Summer is here, and it’s hard to believe so much time has passed since our last update. Sorry! As time passes it becomes harder and harder to revisit the memories of our experiences and write about them here. In time I’m sure that will get easier. Continue reading
Where have we been? Well thankfully, we’ve had little bad news to report, and for some reason remembering to report the good falls by the way at times. Continue reading
I’ve recently moved this site from its original home where it was part of my personal blog, to its own address at HLHJournal.com. Nothing should have changed substantially, all of the content found there is now in the new location, all links should be intact. I have also updated the look of the site somewhat to give it a cleaner presentation, and to put more of the posts and pictures on the front page. Continue reading
Fall is here, and everything around the house with two young girls is about pumpkins, cupcakes and costumes. The skeleton on the door has a bow in (her?) hair, and plans for turning the little path in our yard into a haunted stroll are well under way. Things are more calm than they have in a long, long time. I believe I had forgotten what calm was like. Continue reading
It’s been a roller coaster summer for us, but we’re feeling pretty confident going into Fall and School season. Zoe had took a few steps back and scared us a bit after a combination of overconfidence and overexposure to sun led to the Very Rashy Beachtrip.
Still, she recovered fairly quickly from that setback, and has since resumed the drawdown of her meds as we continue to work toward weaning her from the big ones. As of now, she continues to take Tacrolimus (and use a Tacrolimus ointment for spot treatments), Prednisolone (nearly done), Hydrocortisone daily, with Septra on the weekends. At least two of the four cause sun sensitivity, which has made for an interesting balance. And, of course, just as we think we’ve got it perfected, Summer is nearly over.
School is a dilemma for us right now. We very much want to get Zoe started, and she’s on track to begin pre-school in a few weeks. We’re going to play it by ear, and thankfully our pre-school has been incredibly patient and gracious with us, saving a spot for she and Maya when needed, and allowing us to step out when necessary during this past year and a half.
Zoe was diagnosed at 2 months, and as such she’s never really had vaccinations that a typical child would have received several times by her age, a year and half. As such she’s going into school essentially relying on the other families to have vaccinated fully to avoid getting sick. It’s a scary thought, and something we’ve worried about quite a bit, but the alternative is to keep her out for another year.
Instead, what we’re going to do is get her started, and then likely keep her out during the height of flu season until she can get her vaccines. She will almost certainly get sick — Maya did when she started school, I suspect most kids do when thrown into the germ pool for the first time — but Zoe’s immune system seems to be getting sturdier. We have to hope she can weather it.
Developmentally, she’s a fireball, and we had nothing to worry about. She’s decided she wants to start potty training almost a year earlier than her sister did. I guess that’s what having a big sister will do, she has so much to watch and emulate. Her vocabulary is growing daily as it should, and she’s stringing words together a little bit now, “nigh nigh daddeh”. She is sitting still for stories more and more, and she wants to be shown how to do things, block stacking, sorting. She’s taken to picking anything she finds on the floor and running to the trash can to throw it away now that she has learned to do that. I’m just waiting for my phone to start ringing from there.
Medically, Zoe’s labs have held up so far. She remains at >98% graft, and her ferritin and WBC counts show no indication of a return of HLH. She just needs to get through the GVH rashes without a serious incident, and we may yet make it through this. We’ve gotten fairly adept now at when and how much she can be outside, so she is able to make it to the pool, on hikes, and on car trips without being overexposed if we toe the line properly. It took a long time to get here though, it seems like.
In the end, we feel really good about where Zoe is. We continue to have our scares, but once we get through them things seem relatively OK. She has survived the transplant, survived at least one cold since then, survived a semi-serious series of GVH rashes, and she is still ok. Now, for the big one: School.
It seems like the nature of treatment that we are never able to quite get clear of things before we have a setback. We progress, things improve, and then something happens and we are back where we were a few months ago in terms of medications and precautions. It IS improvement in a big picture sense, but it’s bittersweet and stressful day to day.
Zoe is back on track now, and our worst fears have been put to rest. She does not have a recurrence of HLH, her graft came back at >98% again, the same as before and a clear sign that her transplant has taken and HLH is gone (forever we hope). The fear of a return of HLH was due to a rash that appeared very similar to an HLH rash, but the chimerism result reassures us that is not the explanation.
She does however have GvHD, which has required her to restart Tacrolimus and go on a short term run of Prednisolone, the old nasty steroid, again. Why she has GvHD was a big point of confusion to us given her chimerism results, so I will do my best to explain briefly.
Zoe has a new immune system, and that immune system is completely donor material. This is the result we want, since her old immune system was dysfunctional and susceptible to HLH. Her new immune system however has not yet come to terms with it’s new home, meaning her old body is still considered a threat to it to some degree. When left unsupressed, her new immune system attempts to fight her old body, causing the rashes and other GvHD symptoms.
We had gotten her off of almost all of her meds slowly over months of weaning, when the rashes started to appear. It seems that she is not quite ready to be off of them, so we have restarted the routine and we’ll see where she is in another 3 months or so.
There is a question of whether or not she will be ready to enter pre-school this fall, but I’ve been told by reliable sources — Zoe’s two teacher-grandparents — that she is too young to need to be in school anyway. Yes it was what we had planned and yes it would be helpful, particularly socially, but it’s not going to hold her back to wait another 6 months or year to be safe.
In the meantime, she is back to looking good and feeling good most days, which is a relief. We are going to finally be able to remove her port despite the complications of these past weeks, so that too is progress. At this point I’m wishing that we had started putting little patches on Zoe’s well-worn diaper bag for each medical scare, not unlike notches in a gunslinger’s holster or emblems on a jet fighter. She’d have them racked up by now.
Where to begin? So much has happened in the past couple of months since my last update. First, an apology for a lack of news for those still following Zoe’s progress. My father became ill in April, and over the course of 2 months was in and out of the hospital. He lost his fight on May 26th, his health was just too poor and immune system too weak to fight off infections. A bitter irony, to be sure.
Michelle and I have been juggling the girls, work, and illness of one kind or another now for so long, it has become our norm. We’re still hoping for that break in the clouds though, when Zoe’s health is clear and the rest of the family remains in good health as well. Oh for the days of just work and family.
Zoe has generally done very well in recent months, with one unsettling exception. She has had rashes that have come and gone regularly, but seemed to get worse as we tapered her tacrolimus, which is the immuno-suppressent medication that she was expected to be on for approximately a year post-transplant. We’ve passed that point and so continued with her taper, but when we actually stopped it, the rashes seemed to get worse to the point where we felt we had to restart.
Michelle and the girls went to Duke on Monday, and their level of concern was high over the rashes. So high, there was even talk of a return of HLH, though we have to believe that’s not possible. The thinking until now was that the rashing was the result of a drug interaction (possibly sun sensitivity, a side-effect of tacrolimus) or something else, perhaps hay fever or an allergy. There is also a risk it could be GvHD.
Zoe’s last chimerism test to determine how much of her immune system is donor and how much was hers was very positive, >98% donor. As I understand the science, this should mean little or no GvHD, which is why everyone has continued to feel the rash was something else. It has proven persistent enough and has increased not decreased, so we have to find the cause.
We’ve ordered a new chimerism and we’re very anxious and scared about the results. Hopefully the result is the same and there is something else going on with her skin. If her graft has begun to dip, things will get much harder for Zoe again. She was due to have her port out in a week — that’s not looking like it will happen yet.
Zoe’s mood is good, she’s had a great few months learning to play with her sister and having new experiences since the end of flu season. She’s been able to play with new kids, visit lots of places she didn’t get to go this past year, and even spend a week at the beach (inside during the day). She looks good, not withstanding the rash, and when she’s not itchy she feels good.
We are trying to remain optimistic that we’re still on course and that this is just a confusing detour. Everything has gone nearly perfectly so far, it would be heartbreaking to have to restart any portion of her treatment, and a nightmare to contemplate another transplant and the huge risks that that would entail. I’ll update again when we have news to share.
“Well, here we are. We’ve come a long way from where we were a year ago, having just learned that our child had a rare condition that might kill her. We fought, she fought, and we’ve made it this far, and things appear to be improving as each month passes.”
I began writing this post a few days ago, thinking I could get it ready and put it up on the anniversary of her diagnosis. What I wasn’t prepared for is how strongly my emotions about the day would become as it approached, making what I wrote simply insufficient.
Zoe had her first birthday January 10th, and it was a joyous occasion, but it didn’t compare to today somehow. We all go through traumas of one sort or another in our lives, no one is really exempt, it’s more a matter of degree and timing, and what these events make of our lives. This past year has come to be the most important in my life so far I now realize, but I don’t think I realized it as it happened.
When I look at Zoe these last few days, I tend to tear up — not in sadness, but in wonder. I still can’t believe some days that we’re so lucky as to still have her. My wife and I go back and forth about how her life was saved — did we have a hand in it? Did our pediatrician earn his wings that day he made us go to the hospital? Was it the emergency room doc at WFU who just happened to give his input and start the chain of events that gave us our diagnosis who saved her? Was it Duke’s amazing transplant program? Obviously it’s a little of each. What’s certain however is that there is a degree of luck involved in it all, and I’ve come to believe that our role was to improve her odds as much as we could, to load the dice, giving her a shot at life.
We put all of our energy into learning about the disease, the procedures, the drugs, did our best to have a crash course in anything that could potentially improve Zoe’s chances. It’s impossible to say how much any of it mattered I suppose, but being involved mattered a great deal to us. We look at Zoe today and we are brimming with love, hope and pride by turns. It’s an amazing feeling, but it may take the rest of our lives to figure out what happened this year.
Where are we now?
Zoe is a vibrant, smart little girl. She’s walking, using her first words, babbling, climbing ladders and couches, diving off beds and rolling around on the floor with her sister whenever she gets a chance. She seems to be progressing exactly as her sister did, which is to say, perfectly normally.
She still has a med routine, she still has clinic visits, she still has a port running directly into the veins in her chest for blood draws, and she still is quite limited in what she can do. She cannot be around large groups of people, she can’t go to malls or the circus or farms where there is exposed debris and livestock. She has to be kept in the shade most of the time, as going in direct sun sets can cause a rash very rapidly. We have to limit who can visit our home so that we can be sure we’re not introducing any colds or flu to her “safe” zone. But, each day takes us closer to the day when she doesn’t have any restrictions and we don’t have any fears about her health.
Zoe had her most recent clinic visit on Monday, and it held a pleasant surprise — we’re switching to every-other-week clinic visits. We probably could have done so before, but we’ve had a rough time stabilizing her tacrolimus, and with the little rash scare she had awhile back we just never cut back on visits. The doctors at WFU feels she is ready now though, they have no concerns and feel her numbers are good. Her WBC is at 7.9, and her Platelets are 262, both really rock solid at this point.
Her IgG count has been dropping, but remains in the normal range. This is a count that gives us an indication of her antibodies, and she periodically gets a boost to them — her last boost was at the start of the year.
We have been weaning her off of her steroid and she is now down to a tiny dose, to be off completely soon. Zoe is currently at 40th percentile for weight, and 40th for height, which are just fine — she should be able to catch up to her norm in time.
In general we are just incredibly pleased by how things are going. It can be stressful at times still, but each month that passes brings us further and further away from the really dark times, and closer to a feeling of security with her health. It’s hard to believe looking back on where we were a year ago that we’ve made it so far.
The rooftop playground at the Brenner Children’s Hospital:
The last couple of months have been hard in other ways. Not because we have had any major complications ourselves, but because we’ve heard mixed or bad news over the course of flu season from several other families we’ve been following, or who were being treated as we left the hospital with Zoe. Hearing about a child passing due to complications from HLH or a similar condition is just devastating, and each time it happens we have to take stock of where we are and how grateful we are. We get to share in the victories as well, but there are too many children still fighting losing battles out there.
When you are thinking about what you can do to help, there are several options. You can support organizations like Bonemarrow.org, Histio.org, and the various foundations set up by parents to raise awareness about a particular disease.
You can also try to keep in mind that policies being enacted in various states have real consequences, and that if you are in a state where procedures like transplants of the type that saved Zoe are being limited or even removed as an option for some families, you can contact your Senator, Congressperson or other representative to voice your opinion.
Throughout this process I’ve spoken to folks who live in the U.S. as well as many who don’t, and hearing as I have several times from someone who lives in a country that doesn’t have the medical resources to treat HLH properly is saddening on a very deep level. Their options are terribly limited and this disease is relentless.
We in the U.S. have the technology and resources to treat these kids, and yet in some states we’re saying to them that we won’t if a family has the wrong insurance or is on Medicaid. No one deserves to die because they can’t afford a transplant out of pocket, and I hope those of you who read this will remember children like Zoe when it comes time to decide where budgets should be cut.
Zoe had her 6 months post-transplant studies recently, I wanted to offer some of those numbers for families who are looking for another marker in where HLH kids might be after that amount of time. Obviously every child is different, and each has their own set of struggles that might be different from the next, but I believe that more publicly available information is helpful. I’ll go over some numbers, and then offer a reference point for them in parentheses so that you can see where she falls.
- Ferritin: 95 (7-91 normal) – This is the marker that helped diagnose Zoe’s HLH originally, it was up around 5000 at that time; it has since returned to normal
- Cortisol: .5 (5-25) – Her Cortisol level is low, and we’ve consistently had a hard time raising it; she receives Hydrocortisone multiple times a day, but were she to get sick in any way she would need “stress” doses to help her fight
- Vitamin D: 15 (30-100) – Her Vitamin D level is also low, perhaps in part due to it being winter and in part due to her limited outside time, in addition to consequences of her treatment; she receives Poli-vi-sol vitamin supplements each day, but she will be starting a further supplement next week
- FK-506: 4.4 (5-20) – Tacrolimus is a little low, we’ve been working to get it up without raising it too quickly
- Magnesium: 1.8 (1.9-2.6) – On target, a little low perhaps; if you are a regular reader you may recall that Zoe takes Magnesium supplements due to consequences of her treatment and being consistently low until recently; restoring these levels naturally takes a great deal of time without an oral supplement
- Sodium: 137 (134-146) – Good
- Hemoglobin: 11.8 (10-13.5) – Good
- Platelets: 327 (150-400) – Good
- Bilirubin: .5 (.4-1.5) – Good; Zoe never had any danger with liver function that we know of, we are lucky; some transplant families have to watch this number closely for awhile
- Creatinine: .2 (.1-.6) – Good; her kidney function appears to have returned fully after a scare pre-transplant
- WBC: 8.1 (3.8-14) – Excellent! One of the items we all watch most closely post-transplant; Zoe has not dropped below 6.0 for awhile, we’re very excited about her stability here
- Engraftment Analysis: >98%, no pre-transplant recipient cells detected; This means that, based on the test used, Zoe’s marrow is still greater than 98% donor, as it was at her first test post-transplant; We’re right where we want to be on this test
- General Mental Status: “Alert, Smiling, Age appropriate in speech and responses”
Beyond that, developmentally, Zoe is on the cusp of walking. She’s been crawling for a few weeks, started cruising after a week or two of crawling, and is now trying to stand freely. She is babbling quite a bit, knows how to say Mama and Dada and Aya (Maya), as well as a few other “words”. As best we can tell, she is doing great. Her first birthday is on Monday, January 10th.
We’ve had quite a few bumps post-transplant, some of which have come and gone fast enough that I didn’t document them here, but nothing life-threatening or indicative of a return of HLH.
Our task now is to keep on keeping on: keep ourselves and our 3 year old illness free by avoiding iffy situations during cold/flu season, and thereby keep Zoe healthy; get her Cortisol and Vitamin D levels up, and maintain her other meds. In another 6 months we hope to be done with most of her current medications, though it is possible she may continue to need supplements. Go Zoe!
We began the year with the birth of our second daughter, Zoe Elise, and very quickly it took a turn for the worse. When Zoe was nearly 2 months old, our toddler brought home a nasty virus from pre-school, and it made it’s way through our family until finally, after holding out for a week, Zoe started congestion and a mild fever.
Within a few days the fever began to be noticeably persistent and other warning signs began to appear, and through a back and forth with our Pediatrician, who insisted, we took her to the hospital. What began was our nearly year long ordeal with HLH. It took several weeks to bring the disease under control, but thankfully she was able to be diagnosed incredibly early, which we now know probably saved her life. The longer HLH goes undiagnosed, even a matter of weeks, can result in damage to the body that is hard to recover from.
Zoe had her early treatment at Wake Forest University Hospital and then was released for a brief window as she was prepared for her lifesaving Stem Cell transplant to replace her malfunctioning immune system with that of another child via umbilical cord blood stem cells.
Over the summer she endured a preconditioning regimen of chemotherapy to destroy her existing immune system, received her transplant, and spent the waning days of summer in a hospital bed being fed through a tube on a pain management system.
By the fall she was released, doing well so far, and we began our stay in Durham where we were required to stay close to Duke University Hospital for her constant clinical visits. After a time there, just as Winter was ready to begin, we were released to go home.
Everything about this process has gone as well as it could for us I believe, given the possibilities. We are lucky. Extraordinarily lucky. There are families who I follow regularly now who continue to endure aspects of this experience, with HLH and similar disorders, as their children literally fight for life. My heart goes out to them every time I check in. I’ve teared up many nights as I read an update online, posted at 1 or 2am, knowing what it’s like to be sleepless and helpless in that hospital room with a child struggling nearby and machines beeping all night, like the tap tap tapping of a raven. It is one of the many, many, “secret” diseases that families endure when struck by them, but which the greater public is largely unaware of.
By now, we are beginning to see what life might be like next year, a year that we have high hopes for. We are looking forward to our older daughter, who has grown up so very much this year, returning to school, which she can’t yet because of the risk of disease. Just this morning over breakfast she said “we’re all back together again Daddy”, which she says often now that we are. She had her own hardships this year, we know. Hopefully they’ll give her character, and she is certainly deeply attached to her sister already.
Zoe for her part won’t remember much of this, but she will have lingering effects, a sort of PTSD. She is already very nervous when men she doesn’t know (in particular) lean in toward her, she panics and start crying in a clear response to the doctors who she must have learned to fear. People in white coats tend to set her off when they enter a room. It’s heartbreaking. But, she is alive. She is getting healthy. She is growing. We are grateful.
This Christmas is special for all sorts of reasons, but it will be memorable for us as a turning point in our lives as a family. Among our gifts this year was a special one I wanted to share.
Maya’s Great Uncle Charles took particular interest in how she was doing this year, he seemed to see that she might be having a hard year being taken out of school, transported all around and kept from a normal childhood routine as we worked through Zoe’s disease.
He commissioned a wonderful doll house for her(and for Zoe when she is older) from a local crafts person, which we received on Tuesday just before Christmas. Maya was ecstatic, as were we — it is really an amazing gift and will certainly be an heirloom. I wanted to post a little video we shot of it and the person who made it explaining it to her by way of thanks. We, and (more importantly) she, will treasure it.
With regard to Zoe’s medical particulars, let me offer a quick update on that front. Her WBC counts have climbed a little more, she is now holding at 8.1. Her last was closer to 6, and she seems to be holding in the low normal range now. Her Creatinine, Bilirubin, Sodium, RBC, Platelets — all are normal.
The GVHD rash she had recently has passed, and though she immediately plumped her cheeks back up in response to the steroids she had to restart, we are relieved that it went away without major consequence. We’re weaning her off of the steroid again even now. Her Tacrolimus level had been low recently, perhaps in response to her metabolic changes while growing and getting more physical, and we suspect that is a contributor to the rash.
With regard to her physical development, she is moving right along. She started crawling within a week of my last post, and she’s already beginning to cruise a bit (moving along things while standing). The night before she started crawling in full, when we could see she was close, Michelle, Maya and I all started doing laps around the den on our hands and knees in a big circle around Zoe. We like to think we inspired her
Her strength has really improved and she’s into absolutely everything she can find, as she should be. Her sister follows her around the house excitedly and loves to have her nearby when playing. Zoe is in the 50th percentile range for both weight and height.
I’d like to wish all of you a Merry Christmas or Happy Holiday. We have really loved getting to speak to so many new people and meet wonderful families this year, despite all of the hardships. Your support in comments and advice both privately and publicly has been a boon to us, and we thank you.