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.

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.

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?

Let’s see, 2 divided by 3 equals?

Clark’s doctor made a funny comment the other day.  When we were talking about the bone marrow transplant process, she mentioned that one of us would need to join Clark in isolation when he is getting his bone marrow transplant. So I asked how parents putting a child through a BMT typically cope with 2 children.  She then said that siblings would not be allowed in isolation (due to the risk of viruses and bacteria), and that most parents simply divide the responsibilities and each take a child.

This prompted me to ask a simple but important question: who in the family goes to work in this scenario?

She looked stunned for a moment, and then recovered and asked if we had a family member that could watch our older son during the day.  I replied that we have no family living in the state.  She then asked if we had a nanny or daycare.  No to both; Beth is a stay at home mom, which is how we survive on one income.

This apparently was too much for her.  She said that many families go through this, and they somehow “manage”, and that we would be fine.

I assume by “manage”, she means “go bankrupt”, as medical expenses are the single leading cause of bankruptcy filings in the US.  While I would gladly take the role of watching my 3 year old son full time, someone has to go to work and keep the medical insurance current.  The costs with medical insurance are surprisingly high – I can’t imagine going through this without insurance.

But what was really surprising, is the disconnect between those providing medical insurance, and the individuals receiving this insurance.  Even car insurance has become smart enough to realize that when your current car is out of service, you may need to be covered for a loaner car – and hence they provide a mechanism to pay for this.

When it comes to medical insurance, if the parent responsible for watching your children isn’t available – you are on your own.  I almost wonder if the people who come up with this coverage all have nannies and full time daycare, and never think that there would be a scenario where a parent might stay home and watch multiple children.  It’s clear the medical industry doesn’t have a clue about this.  Even our “assigned” medical insurance social worker was at a loss.

In the end we have been pointed to a website that allows us to hire a caretaker for our oldest boy.  Daycare isn’t an option, as we can’t have Connor exposed to sickness, unless we want to keep the boys separated for 8-12 months.  Costs for a nanny would be in the neighborhood of $3200 a month.  Can you imagine paying this out of the current budget you have?  We can’t.

It is clear the system is very broken.  I’m sure every parent who goes through this type of situation probably thinks the same.  But until you do go through this, there is no way to conceive of what a real medical emergency looks like.

And I suspect this is why the system remains broken.

What is the procedure to recieve a bone marrow transplant?

Here’s what it will be like for Clark to get his bone marrow transplant.

  1. Over the next two months, UCSF and bethematch.org are working together to identify the best possible bone marrow donor they can find for Clark.  The ideal match will need to be young, of similar genetic background (Irish and German primarily), not have any life threatening diseases, and has never been exposed to the CMV virus.
  2. After identifying a match, they then begin the process of double checking to see if the person is still willing to donate, going through a ton of paperwork and more detailed tests, and if this individual still doesn’t bolt by this stage, the donor will finally be ready to set a date to extract.
  3. Clark will need to be brought into the hospital ahead of the extraction date, and started a conditioning treatment (Chemotherapy).  This treatment will effectively kill all the white blood cells as well as the bone marrow in his body.  It will return Clark to a state of zero immunity, similar to how he was in the uterus 4 months before he was born.
  4. He will then be given the bone marrow cells in the form of a drip. This part of the procedure is very quick (and very cool).  The cells just need to be dropped into the blood stream.  They know where to go and what to do.
  5. Once given the drip, Clark will begin to re-grow his bone marrow.  But during this time, he will be susceptible to bacteria, virus and fungus.  So Clark and Beth will need to be kept in a special isolated room for the first 6 weeks of treatment.  This room will have special ventilation that will be purifying all the air coming into the room. Even with filtered ventilation, bacteria found naturally on and in the human body will also be a risk for Clark.  Antibiotics, anti-fungal medicine, as well as antihistamines will be given regularly during this time.
  6. Connor will not be allowed to visit at all due to the risk of virus and bacteria.  I will be allowed to visit, assuming I don’t have a hint of cold or sickness, and I will have to be scrubbed down before entering.
  7. After the 6 weeks in intensive care, we will hopefully see white blood cells rising.  If this is the case, we are on a track to success (but far from cured).  We will then be sent home to continue recovery.
  8. Clark will need to continue to be kept in isolation after returning home.  If we want Clark and Connor to spend time together, then Connor will need to be isolated from other children as well.  No pre-school or playing at the park with other children.
  9. Hopefully between 4-9 months after being sent home, all 3 of Clark’s blood cell counts will rise, and he will effectively be cured.  If so, he will have brand new bone marrow and will not need to take any ongoing drugs.

This is the plan, as long as there aren’t complications… Complications on this path are far and wide.

  1. Finding a good match is the first major hurdle. Doctors have assured us that this should be fairly successful, as the vast majority of the donor pool is of European decent.
  2. We have to be worried about his body rejecting the cells that are donated to him.  This rejection can happen in one of two ways:
    A) His body could attack the cells as they are coming in, never letting them root.
    B) Or worse, something called Graft-versus-host disease (GvHD).  This is where the new donated bone marrow takes root, and then starts to attack the recipient’s host cells.  This can take up to 2 years to show itself!
  3. Through the whole procedure, we have to be constantly vigilant to ensure Clark doesn’t get a whole host of problems while his immune system is compromised.  Pulmonary infection is the leading cause of mortality with children receiving bone marrow transplants.

We are cautiously optimistic about this procedure and wary of its risks, but we are very glad there is at least hope in curing Clark.

What is the procedure to donate bone marrow?

When it became clear to us that Clark’s brother might have to donate bone marrow to keep Clark alive, we were very curious as to what the procedure was like, and how painful it was.  So here is the low-down:

When you donate bone marrow, liquid is essentially drawn from your hip bone with a needle. This liquid contains cells that will be put intravenously into the recipient.  Depending on the amount that is needed (babies need a very small amount, adults need more), and how “robust” your bone marrow is (generally based on how old you are), this may be a couple to a few pokes into your hip to draw liquid.  The hip bone is the primary source for extraction, as it is the largest and easiest bone to draw from.

The entire procedure is done while under general anesthesiology, so you will be fast asleep when it happens.  When you wake up, you will have an achy hip for a day or two.  Somewhat like if it was bruised from a “hip check” in soccer or hockey.

And that’s it, you are a hero, and you’ve saved someones life.  No long term side effects.  Well, not physical ones…

Now is surgery emotionally traumatic?  I would say yes.  I’ve had my bicep sewn to a bolt that was drilled into my forearm.  I was very nervous going into that procedure, as there was a chance I would never use my dominant hand again.  And when I woke up, it was a year long recovery.  Compared to that? Well, let’s say bone marrow donation is a walk in the park.

That said, surgery is surgery, and it can be emotionally traumatic no matter if it is your molars or a hip replacement. So you do have to come to terms with that. That said, for all the different acts of heroism in the world, this is definitely one of the easiest by far.

What does it take to be a bone marrow match?

I get a lot of great friends and family asking if they can be the ones to donate bone marrow to Clark for his transplant. It’s a great question, and we really appreciate the offers, but unfortunately most will not be a match.

About 70% of patients who need a transplant do not have a suitable donor in their family. Half of Clark’s HLA genetic markers are inherited from myself (his mother) and from Patrick (his father). Each sibling has only a 25% chance of matching. We already know that Connor is not a match (unfortunately). Likewise, it is highly unlikely that other family members will match Clark. Under very rare circumstances, family members other than siblings may be tested.  Case in point might be where 2 sisters married 2 brothers.  Cousins from the other couple might be a great match.  No such luck in our case.

Human leukocyte antigen (HLA) typing is used to match Clark with a donor for bone marrow. This is not the same as ABO blood typing. HLA is a protein – or marker – found on most cells in your body. Your immune system uses HLA markers to know which cells belong in your body and which do not.  It is “acceptance” that is being sought after here.  If the body rejects the transplant, it can be a catastrophe.

There are 12-13 genetic markers that are tested to define a bone marrow “match”. The odds that two random individuals are HLA matched exceeds one in 20,000.  This is why it is so important for eligible donors to register.

The factors for Clark are largely Irish and German (with some Welch, Norwegian and other European Countries). So if you are full Irish, or half Japanese, then you most definitely won’t match. But if your grandfather was Irish, and your grandmother was German, there might be a match there. We are basically looking for people that might have been from the same “village” (back in the days those existed).

However, even if you are of a different nationality than Clark, please consider donating “in kind” for Clark. Donating actually isn’t a huge procedure, and you very easily could save someones life.

Revelations on being a parent

I was suddenly struck with a revelation when thinking about Clark’s condition the other day.

When my wife and I decided to become parents, we thought we knew what we were signing up for. We take on the responsibility of raising the children, and if we do a good job, they move out and become responsible adults. 18-25 years, and we would be free to resume our intimacy and privacy.

In Clark’s case, it suddenly struck me that – beyond our best efforts – he might be unable to be an independent adult. That my wife and I may have unwittingly signed up for a life long commitment.

Which made me wonder…

In this day of knowledge, medicine, and (somewhat) economic stability – have we lost touch with the real responsibility of choosing to become parents??

Did parents of decades ago choose to have 5+ children, knowing that some of them may need the help of their siblings? Would couples in today’s age have only 1-2 children, if the odds of a life long debilitating disease was a “high” likelihood?

Would you think twice about having children faced with a possibility of something like this?

I look into Clark’s eyes, and I know the answer in my case. He gives it to me in one very large, and very loving, smile. I’ve chosen my path, and will remain steady through good and bad. Having seen the love in Clark, I know I would have regretted any other path that would have avoided such loveliness in my life.

Is a helmet for a mild hemophiliac worth it?

We debated for more than 6 months before realizing a helmet would be necessary for Clark. At first, we did not really believe that Clark needed a helmet, since he only had mild hemophilia.  But after 2 back-to-back visits to the ER for mild head bumps, we realized any prevention is much better than any trip to the hospital.

So off to buy a helmet.  The only problem was finding a helmet that provided enough protection, and yet didn’t look too much like a medical device.

After looking at some terrible helmets, we came across the “No Shock”.  It’s a soft, adjustable helmet that looks more like an equestrian hat. It was one of the cutest helmets we could find that actually looked like a childs hat. It also has open spots on top to make it more breathable. A breathable helmet is more comfortable on a hot day in California.

We ended up buying the “No Shock” on Amazon.com.  It has turned out to be a fantastic helmet, and we’re looking at getting a second.  Easy to wear and size, and very versatile.  In this case, sometimes less is more, and the lack of cartoon characters makes it seem like we are simply overprotective parents, rather than carting around a child with a debilitating illness.

Hemophilia vs. Aplastic Anemia

Clark was born with mild Hemophilia.  And then, at his 1 year birthday, was also diagnosed with Aplastic Anemia. Both blood disorders affect clotting and bruising, and both could be fatal.  But how do they differ and how do they relate?  What does it mean to have both?

Hemophilia is genetic

Hemophilia was passed down to Clark genetically, and it is related to a missing “factor” called Factor VIII (pronounced “Factor 8”) or Factor IX (pronounced “Factor 9”).  When missing, the blood in a person isn’t able to congeal, or scab.  In severe Hemophiliacs, a person could get a small cut, or bump into a chair, and literally bleed to death.  In Clark’s case, he is mild.  Which means unless he gets into a car accident, or is having surgery, he really doesn’t have to worry too much.

Mild hemophilia, on its own, isn’t a life or death concern.  You can plan around it, and generally have a very full (albeit cautious) life with this condition.

Aplastic Anemia is deadly

Individuals can get Aplastic Anemia through several means. There are dangerous chemicals that can cause it (Benzene) and there are genetic conditions that can cause it (DKC), or it can happen without any clear cause (idiopathic).

Aplastic Anemia is where the body stops producing new blood cells.   It is characterized by 3 blood cell counts being low:

  • platelets
  • white blood cells
  • red blood cells

As these blood counts drop, an individual is prone to spontaneous bleeding (low platelets), getting a bacterial infection and not recovering (low white blood cells), and to becoming anemic (low red blood cells).

Aplastic Anemia will kill you.  It does it from the inside out, killing your body’s ability to fight back or repair itself.  It is a very dangerous and deadly disease, and can only be treated by a couple methods.  Both of those methods have to do with repairing the bone marrow in the body.

Where they intersect

So in the case where a person with hemophilia has Aplastic Anemia, you have an individual which has both low Factor VIII and low platelets.  These two items work together to create a scab.  Platelets form a “framework” and Factor VIII creates “fibers” that bind the framework.  Not having one or the other can be a big issue, not having either can be a HUGE issue.  Where Clark is only a mild hemophiliac today, we have to treat him as though he was a severe hemophiliac when he has low platelets.


In both cases, there are transfusions available to shore up numbers of either Factor VIII or Platelets.  Factor VIII only lasts a couple hours, so it is only given when an injury has occurred, or a surgery will occur.  Platelets last a little longer, often a couple days to a week depending on their age and quality.  These are often given once a week depending on when a patient’s platelet numbers have declined.