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Thank you! Thank you! A million times – thank you!

We are following a blog about another young Canadian girl (Nadia) who is afflicted with DKC that is also having to go through blood, platelet, and bone marrow transplants. While reading about Nadia (nadiasquest.ca), I noticed that her parents thanked their donors every time they received blood, platelets, etc…  This enthusiasm to continuously thank the donation community really struck a cord with me.  Why hadn’t Beth and I been so generous in our thanks for these donations?  We certainly are very grateful!

In thinking this over, it occurred to me that in the current healthcare system, there is massive disconnect between those who give and those who receive.  This is done to provide security and privacy for both the givers and the receivers.  On a day-to-day basis, it is very hard to recognize that the blood or platelets being given to Clark are from a real human being (that took time out of their day to draw blood or platelets) and from an organization dedicated to collecting, testing and treating the product once they get it.  It’s a massive engine of activity to get product for Clark that appears to simply come from a closet in the back of the hospital.

So, having been reminded of this, I wanted to issue some long overdue thank yous.

First and foremost, to the blood and platelet donors.  Thank you very much for taking time out of your busy day to make it to a clinic and donate.  Clark would not have survived this long without your help.  Your effort, has literally, saved the life of our young boy.  Thank you!!!

Secondly, to our bone marrow donor (currently only known to us as a “European” donor).  Thank you so much for being willing to go through the process and procedures required to give bone marrow.  We are very aware how disruptive, time consuming, and (in some cases) how painful it can be to give bone marrow.  Thank you so very much for your willingness to go through this procedure.  You are saving the length and quality of life for our young boy.  He would not be able to live and thrive without you.  Thank you!!

Third, to our doctors and nursing staff who literally number somewhere between 40-50 people.  To the doctors who have been patient with our questions and diligent on finding the correct diagnosis, thank you!!  To the nurses who have made our hospital stays comfortable and have been patient with all the questions and needs of both of our sons, thank you so very much!!

Fourth, to my mother.  Thank you for being willing to put your life on hold while Beth and I go through this painful process.  Without you, Beth and I wouldn’t be able to survive as a couple.  You have made it possible to both spend time with one another, and spend time with Clark and Connor.  We would not have been able to get this far (much less through the coming BMT) without you.  Thank you so much!!

Fifth, to Connor.  I know times are tough right now, and you don’t get to see mom and dad as much as you used to.  We are so sorry that we don’t get to see you while we are in the hospital with Clark, but your positive attitude and willingness to work with the current situation is very impressive to us.  Thank you for never complaining about mom and dad having to leave, and thank you for being so overjoyed to see us when we are able to make it home.  We love you so much, and will do our very best to make it up to you the best we can.  Thank you!!

Finally, to our extended friends and family who have given us financial and emotional support.  Beth and I could never have imagined life taking a turn like this, and we continue to be amazed at the outpouring of support and willingness to jump in and help.  And we can use all of it.  Thank you so much for all your help and your kind and positive thoughts!!

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Thank you!!

While we expect to have a steady stream of very specific appreciations as this process goes forward, it will be impossible to thank everyone, so know these efforts are far from exhaustive.

And just in case – thank you to anyone we may have missed!! Clark as well as Beth and I, are eternally grateful to everything you have done.

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One is great, so two must be better!

In preparation for Clark’s BMT this Monday, we needed to have his single line broviac removed and replaced with a double line version.  The double lumen broviac is ideal for placing medicine (or in this case chemo) at the same time as pulling blood samples.  Single line would require switching lines and flushing between pushing and pulling liquids.

As with every surgery Clark has had (this was his 4th so far), we are always nervous about putting him under the knife.  Luckily all went well, and he is recovering nicely. Clark didn’t appear to be in any pain, until lunch came.  He must have been starving as he completely devoured all of his food, and then ate some of Beth’s.

We are scheduled to remain at Kaiser hospital until Sunday, and then transfer directly to UCSF for the start of the BMT.

 

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Second Birthday!

In the BMT industry, some refer to the day a patient receives their transplant as their “new birthday”.  This is because the patient will get brand new bone marrow that will produce blood that has different DNA than the original bone marrow.  Organs will remain the same as before and carry their original DNA, it is only the blood DNA that will be different.  So when the BMT is complete, Clark will carry 2 types of DNA inside of him.  In medical terms, Clark will become what is known as a Chimera.

The Chimera was, according to Greek mythology, a monstrous fire-breathing hybrid creature composed of the parts of three animals – a lion, a snake and a goat. Usually depicted as a lion, with the head of a goat arising from its back, and a tail that ended in a snake's head.
The Chimera was, according to Greek mythology, a monstrous fire-breathing hybrid creature composed of the parts of three animals – a lion, a snake and a goat. Usually depicted as a lion, with the head of a goat arising from its back, and a tail that ended in a snake’s head.

What is even more interesting is that since the new bone marrow will effectively produce blood that is genetically the same as the donor, Clark will also receive some of the characteristics of the donor’s blood as well.  That is, Clark will share the same blood type, the same seasonal allergies as the donor, and possibly the same food allergies!

For those who are curious, the bone marrow transplant will not affect Clark’s DNA contained in his sperm.  So if Clark ever gets to the point where he decides to have children, they will definitely look like Clark, and not the bone marrow donor.  (You’re welcome.  We were just as curious once we heard this…)

As well, since Clark’s bone marrow will be starting over, he will also need to start his immunizations over again as well.  All the benefits we had with his original immunizations will be wiped out.  Not surprisingly, it will be just like starting over from when he was born!

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Will all racers please take their place at the starting line.

The big day has finally arrived.  On August 11th, we will begin phase 1 of the BMT treatment. There are 3 phases overall.

Phase 1 is the conditioning phase. This is just short of a 2 week process where Clark will be given chemotherapy to destroy his existing bone marrow. Phase 1 is tracked as a negative countdown (much like a shuttle launch), where day one of Phase 1 is identified as -9. Countdown (or count-up in this case) goes until day zero, where we enter phase 2.

Phase 2 is known as the aplastic phase. In this phase, Clark’s bone marrow has been “emptied” and is ready for the donor bone marrow. This phase lasts 2 weeks as doctors anxiously wait and watch for signs that the new marrow has taken hold, and is growing.  Day zero is effectively a “new start” for Clark’s bone marrow.  It will be like his marrow has been re-born, much like when Clark was in his 3rd trimester of birth.  Some refer to day zero as Clark’s new “birthday” because of this.

Phase 3 is known as the isolation phase. This is where we keep Clark isolated from viruses, bacteria, and fungus, as his numbers steadily climb and he recovers while his bone marrow grows. This phase can last many months and will be spent partially in the hospital (4 weeks), and partially at home (4-6 months).

Beth will join Clark for most of his time in the hospital.  She will be updating us daily on Clark’s progress from his isolation room.  If you have a positive thought for Clark, now is the time to put it out there!!

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A little bump in the road, continued…

After pulling an all-nighter at ER the night before, Patrick and I hit the sack early to get some well deserved sleep.

But it wasn’t meant to be.

At 3am in the morning, we were jarred awake by the sound of the phone ringing.  When I answered the phone, there was a very urgent tone coming from the person talking.  It was the lab technician who was analyzing Clark’s blood culture.  He said Clark’s blood culture had grown and was showing signs of a category of bacterial infection called “gram negative rods”.  He said we needed to go to Oakland ER immediately for antibiotics, as this strain of bacteria can be very dangerous if not treated properly.  And just to understand how dangerous he was talking about, E-coli is one of the bacteria found in this category.

We quickly packed our overnight bags and headed to the Oakland ER. The trip turned out to be a very long one.  Over the next 8 days, we “lived” in the hospital while Clark was given antibiotics and a series of blood culture tests.

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Clark loved having his trains at the hospital. We were able to fit an entire loop on his dining table, and then run a battery powered train continuously. He would watch it go around for hours!

By the 4th day, the doctors were finally able to identify the strain of bacteria. Unfortunately, the antibiotics Clark had been on up until then were the wrong ones!  Clark had a rare bacteria that the current antibiotics were not effective at killing. The bacteria, Pseudomonas, can be normally found in dirt, plant spores or just blowing around. Most people are not affected by it, but as it so happens, this bacteria loves broviac’s, and people with compromised immune systems.

Since Clark wasn’t showing many signs of an infection (no fever and he was happy and energetic), the doctors assumed the bacteria was harboring inside of Clark’s broviac. So they decided to have his central line removed. This on its own is not a big deal since we were planning on switching it out for a double line this week anyways. The problem was that we would not be able to put the double line Broviac in until the bacteria is completely out of Clark’s system. And without some type of central line, giving Clark infusions or medicine would be difficult (or near impossible).

So, during the surgery to remove Clark’s original broviac, Clark had a PICC line inserted in his arm. This is basically a mini broviac, or catheter that was inserted in his arm to receive his medicine, or blood products if needed.

Late on the 8th night (Monday August 4th) we were finally sent home with oral antibiotics and instructions on how to care for Clark’s PICC line.  We were very glad to be heading home.  It gave us 2 days to plan for Clark’s upcoming BMT, and more importantly, some much needed TLC with Connor.

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A little bump in the road

With less than 2 weeks to be admitted for his BMT at UCSF, our only goal is to keep Clark free of colds and sickness, as these are the only things that can derail the upcoming procedures.  But even with our absolute best efforts, we couldn’t seem to catch a break for our young boy.

After a great Sunday afternoon celebrating Connor’s 4th birthday, Clark woke up at 10:30pm crying and vomiting, with a fever slightly over 102 degrees. This was a panic moment for us.  Fevers this high generally mean there is an infection. Since Clark has a low white blood count (WBC), he cannot fight off bacteria infections on his own. We called the hematologist, and (as expected) they told us to go to ER in Oakland immediately.

We really don’t like going to ER.  It could be deadly for Clark to wait in the general waiting room filled with other sick patients and furniture covered in germs. Whenever we go into ER with the kids (aka the little germ magnets), we try to avoid touching anything and keep the sanitizer close at hand.  Lucky for us and him, since Clark has a compromised immune system we are put on the fast track after arriving in ER (where others may wait for hours).   With Clark being immunocompromised, we are given a private room (with a door) usually within 10-15 minutes.

As soon as we entered our room in ER, Clark had a blood culture taken. The blood culture determines if he has a bacterial infection, and if so, what type of bacteria infection he has. This usually takes 24 hours to get a negative or positive result plus another 24-48 hours to find out what strain of bacteria it is.  As well, he also received a blood draw for his complete blood count (CBC).  The CBC is to check his WBC count. If his numbers are high enough, he can fight off most infections on his own.  The CBC test generally comes back in only an hour.

After taking these, they immediately started Clark on an antibiotic delivered intravenously through his broviac. They do not mess around with immunocompromised children.  By giving this treatment immediately, his body can start fighting off possible bacteria before even getting the culture test results. As well, if the bacteria is in his broviac line, by putting the antibiotics through the line they can also make it is also clean from bacteria.

Within an hour, Clark’s CBC came back, and his WBC was higher than normal. This was great news ! It meant his body was attacking the bacteria. It meant we could go home after the 1st round of antibiotics, and come back in 24 hours for 1 more dose.

However, as always, there was a catch.  The CBC also showed that his hemoglobin (hgb) was down to 6.4.  The doctors generally recommend we do a blood transfusion when Clark is under 7 g/dL. The low hgb is a complication due to his Aplastic Anemia. While this result had nothing to do with his fever of bacterial infection, it did mean we needed to stay in the hospital “a little longer” to receive the transfusion.  We knew there was nothing little about the stay we were having.

The reality is that it can take some time to get a blood transfusion. There is time needed for the logistics of acquiring the blood for the transfusion, as well as the time needed to do the procedure itself.  First the doctors need another blood draw for confirmation of blood type. Then they need to order the blood from the blood bank, which usually takes a couple hours.  Finally, when they hook Clark up  the transfusion, the process of transfusing usually takes 3-4 hours.

We immediately knew we were not leaving the hospital that night.

Thankfully we have been through this before, so we knew it would be beneficial to request to be admitted into a room on the pediatric floor (rather than staying in the less comfortable ER). And as we expected, by the time the transfusion was complete it was 10am on Monday morning. Patrick and I (and Clark) were all exhausted from the long night.

And then we got more good news… The doctors decided it would be best to keep Clark “just a little longer” so they could administer his 2nd dose of antibiotics.

By the time they administered the 2nd dose, we were finally sent home.  It was 6pm Monday evening.  We had been in the hospital for almost 20 hours!!  At least we were able to come home early enough to give us a chance to play with Connor, have some dinner, and sleep in our own bed.

That is, until the phone rang at 3am with the blood culture result (to be continued…)

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Nearly ready to start the transplant

We are very close to the start of the bone marrow transplant (BMT). Officially, the timer will start when UCSF calls us and says they are  “activating” a donor. When we get this call, we will be in a 3 week countdown for the transplant.

We had a tour of the UCSF BMT facilities the other day. It is very interesting in how they have it set up. The room Clark will be treated in is behind another room they call the “anti” room. The “anti” room is a “prep room” where Beth and I will store and eat our food, as well as scrub up and prepare to visit with Clark. Clark will not be allowed out of his treatment room for the entire 6 weeks he is being treated at UCSF.  Beth and I will be allowed out, but we will need to sanitize up to our elbows before entering Clark’s room.

As well we learned that Beth will not be allowed to shower in Clark’s room, but she will be able to use the toilet.  If Clark was potty trained, then this wouldn’t even be allowed. There is concern about spreading outside bacteria by steam (shower) or having him touching the toilet (if he was potty trained).  Beth will have access to a shared shower room that is on the floor.

The most dangerous area in Clark’s treatment room is the floor.  Clark will not be allowed to touch the floor without being on a plastic mat or wearing some type of protective foot gear.  If he drops a toy from his crib, it will need to be completely sanitized before being handed back to him. As you might suspect, plastic toys that can be easily doused in disinfectant are preferred to stuffed animals (which have to be washed). Clark loves fire trucks, and action figures that ride in fire trucks, so we think this is a small blessing.

Clark will not be able to eat any home cooked food.  It will either need to be made by the hospital, or in a sealed package (Larbar is a good example).  After opening a food item, it will have to be eaten or thrown away within 2 hours.  Bethany can bring her meals into the anti room, but not into Clark’s room.  This includes drinking water as well.  There can be no risk of Clark reaching for someone else’s food, and being exposed to foreign bacteria.

The plan of action, looks to be that Beth and I will switch off staying with Clark. Beth will stay Sunday to Friday, and I will cover Friday to Sunday.  That way both Connor and Clark can see both of us over time.

The facilities overall are very nice.  They have many areas designed to allow people of all ages to decompress and de-stress.

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What is Dyskeratosis Congenita (DKC)?

Clark has been diagnosed with Dyskeratosis Congenita (DKC).  Our doctors point to this as the reason he has Aplastic anemia. But what does does having DKC really mean?

If you think of Hemophilia and Aplastic Anemia each as massive, monster diseases on their own, then you should consider Dyskeratosis Congenita as a lair in which monsters are continuously created and unleashed.

DKC is a congenital disease that directly affects DNA.  The condition creates abnormally short telomeres on an individual’s DNA strands.  Telomeres are the part of a DNA strand that allow it do divide and create more cells.  When telomeres become short, the cells are not able to divide and multiply.  When your cells can’t divide and multiply, this leads to a variety of problems which can include organ failure.  When people age, they naturally get shorter and shorter telomeres.  That is why people who have DKC, often get symptoms of organ failure that are somewhat similar to elderly people.

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Explanation of how Telomeres relate to cell division.

So as you might suspect, what’s most important to understand about Dyskeratosis Congenita is that it is not easily defined as “one” problem. The manifestation of short telomeres is difficult to predict.

At our meeting with our geneticists, we tried to figure out what symptoms to watch for that might be issues related to DKC.  When asked, the answer was, “well, it is hard to say, it can manifest itself in many ways”.  Ok, so then we asked what the lifespan of a person with DKC is, to which they answered “well, it is hard to say, we don’t have a lot of data on DKC”.  We continued to pepper them with questions, but most of the answers were either vague responses or shrugs.   Probably the most promising bit of information we received was that there doesn’t appear to be any correlation between intellectual function and DKC.  But, even this came with a warning of “as far as we know…”

How new is our understanding of this disease?  It was only as recent as 2003 that Richard Cawthorn at the University of Utah discovered that people over 60 with longer telomeres lived longer lives than people with short telomeres.  We are only beginning to understand the effects of short telomeres, much less the disease that causes them prematurely.

Here’s what we do know… A patient receiving  a bone marrow transplant can often look forward to complications of the liver, lungs and heart later in life.  This is a patient with otherwise healthy organs.  In Clark’s case, the short telomeres have already put him at a disadvantage.  The conditions that might be magnified in a person when they are 50, are possible when Clark is 5.

We are cautiously optimistic as we head into our BMT, but even if it is successful, we will not be able to lower our guard.  The cure is almost as bad as the disease, and there are a lot of surprises awaiting us from this disorder.

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Be very careful swimming in the shallow end of the gene pool

We met with our genetic councilors today, and they confirmed that Clark does in fact have Dyskeratosis Congenita (DKC).  The specific version of DKC is known as TINF2, which is a marker they have identified in Clark’s DNA.

This is about where the world’s knowledge on the topic ends.

We had prepared for this visit with the genetic councilors by writing down all our questions.  There were a lot.  This turned out to be a waste of paper.  Knowledge of this disorder spans about 10 years, and we are all learning about this in “real time”.

There is no way to tell how Clark got this disorder.  It doesn’t appear to be “x-linked”, and therefore it doesn’t appear to have been passed to him from either of us.  DKC doesn’t appear to come from exposure to chemicals or radiation, from what they know so far. From our knowledge today, it is simply a random bit of bad luck.  One in a million.  If we have another child, it will be a random chance this could happen again.

What we did learn, is that worrying about DKC in your child is like worrying about Down Syndrome.  When you are told that your child has Down Syndrome, you don’t really argue that the child has the disorder, but you become very concerned about what the effects will be.  Will they be able to function normally?  Will it be only cosmetic?  How bad will the brain damage be? etc…  In all cases, doctors will tell you they aren’t sure, and that time will only tell.

DKC is identical in this scenario.  Doctors know Clark has DKC, and that this can cause short telomeres, which can lead to organ failure.  But what organs?  When could they fail?  What symptoms should we watch for?  Well, there isn’t any good answers to this.

Previously, people who are born with DKC didn’t live very long. Only about 10 years ago, did we even come up with a test to identify this disorder.  So there simply isn’t any good data on the subject.  Clark will unfortunately be more valuable to mankind as a data point, than the reverse.

One thing that became clear in our visit with the geneticists, is that Clark’s liver, lungs and heart will be more delicate than those of a normal healthy human being.  His body’s ability to maintain cellular structure of these organs is compromised.  So like a muscle that repairs itself to remain strong, Clark is less likely to be able to make these repairs.  When you combine this with a bone marrow transplant, the situation becomes morbid.

An otherwise healthy patient that receives a bone marrow transplant will run the risk of having liver, lung and heart conditions many years later.  Pulmonary fibrosis at 50 might be one example of this.  But in Clark’s case, his organs are already compromised by having DKC.  So maybe it will be age 10 that Clark gets this – or maybe not.  There is no way to predict any of this.

There was a sliver of positive news, in that “as far as we know…” intellectual function is not affected by DKC.  With today’s information, there doesn’t appear to be any known correlation.

When it comes to how long Clark will live, or what lies ahead, it will be a waiting game to see what comes next.  For “known conditions”, doctors always point to Aplastic anemia as a “worst case” scenario.  Clark is already there.  So would you take this as the worst is known… or a warning as to what is ahead?