About Elise

I realized that some people who read this blog may not know Elise. So here's a little bit about her.

Elise turned 13 years old in December. And being 13 she is on that border between pre-teen and teen. She's still a little girl in many ways (that I adore), but she's working to be independent in many others (that often frustrate me). She's smart and works hard to do well in school, but like Becky and I, she spends more energy on the things she enjoys. She recently qualified for the California Junior Scholastic Federation.

Elise attends Murray Middle School in China Lake, CA. She enjoys playing flute in the middle school band. In fact she likes it so much that she spends many of her school lunch hours sitting in with the brass section to practice (the brass section has a different lunch hour). Elise also likes to draw and has her mom's artistic ability. She signed up for "zero period" PE, which meets at 0630 every weekday morning, so that she could take two electives: band and art.

Elise dances 3 days a week with the Sierra Academy of Dance. She's been dancing since she was about 3. Her skill level has steadily progressed and she's dying to transition to pointe shoes when she's physically mature enough. She also takes gymnastics classes, but hasn't joined the local team because the practices would interfere with dance (and she really wants those pointe shoes).

As you can see from the photo above, Elise is also in Girl Scouts. Most of the girls in her troop have been together since they were Daisy Scouts. The girls are almost like sisters more than friends (with both the good and bad that implies). Her troop is working towards the Silver Award.

Elise loves to read. Once she got started on the Harry Potter books there was no turning back. She reads in the car, at dinner, and almost any chance she gets...unless there is a TV turned on. She really enjoys book series like Harry Potter, Kane Chronicles, Percy Jackson, etc. Like many kids, the worlds these books create seem almost real to her. She's currently reading the Kingdom Keepers series.

Elise has an empathetic personality - she really cares about how others feel and tries to look out for her friends. She's reserved around those she doesn't know, but can be a real goof with those she feels comfortable around. The past few years have shown me how mentally and physically tough she can be - so much so that I sometimes forget just how difficult it can be for her. It would be really wonderful to see the person she'd become without these burdens.

The Kane Chronicles left a lasting impression on Elise, and as a result she says she'd like to be an Egyptologist when she grows up. But she hates mummys...

Transplant Center: NIH

After you've decided that a stem cell transplant (aka BMT) is what you need to do, there are many different issues that you need to work through. One is the choice of a transplant center.

There are lots of high quality transplant centers around the US. However many follow treatment protocols tailored for a "typical" transplant patient, i.e. someone with life-threatening blood cancers like leukemia or
diseases which result in bone marrow failure like aplastic anemia. The outcomes for patients like Elise with a primary immune deficiency can be improved with a different treatment protocol, but there are far fewer patients to practice these protocols with and they are relatively new. So it's best to go to a transplant center that has more experience with BMT for immune disorders. There are a lot less of these simply because there are a lot less of these patients.

Given this, for Elise there were really only two choices that made sense: Children's Hospital of Los Angeles (CHLA) or National Institutes of Health (NIH) in Bethesda, MD. There are other transplant centers, but they are all effectively as remote as NIH is from us and had no particular additional benefits to consider.

A BMT takes a long time. There are 4 basic stages:

1. conditioning for transplant (12 days); 
2. transplant to transplant +45 days
3. 45 days - 100 days
4. follow-up care and recovery

During stages 1 and 2 Elise will be checked into the hospital and one of Becky or I will need to be with her at all times. During stage 3 Elise will need to be very close to the transplant center. Stage 4 can go on for months or even years but the Dr visits are typically routine appointments.

CHLA is closest to home and the support system that would provide would be nice. However we'd still need to relocate to the LA area for stages 1-3. Typically people stay at the Ronald McDonald House which is nearby.

NIH is on the other side of the country, so relocating will take on added complexity (sounds simple but I've been writing lists of things to consider, e.g. what do we do about a car?) Patients families tend to get a short term apartment in Bethesda. There are 3 pluses that swayed us to NIH. First, they are the CGD experts. Elise has been going there for several years under a study protocol (we fly back and forth), so they know her and we know them. Second, their treatment protocol includes collecting a stem cell donation from Elise in case the donor's doesn't engraft (this is an unusual risk mitigation step). And third, the transplant is part of a government-funded study so we don't need to hassle with our insurance company until the major activities have happened (we'll likely get stage 4 care at CHLA). I really don't want Elise's Dr's fighting with the insurance company over whether a medication is "standard of care" if she gets some life threatening infection.

So we've decided to go with NIH. An added benefit is that Elise says she's most comfortable there and anything to ease the apprehension is welcome.

Be The Match - Finding a Donor

Finding a stem cell donor can be very difficult. There are lots of willing donors, but selflessness is not the only criteria. Like blood types, the body will reject a stem cell transplant from someone that doesn't share a close enough human leukocyte antigen (HLA) type. Many people have had a simple test to determine their HLA type and then had this information stored in a national bone marrow donor registry so that people like Elise can find a donor match. The test is a simple swab of the inside of your cheek.

An HLA type isn't just a letter and symbol like your blood type (e.g. O- or A+), rather its two strings of several "letters", one inherited from your mother and one from your father. So the chances of matching becomes a game of statistics. To minimize the chance of rejection, doctors try to find an "8 of 8" or "10 of 10" donor match.

What I didn't know was that HLA types tend to vary based on ethnicity so that people tend to best match other people from similar ethnic backgrounds. And as you'd expect, the donor registry largely reflects the makeup of the country. What these two facts mean is that if your ethnicity is not well represented in the database or if its "mixed" then your chances of finding a suitable donor drops. I've read that chances of finding a donor in the US are nearly 100% if you are of European descent whereas if you are of Asian descent this statistic drops to something like 30%.

Fortunately for Elise, both Becky and I are pasty-white offspring of European lineage: when they ran a low resolution HLA type test on Elise there were more than 500 "8 of 8" matches in the registry. Since then she's had a high resolution scan and I've been told there are multiple "10 of 10" matches. So it would appear this won't be the worry for us that it is for many other people. I'm very thankful for that.

Be The Match. It's FREE and PAINLESS to register as a potential donor on the National Donor Registry. Go to BeTheMatch.org to confirm you meet the guidelines (only ages 18-44 need apply) and then they'll send you a free swab kit that you'll return to determine and register your HLA type.

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.