Calm Before the Storm

We’re out of the hospital for a few more days, it’s our last true break before things really wind up. Tuesday is the beginning of Zoe’s pre-transplant conditioning, a process that will take about 3 weeks.

We wrapped up this past Tuesday with a spinal tap and bone marrow aspiration and a final pre-conditioning meet with Dr. P. We went over our questions and all of the test results, and in general the meeting was pretty somber.

It was time to commit. Time to sign papers and stomach all of the dire warnings that come with a procedure such as this. Every known side effect, no matter how rare, every worst case scenario. It can be really disheartening, but there isn’t a way around it.

Zoe’s test results were mixed. The vast majority of her tests results were great. Her kidneys however are still at half strength, which is really concerning. Also of concern was the renewed presence of histiocytes in her spinal fluid, something that we had successfully resolved once before with intrathecal chemotherapy. It only took one shot of it to suppress the histiocytes last time, and our hope is that the same will hold true this time, giving us time to get to conditioning without any problems.

What this tells us with very little doubt is that she has FHL. If she did not, we shouldn’t be seeing that activity any more as I understand it after treating it successfully the first time.

Outside of these two factors we are in pretty good shape, but we are of course stressed at anything that’s not 100% going into conditioning. Neither of these things will necessarily impact Zoe’s chances, however. The disease activity will be remedied very shortly with conditioning, and the kidney function doesn’t effect her risks of infection or GVHD, our worst fears, or her chance to graft.

What it does is raise the risk of fluid retention and future kidney problems, as well as their ability to use certain medications if things take a turn for the worse. This isn’t an uncommon situation though, the transplant team is well versed on handling such details. We’ve already modified her treatment plan slightly to adjust for minimal kidney damage from medication where possible.

At this point we’ve committed to our course. Pretty soon we’ll be almost entirely back in the hands of a medical team.  We have to rely on our efforts to research everything in making our choice, and hope our trust and faith are well placed.

Liam’s Lighthouse Foundation

As we work our way through this, Michelle and I have given a lot of thought to how we might be of help to future families facing an HLH or similar diagnosis. We have not yet figured that part out. At this point it’s all we can do to manage this blog, which I hope will be of some use, and help our girls get through this. Hopefully we’ll see the tunnel’s end soon and can figure our where we can be of use.

One parent who is giving back and working for HLH awareness already is Michelle Schulze, who has created Liam’s Lighthouse Foundation.  Liam’s Lighthouse Foundation seeks to promote awareness of HLH, a disease that is far to poorly known among the pediatricians who have to diagnose it.

Without a quick diagnosis, HLH does enough damage that, even if caught eventually, can prevent a child from recovering. It is also what is known as an “orphan” disease, which means it affects few enough people per year that it escapes wide notice and, importantly, proper research.

Increasingly it seems apparent that HLH is not as rare as once believed, but because it goes undiagnosed or is diagnosed too late in many cases, it seems impossibly rare. HLH is fatal in 2 months or less if untreated, so it’s imperative that pediatricians become aware of the signs and symptoms to be sure patients get into the hospital for treatment quickly.

Please take a moment to look at Liam’s story and the Foundation web site to see how one family is working for increased awareness.

Cyclosporine & Sodium, Updates

It’s Monday and we’re back to the day hospital at Duke. Today was blood draws and a redo of the GFR kidney function test.

On Friday they took a Cyclosporine level and it was really high, 590 or so, which is much too high for Zoe. It’s a bit of a mystery, since we haven’t changed her dose and, after much hand wringing, feel sure that nothing happened to give her too much. We just don’t know how it could be that high. Normal therapeutic range is 150-250.

She did get a dose just before the test was taken, and we’ve seen in the past that that can amp the results up considerably. We got a reading in the 400’s awhile back after she had a dose just before the test, but 590 is just very high.

So, she’s off Cyclosporine, probably for good now since it is not a part of her conditioning regimen.

We retested some levels today along with the GFR, and found that it was still at a therapeutic level, 112, despite being discontinued days ago. Her GFR was not improved, still about 50 (100 is what we want), but the feeling is that the continued presence of Cyclosporine is keeping it down.

On a positive note, her Sodium has gone up to 137. It’s been down throughout her entire treatment, ever since she began her chemo, but we did no have a reason for it. It would now appear that the Cyclosporine was causing low Sodium for Zoe for some reason.

This doesn’t change much for us, we still proceed ahead, but we’ll be monitoring her kidneys via other markers as we go.

Tomorrow is another spinal tap and bone marrow aspiration, another meeting with the transplant team, then home for the week we hope.

Work-up Week is Over


Long week, but very satisfying in some ways because we now know everything about Zoe from head to toe. No more worrying about what we don’t know, now we only worry about what we do.

She’s been poked, prodded, scanned, zapped, scream-extracted, sound-tested, irradiated (twice!) and suffered no end of cheek pinches. The only thing that bothers her is her blood pressure cuff though, she’s a fantastic baby, calm through most everything.

In terms of test results, Zoe is overall in great condition. Sometimes it just seems amazing that she needs a new immune system, the rest of her is in pretty fine shape.

The three main test results we were still waiting for are back, her brain and sinus CT and her kidney function.

The brain scan was completely clear. No swelling, no “gaps”, no shrinkage, and it’s centered (which is something that had never occurred to me to wonder about). This is great, great news. I was deathly afraid that her prolonged exposure to steroids was having an effect, or the intrathecal medication (into her spinal fluid) may have had an effect on the brain, but it has not so far.

The sinus scan came back with a little cloudiness on her right cavity, which to be honest was no surprise. My side of the family has a grand tradition of sinus problems during pollen season, and Zoe has been sneezing and sniffling in recent weeks at the same time the rest of us were. They prescribed a bit of antibiotic which should clear it right up.

The kidney function test is called a GFR, and involved putting a radioactive but non-harmful chemical into her blood stream. Her blood is then drawn at 1 and 3 hour intervals (on the dot! they’re very intense about this). This allows us to know how much of the chemical is being processed through the kidneys and therefore how efficiently they’re functioning.

Zoe’s first GFR came back at 49, which is about half of what they wanted to see. There is a strong feeling from Dr. P that that number may not be quite accurate, but none of us will be surprised if it’s close. She has been on Cyclosporine for a long time now, and a higher dose than is sometimes necessary we’re told. That can reduce kidney function temporarily. She also has had high blood pressure for quite some time we think which is directly related to kidney function. We have fits because the only test she really fights is the blood pressure, she has chubby little arms and doesn’t like the squeezing, and between the struggling and the crying it’s hard to know if it’s ever right. From time to time we get one when she’s asleep, and it’s usually just fine then, if slightly elevated.

Regardless, the test came back low so we’re doing another one on Monday. We’ll know for sure then. If it truly is low, it won’t change our trajectory but it will mean possible adjustments to meds in some situations to ensure we’re not doing permanent kidney damage. From what I understand, what we’re seeing is likely temporary as a result of her meds and her kidneys should should make a nearly full recovery in time.

The rest of her tests for the week showed her to be a healthy little baby, with the exception of her immune system (HLH) and the kidney issue. Again, shew.

Next week we have the GFR again on Monday, a bone marrow aspiration and lumbar puncture on Tuesday. After that we have about a week off, then we begin her conditioning and countdown to the transplant.


More on Reduced Intensity Conditioning, Cord Blood, and HLH

A lot more information today. Some days it feels like we’re drowning in medical data and decisions. Michelle and I have been working through the options and doing our best to understand each path using our own research and what we learn from parents who have gone through this, which we then speak to our doctors about and clarify until we feel able to make a decision.

With regard to RIC, we’ve been going back and forth about using that or ablative/high-dose conditioning. One route is the more conservative route that has more successful cases behind it, but greater future danger for Zoe’s health and development. The other is much more modern approach with less patient data to point to, but can result in a very clean, relatively safe cure for Zoe’s condition.

We have pushed Dr. P and our nurse coordinator pretty hard for answers to every possible angle of this in the past few days. We’ve presented other cases of RIC/HLH/Cord Blood patients with very similar protocols but which were not successes and asked them to help us understand what will be different for Zoe. We’ve pressed them for examples of successes with this combination of factors. We’ve asked for numbers on Duke’s track record with this combination as well.

At this point we feel fully satisfied that, for Zoe’s case, for her current condition and the team of people treating her, RIC is the way we should proceed. It’s a tough decision, but this is the direction that feels right.

In recent years there have been a number of advances that will assist Zoe. The team at Duke was the first to do an unrelated cord blood transplant, and they do more than any other institution. That helps our confidence level as well.

Their process includes several additional medications to the standard protocol that help raise the chances of a successful graft, one of the concerns when using RIC with cord blood and likely a factor in the failure to graft in some patients in the past. They know now to continue GVHD medications longer than was once felt necessary, with past cases at various institutions proving clearly that stopping too early can cause the graft to fail.

What we’re seeing is that HLH is a relatively young disease and that, while the treatment phase is well established with the HLH-2004 protocol, the cure phase is still being perfected. This leaves a lot of fear and doubt, and the old saying that if you ask 5 doctors you’ll get 5 answers doesn’t help very much when it starts to ring true.

In the end we have to look at where Zoe is right now, and where medicine is right now, and do our best to make the right decision. Hopefully we have.