27 Feb Cincinnati review
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I suppose it’s time I wrote about our trip to Cincinnati Children’s Hospital since we got home almost a month ago! I have put it off for awhile because (1) things have been a bit crazy since then and (2) we didn’t learn much that we didn’t know before the appointment. Frankly, I’m not sure where to start! No place like the beginning, I guess.
We flew out on Tuesday, the 24th. This was Audrey’s first plane ride ever and only Keegan’s second on a commercial flight. I am not a big fan of airplanes, especially small ones. We only purchased three tickets, taking Audrey as a “lap child” (which by the way, is my new favorite phrase…seriously, what is she? A chihuahua?). We got more than a few sideways glances for pulling out the clorox wipes and going over everything in an arm’s radius, not to mention for Keegan’s mask. Overall, the kids did great, and the day went pretty smoothly.
We stayed with a friend of mine from high school, Amy, and her amazing family in a suburb outside of Cincinnati. Talk about making us feel welcome and easing a stressful situation. Keegan and Addie (2 months apart) hadn’t seen each other in over a year but were instant friends once again. I think Addie had a difficult time understanding why Keegan wasn’t talking to her much, but they had a great time anyway. Matt and Amy’s youngest, Jameson, is three months older than Audrey and a bone marrow transplant survivor. It is helpful to have someone to talk to who has lived through what you are facing (bone marrow and solid organ are two vastly different transplants), but to have true friends who are honest and loving and really understand your fears and day-to-day life…priceless. Absolutely priceless. We stayed up way too late each night talking and sharing. Maybe it is a blessing in disguise that we don’t live closer to each other. We may never get anything done otherwise!
Jameson and Keegan playing at the train table
Audrey in the castle
Audrey and Jameson playing.
This one is rehearsal dinner worthy. Heehee!
The simply amazing Jamo
Addie showing us her perfect dance moves
The typical attempt at a group shot.
Audrey was a little less than enthusiastic.
On Wednesday, January 25th, Keegan had his first appointment with the bone marrow transplant team at Cincinnati Children’s. The doctors had done a lot of research on Keegan’s case before we made the trip. They had ordered many different tests on blood we sent beforehand, including looking for known genetic mutations for HLH, had reviewed much of his medical records, and even reviewed the actual biopsy slides from his bone marrow and liver biopsies in Boston. Everyone made us feel extremely welcome. We felt the doctors were very thorough and available to answer questions. Unfortunately, we left with about as many as when we came in. Because as always, there is no clear answer when it comes to Keegan.
The 2004 published diagnostic criteria for HLH, hemophagocytic lymphohistiocytosis, require a finding of 5 of 8 known symptoms. (Click
here for a link to an article describing the criteria that was co-authored by one of the doctors we went to Cincinnati to meet, Dr. Fillopovich, if you are interested.) Keegan has met up to 4 of them for most of his life, and by last summer, he met 6 of the 8. (Click
here to read the post I wrote while Keegan was in the CICU in Boston describing the differences between HLH and MAS, macrophage activation syndrome.) So according to textbook definitions, he has HLH. However, the doctors at Cinci, who are the world’s leading experts in this rare disease, believe that one criteria (soluable interleukin-2) is the singularly most reliable indicator for a true diagnosis of HLH in the absence of a genetic mutation. They do not believe that all the genetic mutations for HLH have been discovered at this time, but Keegan does not have any of the ones that they have identified. He also has normal soluable IL-2 (a protein involved in the immune process) levels, even during “flares”.
Additionally, Keegan experienced a type of coagulopathy (inability of blood to clot) that the team had never seen before in their experience with HLH. Keegan landed in the ICU in Boston mainly due to the inability of his actual bone to stop bleeding after a bone marrow biopsy and aspiration. Biopsies and lumbar punctures are a routine part of HLH diagnoses, which was why it was so important that we obtain the biopsy before starting treatment with pulse steroids at the time. Even with low platelet counts and low fibrinogen levels, there is no danger usually to doing these invasive procedures. Keegan’s platelet levels got fairly low (in the 30-40s), but his fibrinogen levels were actually not detectable and his d-Dimer was extremely, alarmingly high. Obviously, I’m not going to explain all of that here, but suffice it to say, the doctors in Cincinnati had never seen anything like it before.
Given all this, the team was reluctant to call what Keegan has HLH. However, it doesn’t quite make sense to call it MAS either, as he has no underlying rheumatologic disorder. When it comes down to it, Keegan has some type of severe, life-threatening immune system dysregulation that looks an awful lot like HLH. It could be as a result of heart transplant at birth (although there are no other known cases like his in what has become a not-so-unusual procedure) or something he was born with. Not having a true diagnosis makes decisions regarding his treatment more difficult. But honestly, it just puts us right back where we were before our appointment. Knowing what the end result is (dangerous flares of an overactive immune system) but not why it is happening or what the best approach is to stop it.
The ultimate cure would be a bone marrow transplant. Audrey was tested the following day in Cincinnati, but she is not a marrow match for her brother. Gray and I are not matches either, but there are a few possible unrelated matches in the national bone marrow registry. For now though, the team does not want to proceed to transplant. Without a known genetic mutation or abnormal IL-2 levels, they did not want to risk the damage to his heart and overall health by proceeding to transplant. Keegan’s heart transplant makes the decision process much more difficult. Basically, we will have to continue to try available drug therapies until his immune system cannot be controlled anymore. At which point, he would be in danger of going into antibody-mediated rejection of his heart and prevent him from receiving a bone marrow transplant at all.
The only picture I got of the hospital. Oops.
Waiting in clinic to see the doctors and get blood drawn
Audrey – the poster child for blood draws!
She did not even bat an eyelash the entire time. What a trooper.
I know this is very confusing, and I apologize. I think the doctors who are experts in this field are still confused about Keegan, so you can see how difficult it has been for me to put even some of it out here. Ultimately, the “cure” is too dangerous for him right now. Keegan is ironically too “controlled” (and doing ok) at the moment for transplant, and yet, by the time he is in need of one, he will likely be too sick for it. We know we can keep him somewhat under control with large doses of corticosteroids, however they cannot be sustained for long. We will continue to wean the steroids he is on now, and if he continues to flare as the steroids are reduced, more difficult decisions await. We are trying some rheumatology drugs that work on interleukin-1 response (the anakinra he’s on now, and the rilonacept that we will likely try next), which is a different part of the immune response. When those stop working, we will likely have to resort to using chemotherapy over the long-term. Not until then will we be able to reevaluate him for a bone marrow transplant. By then, the antibody production in his body will likely have attacked his graft (his heart, a foreign organ in his body), making him too unstable for the intensive chemo preparation and grueling adjustment after bone marrow transplant.
If you have hung on through this post with me, thank you. What you have gleaned at this time (hopefully) is that we are essentially in a no-win situation with our precious Bug. We have some of the world’s most brilliant minds working to figure him out and helping us to make the best decisions we can for him. In between those decisions, we are trying to treasure the everyday moments, as well as the extraordinary ones. We are holding tight to memories made while he is feeling well and praying every single day that he has years upon years of those moments to come. There are days where the weight of this knowledge bears down on us so unrelentingly that we simply want to give up. We want to beg God to spare Keegan the rest of the journey because we have been warned of how difficult it will be. But we wouldn’t give up a single second of it. We will continue to fight for him and look for answers. For a cure. For hope. But we know where our hope comes from. In Him, we have no reason to fear that the rest of this road will be too much for us to travel. God will carry us the days we can’t go on. And He has surrounded us with family and friends to walk it with us. We cannot thank you enough for that.
