Some Background

I've started this blog to chronicle my daughter Elise's journey through the process of a stem cell transplant (aka bone marrow transplant, or BMT). There are several reasons I decided to start this blog. I've benefited from the blog of other parents who's children have gone through a BMT so I thought there might be someone who could benefit from our experience. I think it might be a good way for friends and acquaintances to keep up without feeling awkward about asking "how's it going". I'd like to keep a record for Elise so she can reflect when this is behind her. And I think it might help me sort through things along the way.

Elise has a rare primary immune deficiency called  Chronic Granulomatous Disease/Disorder (CGD) which is caused by a recessive gene anomaly. Her immune system can't mount a strong defense against many common bacteria and fungi. This means she's prone to some bacterial and fungal infections. Her body can fight off viruses just fine. CGD sometimes also results in inflammatory conditions such as colitis.

Elise was diagnosed at the age of 1 1/2 following a referral to an immunologist by her astute pediatrician. Many kids aren't diagnosed until much later when health problems have become quite severe.

Through the use of prophylactic antibiotics and anti-fungal medicines, Elise had remained relatively healthy until about 2 years ago. Her biggest outward problem had been side effects from medications. In Nov 2011 she was hospitalized in Orlando, FL with a c. diff infection which was easily cleared up with $5 worth of antibiotics, but it triggered a (scary for me) colitis flare up that took over a year to resolve.

More recently, she's had another colitis flare up which is under control right now, but her GI specialists feel that the situation is only going to grow worse. She hasn't responded well to any of the medications used to treat colitis and they've run through nearly all of them. She's also "fallen off" the height & weight growth charts which may indicate underlying issues that are asymptomatic. They are sure that if we do nothing then she'll end up with a ileostomy or colostomy. And worse, that won't be the end as the inflammatory condition in CGD tends to slowly migrate upstream. As a result, the discussion with her Drs changed this past November from "have you considered a BMT" to "we recommend a BMT".

There are only two cures for CGD: stem cell therapy and BMT. Stem cell therapy is still highly experimental: they have only done a few on boys with X-linked varieties of CGD. So a BMT is really the only option available to Elise.

So we've made a very, very difficult decision: we decided that the benefits outweigh the very significant risks and we're headed down the path of Elise having a BMT.