Jacob Mathew

Lauren with Jacob (and a little too much eyeshadow!!!!)






Jacob not looking very happy.







Jacob was born the Saturday after Thanksgiving. A few days later we found out that Jacob has some health problems. One of those problems was a rare disease called Pompe. Only a few thousand people have this disease in the United States. This was not what we hoped for or thought would even be possible. But it has and now we are learning a lot about Pompe disease. Pompe disease is a rare neuromuscular genetic disease. People with Pompe disease are missing or do not have enough of an enzyme.

Brian and Diane took Jacob to the doctor today to talk about what treatment is out there for Jacob. We are lucky that we are in a time that a drug company has come up with a treatment. First they have to test to see if Jacob is missing the enzyme or if he just does not have enough of this enzyme. We are hoping that it is just not enough. If that is what is happening than Jacob can get a treatment of this enzyme every few weeks and hopefully live a full life. There is a boy out there that has been living with this treatment since he was a baby and is now almost 10 years old. There has only been one death with this treatment and it was because of some other issues. We are so hopeful. If Jacob does not have this enzyme that he will need to have drugs for his body not to reject the enzyme first. Either way we are so happy that medicine has advanced so much that Jacob will have a chance at a normal life. He still needs a lot of prayers while he starts this treatment.