Ryan at Clinic Yesterday Waiting for His Lab Results

A relative of one of the nurses comes in as each season/holiday changes and paints scenes on the glass doors of each patient room.

This Easter is Different

Every year, Ryan’s Grandparents host Easter.  The highlight for all of the kids is a garage filled with hay that is laden with treasures.  The kids pile in and dig for eggs full of candy, money, and toys.

Ryan can’t participate this year.  In fact, he isn’t even supposed to go in the garage tomorrow because there is a fungus in hay that can be very dangerous for immune compromised people.  I feel so bad for him.  We are constantly having to tell him “no.”  He can’t go to school, can’t see his friends right now, can’t go to birthday parties, can’t go out in public, isn’t supposed to dig in the dirt outside (same reason as the hay), can’t climb up in his fort (because a fall could cause him to hemorrhage), the list goes on.

He is disappointed and even asked if he could stay home tomorrow.  However, I am going to try to make the day fun for him.  I have wrapped up treasures in orange tissue paper (his favorite color) and I plan to stash them around Grandma and Grandpa’s house so that he can have a scavenger hunt indoors while the other kids are out in the hay.  Hopefully he will enjoy that.

The picture of him above is from last year’s hay pile – about 3 months before he was diagnosed.  I have noticed that last year’s Easter pictures are the last pictures we have before he started to look pale and get bruises and petechiae (red dots on the skin from low platelets).

Another Delay while We Wait on the FDA

With less than a week remaining before Ryan’s scheduled second arrival at Seattle Cancer Care Alliance (SCCA) to resume the pre-transplant work-up, I received a call yesterday from one of the doctors we have been working with there, Dr. Laurie Burroughs. The national non-malignant board that she chairs met to discuss Ryan’s case and all of the doctors said his case is very challenging.

The board felt that he doesn’t currently meet the diagnosis for Aplastic Anemia due the increase in cellularity of his bone marrow (although his biopsy a few weeks ago shows that it has gone back down some). However, he still does not have any test results that confirm MDS, so he doesn’t technically meet that criteria either. There is still one outstanding test, the big “UW Oncoplex” to look at over 100 individual genes. If they don’t find any mutations from that test, and nothing else changes with the next bone marrow biopsy, then his official new diagnosis will likely be “underlying bone marrow failure” (I believe this implies that it is probably something genetic, but they don’t know what).

All of the doctors on the board agreed with our prior decision to hold off on the transplant in February, but that it is very reasonable to proceed with transplant at this point. However, there apparently was quite a bit of debate between the doctors as to which pre-conditioning regimen (chemo and/or radiation before transplant) to use; the majority of the board favored a more aggressive approach.

Dr. Burroughs presented the option for Ryan to participate in a phase 2 clinical trial she is the Principal Investigator of, that has had some very promising results. It involves using three different chemotherapy agents prior to transplant, Treosulfan, Fludarabine & Anti-thymosite Globulin (ATG), without radiation. (clinicaltrials.gov, protocol 2256 – Identifier 00919503) So far, there have been no patients with liver toxicity, which is often a problem with one of the standard chemo agents (Cytoxin). Everyone on the non-malignant board indicated that this would be a good approach for Ryan.

The caveat… Either the drug company or FDA (I am not clear) recently asked them to lower the dose of Treosulfan used. Since then, they have had problems with engraftment failure (meaning the donor bone marrow fails to set up shop in the patient’s body or fails after engrafting). The same study is being conducted in Europe; they never decreased the dosage of Treosulfan in their trial and have not had problems with engraftment failure. Therefore, Dr. Burroughs just sent a letter to the FDA requesting permission to reinstate the higher dose. The FDA has 30 days to respond. If they do not deny the request within 30 days then it is automatically approved.

Hopefully, the third time is a charm – our new SCCA arrival date is May 6th. Ryan will likely go in-patient around May 20th, to start chemo, and they are targeting May 28th for the transplant.

In the meantime, Ryan has been burning through platelets at a faster pace and his ANC (white blood cells that fight infection) keep dipping. He just got platelets in the ER last Thursday night and today, a week later, his platelet count was back down to 4,000 and his ANC is 400. Now that his ANC is back under 500, we have to be even more hyper-vigilant about germs, the types of foods he can eat, etc. I suspect the lower counts are due to the discontinuation of his Tacrolimus (immunosuppressant medication). However, the doctors took him off of it because they said, in theory, it shouldn’t have been helping him because they don’t have any signs that indicate his bone marrow failure is autoimmune.

On a lighter note, I picked Ryan up from Grandma N’s house after work yesterday and he had taken a bath and spiked his hair into a mohawk. He very matter of factly said “Yeah, I wanted to do a mohawk before I get bald.”

IV Benedryl…

Ryan had an allergic reaction to platelets last month and now has to be pre-medicated with Benedryl before he receives blood products. He was in such a great mood this morning and was having a good time playing with the Child Life Specialist while waiting for his platelets. Then, the IV Benedryl kicked in and everyone in the room could just see the immediate change. He was clearly mad that it was making him sleeping and he couldn’t play anymore. About 5 minutes later, he was out.

Not much has changed in the last month. Ryan continues to need platelets about every 7-10 days and red blood about once a month (the life of a platelet is generally 6 days and a red blood cell lives for about 35 days). He has another bone marrow biopsy tomorrow to see if there are any changes in his marrow, such as a change in cellularity. My main concern at this point would be the discovery of hypercellular marrow (a marrow filled with too many stem cells that are not working properly), which could indicate a rapid progression from Aplastic Anemia (not enough cells) to Myelodysplastic syndrome (MDS).

We are also still waiting on the results of the more detailed genetic testing. I received a little more clarification regarding what they are looking at currently, and how the original genetic tests were different. The genetic testing done back in November looked at the DNA level and normally catches the nine most common reasons for genetic bone marrow failure. In January, they went one level further and did Cytogenic testing to look at Chromosomes. In theory, the Cytogenic testing should have revealed any genetic issues that would contribute to MDS. Now, they are looking at individual genes to see if they can identify any mutations. We are waiting on the results from three different tests, one of which is a test developed at the University of Washington called an “oncoplex”. The oncoplex is done on cancer tumors or bone marrow and looks at over 100 individual genes. If they find specific mutations, it can help the doctors select different types of treatment (chemo) options based on the gene(s) affected.

We are still on target to go back to SCCA and start the transplant process on April 2nd.

Not much has changed in the last month. Ryan continues to need platelets about every 7-10 days and red blood about once a month (the life of a platelet is generally 6 days and a red blood cell lives for about 35 days). He has another bone marrow biopsy tomorrow to see if there are any changes in his marrow, such as a change in cellularity. My main concern at this point would be the discovery of hypercellular marrow (a marrow filled with too many stem cells that are not working properly), which could indicate a rapid progression from Aplastic Anemia (not enough cells) to Myelodysplastic syndrome (MDS).

We are also still waiting on the results of the more detailed genetic testing. I received a little more clarification regarding what they are looking at currently, and how the original genetic tests were different. The genetic testing done back in November looked at the DNA level and normally catches the nine most common reasons for genetic bone marrow failure. In January, they went one level further and did Cytogenic testing to look at Chromosomes. In theory, the Cytogenic testing should have revealed any genetic issues that would contribute to MDS. Now, they are looking at individual genes to see if they can identify any mutations. We are waiting on the results from three different tests, one of which is a test developed at the University of Washington called an “oncoplex”. The oncoplex is done on cancer tumors or bone marrow and looks at over 100 individual genes. If they find specific mutations, it can help the doctors select different types of treatment (chemo) options based on the gene(s) affected.

We are still on target to go back to SCCA and start the transplant process on April 2nd.

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.