A HINT OF HOPE

A week ago, Jacob got admitted to Children's for uncontrolled seizures. A week later, we are still dealing with uncontrolled seizures. On top of the seizures, Jacob has caught a nasty infection. His attending doctor said today that "Jacob has been worrying her".  She is afraid she is missing something. They are doing daily labs of all sorts, but everything comes back negative. Today, Infectious Disease and Metabolics got involved, so we have fresh eyes looking at Jacob. He is running fevers daily. His heart rate is elevated. Today, it was hanging in the 160s while he was sleeping. And his diarrhea is excessive. Tonight, he had a large bloody stool, so we know the stool is involved...We are now waiting for more tests and labs, and praying, hoping that Jacob won't crash before the doctors can figure out what we are dealing with. It makes me very scared to know that Jacob is fighting something that noone knows what it is. It is never good when you have an underlying mitochondrial disease.

In the middle of me worrying about Jacob being really sick, we got a piece of good news today. We are very interested in trying the non-FDA approved mitochondrial drug epi-743. It has stopped or drastically reduced seizures in several mitochondrial children. It could maybe the drug we are so desperately looking for. I knew if someone could help us with this it would be Dr. C. She started the process this morning. She was on the phone with several mitochondrial doctors around the country involved in ongoing epi-743 clinical trials. At 2:30 pm, she had a meeting with the drug company. An hour later, the drug company had promised to release the drug to Jacob! Dr. C. has all the paperwork ready to be submitted to FDA tomorrow morning, and they will let us know their decision within 24 hours. The chance is low that FDA won't approve it, but I will not completely relax until I know the drug is in our hands. I know that we won't know if Jacob will respond to the drug until we try, but just the fact that we get to try it makes me feel so much better. It is very important to me that I know that we have tried everything possible for our boy. I am trying to keep my hopes under control, but I know a lot of Jacob's future is hanging on this drug, and if it will work or not. We are not having great luck with his current medications right now. Jacob has been on most available seizure medications, and some he can't simply try due to his mitochondrial disease. We're running out of time and options.

I also felt today was a little bit better up until that bloody stool tonight. We didn't use Versed for the first time in weeks. Jacob was awake more, if still pretty lethargic. He enjoyed me reading books to him, Gemma visiting with him, and Sarah reading to him over skype tonight.

I hope I can report that we have epi-743 in our hands next time I write. I also hope that I can report what is making Jacob's body so sick right now, and that we have found a treatment.

Much love,

Maria.