Today feels like a day to celebrate, a milestone of sorts. Zoe is five months old. She has been alive with her diagnosis longer than she had been living without it.

So much has happened in these three short months. We have bounced around emotionally from shock, horror and despair, to determination and hope. And more importantly we have been able to manage her disease so that we can proceed to the cure.

We are in a hopeful place today. Zoe’s blood pressure has improved greatly. She did very well with her Campath treatment and seems to be doing well on her oral Hydroxyurea this week. We’re crossing our fingers that Zoe’s GFR (kidney function test) result will have improved, as she will be retested tomorrow.

During these three months I have thought a lot about quality of care. I will never forget the conversation I had with the chief resident on the acute care unit of the hospital where Zoe was diagnosed. So many of her tests had come back negative and we were desperate for a diagnosis so treatment could begin. It seemed like Zoe was slipping away from us with each day that passed.

The resident, very concerned about Zoe, told me that he went home at night and cycled the details of Zoe’s case through his head, trying to solve the mystery of her illness. Accordingly, he made numerous consults within the hospital with other staff. Ultimately we learned that it was an ER doc who first made the suggestion that Zoe could have HLH.

So on this special day we look forward to Zoe’s transplant scheduled for June twenty-third. On that day we will celebrate another new beginning.

Dr. M’s Second Visit

Dr. M returned this evening  around 7pm to discuss our status, our next steps and his discussions now 24 hours after our first devastating meeting where we learned the diagnosis. We first discussed Zoe’s current state:

  • Her liver and spleen remain enlarged
  • Her blood count (hemoglobin) came up to 8.6 from 7.9, but her platelets remain low at 15 (15,000)
  • The ultrasound was able to determine that her abdomen is clear and, despite the enlarged liver and spleen she has no other indications of problems or tumors; this procedure also eliminated Neuroblastoma (a tumor on/near a gland as I understand it) as a potential source of her symptoms, leaving only HLH
  • The team of doctors with whom Dr. M consulted on Zoe’s treatment and diagnosis was unanimous in their opinion that Zoe has HLH
  • The team was unanimous in supporting the treatment regimen that Dr. M was to propose

Our next step is Chemotherapy. A nasty word for most adults, particularly those who have family members as I do who have undergone some form of it. It’s difficult to set aside the fear and uncertainty of something like chemo in order to see it as the necessary step for Zoe, but that’s what we must do. Chemo Therapy, a type of treatment using chemicals to combat disease, support the body, and suppress out of control bodily reactions to a disease. Movies and television and life itself imbue words with such negative power that it can be heartbreaking to even consider, but the reality of it is manageable when compared to the alternative — death.

Zoe’s treatment plan follows the agree upon international protocol also known as HLH 2004. This plan resulted from study primarily in European nations which, for whatever reason spend more resources studying HLH and have been more heavily involved in determining a treatment approach.

The Chemotherapy itself consists of 3 drugs, Dexamethasone, Cyclosporine-A, and Etoposide or VP-16. The side effects (or at least a portion of them) are as follows:

  • Dexamethasone: has a steroidal component, will likely cause her to be fussy, hungry and as a result of the hunger result in some weight gain
  • Cyclosporine-A: can cause excess hair growth (including back hair and facial hair, even in infants) and kidney problems
  • Etoposide or VP-16: the strongest of the 3 and the one that requires a central line (implanted IV); causes hair loss over time, can cause cancer (roughly 5% risk), can cause allergic reaction; the risk of cancer from Etoposide is not inconsequential, however Dr. M was adamant that the risks are far outweighed by the benefits.

After discussing the chemo plan, we discussed next steps. Zoe is to begin to receive the first two drugs within 24hrs, and will receive Etopicide once the central line is in. The central line is an implated IV line that is typically put on the left side so as to allow reasonable access to the heart. The line is inserted into a large artery so as to allow any medications to be rapidly dispersed into the bloodstream and allow easy blood draws for testing. This is used in lieu of an IV on an external limb for two primary reasons: first, some medications can destroy the smaller veins on limbs causing complications and preventing proper circulation of the medication, and second to allow less intrusive blood draws for the repeated tests that will be needed to determine platelet count and other statuses.

Next step is to be moved to the Hemo/Oncology ward on another floor where doctors are always available and nurses have specialized training to handle cases such as Zoe. The ward is currently overfull, with some patients residing in nearby rooms instead of that ward, however there is hope that we can move to our long term room in a few days. Around this same time Zoe should receive the central line, and soon after Maya (our 2 1/2 year old girl) will come in for a blood test to determine her viability as a BMT candidate.

We discussed risks again after talking about our next steps. This discussion was much more reassuring and indeed left Michelle and I with hope rather than despair. We’ve come to terms with Zoe’s status to what extent we can after a day, and have begun to try and find rays of hope in our discussions. We greeted Dr. M with our concerns when it came time to talk about the overall treatment, and he was as reassuring as I trust he could be. My statement to him was essentially, we need something to give us hope that this treatment can have a positive outcome. We need to feel that Zoe has a chance, however moderate, of coming through her pain and disease relatively unscathed. We recognize that she has terribly high risks (far more than single digit) of death and disability, but we want to hear her chances for success so there is something positive to hold on to through this.

Dr. M felt comfortable saying that Zoe has a better than average, better than 50% chance of coming through this completely unscathed. Yes, she will see doctors for the remainder of her childhood and yes, there remain chances of large and small complications — but there is also a solid chance for complete recovery and cure. This is what we needed.

The final part of our conversation of the evening was about the BMT, the procedure that had become our greatest fear. Dr. M described a few more details of the procedure, and we told him about a friend who, small world as it is, knows one of the team members on the Pediatric Bone Marrow Transplantation team at Duke. We’ll be put in contact with the team at Duke as we get closer to the BMT, which is estimated to be around the May/June timeframe (2-3 months). We asked after the mortality rate of BMT, and with caution Dr. M gave us the currently accepted number, which is 30% mortality or 70% chance of survival. Obviously an estimate, but one that we can stomach for now.

The factor to be most aware of here is that it is not the procedure that can kill Zoe, it is the aftermath. It’s the chance of infection once her immune system is essentially wiped out and before it can be rebuilt on the back of her sister’s healthy bone marrow. An simple viral infection spurred the expression of this disease, and the same thing can end it all. Frightening.

The Day After

March 11th, the day after the diagnosis was determined was not easy. We spent our time trying to gather information, informing loved ones, and working through the emotions of what having this disease meant for our child and our family. As the day progressed we were able to lift ourselves out of the emotional toil that had claimed us the first 12 hours after the diagnosis and begin to focus on potential positives.

We recognized that this disease is dangerous, and that the treatment regimen would be difficult and had risks of it’s own. The website that Dr. M offered as a resource, cautioning us that the internet in general is a dangerous place in terms of medical information, was helpful. Through we were able to learn a little more and see that there were in fact survivor stories to be had. Our first meeting with Dr. M left us feeling without such hope, not because of his presentation but because of the overwhelming fact of the disease and what it meant. Seeing hope so soon was not reasonable for us, but as time passed and we learned more and spoke to people who were deeply concerned, hope became a more accessible emotion.


We learned that Zoe is likely to have HLH on Wednsday March 10th. The hematologist (Dr. M) who made the diagnosis came into the room around 7pm to talk to us and presented the following information:

  • Zoe currently presents 4 out of 8 signs of the disease, and as Dr. M put it, “half” of two other signs; he feels given this and his analysis that we have about a 95% chance that the disease is HLH
  • There is a 5% chance (these are always estimates of course) that she has Neuroblastoma
  • HLH is very rare, he has seen only 12 cases in his career; I estimate him to be around 50-55 years old. Michelle remembers him saying that the hospical, a major regional children’s hospital, has only ever seen 5 cases.
  • There are two variations of the disease, one that is familial or inherited, and one that is not; both are triggered via infection of some sort. Dr. M feels certain that Zoe has the familial variation due to her age — she would be unlikely to have acquired the other variation so young. They will in time test to be sure which it is, but initial treatment is the same regardless.
  • Zoe will need chemotherapy very soon. If she has the familial variation, she will need a Bone Marrow Transplant (BMT). There is no other method of cure, and the chemo only puts the disease in remission upon success.
  • BMT carries a risk of both neurological and physical complications.
  • The mortality rate of this disease without successful treatment is 100%.

This is devastating news. Michelle and I held out hope that Zoe had a viral infection, a possibility that the other doctors overseeing Zoe’s treatment continued to hold out as reasonable until the end. It was only upon failure of every test short of a bone marrow sample to diagnose the problem that we began to fear the worst.