Present for Christmas (D+18 months)

"Maybe Christmas, the Grinch thought, doesn't come from a store." - Dr. Seuss

Well we made it to 18 months post-transplant with no recent issues. The transplant team wanted to see Elise for an 18 month follow-up visit so we made a quick trip to Bethesda, MD. The day started with 18 viles of blood tests followed up by a CT scan of her chest and abdomen. Then we did the standard visit with the medical team.

Her blood test results all look excellent. The chimerism test will take a week or two to come back, but the last one was excellent and there's no reason to think this one will be different. Dr. Kang was out of town so we met with Dr. Harry Malech, Chief of NIH's Genetic Immunotherapy Section. He said he was happy with Elise's progress. They seemed particularly pleased that she continued to have no GI problems. Apparently this has become a key reason to undergo a BMT for those with CGD although they aren't 100% sure why the BMT seems to cure this particular problem.

We asked about getting off the Acyclovir and blood pressure medicine but the medical team wanted to defer that decision to Dr. Kang. Hopefully when she returns Elise will be able to go off those. That will be the last of the transplant medications. She'll likely need to continue the hormone therapy until she's 50 since the radiation and/or chemo seems to have shut down her ovaries (a near-universal side effect). We'll see the pediatric endocrinologist again in January, but I doubt there will be a change to that verdict. There's a slight chance the ovaries will kick in again but won't know unless/until Elise goes off the hormone therapy to try to get pregnant later in life (no time soon!)

The day finished with Elise getting 6 (!) vaccinations. With a new immune system she's forced to do all the vaccinations over again. They did the first round at 12 months but she was under anesthesia for a colonoscopy when they did it. This time she just had to endure 6 separate needle sticks. But as usual she was a trooper.

Our visit with the medical professionals was quick. They didn't find anything that made them schedule additional tests so we rescheduled our flight home a day earlier than planned. That made both Elise and I happy as it's Winter school break and neither of us really wanted to be away from home. So we caught an early flight and were home less than 48 hours after we left.

Our next scheduled visit will be at the 24 month post-transplant point (~ June '16). After that I think they transition to a once-per-year schedule for the following 3 years. And then she's done at NIH.

I can't think of a better Christmas gift than to know my daughter is healthy and happy.

Out and Back and No GVHD (D+480ish)

"The woods are lovely, dark and deep. But I have promises to keep, and miles to go before I sleep." - 

Robert Frost

Elise and I took a quick trip back to NIH in Bethesda, MD this week. We left the house about 3:15 AM on Tuesday and returned about 1:45 AM on Thursday. Can you say jet lagged sleep deprivation?

Elise has been having some patches of eczema on her shoulders and upper arms that seem to appear, resolve and then move to a new spot. It's leaving a pattern of light colored patches on her shoulders and upper arms. I'm told the light colored patches are a normal skin reaction and that the color returns to normal over time. This has been going on since last spring and the Drs at CHLA have been monitoring it during our monthly visits.

About 3 weeks ago she started complaining about a burning sensation in her eyes. It seemed to come on suddenly and didn't seem to respond well to eye drops or any of the normal things you might do.

When the transplant team at NIH got wind of the eye problems they asked that we visit so that their specialists could take a look. Their worry was that she was experiencing graft vs host disease (GVHD), a common but potentially serious (it can be life threatening) side effect of transplants. About 30% of stem cell transplant patients get some amount GVHD. The transplant protocol Elise went through is designed to minimize the chances of GVHD, and usually someone that has gotten this far post transplant without GVHD wouldn't expect to experience it.

So we scheduled an impromptu visit to NIH. I wanted to minimize Elise's missing class so we crammed everything into a day with the Drs and took a later flight home.

The opthamologist put all sorts of dyes and stuff in her eyes looking for "pitting and cracking" that is characteristic of GVHD. And the dermatologists (yes multiple, they travel in packs at NIH) did a biopsy. The good news is that neither specialist found GVHD. Her eyes are apparently responding to an allergen (grass pollen from the football field she marches on every weekday morning?) and the skin is just normal eczema (possibly triggered by a combination of meds and sun exposure).

So a sigh of relief is in order, but mostly we just wanted to catch up on our sleep.

In general Elise continues to do well. She's on the band color guard and also playing on the JV tennis squad. Along with classes and homework, this keeps her very busy. Last weekend she attended the Homecoming dance.

We probably will have our planned 18 month post-transplant visit to NIH in December or January. I'm hoping she can get off all the transplant meds and then we can eliminate the monthly visits to CHLA. The visits provide some amount of positive reinforcement and comfort, but they also take Elise out of school. It would also be nice to spend some money on something other than healthcare.

Elise with Percy

The Fun of Monthly Visits (D+426ish)

Elise at Hollywood and Highland between appointments at CHLA

"Forget what hurt you but never forget what it taught you." - unknown

Elise is about 14 months out from her bone marrow transplant last summer and things are going really well. She is still seeing the Drs more frequently than most kids (monthly), but compared to a year ago it seems like nothing. When she transitions off all the meds it should taper off to once every six months or so, and then once a year.

She's still on a few medications. She's taking acyclovir to dampen the impact of viral infections. There are a few they worry about, but at this point its more caution than necessity. She'll take this until the 18 month point. She's also taking the antibiotic bactrim to prevent pneumocystis pneumonia which causes problems in people who are immunocompromised. Her Dr at CHLA said she's ready to come off the bactrim now and so if NIH confirms that will be one less med (yeah!) 

Another med we tried to drop recently was the one she takes for high blood pressure (HBP). HBP is a side effect of one of the immunosupressant sirolimus that she was taking for 12 months. The side effects of the sirolimus linger in the system though so when she discontinued it she had an "event". She was at tennis practice and experienced elevated pulse and difficulty breathing. The coaches had me pick her up and pretty quickly we determined her BP was very elevated so we restarted the med and it came back in line within an hour. She hasn't had an event since, but she's going to continue the HBP med for a while longer.

We also had some fun with joint pain. Elise was complaining of pain in her left knee and so the Drs wanted her seen by an orthopedic specialist. Apparently a potential GVHD complication can lead to joint pain. So we met with them this week. Of course the pain subsided right after the consult was scheduled and xrays were completed. The orthopedic Drs didn't see anything of concern. We'd certainly like that outcome rather than the opposite, but it seems frustrating when you're trying to get the appointments all arranged and done.

The last thing she's dealing with (other than generally thin hair which seems to be growing back in slowly) is some patches of skin on her upper arms that have lost pigment. Each pigmentless patch seems to be proceeded by a light rash. The Dr has been watching it for a while but doesn't think it's GVHD and has referred us to a dermatologist.

I mentioned in my last post that Elise had been cleared to have pets again, so she made sure to pester us incessantly until she got a couple kittens. Becky and Elise found them at the local shelter. "Percy" is a "blue" color with Scottish fold features. "Tris" is a burmese color with a very slight fold to the ears. Even though they share some of the fold features they aren't from the same litter. In any case Elise loves her new kittens and we all get a kick out of watching them romp around the house.

Percy and Tris

Elise started her first year at high school a couple weeks ago. She enrolled in summer school and completed the compulsory Health and Geography classes so that she could take an extra elective, German, during the school year. She's practicing after school with the girls JV tennis team and also practicing before school with the marching banch color guard. She's in Cadet band as an elective, but they only join the Symphonic band for a few performances so she can participate in color guard with no conflict. Needless to say she's very busy and I'm happy to report her stamina is very good - you really wouldn't know she had a BMT 14 months ago.

One of the things we've been doing recently is going throught he house and cleaning out all the old and discontinued medications. After 14 years of dealing with a primary immune disorder there were lots of meds stuffed in cupboards, drawers and various other nooks and cranneys. We learned early on not to discard them because they often came in handy (colitis flare? better have predinsone on hand in a variety of dosages). It's been a real pleasure to get rid of these.

Today my wife cleared out "the last" drawer. I was looking at the meds and noticed it was simple antibiotic that was filled in Florida. It was the from the first serious medical incident Elise had encountered. We were on vacation in Orlando and she had been suffering with something that couldn't be pinpointed. Finally in Orlando her body just could cope any more and she spiked a fever and we took her to the hospital. Turns out it was c.diff (which we thought it was all along but the tests were negative for). Of course they thought it was something worse based on a false-positive test for a blood infection and she was hospitalized for 4 days with IV meds, etc. When they finally decided it was c.diff they had me go to CVS and get $5 worth of metrnidazole. $14K of hospital bills solved with $5 antibiotic they didn't want to give us in the first place - aarrgghhh). But the longer game had started. The c.diff seemed to trigger the first of a few colitis flares that would keep her sick and ravage her colon. Eventually it became clear that she needed either a ileostomy, colostomy or a BMT.

Throwing away that CVS bottle sort of put a long chunk of history behind us. Gladly.

No More YouTube Cat Videos Please! (D+348)

"Start by doing what's necessary; then do what's possible; and suddenly you are doing the impossible." 

- Francis of Assisi

I haven't written an update recently. Spring has sprung and summer is upon us.

We made it through the Spring with no incidents. There was a lot of sniffling and sneezing going on likely due to the overabundance of wildflowers here in California's high desert. It's a drought year in CA, but our little town got higher than normal rainfall and with it came a lot of wildflowers. And there were some coughs and eczema, but so far no GVHD (knock on wood) or other serious complications. The hormone therapy seems to be doing it's thing and the pediatric endocrinologist doesn't want to see Elise again until January.

As you can see Elise's hair is slowly returning. It's still very fine and not very dense but it seems to be filling in gradually. She shed the bandanas towards the end of the school year after my sister Carla trimmed it up a bit. She told Elise that the bandanas may actually be keeping the hair from growing out by rubbing the delicate hairs off. Elise gets stares from adults and small kids, but most of her peers don't seem to pay attention.

The end of the school year was chock full of activities. She "promoted" from middle school (8th grade) to high school at the end of the school year. She's done well this year grade-wise despite missing the first quarter. She even got several A's including in honors math (although she's quick to point out that it wasn't algebra that many of the better students were taking - that was just a bridge too far this year).

This week she had her 12 month follow-up visit at NIH. They did a bunch of blood work (15 viles), a pulmonary function test, an echocardiogram, a CT scan, a colonoscopy, and a bone marrow biopsy. The Drs said everything was looking good, in fact the GI specialist said her colon looked "pristine". This latter is a relief since the damage she had suffered from several bouts of colitis was the main tipping point for deciding to go forward with the stem cell transplant. Her bloodwork was also impressive - at least to me. I'd never seen her blood counts so high, nearly everything was well into the "normal" range. In the past her WBC, RBC, HGB, and platlets were borderline low at best; now they are all well into the normal range.

They won't get the chimerism test back for about a week. It measures how much of her immune system is the new system vs the old system. In her case they want the new system to ramp up gradually so that she avoids GVHD. This is very different than someone with, say, leukemia where they actually get some benefit from GVHD (it helps kill off any remaining diseased cells). So far it's gone well and we anticipate a good result. If it is good then she can stop taking the immunosuppressant (sirolimus) and other supporting medications. Elise is really looking forward to that.

While she was still sedated following the colonoscopy and the bone marrow biopsy, we'd arranged to get her first round of immunizations. She has to go through the whole series that kids go through because she has a new immune system. So she had SEVEN shots split between her two arms! Between the shots and the bone marrow biopsy (which requires a large needle puncture to the pelvis), she was pretty sore Thursday night and Friday morning.

We made it home from NIH late last night. We're all looking forward to our upcoming vacation at Newport Coast. It will be particularly special for Elise since she'll be able to get in the public jacuzzi pool this time. Because of the CGD we haven't let her go in jacuzzi's until now. It may not seem like a big deal, but when all the other kids are doing it and you can't, well it just highlights that you're somehow different. Well not anymore.

Oh and the best news (from Elise's point of view) is that her doctor agreed that she can now have a cat. While she's been recovering from the transplant we couldn't have a cat in the house (due to germs from the litterbox). She's really excited about the prospect of having a cat.

Steady Progress (D+250)

"My favorite animal is steak." - Fran Lebowitz

Elise and I made a quick trip out to NIH in Bethesda, MD for a follow-up appointment. The medical team had contacted us and asked to see Elise since our "6 month" follow-up was done a little early. We managed to sneak into and out of the east coast between storms so we missed the intense cold (aka "the Siberian Express") they've been experiencing this winter.

Elise had the routine battery of blood tests and exams. Everything is looking really good, with her neutrophils and all the blood components rising as anticipated/hoped. What's remarkable to me is that some of her counts are better than they've ever been. For example her platlet count is well above 200 - I've never seen it that high in the "normal" range. It's all pretty exciting even if the progress seems glacially slow.

In addition to the standard exams, she also saw a pediatric endocrinologist and also an opthamologist. The pediatric endocrinologist confirmed what the Dr at UCLA had found ("preliminary ovarian insufficiency") but stressed that they really have no way to gauge who's ovaries will recover normal function and whose wouldn't, so she said we shouldn't count out a full recovery. I don't think Elise is concerned one way or another.

What the endocrinologist did confirm for us was that Elise probably won't grow much taller. She's about 4' 8.5" which is less than the 1st percentile (less than 1 in 100 people are shorter). She may gain another inch or two, but the interruption in her growth (probably from colitis and meds) is most likely permanent. I guess we'll need to start looking for cushions to sit on while driving...

Elise had a consult and several tests with an opthamologist. She has been complaining about sensitivity to light and the eyes can be effected by GVHD so they wanted to take a look. It's all good news: no GVHD and her eyesight is essentially 20/20. The sensitivity is probably just due to allergies (the warm and relatively wet winter has led to lots of early wildflower blooms in the desert where we live).

Elise was a little disappointed with news from Dr. Kang, the main transplant Dr.: no cats until later. Elise has been jonesing for a cat and was hoping that she'd been allowed to get one, but they can spread toxoplasmosis from their litter boxes so no joy. On the plus side, Dr. Kang said she could start horseback riding which is something that Elise has wanted to do.

Elise's weight is back where it was before transplant and so Becky and I are starting to pull back from the "eat, eat" mantra. I'm sure Elise is a little relieved by that. Her hair is filling in and she's occasionally going without her bandana, although she still seems self conscious. I'll bet she will lose the bandana in the next couple months as her hair fills in. It's much darker and thinner than before, but I'm told the color and consistency change in the first couple years.

We're schedule to go back to NIH in June for the 12 month follow-up. They've be doing a bone marrow aspiration (ie taking a sample) and also a colonoscopy so we'll be in Bethesda for a few days.

A couple small but good things are that Elise no longer needs to wear the mask at the hospital. She also has changed to monthly vs biweekly visits to CHLA for follow-up monitoring. Yeah!

Elise was initially bummed when she found that Harry's Tavern at Dullas had closed. We typically had stopped there when flying in for NIH visits while we waiting for the shuttle bus. But the disappointment was short lived: the restaurant that replaced Harry's, District Chophouse, had steak and so we split a New York cut that was awesome. I recommend it if you're stuck at Dullas.

Reduced Mileage Ahead (D+211)

"Childhood is a short season." - Helen Hayes

There's been lots of progress since my last post. Elise's persistent cough resolved, the stye she had in her eye resolved, and we got in to see a pediatric endocrinologist to address the suspected premature ovarian failure (POF).

The cough and stye seemed to resolve pretty quickly once she stared a 5-day Z-pack antibiotic. It could be coincidence, but I don't think so. Her eye was looking pretty bad and it took quite a while but it seems to be gone now. The cough she'd had for a month just seemed to turn off like a light switch about 2 days into the 5-day Z-pack treatment.

We ended up giving up on the pediatric endocrinologist at CHLA. We couldn't get in for first visit until late February. And worse, we received a letter saying that we should expect to wait 3-4 months for any necessary follow-up visits. They should have just given us a list of alternate providers. So I looked up who was available at UCLA and called. We had an appointment within days.

The endocrinologist ran several tests including bloodwork, an ultrasound and a x-ray to determine bone age. In the end, she confirmed the POF diagnosis and placed Elise on hormone replacement therapy which is essential a variety of birth control pills. The Dr said Elise should have a period again in a few weeks and things should even out pretty quickly. When we discussed the longer term the Dr said she really couldn't tell. Some women recover function and can go off HRT but others can't. Since the treatment is birth control the Dr. said that most women just take HRT until they decide to try to get pregnant and then take it from there.

We also discussed Elise's overall growth. She had been tracking just above the 10th percentile for height and then her growth stopped a little over a year ago. Now she's well below the 3rd percentile. The DR. couldn't say why this is so (probably has to do with colitis and all the meds she's taken), but the hand x-ray indicated that her "bone age" is about 13.5 years, so she's unlikely to grow much more than another inch. That means that Becky probably won't be the shortest one in the family anymore. On the other hand, she's eating well and there is anecdotal evidence that some people "catch up" so we'll just wait and watch.

The biggest news is pretty exciting for all of us: Elise is moving from biweekly visits to CHLA to monthly visits. Yeah! Her lab results continue to look better and better and so the Dr's feel that she doesn't need to come in as often. Additionally, she had been getting monthly pentamidine breathing treatments to prevent pneumonia; now she is transitioning to a oral antibiotic that she takes only on the weekend. Neither the frequent trips to CHLA nor the pentamidine treatments have been onerous, but it'll sure be nice to save the insurance copay, gas and time.

So all is well. We're looking forward to Spring and then Summer which will mark the 1 year post-transplant point.