Blood Counts

The latest blood results are in.  All of Peter's counts remain abnormally low and are not expected to recover. 

 

White count:  Has continued to decline slowly since baseline on October 22.

 

Red count:  Had been steady but is now up a bit driven by Hemoglobin

 

Hemoglobin:  Had been steady but is now up a fair amount.

 

Platelets:  Have fluctuated, but latest count is lowest ever.

 

I'm told that when the counts get really low, they can fluctuate somewhat randomly from test to test.  The tests are only accurate to within a certain range.  Peter's platelets are already so low that 23 may or may not be significantly lower than 30.  But in the bone marrow examined on 11/3, there were almost no platelet precursors.

 

Supposedly, spontaneous bleeding doesn't become a big risk until platelets are below 15.  At that level, there is usually bruising and little red dots where capillaries have broken under the skin.  Bleeding of gums and nose is common.  Bleeding behind the eye can threaten sight.  The most serious bleeds are in the head or gastrointestinal tract.  It's common for them to be fatal.

 

Peter's white count shows that he is at increased risk for infections but not yet highly susceptible.  He caught a cold in Kolkata which lingered a while but was never severe.  In the blood examined on 11/3, most of the white cells were mature, and there were very few white cell precursors in the bone marrow.  Since white cells have about a 30 day lifespan, I'm not surprised that the white count is down again 6 weeks later.  But among the various types of white cells, Peter's lymphocytes are doing best.  These are important infection-fighters so it's good to see them holding on.

 

The increase in Peter's Hemoglobin seems too big to be random.  Although the sample of his bone marrow that was biopsied showed less than 5% cellularity (<5% of expected stem cells were present), there was an abnormally high number of red cell precursors there.  So ... more precursors then, more Hemoglobin now?  Red cells live for 3-4 months.  So ... higher Hemoglobin (still abnormally low, but higher than earlier tests) for at least that long?

 

The doctors tell me that bone marrow failure often goes in fits and starts. Counts can drop quickly and then plateau for a long time.  One count can improve while another declines.  If we could see into the bone marrow as often as we do blood tests, we could have a better sense of what is coming down the pike.  All we know about Peter's marrow is that in very early November, it had a lot of red cell precursors.  We aren't planning to do another biopsy.

 

My research suggests that elevated red cell precursors may be a consequences of abnormal destruction of red blood cells (hemolysis) either in the bloodstream (auto-immune) or, more typically, in the spleen. I know another Indian child who has had very low red cells and platelets but normal white counts.  It was determined that her spleen was destroying red cells and platelets, and she just had it removed last week.  Her parents are hopeful that this will rectify her blood problems, although living without a spleen means that it'll be harder for her body to fight infections.

 

I've never really understood what the spleen does.  I know that people can live without one, so why do we even have them?  It turns out that the spleen does 3 important things:

• Filters out and destroys old and damaged blood cells
• Plays a key role in preventing infection by producing white blood cells called lymphocytes and acting as a first line of defense against invading pathogens
• Stores red blood cells and platelets

Peter's hematologist palpated his abdomen to see if his spleen was enlarged.  An enlarged spleen is seen in a number of different blood disorders.  When the spleen gets too large, it begins to filter normal red blood cells as well as abnormal ones, reducing the number of healthy red cells in the body. It also traps too many platelets. Eventually, excess red blood cells and platelets can clog the spleen, interfering with its normal functioning.

 

Unfortunately, Peter's obesity made it impossible for the doctor to feel his spleen.  Apparently enlarged spleens are often associated with enlarged livers.  The doctor talked about doing an ultrasound of Peter's abdomen to look at both of these organs.  I'm not sure if any of this really matters in a person suffering from a genetic bone marrow failure syndrome. Were we to observe an enlarged spleen, is there anything we can do about it?  I suppose that surgery could still be done with Peter's current platelet level.  But removing the spleen weakens the body's immune system, and with his white count going down, he's already immuno-compromised.

 

As I was looking over all of the test results, I noticed that Peter's Hemoglobin A1 (adult type) is low and that his Hemoglobin F (fetal) is high.  The hematologist told me that elevated Hemoglobin F is seen in a number of blood and marrow failure disorders.  Two of the most common genetic disorders are Thalassemia (seen most often in the Middle East, Asia and some parts of Africa) and Sickle Cell Anemia (seen most often in Africa).  Elevated HgB F is also seen in Fanconi's Anemia, which Peter does not have.

 

I found an interesting piece of research online (from the journal "Pediatrics") relating to diagnosis of specific bone marrow failure disorders.  Fanconi's Anemia is the most common, albeit so rare that it is called an "orphan" disease.  There are only a couple of other disorders that have been clearly identified.  Beyond that, complete molecular testing can reveal where the DNA abnormality is located, but that isn't very helpful.  "New" (previously unidentified) abnormalities are found all the time, and there are many others that have been found in one or two or a handful of people -- too few to characterize any kind of "syndrome".

 

It's hard for parents not to know exactly why their child's bone marrow is failing.  It's especially hard when the parents are considering having more children.  How can you screen for something that doesn't have a name or a practical genetic test?  Complete DNA analysis at the molecular level isn't something that can be done on a whole bunch of embryos to determine which of them are normal.  It's a long process, and it's very expensive. 

 

Children with unclassified syndromes often go through test after test to try to get to a specific diagnosis.  In the meantime, their blood counts continue to drop.  The only "cure" for bone marrow failure is a bone marrow transplant, typically from a well-matched healthy sibling.  Transplants using marrow from an unrelated donor have a much lower success rate and a much higher incidence of long-term side effects that can undermine quality of life.  But how can a family know whether a sibling is healthy when they don't know exactly what is wrong with the affected child's DNA?

 

But we are not biological parents, and we are not pursuing a bone marrow transplant.  So it really doesn't make sense to push for extensive genetic testing in Peter's case.  And that leads me back to the question about an enlarged spleen.  Do we care?  Will knowing that it is or isn't enlarged make any difference to Peter's long-term outcome?  This is a good question for the hematologist.  I'm guessing that the answer is no. 

 

And then there's the short-term outcome to consider.  We need to find out whether there are any tests whose results could give us the opportunity to give Peter more "good time".  I define "good time" as time when Peter can live relatively normally, do pretty much what he wants to do, hang onto psychiatric stability, NOT spend time in hospitals, NOT have frequent blood draws or other tests, NOT think of himself as a sick person.  Perhaps I am being overly restrictive here.  I can't ask Peter what "good time" means to him.  All I know is that whenever he has to see a doctor (for anything) or get a test, it's NOT a good time.

 

I asked the hematologist if he could hook me up with a counselor or therapist or social worker with experience in making end-of-life decisions for children.  He and his staff couldn't come up with anyone.  I suppose I should call Children's Hospital to see if they have any resources we can tap.  Things are especially complicated with Peter because of his bipolar disorder.  He is so easily destabilized, and when that happens, there are NO good times.  I wonder if there is anyone on earth who has experience in end-of-life decisions for mentally retarded, mentally ill children with genetic blood disorders?  Well ... fast forward a little and there will be me.

 

I was also struck by comments in the "Pediatrics" study about the overlapping clinical features of many genetic marrow failure syndromes.  Peter has quite a few physical anomalies, but in reading about the 3 most common syndromes, I discovered that many of his anomalies are common to all three -- common in the sense that some percentage of people with those syndromes have those anomalies.  None of the syndromes comes with a "must have" list for anomalies, just a list of anomalies that are sometimes seen.

 

This overlap makes even more sense to me after seeing the young man in India who looked like Peter's twin.  They have so many characteristics in common, yet it's clear they suffer from different syndromes based on some important things they don't share in common.  It would be so interesting to know exactly where the other boy's DNA defect is as compared with Peter's.  Entirely academic, but still interesting.

 

All this researching and reading and analyzing and thinking must sound pretty compulsive.  Heck, yeah. I have no illusions that it will change anything, but I feel stronger knowing more. It will help me continue making good decisions as time goes by. As far as tracking the blood counts is concerned, that too is a largely academic exercise.  The doctors say that there is no specific schedule for testing Peter's blood.  I imagine we'll want to get new numbers every couple of months so that we can prepare ourselves for some of the things that might happen when the counts get very low.

 

With today's results in hand, I expect that all three of the Futia children will be in Johnstown, PA this June for our beloved SPICE Indian Heritage Camp.  This will be Peter's 17th consecutive year in attendance. We all need Peter to have one more SPICE.