A Medical Mystery

Over the last week, a team of doctors have been trying to determine what is wrong with Ryan’s bone marrow, but so far we don’t have a new diagnosis.  The two theories are that it is a very atypical case of Aplastic Anemia (AA), or that it is Myelodysplastic syndrome (MDS) that is presenting in an atypical way.

Either way, he still needs a bone marrow transplant, but the pre-transplant conditioning (chemo and radiation) is very different for each condition.  If they transplant him as Aplastic Anemia and he has MDS, then the MDS can come back, or the transplant can fail.  If they treat him for MDS but he has AA, then the conditioning can be too toxic.

The transplant team is working with Dr. Shimamura and Dr. Ho (researchers and leading genetic experts at Fred Hutchinson Cancer Research Center) and the attending physician has assured me that Ryan is their #1 priority right now.

Ryan already had extensive genetic testing that all came back negative for any abnormalities.  However, they have ordered even more genetic testing. Basically, they are now testing for the rarest of rare genetic mutations.  The goal is to try to confirm MDS.  Unfortunately, the tests generate so much data that has to be analyzed by a human, that results take 6-8 weeks.

I feel like we are in the best hands at SCCA, probably better than anyplace else we could be. The best of the best are searching for answers.  However, I had to do my due diligence as a worried mom, and I reached out last week to one of the other leading bone marrow failure and transplant experts in the country, Dr. David Margolis of Wisconsin Children’s Hospital.  I sent him an email and Ryan’s case must have intrigued him because he promptly returned my e-mail and we were talking on the phone within about a half hour.  We went over Ryan’s history and he reassured me that Ryan is in good hands.  He did say that AA normally does not progress to MDS so quickly. He has since discussed Ryan with the SCCA team and then followed up with an e-mail to let me know that he feels that the Seattle team has done a thorough work-up and that he agrees with their thought process.

One of the SCCA doctors leads a non-malignant disease board that has top experts from eight institutions across the country (including Dr. Shimamura and Dr. Margolis).  Ryan’s case will be presented to this board next week for discussion and to solicit any additional thoughts that other experts may have.

Last night, we had to make a “go no go” decision.  The team was very honest and told me that the SCCA team had discussed Ryan earlier in the day and some of the doctors said “go to transplant now” and others suggested waiting for the test results to come back.  They told me that if I told them to do it now they would.  The benefit of going now would be that the prognosis is generally better with bone marrow failure diseases the earlier you go to transplant.  The down side is that they would be inclined to use the high dose chemo and radiation in case it is MDS.  They said the high dose conditioning is less risky than having to go to transplant a second time if the first transplant fails.

Brad and I discussed it, and at the end of the day, we made a slight negotiation with the doctors.  We will wait for the test results to come back, but we will do another bone marrow biopsy in a few weeks to make sure things are not progressing to something worse.  The deciding factors for us were:

1)     We would prefer to have a diagnosis and know what we are trying to treat.

2)     If we wait 8 weeks, flu/virus season should be mostly over and the transplant risk would be a little lower.

3)     If they can assign a definitive diagnosis of MDS, Ryan may qualify for a current Fred Hutch clinical trial with less toxic chemo/radiation but still using the chemo drugs for MDS not AA.

Today was our last day at SCCA until the first week of April.  SCCA already has Ryan’s 2^nd “Arrival” scheduled and there will be no further testing to try to determine a diagnosis.  By then, he will likely either have a diagnosis of MDS or remain a medical mystery.  Either way, he will still be getting a transplant.

Our last day at SCCA was a long one.  The Seattle Seahawks Superbowl Parade was nearby, so we left at the crack of dawn to beat traffic.  It is now into the evening and we are ending the day with a platelet transfusion.  Actually, the second transfusion of the day.  For the first time, Ryan had a reaction to the donor platelets.  He puked three times and then developed a rash and hives on his face.  They had to do a bunch of testing on the platelets and on Ryan.  They also gave him anti-nausea meds and benedryl. Then, we had to wait a few hours for a new bag of platelets from a different donor.  Here is a picture of him on transfusion #2, finally asleep.  He is wearing his Seahawks shirt.  We were there in spirit today! Go Hawks!

Seven Months Post Diagnosis: Ryan is just a few days away from being admitted for a bone marrow transplant, but things have changed…

I haven’t updated Ryan’s blog for awhile because I have been posting more frequent updates to his Facebook Page (www.facebook.com/plateletsandpuppydogtails).  However, I know there are some people that are not on Facebook (or are not aware of Ryan’s page), so I will try to update here more frequently.  To catch up, I am copying the last several Facebook posts below (most recent first):

January 29, 2014

SCCA Day 7 – Not Aplastic Anemia???

The results of Ryan’s double bone marrow biopsy came back right before our appointments at SCCA started today.

We were in the exam room waiting for the transplant team. I was browsing Facebook and read that a little girl named Gabby lost her battle with Aplastic Anemia today. Bone Marrow Failure diseases in young children are very rare, so as far as numbers, there are not many families out there in the world going through this. However, we have slowly been finding each other through social media and we share in both victories and tragedies. I think we all take it personally when one of our AA families is suffering. I was already teary-eyed by the beautiful post written by Gabby’s mom about her final moments, when Ryan’s doctor entered the room today and delivered another blow to our family’s battle.

Ryan’s bone marrow cellularity is normal and Aplastic Anemia is not his current primary diagnosis. What??? It sounds like great news, right? It’s not. Because of his continued low blood counts and dependency on transfusions, it just means there is something else going on. Even more scary – they don’t know what that is!

One theory is that Ryan’s condition has progressed to a Myelodysplastic syndrome (MDS). MDS is not a single disease but a group of diseases that affect blood-cell formation. About 80 to 85 percent of people with MDS have more cells in their marrow than healthy people do (hypercellular marrow). But these cells do not live long enough to make it out of the marrow into the bloodstream, or they are not in circulation long before they die. As a result, people with MDS have low levels of one or more types of blood cells in their bloodstream (cytopenia). MDS used to be called “Smoldering Leukemia” or “Pre-Leukemia”, because in a third of patients, it progresses into a fast-growing cancer of the bone marrow cells called acute myeloid leukemia (AML). It is usually a disease of older adults, not children. When children are diagnosed with it, it is normally due to something genetic.

None of the bone marrow biopsies done so far have shown any signs of MDS, including the one done this week. In fact, the bone marrow does not show signs of dysplasia (cells of abnormal shape or size), which is normally one of the factors used to diagnose MDS. (Although, after I got home, I remembered a few of Ryan’s past blood tests noting teardrop shaped red blood cells and cells of differing sizes. I plan to mention this to the team tomorrow.)

The team is consulting with Dr. Akiko Shimamura, one of the leading bone marrow failure experts in the world, for potential answers. They have decided to do some more in-depth testing for MDS. The tests should take about 2 weeks, which means that Ryan’s transplant is delayed.

The transplant team believes that, regardless of the cause of Ryan’s illness, it is still clear that he needs a bone marrow transplant. If it is MDS, there is a high risk of it going on to a deadly form of leukemia without a transplant. I asked “What if the additional tests come back negative for MDS?” The team stated that it would be a really unsatisfying situation in which they do not know exactly what is going on, but they would still think it is somewhere on the MDS spectrum and they would treat it as MDS. This means that Ryan would no longer be treated with the lower dose pre-conditioning regimen that is used for Aplastic Anemia patients. He would be treated with much stronger chemotherapy and may even require high-dose total body irradiation instead of the low dose.

In the meantime, I also learned today that Ryan’s donor has asked to have his marrow harvested earlier because he couldn’t be available on the specific date they had originally requested. He wanted to move the transplant up a few days, but now the team is going to have to ask him to delay it by two weeks. I hope the donor will still be available.

I managed not to cry in front of Ryan. For the first time, I almost did, but I managed to hold it together. He was watching a movie with headphones on and had no idea about the conversation going on around him. I have yet to cry at any of his appointments. I have teared up, but I always remind myself that it probably would scare him to see me so worried. Halfway through the drive home, I glanced in the rearview mirror and he was asleep. I burst into tears.

January 28, 2014

SCCA Day 6 – Radiology Oncologist, Platelets, & Dentist

Today was kind of a bummer. The day started at the University of Washington Medical Center for a consultation with Radiation Oncology. This is where Ryan will receive total body irradiation (TBI). The doctor went over all of the possible side effects, which include, among other things, an increased risk of developing tumors, mouth sores, skin sensitivity, dehydration and infertility. I was already aware of the risk of infertility, but I thought it was a 50/50 chance. Maybe that was wishful thinking on my part. The doctor stated that we should assume there is a 100% chance of it. That was hard to hear. Boys post-puberty have options to bank sperm. Adult patients are able to understand the risks and make decisions about treatment. At age 5, Ryan doesn't understand and he doesn't have a choice. It’s another thing this illness is taking away from him, and it makes me angry and sad. Also, something the doctor said about possible gland and cheek pain upset Ryan and he jumped off the exam table and buried his face against my shoulder for the rest of the appointment.

That appointment set the tone for the rest of the day. Ryan needed platelets, so we returned to SCCA. Since his porta cath has been accessed so much lately, the dressing (big plastic tape) they put over it has created a large rash on his chest. It hasn’t bothered him until today, when they used cleaner on his chest before accessing it. It must have burned! Ryan’s face got bright red and he was clearly upset and on the verge of tears. Then he told us it was hurting. The nurse was very kind and worked to reschedule some lab work that was supposed to occur tomorrow, so that he doesn’t have to have his port accessed again until Friday. Hopefully his skin will heal up quickly.

We then went to Seattle Children’s Hospital for a dental consult, but Ryan was ready to be done for the day. He was not a happy guy and initially refused to sit in the dental chair. He just went to the dentist a few weeks ago, so all they did today was look at his X-rays, confirm there are no cavities, and talk to us about mouth care during transplant.

The icing on the cake today was when we left the University of Washington and headed back to SCCA. I stopped to get gas, which put me coming from the opposite direction of what I am used to. I was still pre-occupied thinking about the radiation side effects and accidentally got on the 520 floating bridge over Lake Washington, going AWAY from Seattle. I had to go all the way across the bridge, exit, turn around and go back over the bridge heading toward Seattle. This only cost us about 5-10 minutes total, but they recently made this a toll bridge! That little mistake cost me $8.00!

January 27, 2014

SCCA Days 3 & 4 – A Day at Home, Followed by PT, EKG & Echocardiogram

Since Ryan’s bone marrow biopsy was scheduled for last Thursday, but was postponed until Monday because of the cough that his virus caused, we stayed home and I caught up on reading the sea of paperwork I have been handed the last few days. There is a 3-ring binder that is an inch thick with nothing but authorizations that we need to read and sign. There are also a couple of binders full of information regarding the transplant process, infection control, medication, nutrition, graft verses host disease, etc.

Friday, Ryan met with a Physical Therapist to assess where he is currently with strength, balance and coordination with fine motor skills. The PT will follow him over the next year to make sure he doesn't lose any of his current abilities.

He then went for an EKG and echocardiogram of his heart. He was ready to be done for the day by the time the echocardiogram appointment rolled around (and so was I)! The technician informed us that it would take 60 minutes, if Ryan didn't move, and a lot longer if he couldn't sit still. I was worried that we would be there for three hours with me having to remind him every 5 minutes to keep still. Instead, he was such a good sport. He asked me to lay in the bed with him and we watched The Incredibles while the technician did her thing. I only had to remind him to be still twice and it was during times when the technician got the ultrasound wand to close to his porta cath, which he did not like (I can’t blame him). Ryan had a ton of questions about the ultrasound equipment, where the pictures go, and if the doctor could see the pictures while she was taking them. She said she normally doesn’t get such detailed questions about the equipment from someone his age and asked if anyone at home is really into computers. Yep, that would be his Dad, who is in the IT business.

January 21, 2014

SCCA Day 1 – Ryan’s “Arrival”

Ryan had his “arrival” at Seattle Cancer Care Alliance (SCCA) today. From now until the first week of February, when he gets admitted to the hospital, he will have appointments with SCCA just about every day. He will have various physical exams, continued transfusions, new medications to start, an EKG, a Lung CT scan, another bone marrow biopsy, a dental exam and regular blood draws/labs to check for all sorts of things. We will also have conferences with the transplant team, a consultation with a radiation oncologist, and meetings with social workers, nutritionists, and physical therapists. There will also be several classes to learn about things such as food safety for transplant patients and preparing our home for Ryan’s return after transplant.

We will be bouncing between the SCCA facility, Seattle Children’s Hospital, and the University of Washington Medical Center for all of this. We received a printed schedule with each appointment, the time, and where we need to be. I felt like it was the first day of high school or college and I was racing between classes trying to figure out where I needed to be!

Holy cow – they took so much blood today for testing! There were 14 full tubes, plus a huge syringe that they filled to the top with 20 mls of blood! As his reward at the end, the tech let Ryan squirt him in the face with two full saline syringes. Ryan loved that! We managed to squeeze 20 minutes in for lunch today. Tomorrow, Ryan will be getting a red blood transfusion first thing in the morning and it will be an even longer day!

December 31, 2013

THANK YOU!

As 2013 winds down, I have been reflecting on Ryan’s diagnosis this year of life-threatening bone marrow failure and the whirlwind of the last 6 months. While this has probably been the most difficult year of our lives, it certainly could have been much worse without all of the support from friends, family, co-workers and, in some cases, complete strangers. We had two months of meals prepared by co-workers, gifts for Ryan, donations that helped us pay our 2013 health insurance deductible, phone calls, texts, cards, and kind words said in passing. When Ryan was at his weakest after chemotherapy and was getting tired walking, we even had a big kid stroller show up on our doorstep. I have continued to work (mostly) full time and am very thankful for the patience my coworkers have had with me as I come and go in between appointments, call into meetings, work remotely, and try to juggle my work responsibilities with my mom responsibilities. Thank you everyone for helping make 2013 a little less horrible for us!

December 20, 2013

The Transplant is a Go

Ryan's doctor is giving the green light today to proceed with the bone marrow transplant. He definitely feels it is time. Although this is a scary next step, I am glad to have an action plan and am filled with hope for this potential cure. We don't yet have an exact date, but it could be as early as mid-January. In the meantime, Ryan burned through all of his transfused platelets last week and is getting another transfusion today.

December 13, 2013

Quick Update

Ryan may receive a bone marrow transplant as early as January and we have some great news about a possible donor.

I am a little behind on updating Ryan’s blog, but wanted to pass along that we have met with the doctors at Seattle Children’s Hospital, and also had our transplant consultation at Seattle Cancer Care Alliance. All of the doctors are recommending proceeding with transplant, subject to a couple of genetic tests that are still outstanding and another bone marrow biopsy. His last biopsy showed some increased cellularity in his bone marrow, but those results just don’t match his continued regular dependence on blood and platelet transfusions. The doctors seem to be of the opinion that the last biopsy likely just hit one of the few “good” spots in his bone marrow (bone marrow can be “patchy” in patients with Aplastic Anemia).

The most desirable unrelated donor for a transplant would have the same 10 HLA tissue types as Ryan. This is called a 10/10 match. Sometimes people have to go to transplant with a 9/10 match or even a “half match” from a parent. However, the best chance of survival, with the lowest rate of complications, generally comes from a 10/10 match.

I have heard of so many patients not having a single viable match in the registry, or only having one or two matches, then having to wait on pins and needles to find out if those individuals will truly donate. This has been a major worry for me over the past few months and, even though Ryan was HLA typed in September, I couldn't seem to get the specific results from anyone. The doctors just kept saying that they didn't think they would have any problem finding a donor. Finally, this week, we were sitting in the transplant consultation and the doctor had a thick file on Ryan and turned to a particular page. She asked “Has anyone told you how many potential donors Ryan has?” “No, I have been trying to find that out…” She proceeded to tell us that three of Ryan’s tissue types are very common in the general population and that he has multiple potential donors. I looked at the page that she was turned to and I saw a computer-generated list that had about 20 entries on it with a hand-written note next to one of the lines that said “10/10”. I asked “Are all of those 10/10 matches?” She confirmed they are all 10/10 matches! What I didn't realize at the time was that the rest of the thick file behind that page was a continuation of the list. In speaking with the donor search coordinator the next day, I learned that Ryan has 3110 10/10 matches in the registry!!!! Yes, that is four digits!!!!

While I am grateful beyond words that we have so many options for donors, my heart aches for the families still searching for just one. Please, please, please register at bethematch.org if you haven’t already!!!

This week, the donor search coordinators started calling some of the potential donors within the continental U.S. to ask them if they are willing to donate, and to set up further testing on them. It is so humbling to know that complete strangers are being called up right now to save Ryan’s life.

November 22, 2013

A Second Bone Marrow Biopsy

Ryan’s bone marrow biopsy yesterday was fairly uneventful. He was such a trooper. Our appointment started at 8:00AM. He couldn’t eat breakfast due to the anesthesia, and his procedure wasn’t until almost 11:00. I went prepared to hear him say “I’m hungry” a million times throughout the morning while we were having labs done and meeting with the doctors, but he didn’t say it once. Then, as he was waking up after the biopsy, he looked cold, so I asked him if he wanted his blanket. His immediate response: “I want some food!”

While we were there, we met again with one of the doctors/researchers that we saw last week. He had discussed Ryan’s case with the other researcher and Ryan’s Hematologist/Oncologist. All three doctors agree that, unless the bone marrow biopsy shows signs of recovery (or Ryan goes into remission all of the sudden), the right thing to do is to move toward transplant. We should have initial biopsy results in about a week and our consultation with the Seattle Cancer Care Alliance transplant team is still set for December 9th.

Four Months Post ATG: Only a Tiny Improvement in Platelet Count and More Tests are Pending

Well, we are between months four and five post ATG at this point, but I held off on posting because I was hoping to have more information to share.

We have seen a very slight improvement in Ryan’s platelet count.  And by “improvement”, I mean that we have been able to space out the time between transfusions just a little bit.  He was requiring platelet transfusions each week, up until Halloween day, when we went to his clinic appointment expecting him to need a transfusion, but his platelet count was 32,000.  As a reminder, a normal platelet count for a child Ryan’s age should be 250,000-550,000.  Even though 32,000 is well below a normal range, doctors do not like to transfuse until a patient is around 10,000 in order to limit the number of transfusions they receive, which can increase antibodies in their system and, among other things, increase the risk of bone marrow transplant rejection and graft verses host disease (GVHD) if the patient later has a transplant.  Anything under 10,000 is considered in the “danger zone” where there is a high risk of hemorrhage.

So, we skipped a transfusion on Halloween and the doctor decided we could wait another week.  Within a few days, I started noticing petechiae (red dots that indicate low platelets) under Ryan’s Eyes and bruises on his arms and legs.  By the end of the 2-week period his platelet count was down to 6,000.

A week later, we finally were able to have our appointment with the doctors from Fred Hutchinson Cancer Research Center in Seattle.  The two doctors we met with specialize in, and research, bone marrow failure diseases.  I was a little bit disappointed because my expectation of the appointment was that the doctors had already received all of the tests Ryan previously had and that they would be making a recommendation regarding whether we should pursue a bone marrow transplant.  Instead, we were basically starting over with new doctors - answering questions, giving family history, etc.

They told us they wanted to do several more genetic tests and a new bone marrow biopsy.  They also asked our permission to map Ryan’s genome, which I think is really cool and I am curious to know if any new information comes out of that (although we were told that sometimes they get information that they don’t know what to do with).  One of the reasons for all of the genetic testing is that, if they do find something genetic, and Ryan does proceed to transplant, it could help the transplant team determine the pre-conditioning regimen.  Certain chemotherapy drugs can be more toxic if you have certain genetic conditions.

The doctors were great to speak with; it just wasn't what I expected the appointment to be all about. The lesson learned for me is to ask more questions in advance about what to expect. I had created an entire page full of questions about the transplant process, but that just isn't at all why we were there.  At the end of the 5-hour appointment, they took about 10 vials of blood for various tests and scheduled a bone marrow biopsy for November 21^st (tomorrow at this point).  Ryan’s platelet count that day was 25,000 so we were able to skip another platelet transfusion.

I tend to report a lot on Ryan’s platelet count, and that is because platelets are basically the first thing to go.  They only have a lifespan of about 6 days, where red blood cells can last about 35 days.  That is why platelet counts can go up and down so quickly.  I should mention though, that there has also not been much improvement in Ryan's white and red cell counts.  Ryan is still requiring red cell transfusions about every 3 weeks.  White cells cannot be transfused and his remain below normal.  One of the other numbers I pay attention to is his neutrophil count.  Neutrophils are a type of white blood cell that fights off infection.  The normal range for Ryan should be 1,500-8,500.  He had a few weeks where his went over 1,000 but they keep dipping back down.  He has been running in the 700-800 range lately.

Ryan ended up not getting platelets last week like we thought he would, however, by the weekend, it started to show.  He had invitations to birthday parties on both Saturday and Sunday, and I decided not to tell him about either one.  I knew he would want to go, but I was worried that he would get hurt or pick up germs at the events, which could easily lead to a trip to the ER.  One party was at Chuck E Cheese and the other was at a Little Gym.  I felt bad that he had to miss out, but I decided not to risk it.

Then, Saturday, he accidentally whacked himself with a lightweight bamboo back scratcher and it gave him a black eye.  This was followed by two other minor bumps while playing that resulted in bruises on his forehead.  The level of impact from these “accidents” to a person with a normal platelet count probably would have either left a slight red mark for a few minutes, or no mark at all.  But, when they happen to a Ryan, with low platelets, they result in him looking a little beat up.  Here is a picture of his eye:

What’s next?  

Tomorrow Ryan will have a new bone marrow biopsy.  The only other bone marrow biopsy he had was when he was admitted to the hospital at the time of diagnosis (June 24, 2013).  They will be looking for any signs of improvement and also any signs of other concerning items in his remaining cells such as PNH clones, MDS, or Leukemia.

One of the main things they look at in a biopsy is “bone marrow cellularity”. Cellularity is basically the percentage of bone marrow that contains healthy cells as opposed to adipose tissue.  At birth, cellularity is approximately 100 percent and then declines with time as people age.  Cellularity in a healthy adult is approximately 50%.  Cellularity in a healthy 4-year old should be around 70%-80%.  Ryan’s cellularity in June was less than 5%.  Here is what the bone marrow of a person with Aplastic Anemia looks like in comparison to healthy bone marrow:

Bone Marrow of an Aplastic Anemia Patient:

Healthy Bone Marrow:

After the biopsy, we will continue our regular weekly clinic visits and then have a consultation on December 9^th with the Seattle Cancer Care Alliance Transplant Team.  This is the appointment where we will hear about Ryan’s test results, options for bone marrow transplant, discuss all of the risks, worst case scenarios, etc.  We will get the results of the “World Book” search (international bone marrow donor search) and find out if Ryan has a potential donor.  We will also meet with a financial counselor (because, as you can imagine, it is expensive and there is quite a bit out of pocket that is not covered by insurance) and, last, we will tour the facility.

Please continue to keep us in your thoughts and prayers.  Although this journey has already felt very long, I fear that it is only really just beginning.

We celebrated a birthday this past week!

We threw caution to the wind and allowed Ryan to celebrate his birthday at, of all places, a bouncy place, where there were plenty of opportunities for him to bump heads with other kids, potential germs all over the place, and 30 foot inflatable slides sure to generate friction burns.

He survived.  And, he got to be a normal kid for a day.

Happy Birthday Buddy!

Three Months Post ATG: Still No Major Signs of Improvement

We seem to have settled into a pattern over the last month.  Ryan receives platelets each week and then by the following week’s appointment his platelet count is back down around 10,000.  He is also continuing to require red blood about every 2-3 weeks and his bruising is increasing to a similar level as to when he was first diagnosed.

My gut is telling me that we are headed toward a bone marrow transplant.  However, I am not the expert.  Speaking of which, we are still waiting to speak with the expert.  We started the referral process about 6 weeks ago and somehow, everything has not yet aligned to where we are even allowed to make an appointment.  I have confirmed that the referral has been received, but for some unknown reason, we are still not able to schedule.  I am beyond frustrated with this process.

Below are updated charts showing Ryan’s counts at 3-months Post ATG.

Save a Life. Why Would You Not?

Saturday September 14^th, I attended a fundraiser hosted by Julian’s Dinosaur Guild (http://www.juliansguild.org/julian/home.html).  The guild was started in honor of Julian Blackwell, who was diagnosed with Aplastic Anemia at the age of 3, in 2010, and underwent a bone marrow transplant in 2011.

The event was emceed by Keith Eldridge of Seattle’s KOMO 4 News, and donations raised help fund Dr. Akiko Shimamura’s research of bone marrow failure diseases at the Fred Hutchinson Cancer Research Center and Seattle Children’s Hospital.

Dr. Shimamura is a leading expert in Aplastic Anemia and spoke at the event about some exciting work being done in her lab right now.  One particular study has identified gene markers that can help predict up to 10% of patients who will likely not respond to ATG treatment.  I imagine that, in the future, this may help develop a routine screening protocol that can spare “non-responders” from a harsh round of ATG treatment, and perhaps direct earlier efforts toward bone marrow transplantation or participation in clinical trials.

At the event, I had the opportunity to introduce myself to Dr. Shimamura and chat with her briefly about Ryan.  She reassured me that there is still time for the ATG to work, but that she would be happy to see him at her clinic for a consultation.

Last week, Ryan’s doctor determined that we are at the point where he recommends a consultation with Dr. Shimamura.  Since we are not quite to the “3-month post-ATG” benchmark when initial evaluation normally occurs, I simply asked the doctor if he wished that he were seeing more improvement in Ryan’s counts at 2 ½ months in.  He said that he has had some patients who were “late responders”, so he is still hopeful, but that he would like to have seen Ryan not so dependent on transfusions by now.  I asked him if another bone marrow biopsy would be scheduled soon to see how things are looking. Unfortunately, he said that it didn't make sense to do one right now, because without much cell growth (i.e. increases in counts), he expects that Ryan’s biopsy would look the same as it did in June.  Enough said.  With that, our conversation shifted back to setting up the referral to Dr. Shimamura, transferring bone marrow biopsy slides to her, etc.

Back to the fundraiser for Julian’s Dinosaur Guild…   The event also paid tribute to Julian’s two year bone marrow “transplantversary”!  It was encouraging to see Julian running around full of energy and hear that there were other bone marrow failure survivor’s in the room, including another child who has successfully been treated to remission with ATG.  However, the most touching moment in the evening came when the audience was introduced to Andrew, Julian’s bone marrow donor.

Two years earlier, Andrew had been in the middle of planning his wedding when he received the call asking him if he would be willing to donate.  Just days prior to the fundraiser, Julian and Andrew met in person for the first time.  Onstage, Julian’s family presented Andrew with a framed photo of them both together, with messages of thanks filling the matting around the image.  In that moment, Keith Eldridge asked Andrew why he had made the decision to donate.  An emotional Andrew put his hand on Julian’s shoulder, then looked up at the audience and simply asked “Why would you not?”

Would you be willing to save a life? Did you know that you can easily register online as a potential bone marrow donor?  A kit will be sent to you and you simply swab your cheek and return it – no initial blood draw is needed.  Chances are, you will never be contacted and have to decide.  However, even with over 9.5 million people already in the registry, some people requiring a bone marrow transplant will only have one match (or no match at all).  What if you are the one in 9.5 million match needed to save a life?  Would you donate? Why would you not?

To register, visit www.bethematch.org  Please, don’t just think about it as something nice you might do someday.  Take a few minutes right now to sign up online.  There might already be a patient out there that may not have a “someday” without the few minutes it takes you to register today.

Two Months Post ATG: Do we have a Partial Response to Treatment? Maybe… or Maybe Not…

Years ago, when I was a 20-something bachelorette, I was microwaving a frozen burrito when I received a phone call that would take my breath away and leave me feeling dazed and sick to my stomach.  It was the feeling of getting really bad news, and it was the first time I had ever received this type of bad news.  A friend had been killed in a car accident overnight.

I remember dropping the burrito, plate and all, into the garbage and then wandering aimlessly around the house in the hours that followed, until I finally crawled into bed and spent a restless night trying to sleep, but then continually waking to thoughts of this person and the tragic events.

Throughout the years, I have experienced this same “bad news” feeling at times.  I have felt it when learning of the death of my grandparents, the death of my uncle, the cancer diagnoses’ of friends, layoffs at work, the death of a coworker last year, and of course Ryan's diagnosis of Aplastic Anemia.  I think this feeling might be related to the temporary “fight or flight” response our bodies have to danger (or a bad situation).  However, I have been having this feeling on a regular basis lately.

For the first two months after Ryan’s diagnosis, an adrenaline rush of sorts kicked in.  The first month, I was on a mission to understand as much as I could about his condition and prognosis.  I read everything I could find on the internet about Aplastic Anemia.  I read websites, blogs, medical journals, information on clinical trials, researched hospitals throughout the country, researched doctors, and watched pre-recorded webinars.  The list goes on…

I also conducted many fruitless searches on anything that I could think may have been a potential cause of his condition.  My theories ranged from it being something in his sandbox, off-gassing from the building material in the new home we moved into when he was 9 months old, the Zantac his doctor prescribed him for acid reflux when he was an infant, something from a plant outside that he may have put in his mouth, something he was exposed to at daycare, or something I was exposed to when I was pregnant.  I was looking for something to help me make sense of it.  I now realize it will never make sense to me.

The second month, I read every book that was a patient’s story on Amazon:

Anatomy of a Miracle: Drew’s Story by Jennifer M. D’auteuil

Drew had an unsuccessful round of ATG and then received a Bone Marrow Transplant from a non-related donor.  He has had complications along the way, including a near-fatal lung infection, but is doing well today.

Danielle’s Story: A Daughter’s Battle with Aplastic Anemia by Shawn Williams

A heartbreaking story about 11-year old Danielle’s battle with Aplastic Anemia and her death due to complications of the disease.

Out of Nowhere by Esther M.R. Hougham

Esther recovered from Aplastic Anemia as a result of a sibling matched bone marrow transplant.

Blood Counts: My Triumphant Battle over Aplastic Anemia by Asa J. McMahon

Asa recovered from Aplastic Anemia as a result of a sibling matched bone marrow transplant.

I have since been in contact with Jennifer M. D’auteuil , the author of Anatomy of a Miracle: Drew’s Story, and have joined her Facebook page “BAND OF MOTHERS in the fight against Aplastic Anemia”.  I have enjoyed Jennifer’s positive attitude and find that she is a daily cheerleader of sorts for AA patients and their families.  I encourage you to buy her book and check out her Facebook page.

I have also continued to follow the blogs of several AA patients, including a blog about Nora Getchell, a young girl in New York.  I found the blog, written by her mother, the night Ryan started his ATG treatment in the hospital.

Nora is in her third year battling AA.  She initially received, ATG.  It looked like she was responding for a while, but then her counts fell off again.  She then received a bone marrow transplant last year, again things were looking good for a while, but in recent months the transplant failed.  The donor provided additional stem cells and Nora was given a “boost” last month.  She is still in the hospital, has developed several near fatal infections, and the graft of additional stem cells has officially failed.  They are now trying to manage infections and coordinate a second bone marrow transplant, from a new donor, to occur within the next 2-6 weeks.  My thoughts and prayers go out to Nora and her family.

While it is hard for me to read at times, Nora’s blog has given me a realistic idea of what a rollercoaster rider this disease can be.  Here is a link to Nora’s blog if you would like to follow her journey: http://norasstars.wordpress.com/

During Ryan’s second month post-ATG, I also analyzed every aspect of his lab results from every blood draw on record.  I created spreadsheets to track every result and corresponding graphs to look for trends and potential improvements in his counts.  I combed through stories of other patients who had ATG and, where numbers were mentioned, I compared them to Ryan’s for any potential clues regarding his progress.

My theory so far is that he is having a slight “transfusion dependent partial response”. That isn't great.  His neutrophil count has made some progress and seems to be hovering around 700 (still about half of normal).  He has also had a few spikes in his platelet count, which seem to be followed by his T cells aggressively attacking them at a rate of around 11,000 for the first few days, and then leveling off at a “burn rate” of 3500 a day.  When he was first diagnosed, he seemed to be burning through about 3500 a day, so this is where I get concerned that we haven’t made much progress.  While it is encouraging to see the spikes in his counts at times, it is just as discouraging that his T cells seem to kick into overdrive once they realize his counts have gone up (rogue T Cells are our enemy and are the attackers of Ryan’s healthy cells).  I have included updated charts of Ryan’s counts below.

Now we are entering the third month post-ATG.  Upon completion of this month, we will have a good idea of whether Ryan is responding to treatment.  I have completed my research, I have read the books, I have analyzed the data. We have an appointment Monday and Ryan’s blood will be drawn to HLA tissue type match him for a potential bone marrow transplant.  Unless his counts drastically improve this month, it is likely the doctors will ask us to start considering a transplant, and they will start looking for a potential donor.

In the meantime, I am to the point where I feel like there isn't much I can do to help.  I can pray that there is a perfect match donor out there if Ryan needs one.  I can make sure Ryan has his medication twice a day.  I can monitor his temperature for potential infections.  I can keep him away from large public gatherings. I can try to help him deal with the anger his medication seems to be giving him.  I can pray for a miracle. I can also love him more than he will ever understand.  Other than that, I am left to deal with my constant “bad feeling” and look for positive ways to channel my nervous energy and deal with all of this.