Thursday, December 4, 2008


As Bob said in the previous post, Emily was diagnosed in 2007 with a unique form of HCM. For the first year we thought she might be stable, but in the last 6 months the clinical data show she is in a form of heart failure.

Because of the decline in her condition we were referred from Tufts (New England Medical Center) in Boston to Children's Hospital Boston (CHB). After a lengthy evaluation procedure, we were fairly shocked at the recommendation that she be listed for a transplant. However, since her clinical data are so poor, and the likely progression of her disease is unknown, transplant really is the only option. As we were told in October, it is not a case it if she needs a transplant it is more when.

We finalized the testing and paperwork for the transplant on December 2, 2008. She was listed on December 8, 2008. It is likely the wait will be 6-9 months, although is it possible that it could be any day, or more than a year. The list for kids is very dynamic because it does not only depend on blood type and condition of the patient, but also age, and size. Kids can be listed after her, and be ahead of her on the list if their condition is worse. There are a lot of variables, so it is impossible to know how soon it could happen.

If we are still living at home when the hospital is notified that there is a heart available for her, we will be called and need to be in Boston asap. She will have surgery immediatley, and then be in ICU for 2 weeks, in hospital for 2 more weeks, and then we will need to live in Boston area for a month or maybe two, right after she is released to receive post-op care.

We are told that transplants have come a long way, and people can lead fairly normal lives post-transplant.

Wednesday, December 3, 2008

Emily's Underlying Condition

Emily was diagnosed in June 2007 with Hypertrophic Cardiomyopathy. You can see from this MRI, looking toward her head with her spine at the bottom, that the walls of her left ventricle are much thicker than the right side, and that there is a nose-like protuberance from the septum into the ventricle. There's a link on the side to the HCMA site, where you can learn a lot more about HCM.

HCM is normally manageable but the underlying cause of Emily's cardiomyopathy is very unusual (she's one of a kind). The cause is related to a genetic abnormality of the mitochondria, not the heart muscle per se. This means that the clinical course of her disease was unknown. In the last year and a half the thickened muscle has thinned, the volume has increased, and the ability of the muscle to relax has diminished. This is called dilated cardiomyopathy and it is not treatable.