA, and my cousin’s family lives in New Jersey. We always go to NJ for Thanksgiving to celebrate it with my mom’s side of the family. Usually on Friday or Saturday, we would travel to Linda & Andy’s house for a wonderful meal Andy would cook. He is a wonderful cook! Maddie was only about 3 weeks old when I saw her. She was so small and so beautiful, with a full head of hair. I was able to hold her and help burp her. I showed Linda the trick on how to burp her on your knee, which always worked the best for my daughter instead of over the shoulder. I was very much looking forward to seeing her again this year to see how much she had grown.

She was a strong little girl who had already been through so much in her little life. Some of you may have read my husband’s post “A Tale of Two Maddies” and know that back in February she had gone into the NICU with botulism. She pulled through that despite her rare metabolic disorder and continued to thrive and grow. Maddie was born with what is known as HMG-CoA lyase deficiency.

HMG-CoA lyase deficiency is a rare condition; it has been reported in fewer than 100 individuals worldwide. 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (also known as HMG-CoA lyase deficiency) is an uncommon inherited disorder in which the body cannot process a particular protein building block (amino acid) called leucine. Additionally, the disorder prevents the body from making ketones, which are used for energy during periods without food (fasting).

I want to pass on her story and her life and maybe help some other children with metabolic disorders. Maddie’s family is asking anyone interested to please donate to the Organic Acidemia Association Corporation (http://www.oaanews.org).

The Organic Acidemia Association is a volunteer non-profit organization whose mission is to empower families and health care professionals with knowledge in organic acidemia metabolic disorders. We support early intervention through expanded newborn screening, solicit contributions and distribute funding that supports research toward improved treatment and eventual cures in the areas of Organic Acid disorders.

Please consider giving to this cause. I don’t think words can say anymore. Please watch the tribute Andy’s sister made, which is set to Mark Harris’ “Find Your Wings.”