Update on Bruce

Thank you so much to everyone for your support and we really appreciate all of your prayers and thoughts! 

Yesterday we learned what is going on inside our little man. Last week, the day we were admitted to Children's Mercy, we were told he has hypertrophic cardiomyopathy which is a disease of the heart where there is too much muscle. He can't always pump the blood where it needs to go because the heart muscle itself is so strong, it clamps down and won't release the blood to all organs in the body. 

A heart transplant was brought up by the doctors but it wasn't an option until we could find out what caused the heart disease. So, A LOT of tests were sent out, mainly genetic and metabolic tests to look for the culprit. Yesterday results came back positive for a genetic disorder called Pompe Disease. It's really complex and we're still learning a lot ourselves but basically his body can't breakdown glycogen and it stores itself in the muscles and cells of his body. This caused the heart disease and means a heart transplant is not an option; the Pompe will only cause another heart to build up with muscle.

To catch Pompe Disease this early is an absolute blessing. It's very rare and symptoms don't always show up until later in life in those who have it and that can be sometimes too late. If Pompe goes untreated, problems with the heart, lungs, and muscles arise and generally are fatal. 

The only treatment is enzyme replacement therapy and he will be doing it every 2 weeks for the rest of his life through a permanent IV. There are more tests to be run to make sure that he will respond to this treatment that he needs and those won't come back for six weeks or so. However, because the medical staff at Children's Mercy is AMAZING, rounds of treatment was ordered 'just in case' the test came back positive and only a few hours after John & I learned the results, a treatment was started. 

If the results come back that his body won't respond to enzyme replacement therapy, we will do the best to make his life as comfortable as possible. But, to have started treatment this early in his life just may allow him to function and develop normally for any beautiful, strong-willed little boy, as long as his body is willing. 

There is no cure for Pompe; only treatment. And a whole lotta prayers! If the enzyme replacement therapy works, his heart should go back to normal but he will always need check-ups to make sure all the vitals are in place.

We love this little guy no matter how much work he has put us through and a whole teams of geneticists and cardiologists and nurses the last several days and we will do whatever it takes to keep him growing strong!! He is eating well and putting on some weight which is a blessing in itself and he's starting to become more active each day. All positive signs!! 

This is a great website www.pompe.com for any questions and I'm constantly checking it out to learn all I can. No matter how scary it all is, we still have a wonderful little man in our lives and I thank God daily for my family!! 

www.pompe.com

GOD BLESS!!!

John, Sarah & Bruce