Author: Patrick

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.

Transfusions

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.

When we first learned that Clark could have Aplastic anemia, we were completely naive on the disease and its effects.  Here’s a simplified version of what we’ve learned so far.

What is it?

Aplastic anemia (a-PLAS-tik uh-NEE-me-uh) is a blood disorder in which the body’s bone marrow doesn’t make enough  new blood cells.  There are 3 types of new blood cells affected, red, white, and platelets.

Red blood cells carry oxygen to all parts of your body as well as carbon dioxide back to your lungs to be exhaled. White blood cells help your body fight infections. Platelets are blood cell fragments that stick together to seal small cuts or breaks on blood vessel walls and stop bleeding.

As your body stops producing these blood cells, there are many health problems that can occur.  Heart failure, infections and spontaneous bleeding are some of the top issues.  Gone untreated, severe Aplastic anemia will most certainly lead to an early death.

Aplastic anemia and Hemophilia are completely separate diseases, and have no commonality or causality. Clark has both diseases, unfortunately.  Read this post to understand how the two relate, as well as differ.

How do people get the disease?

People of all ages can develop Aplastic anemia. However, it’s most common in adolescents, young adults, and the elderly. Men and women are equally likely to have Aplastic anemia.

The disorder is two to three times more common in Asian countries.

Your risk of getting Aplastic anemia is higher if you:

• Have been exposed to toxins (such as Benzene)
• Have taken certain medicines or had radiation or chemotherapy
• Have certain infectious diseases, autoimmune disorders, or inherited conditions (such as Dyskeratosis congenita, DKC)

Is it curable?

Short answer is: yes, but the success rate is less than 100%.

How is it cured?

Treatments for Aplastic anemia include blood transfusions, blood and marrow stem cell transplants, and medicines.  Blood transfusions help only temporarily.  There are 3 ways to cure Aplastic anemia, in order of success rate:

1. Bone Marrow Transfusion from a sibling (80% chance of success)
2. Immunosuppressive Therapy (70% chance of success, if you don’t have DKC otherwise much less)
3. Bone Marrow Transfusion from a stranger (varies, depending on the quality of the match)

When it comes to Clark, #1 will not work for us, as Connor is not a match.  #2 will not work as it is suspected Clark has DKC.  So we are left with only #3, and are in process of finding a match.

What is the likelihood of finding a bone marrow match from a stranger?

To make a bone marrow transplant successful, it requires that there is a genetic “match” between the donor and the recipient.  Read more about the requirements for a bone marrow match here.

What is involved in a bone marrow transfusion procedure?

In short, it is a 1 year treatment, in which the recipients body is taken to a state of zero immunity for a period of 2 to 4 months, while the transplanted bone marrow starts to grow and “take root”.  It is a complicated procedure with many risks.  Read more about the procedure for getting a BMT.

Where can I learn more?

The National Heart, Lung and Blood institute is the best reference I’ve seen to date on Aplastic anemia.  If you prefer to read offline, use this link to print all the topics at once.

We had had several ugly situations occur where doctors and nurses were unable to draw blood from Clark, or put an IV into him. He has small, hidden veins, that tend to blow out when placing needles into them.  Unless someone is using an ultrasound machine to place an IV, we have never seen it be successful.

Through the 80 or so failed attempts we’ve seen doctors and nurses try and poke Clark, he has been incredibly stressed out as it often takes 4-5 people holding him down to try and place a needle.  He is extremely strong for his age, and he doesn’t stop fighting.

When we learned that Clark most likely had Aplastic Anemia, and that he was going to need regular treatments and blood draws, we opted to have a Broviac installed.

What is it?

A Broviac is a tube that runs through a persons chest, and attaches a catheder to a vein in your neck.  This is effectively an “open pipe” directly into your heart.  You can pull blood from it, or you can push medicine into it.  And IV can connect directly to it.  So no more needles are required.

There is a similar device, known as a Port (or Port-a-cath).  This device actually sits beneath the skin, and requires poking through the skin to access.  It has less maintenance, but also requires the individual be a certain weight.  Both have their pros and cons.

In asking our doctor which of these would be better, they recommended the Broviac for Clark.

Is it painful?

Quite the opposite. Once in place, you don’t feel any pain from blood extraction or medicine administration.  The Broviac is placed into a person though surgery.  You are placed under general anesthesia (chemically asleep) and are not aware of the procedure at all.

Why did we do it?

With the Broviac in place, Clarkie no longer requires any needles to be placed into his arms or legs.  It takes 15 seconds to hook up an IV.  Clark went from hating doctors visits, to actually enjoying them. Nurses would enter the room, and he would start screaming.  Now he waves, and loves to watch the procedures.  His stress level has been reduced to zero, and his happiness is at 11.

What is the catch?

Of course there is a catch.  Having an open pipe into your heart carries risk.  Bacterial infection being the key risk.  As such, someone has to clean and maintain this piece of equipment, otherwise Clark could very easily get sepsis and die.  So we have reduced Clark’s stress, but it doesn’t go away – it just transfers to the parents.

We now are responsible for taking care of this medical device.  It requires strict daily procedures, and even more strict weekly procedures.  Small tasks from “flushing” the line with heprin, to larger ones like blood pulls (filling tubes with blood to take to the lab) and changing his bandage (very complex procedure, fraught with risk).

Was it worth it?

Definitely. While Beth and I stress a lot about keeping this equipment clean and functioning, we are very releaved that Clark is not longer feeling pain or suffering when we have to visit the doctors.  And we visit a lot, 2-3 times a week on good weeks.

Can it be removed?

Yes, absolutely.  With very little effort, compared to the surgery to put it in.  They sedate you, tug the cable out, and apply pressure on the vein it was attached to.  It is typically done as an outpatient procedure.

Can it be accidentally removed?

Technically yes – someone could pull it, or it could get snagged, and be pulled free.  That said, the device has a “loop” inside the bandage (you can see this in the image) that allows for slack it does get pulled.  So while you have to be careful, it has been designed to be worn over an extended period of time.