Family Stories; Alyssa Meisel

Methlymalonic Acidemia , mut 0

Hi. I am Alyssa Meisel. The only thing that makes me different than most other fun-loving girls is a disease called methylmalonic acidemia or MMA, for short.

I was fortunate to be diagnosed with MMA (Mut 0) before I was born. As a result, my treatment was directed by the terrific metabolic team from the Children's Hospital of Philadelphia (CHoP) immediately after my birth in May 1998 at the University of Penn Hospital, where my Mom's labor was induced. After being transferred to CHoP that first morning, I spent 2 weeks in the NICU until the doctors could assess my progress and develop a diet that was appropriate for me. According to my metabolic physician, Dr. Paige Kaplan, I was the first MMA patient at CHoP to be treated from birth based on a prenatal diagnosis of MMA.

The doctors knew to check me for the devastating disorder because I have a brother, Blake, who had died a year earlier from the disease when he was only 8 days old. Unfortunately, despite supplemental newborn screening, he was already in a coma and suffered serious brain damage (from acidosis) before the results of the screening were returned. Blake is in Heaven and is my Guardian Angel. Because of him, I have a great chance at life.

I have another big brother, Clayton, who is my best buddy. He does not have the disease, although he may be a carrier. I love Clay very much, though sometimes we do fight. (Sometimes, I even start it!) My Mom and Dad tell me I am very blessed to have such a caring brother to watch over me.

My friends and family do not mind that I don't like to eat much food. They understand that I would rather have my formula put in my belly through my G/J-tube. I have had my g-tube since I was 7 months old after refusing to eat my formula for several months. I did not like that other tube going down my nose so now I have one in my belly. My Mom tells me the g-tube is a God send and that it has saved my life.

I eat a special diet of Pediasure and three medical foods (Prophree, Duocal and Propimex 2). Other than that, I really don't eat much by mouth. Sometimes, I will eat a few bites of popcorn, dill pickles, chips, broccoli, carrots, asparagus or portabella mushrooms. Most of the time, I would rather just help to cook instead.

Fortunately, I don't vomit as much as I used to. I have been diagnosed with gastrosophogeal reflux and cyclic vomiting. Medications have helped me control these issues. The J tube has enabled me to manage the episodes of vomiting that do occur.

Because of the MMA and reflux, I have to take several medications each day. These include bi-citra, zantac, prilosec, and periactin. I am also on a supplement of carnitine that was started just a few years ago.

Since I was born, I have been in the hospital several times due to flu bugs that would not allow me to keep my special formula in my belly. This happened more before I turned one year old. Several years ago I had numerous hospitalizations as a result of cyclic vomiting and bouts of acute pancreatitis. This was very painful. Because of the frequent hospitalizations, we decided to have a mediport placed to allow easier access to my veins. The doctors also changed my G-tube to a G-J tube that allowed food to by-pass my stomach when vomiting became severe. This allowed Mom and Dad to care for me at home sometimes instead of going to the hospital. At those times I had to be put on continuous 24/7 feeds.

Putting my disease aside, I have lots of family and friends. I also have a dog named Cookie. She is a lhasa-poo. When I'm not playing with Cookie, I enjoy swimming, horseback riding, camping, riding my bike, playing flute and playing board games / cards. I'm told that I am quite the card shark! I had to give up soccer because I used to vomit from all of the running. I do very well in school, too. My favorite subjects are science and music.

I am truly blessed to participate in the research study being conducted at NIH. I am very hopeful that Dr. Venditti and his team will find a cure for me and others like me very soon.

My Mom and Dad would like to add a few notes now, so I must go.

Take care and XOXOX

Alyssa

From Mom and Dad:

Alyssa is truly a blessing in our lives. Through the loss of our son to MMA, we know how devastating the consequences of this disease can be. While caring for a child with MMA has extremely stressful moments, we try to put those times behind us as quickly as possible and attempt to lead "normal" lives. God has a purpose in all that he does. We just pray that he will guide us in fulfilling his purpose for us.

If any one would like to contact us, please do not hesitate to call (717) 582-2195 or e-mail us at meisel4@comcast.net. We would be happy to answer your questions or just talk.

Sincerely,

Bonnie and Denny Meisel