A Dream is a Wish Your Heart Makes

Last week in Florida, all of Peter's most cherished dreams came true -- including the ones he didn't even know he was dreaming. 

There is no way we ever adequately thank the Make-a-Wish Foundation and the amazing staff and volunteers at the "Give Kids the World" village in Kissimmee, Florida.  We will never forget the hundreds of "cast members" and fellow visitors at each park who stopped to say hi, give Peter a high-five, and wish us a wonderful day.

Remember Cinderella's song, brought to life many years ago through the magic of Disney?

What do you say when your diabetic son begs for
cotton candy on his Make-a-Wish trip? "Of
COURSE you can!" and "God bless insulin."

A dream is a wish your heart makes
When you're fast asleep.
In dreams you will lose your heartaches.
Whatever you wish for you keep.

Have faith in your dreams and some day,
Your rainbow will come smiling through.
No matter how your heart is grieving,
If you keep on believing,
The dream that you wish will come true.

A dream is a wish your heart makes
When you're feeling small.
Alone in the night you whisper
Thinking no one can hear you at all.

You wake with the morning sunlight
To find fortune is smiling on you.
Don't let your heart be filled with sorrow.
For all you know tomorrow
The dream that you wish will come true.

When you can dream, then you can start.
A dream is a wish you make with your heart.

It will take me a while to put together a slide show that adequately conveys everything Peter, Leo, Annie and I experienced on Peter's "Wish Trip".  We walked in joy and were wrapped in love, every moment of every day.  We did everything Peter wanted to do, and he came home healthy and happy.

As many of you know, waiting in line for a ride at one of the Orlando parks can take an hour or more, and often the ride is only 2 or 3 minutes long.  With our Make-a-Wish t-shirts and buttons, we didn't have to wait in any lines.  When Peter said, "I wanna go again!" we could ... and did.

The most special part of Peter's wish was the chance to visit the Wizarding World of Harry Potter at Universal's Islands of Adventure.  I can't begin to describe how just how astonishing TWWHP is for a first-time visitor.  You are THERE, on Hogsmeade, drinking butter beer (yummy!)  You are THERE, inside Hogwarts, with virtual-reality characters like Dumbledore shimmering in front of you, looking and sounding so real that you can practically smell them.  The paintings on the wall talk to each other.  Every detail is true, and crafted with exquisite care.  The "Forbidden Journey" ride (the most technological advanced virtual reality experience ever created) is more thrilling than the fanciest, scariest roller coaster.  You are swooping through the air being chased by Death Eaters, then diving among the turrets of Hogwarts to evade them, then following Harry at lightning speed as he goes head-to-head with Draco Malfoy on the Quidditch pitch, and it is REAL.  You don't just see and hear it, you FEEL it as your body is tossed about in perfect synchronicity.  I screamed so much in terror and delight that I am still hoarse almost a week later.

I had a special wish for our visit to TWWHP that Peter didn't know about.  On Hogsmeade, groups of 20 are ushered into Ollivander's Wand Shop to experience "a wand finding its wizard".  Lines are long, but we were able to join a group only 5 minutes after we arrived in front of the shop.  Once inside, we were asked to stand a little to the right of the rest of our group.  The shopkeeper went about his preparatory mumblings and putterings and greetings and then looked at Peter.  "You, boy -- come here."  And so it came to pass that Peter, who has memorized every moment of every Harry Potter movie, became the young wizard whose wand would, in a few magical minutes, find him.  I stood in the corner with smiles and tears watching him performing the shopkeeper's instructions, including casting the "Wingardium Leviosa" spell ... and seeing something happen.

The Wand Finds the Wizard at Ollivander's on Hogsmeade

You can see for yourself how much this meant to him.  And if it makes you shed a little tear, consider it an unexpected gift from Make-a-Wish to you, courtesy of my very special boy.

Hand me a beer

Peter will have a pain-free "Wish", and chances are he'll be home safe on the 11th. 

I finally found a hospital -- a good 40 miles away from the "Give Kids the World" Village -- that would accept our Illinois Public Aid.  It has a well-regarded pediatric bone marrow transplant center, headed by a talented doctor with particular interest and experience in genetic bone marrow failure disorders.  Unfortunately, the doctor wanted to see and examine Peter before giving him platelets. So the proposal was that we spend most of Wednesday driving to and from the hospital for the doctor visit, and most of Thursday getting the platelets.  Um, no.

At this point I went back to my park-touring plans and reviewed every single thrill ride.  There were more than I remembered in the "virtual reality" category -- your chair throws you around a little while 3-d video makes you feel like you're hurtling through space.  I visited a few sites to figure out exactly what kind of movement would be the most dangerous for Peter and learned that any kind of g-forces (rapid acceleration and deceleration) were by far the worst.  Then I Googled "Orlando rides g-forces"  and sure enough, up came a list of the major thrill rides at each park with an estimate of the g-forces exerted on riders.  That made it easy to figure out which rides had to be "off the table".

In the course of hopping around the web I also discovered that there is a YouTube video (or three or four or 50) of EVERY SINGLE RIDE at EVERY SINGLE PARK in Orlando.  For rides that were on my "maybe" list, I watched the videos from start to finish to get a sense of the motion.  I also found a couple of ride review sites which rated the "scariness" of the rides.  Half of the "maybes" turned out to be just fine (or at least no more risk than riding a bike or having a football thrown at you, as Peter did this afternoon).  A couple of others had to be moved to the "no fly" list.  The remaining "maybes" are a little more vigorous than some might choose for a kid with low platelets, but they do not have substantial g-forces.

Then I went to Peter -- with a little support from Leo and Annie -- and told him that I had good news.  "Guess what!! You're not going to have to go into the hospital on Sunday for platelets, and you won't have to go when we're at Disney, either!"  (Peter: "YESSSS!!!")  "The doctor says you don't have to have anything at all as long as you stay off the really big scary rides.  (Peter: "Awww!! It's not fair!")  "Well, OK, if that's really important to you, we can go ahead and put you in the hospital twice.  It's your choice!"  (Annie and Leo: "Hey, WE'RE not going on those rides ... you'd have to go all by yourself anyway.")  (Peter: "hmmmm ... [pause] ..... YAAAYYY!!!!  No platelets!!!")

It's a beautiful thing.

Tomorrow at this time we will be all moved into our two-story villa at "Give Kids the World", with our rental van in the driveway.  We may be sitting by the pool with our legs in the water, watching the evening extravaganza.  Or we might be getting ice cream at the "whenever you want it" ice cream parlor.  Then again, Peter may be hanging out by the monster train layout with all sorts of buttons to push to control the trains, or sitting at the end of the dock fooling around with radio control boats.  He might be fishing at the pond where someone will bait his hook for him and make sure he actually catches something.  But probably not.  My guess is he'll be in the computer/ videogame/ arcade area, playing Wii for all he's worth.  And Leo and Annie?  They will probably have filled the fridge with cold beer, so we can sit on our front porch in our rocking chairs with a cold beverage.

Florence of Arabia and her trusty steed

This is NOT the hat and poncho
I will be wearing in Florida!

The limo comes at 6 tomorrow.  They send a "stretch", because it thrills the wish kid, who gets to sit up front with the driver.  Everything is paid for.  We have a debit card from Make-a-Wish with enough cash on it for all of our meals, souvenirs and incidentals. The bags are packed.  The kids are psyched.  Yeah, I guess I am too.  I never imagined in a million years that we would be a Make-a-Wish family.  It was something that happened to other kids in other families.  I'd give it up in a heartbeat if it would bring back the 95% of Peter's bone marrow that's gone.  But, since that isn't an option, we are going to have a BLAST.

It's supposed to be stormy most of the week in Florida, but I went out to Wal-Mart and got (for $5 each) some colorful ponchos to keep us dry in the rain -- AND when Shamu uses his tail to soak the audience at Seaworld.  The same ponchos go for $20 in Orlando.  I have an enormous quantity of sunscreen and my "Florence of Arabia" hat, which protected me so well in the Peruvian Andes this July.  The kids claim that they will all be wearing paper bags over their heads saying "we don't know that dorky lady".  Don't care don't care don't care.  I'VE got the debit card!

More from Florida ...
Chris

Make-a-What?

It's been a tough week on the Make-a-Wish front. Peter's hematologist, who approved the Make-a-Wish trip to Orlando 2 months ago without even THINKING about platelets, is now saying that he will not allow Peter to ride anything at all unless his platelets are at least 50.

He says the platelet infusion will only last 2 days but before riding anything the 2nd day, Peter needs to have blood counts done. Counts every 48 hours.

The M-a-W village is in Kissimmee, not far from the parks but a long way from the city of Orlando. The hospital that M-a-W recommends is Arnold Palmer Children's Hospital in Orlando. It sounds marvelous, but it's 25-30 miles from the M-a-W village, in the middle of the city, and we've been advised that the platelet infusion will take most of a day (including travel time, parking, registration, typing and matching, waiting for the platelets to be delivered, inserting the IV, waiting for the platelets to infuse, waiting to make sure there's no allergic reaction, and then driving back out to Kissimmee).

As for getting a blood count done, considering the location of the hospital, it will eat up at least half a day each time. He wants us to do it 3 times, plus spending a day getting a platelet infusion.

So the way it appears, we will be spending most of our time in Florida at a hospital. And yet:

WE DELIBERATELY CHOSE THE PATH WE ARE ON TO AVOID HOSPITALS!

We haven't even been in a doctor's office in months. Now Peter gets a trip of a lifetime and is expected to spend most of it at a hospital?

I burst into tears when talking with the nurse (the doc has been too busy to talk) and she said, "Well, tell him he can do everything else but he can't take rides. That's just the way it is." Right -- so YOU tell him, and then tell him again each time he sees a ride he can't go on. You explain to him why it's the way it is. He doesn't even understand that he's sick! He doesn't have any limitations here at home.

She said, "Lots of kids at Make-a-Wish are too sick to go to the parks. Everyone says that the village itself is a whole lot of fun. So, if it's going to bother him, just stay in the village." My problem? He's not too sick to go to the parks. He feels absolutely fine.

We could have chosen a different wish if the doc had raised any concern. We could have set expectations about avoiding exciting rides if the doc had raised any concern. As far as I can tell, no one looked at his chart and thought about him at all before approving the trip. In fact, had I not called started asking questions because I had developed concerns on my own, we would have gone to Orlando without any knowledge of risk.

Not only that -- Peter went to the 4th of July carnival in our town just a few weeks ago and rode rides all afternoon. No one ever told us any different. And, to be honest, he's had platelet levels <50 for at least 3.5 years, and we only found out about it last November. He's been to ... hmmm ... maybe 5 carnivals in that time?

I'm not trying to convince myself that this isn't a life-threatening danger, because it is. I've done the reading. He really could have a bleed in his brain. He really could die. So, hard as it will be, I'm willing to follow a modified plan:

-- Get the platelets on Sunday (though Peter will need Ativan as always to get through IV insertion and not rip the needle out of his arm).

-- Do rides on Monday and Tuesday.

-- No rides on Wednesday.

-- Platelets on Thursday (more sedative to get through the procedure ... never mind the screaming all the way there and the crying the night before).

-- Do rides on Friday and Saturday.

-- No rides on Sunday.

If I try to discuss this with Peter in advance, it'll just end in a screaming fit. But it doesn't matter whether we discuss it in advance or not. On Wednesday and Sunday, if we walk past a ride he wants to go on and I tell him again that he can't do it, he will beg and shriek and cry. He will be heartbroken. But I'm willing to gut it out to keep him reasonably safe. Two days with no rides and most of a day in the hospital. What I'm NOT willing to do is lose big parts of two additional days driving an hour each way to get blood counts done and then waiting for the results.

The doctor's nurse said, "Well, that's what the doctor says he wants, otherwise he's not going to let you go".

Oh really? He's not? Why didn't he speak up months ago? (I imagine he feels fairly panicked realizing -- once I brought the issue to the table -- that he approved the trip without thinking).

The thing is, the one thing that we have always emphasized to the doctor, and that's he's acknowledged and said he honored, is that we don't want Peter to live like a sick boy. That's why Peter goes to gym class. That's why he rides his bike. We chose this path for a reason. And we could have avoided tranquilizing him for platelets, spending most of a day in Florida getting more platelets (and tranquilizing him again) if there had been any foresight.

So now Peter gets "no, you can't do that, your blood is sick" and "sorry, we can't go to a park that day, you need platelets". And I'm the one who has to deliver that message, and hear him sob. He has bipolar disorder. He will rage and sob and scream and curse. He'll shriek "I HATE YOU!" to me over and over. He won't let anyone comfort him. His brother and sister will be embarrassed. It could go on for an hour, or even more. And not just once. It could happen several times.

We've told him over and over that this time, he can go on rides as much as he wants. I DIDN'T HAVE TO SAY THAT TO HIM! WHY DIDN'T SOMEBODY TELL ME??? WE DIDN'T HAVE TO BE DOING THIS!

We've chosen no interventions + palliative care for Peter when the time comes. In late May, his counts had unexpectedly gone up so much that the doc said we didn't need to see him for 3 or 4 months. If we were opting for aggressive treatment, we'd be in the doc's face. There's no way he would have approved the trip without bringing up the platelets issue.

We didn't have to plan this trip at all. Peter lives as a normal boy in his daily life. This trip will end up being all about being sick, about things he can't do. Yeah, there are lots of great things to do there, and yeah, he will enjoy some of them. But he will also cry a lot, and rage a lot. He shouldn't have to do that on his Make-a-Wish trip.

But ... I'm told that letting him ride a roller coaster is life-threatening. How can I ignore that? I love my son. Right now we don't see a particular limit on his time. He's most likely to die from an infection --eventually -- but right now his white count is pretty good. He could live for a year or two or three. So being dogmatic about this -- "he gets to do whatever he wants, damn the torpedos" feels like child abuse. He's happy in his life. He's not able to assess the risks. That's what a parent is for.

And then there's the idea of actually seeing him go up in the roller coaster and wondering if this will be his last day on earth. And blaming myself if it is. Because he will have gone to Florida as a healthy boy and come back dead, and it would have been entirely avoidable.

If you have a kid who is allergic to peanuts, you don't create a situation where you've promised him over and over that for once in his life, he can eat what everybody else does and then have to tell him -- while he sees everyone else eating peanuts -- that oops, he's sick, the doctor says he can't have them.

Though I am very torn up about all of this, I'm pretty comfortable with my revised plan. One day in the hospital for platelets, and probably we can get in some park time in the late afternoon and evening. Two "no ride" days. It will be hard, both for me and for Peter, but even that hinges on one critical factor.

Peter's insurance is Illinois Medicaid. He hasn't had any other insurance since we starting seeing our hematologist. We have trouble finding medical providers HERE IN ILLINOIS who will take Medicaid. Now what are the chances that Arnold Palmer Children's Hospital in Orlando will take Illinois Medicaid for a platelet infusion?

I have a call in to the hospital. I expect to hear from them tomorrow. I know they would take him into their E.R. if his condition was critical, but I can't imagine that they have ANY way to recover $$ from the state of Illinois for a pre-planned platelet infusion.

I can't avoid the question now and throw myself on their mercy later, because I have to know if we're going to get platelets or not. We can't go all the way to the hospital and be turned away.

I had a good cry in the ladies room at work this afternoon, and if we can't get platelets in Florida, tomorrow is going to be a pretty big washout. I am made of strong stuff but this just breaks me. Give a kid a chance to dream and then shatter it? Screw that.

My Wish

Peter & buddies at SPICE Indian Heritage Camp in June

We leave on Monday the 5th of September for Peter's Make-a-Wish trip -- me, Leo, Annie and Peter.  Carl, as usual, won't be coming.  His loss.  The whole trip is a dream come true.  They take us to and from the airport by limo, we get a rental car while we're there, we stay in a special Make-a-Wish village, we get six days of amusement park tickets and spending money for food and souvenirs.  In the village, there is ice cream 24 hours a day, a free games arcade, a water park, and all sorts of other amusements.  Some kids are too sick to go out to the big parks.  We stay in a little cottage with kitchen, laundry room, and everything else we could need.  We'll eat breakfasts and most dinners in the dining room there.  Medical care is available around the clock, and the kids are treated like celebrities.  When we wear our Make-a-Wish t-shirts and buttons to the parks, we'll get VIP treatment.  As it is there will be hardly any lines, but we may even get to go to the head of those. 

"Mom!  No more pictures!"

So, Tuesday will be the Magic Kingdom; Wednesday, Animal Kingdom; Thursday, Disney Studios; Friday, Universal Islands of Adventure (The Wizarding World of Harry Potter!!!), Saturday, Universal Studios; and Sunday, Sea World.  I've gone online and creating touring plans based on the kids' ages and interests and the desire to keep days not too strenuous.  We're not going to get up at the crack of dawn and try to get to the parks before they open.  We're just going to do the things the kids want to do, and then we can spend time at the village.  Peter will be hard to get out of that arcade!  Leo and Annie want to hang out in the bar.  Works for me.

The only thing I totally forgot about -- until yesterday -- was Peter's low platelet count.  He still seems pretty well, so I'm guessing his white count and hemoglobin are still on the high side of low.  But his platelets have never been higher than 45 during the past 3 1/2 years.  The latest reading (in late May) was 28.  Spontaneous bleeds (with no outside forces) are likely when platelets go under 10.  He went down to 14 in late February but recovered into the high 30s and low 40s thereafter.  But the platelets started heading down again within a few weeks.  Peter LOVES roller coasters and other "scary" rides that drop him long distances, throw him around, and turn him upside down.  So do Leo and Annie.  So all they talk about are the many, many "violent" rides in each park and how they're going to do each one of them 3 times.

Annie, Leo and Peter playing "Indian Idol" judges at SPICE

So I was standing in the shower yesterday when suddenly my blood ran cold.  All those g-forces, the shaking and rolling, the acceleration and deceleration ... for someone who is susceptible to a brain bleed, isn't that dangerous?  It didn't take long to find out that yes, it is very dangerous.  If we were trying to hold on for a transplant we wouldn't even let him ride his bike, much less take some of the biggest, scariest rides on the planet.  The risk is that when his brain sloshes around inside his skull, blood vessels will rupture and bleed, leading to a condition similar to shaken baby syndrome.  He might not have symptoms right away, but later in the day or at night he could get a really bad headache, nausea, dizziness, seizures, lethargy ... and that would mean that his brain was under pressure from all the blood, and his condition would be very grave.

Peter with Louisa and baby Aleiyah

I've been emailing with a special advisor, an expert pediatric hematologist who is in the process of adopting a little boy from India.  I met her on the Indian adoption listserv where I've been hanging out for 15+ years now.  She has already been incredibly helpful to me with her medical advice but even more so by validating and supporting my choices.  She tells me I'm doing a good job.  I really need to hear that!

Her practical advice fits with my own inclinations, which is to take Peter and let him do whatever he wants, but be ready to make decisions if the need should arise.  Do I want a total DNR (do not resuscitate) or a selective DNR?  Would I allow his skull to be tapped to relieve pressure?  How about surgery to remove a piece of his skull?  If he can't breathe on his own, do I want him intubated?  If he is doing OK and then "codes", do I want them to "beat on him" and use the paddles in case they can "bring him back" whole?

Sparklers! Peter's favorite part of SPICE!

Of course I can't really answer these questions, except to say that I will try to make the best choices I can at the time.  It would help me so much if Peter's dad would be involved with this, so that I didn't have to own all the consequences by myself.  (Did I let him go to soon? Did I wait too long and let him suffer too much?)  Thankfully, my parents will be with me on the phone no matter what happens, and they are very, very wise.  They will help me when the time comes.

This trip is suddenly terrifying.  What if he seems a little dizzy coming off a ride?  What if Annie tells me he bumped his head?  What if he says he's got a headache?  What if he feels queasy?  And how will I sleep at night without checking him constantly, since any symptoms of brain trauma might well show up then?  I've spoken to Leo and Annie about this, and they absolutely, positively don't want to deal with it.  Peter is very normal at the moment and "Mom always expects the worst and goes overboard."  Peter's dad says the same thing.  Apparently by even bringing up these possibilities, I mark myself as a hysteric.  Believe me, the most hysterical thing I've done through all of this is cry quietly in my own room and tap out these messages.

Peter with Annie and Harry

I do not expect the worst.  I expect to come home with a happy and healthy Peter, and hundreds of great photographs.  But I must, I MUST at least PREPARE myself for the worst.  If he should have a bleed on our trip, I have to swing into action without falling apart.  I'll have Leo and Annie to think about too, not just Peter.  And I won't be at home, where friends and neighbors can steady me. 

My correspondent and another close doctor friend have suggested that Peter should get an infusion of packed platelets before he goes to Florida.  I haven't planned on that, but it is certainly do-able.  The only thing is, infused platelets only last 3-4 days.  If we gave him an infusion on Friday, most of it would be gone before he hit his first roller coaster.  So that's the long and the short of it.  I hope Peter and I will both see our wishes fulfilled, but if someone has to lose, let it be me.  I'd rather come home without him than tell him he can't do everything he wants to do now.

Smarter than we thought

Peter's need for insulin has been so low during the past 3 months that he's rarely had more than one injection a day.  We've been amazed at his consistent blood sugar readings from hour to hour and day to day.  And I'd started to notice a lot of missing food, and empty ice cream bowls in the sink.  Gosh, I thought, he's got to be sneaking food.  But it doesn't seem to be affecting his sugar.  What the heck could be going on?  We know Peter is genetically "different", but is this really possible?

Today Carl took Peter to the endocrinologist for a checkup and to put the final touches on his diabetes management plan for this school year.  Peter must have assumed that his secret wouldn't keep, because while waiting to be called he confided in Carl that he had been putting down erroneous readings in his log book.  (We've been letting him handle his testing on his own for some time now, as long as he calls out his readings to us while writing them down). 

This all began after our last appointment when the doctor spoke to Peter about the cheating he was obviously doing.  There was no other explanation for readings that went sky high between meals after giving him sufficient insulin to correct for any excess sugar and cover what he ate.  So Peter went undercover, chosing values in the 100-120 range seemingly randomly.  And then he ate exactly what he liked.  When Carl got home, he checked the memory on Peter's testing device and -- yeowch! -- there were many, many readings over 200. 

Peter is typically a really bad liar.  ("Where did you go Peter?  You didn't ask permission!"  "Not to 7-Eleven, Mom!")  But this time -- 60 IQ and all -- he created an incredibly believable remission from diabetes.  He heard the doctor telling me that some kids experience a "honeymoon" period after they are first treated with insulin, which can last up to a year.  Well, Peter's self-initiated honeymoon allowed him to eat a LOT of high carb foods.  No WONDER he's put on so much weight!

Now we're back to the original problem: cheating.  Twice this evening I've heard him rustling around in the kitchen, doing "nothing, Mom, just checking something."  The second time I heard him close the door of his room very, very softly.  I suspect surreptitious eating, but I'm loathe to burst in on him.  His bipolar medication gives him terrible carb cravings.  And, as a fellow sufferer who never met a sweet thing she didn't want, I am soooo sympathetic. 

If anyone has any brilliant ideas about keeping a compulsive eater with no self-discipline from packing in the carbs and packing on the pounds, I'd love to hear them.  So would my bathroom scale, my sore knees, my aching feet, and all the clothes in the closet that I can't fit into.

It's (almost) all good!

Two doctor visits for Peter this week.  We saw his endocrinologist on Wednesday.  I asked her about Peter's dramatically reduced insulin needs during the past couple of months. She said that people often have a "honeymoon" period when the pancreatic cells that are still alive start producing some insulin again after being in diabetic "shock".  Eventually they will be destroyed as the other ones were, and Peter's insulin requirements will go up again.

We've decided for the time being that we are not going to do anything about Peter's puberty.  We are seeing a lot of startled looks when he tells people he's 16, but he really doesn't seem to notice.  He isn't asking for his body to grow up.  In fact, he seems to prefer that it doesn't.

Today we saw Peter's hematologist.  We got permission from the hospital's God-knows-what committee so that they can draw blood at their lab and send it to various places for research use.  So when we drew blood for routine tests today, we drew an extra tube for the researchers at Rockefeller University who run the IFAR.  IFAR stands for "International Fanconi Anemia Registry".  Peter probably doesn't have FA, but he fits the profile perfectly, and the IFAR people say that one negative chromosome breakage test isn't conclusive.  They'll actually study all the genes that are known to be implicated in FA and see if any of his match.  They'll also bank his DNA for future study.

I was hoping that we could draw blood today for the chromosome testing to see if Peter has DC (Dyskeratotis Congenita), but it didn't happen. DC is even rarer than FA, and Peter fits its profile pretty well too.  After FA and DC, no other genetic bone marrow failure syndromes have been named (too few cases, not enough data), but there are clearly people who have a syndrome yet do not have FA or DC.

There seem to be two major ways in which these syndromes lead to bone marrow failure.  In FA, there is a defect in the DNA's built-in repair mechanism.  We all take "hits" to our DNA all the time, but it normally comes with the ability to mend itself.  People with FA can't do that well.  So the stem cells in the marrow gradually die away.  If the person doesn't die from aplastic anemia, it's from cancer due to the underlying DNA repair problem.  That's why people with FA who have successful bone marrow transplants still have a shortened lifespan.  They eventually get tumors which are especially hard to treat.  Chemo and radiation really do a number on cells. When the DNA can't repair itself ... well, you get the picture. (If there are any scientists among you, please forgive my ignorant and awkward attempt to describe something that I don't fully understand.  I think I have the overall gist right.  Please correct me if I don't.)

The chromosome breakage test for FA is pretty simple.  There's a particular chemical that is very hard on DNA.  If someone's blood is treated with that chemical and the chromosomes quickly break into pieces, that's FA.  Of course, it's never as simple as that.  There are not a small number of people with FA whose chromosome breakage tests are negative.  Then there are people with positive chromosome breakage tests who never show the slightest sign of bone marrow failure.  Many genes have now been implicated in FA, but genes don't work alone, and there are a dizzying number of possible combinations, not only within the identified group of genes but with others not yet identified.  Compared with what we'll see in another 20 years, classification of these disorders is very rough right now.

People with DC have an entirely different problem.  They have short telomeres.  What I've been told is that the telomeres are like the little plastic bits at the end of your shoelaces that keep the strands from unraveling.  When the telomeres are short, they don't work very well.  As DNA replicates and replicates over the years of a person's life, more and more strands lose their telomeres and unravel.  Once again, the stem cells in the marrow gradually die off.

There's a reason why it's the stem cells that die first.  The blood-producing cells in the marrow are the most rapidly growing cells in the body.  Compared with other cells, they have replicated millions more times.  They really need robust DNA to keep on replicating normally.  When there's an underlying defect, their engine starts to falter.

Because no two cases of genetic bone marrow failure seem to be exactly alike, there's just no way to predict what's going to happen to Peter.  In the near future, some of his blood will be sent to a special lab in Vancouver by some researchers at the National Institutes of Health in Bethesda.  There, his telomeres will be studied.  What's interesting is that there are some people with very short telomeres who don't match any of the defective genes that have been implicated in DC.  So it appears that DC may be the most common of a group of disorders all characterized by telomere dysfunction.

The people at Roosevelt should have genetic testing for FA done in a few weeks.  They are a research lab, not a clinical lab, so those results are not "official".  By law, they can't be reported to us, and they can't go into Peter's file.  But our doctor can tell us about them.  If we want them to be official, we have to have them repeated by a clinical lab.  If Peter does have a defect that matches one of those known to be associated with FA, I'd certainly want to get that information into the record.  Whether Public Aid will pay for it is another matter.  They won't pay for the genetic testing for DC nor the way-out-there telomere study.  Fortunately, the people at NIH will cover the latter.

Peter is at his most perky right now.  His hemoglobin is higher than it's been in 3 years.  He's actually riding his bike to school again!  We can't predict what will happen next, but he could stay like this for a while.  His counts will go down when he gets any kind of infection or suffers major stress.  At some point it will be hard to keep him well because his infection-fighting ability won't be able to recover well enough.  But that could be ... gosh ... even years in the future.  It is also possible that Peter's marrow is having a "honeymoon" similar to his pancreatic cells' "honeymoon".  It had to work very, very hard to keep his counts up during the months when his diabetes was getting out of hand -- and indeed, it didn't entirely succeed.  So we may well see a dropoff over the next six months as the honeymoon ends. 
Our hematologist says that bone marrow seems to have excess capacity allowing people with very little of it to remain healthy in some cases.  The rule of thumb for normal marrow is that its cellularity should be 100 - the person's age.  I'm 54, so my marrow should be around 46% cellular.  Peter is 16, so his should be around 84% instead of the 5% measured last November.  There are actually quite a things that can cause marrow cells to die off.  Auto-immune processes, exposure to certain drugs or chemicals, radiation, chemotherapy, sometimes infections.  When the problem isn't genetic, there is at least the possibility for the marrow to gradually recover its cellularity.  But when the problem is right inside the cell, it will eventually hit a point where its DNA can no longer replicate and then it will die.  One by one, his marrow cells will inevitably hit the wall.

But back to the happy stuff!  Peter will really be able to enjoy SPICE this year, though his new Indian outfits may not fit.  Unfortunately, he's gained back 15 pounds, and is looking much more corpulent again.  If I ask him to try the outfits on, no matter whether he can get into them or not he'll have a big screaming meltdown, insisting that they do indeed fit. So I'm just going to bring them, along with his favorite two from last year, and we'll see what happens.  The weight gain is one of only two elements of this story that are not "all good".  His endocrinologist would like him to go on a more restricted diet but there is no way on earth for us to make that happen.  Just now it was time for his bedtime snack and he wanted a peanut butter and jelly sandwich.  Well, he took in plenty of calories all day, and he's only supposed to have a 15-carb snack.  Not only that: the carbs in peanut butter are fairly low, but the FAT content and calories are high.  I told him he could have half a sandwich, not a whole one.  He immediately started to shriek.  "LEAVE! ME! ALONE!"  "It's MY body!"  "You never let me do ANYTHING!"  "I hate this family!"  It went on for a good half hour, at high soprano and maximum decibels.

I know a few of my readers have kids with bipolar disorder, so they'll understand what I'm talking about.  That's the other thing that's not all good.  Peter has a lot more energy now to be ragingly bipolar.  Things were a lot quieter for a while.  That was nice.

A Tree Grows in Skokie

Peter's been pretty perky the last three weeks or so.  He played some basketball with a neighborhood friend and actually rode his bike for quite a while last weekend.  I had suspected that his counts were probably up across the board.

Well, they certainly ARE up.  They are almost exactly at the level seen 3 whole years ago when we had no idea he had any issue.  I don't believe he DOESN'T have a bone marrow failure disorder.  Our hematologist strongly suspects the next-in-line-after-Fanconi diagnosis, a disease called Dyskeratosis Congenita.  It comes with many of the same issues and anomalies as Fanconi, but the underlying genetic defect is different.  We hope to test him for DC in a few weeks, once we verify that Medicaid will cover the testing.  It's not cheap.  The doctor said that while he hasn't actually seen a case of DC, before there was genetic testing, that would have been the presumptive diagnosis.  Average life expectancy for a person with DC is mid-to-late 20s.

So my head is spinning right now.  If these levels persist, then I want to get Peter back into regular gym (he's going to scream bloody murder!)  I already told him that his blood is back the way it was 3 years ago, and that means there's no reason for him to feel weak and shaky any more.   He completely balked at this idea, no doubt because he's really enjoyed having the "Monday morning shakies" almost every week for the past few months.  No more shakies!  We're going to have to talk to the school nurse and ask her not to send him home so readily if he has the Mom-made-me-go-to-school-on-Monday-but-I'm-going-to-come-home-now shakies.  I'm really glad we have been keeping his life as normal as possible.  It made sense.

I feel odd and awkward about the events of the past 6 months.  I followed the best medical advice I was given, and that advice told me to contact Make a Wish and hospice.  Now there's a tree growing in our local park for a boy that could be here in five years.  Or maybe not.  This is all so hard to grasp.  I DO want the genetic testing, because if it is DC, that gives us a much better sense of Peter's trajectory.  And then shouldn't we return to our plan of starting hormone treatments so that Peter can go through puberty?  If he's likely to live for several more years, or even a decade, then he needs to become a man.  He shouldn't be a permanent 4th grader with a little boy's voice.  He deserves all the dignity we had originally wanted for him.

We have a comfort blanket and a comfort shawl from a dear friend at SPICE, to help both of us go through the challenges that were facing us.  Now I feel like a charlatan, like the mom who cried wolf!  But I saw the numbers, and the direction they were going.  Peter's sugar was a little high but not in the diabetic range in October of '10.  But his blood counts were already low enough for a diagnosis of aplastic anemia.  And his biopsy -- only 5% cellularity.  How long can a kid live with only 5% of his bone marrow?  Oh, this is all so darned hard!  Do we dare celebrate?  And that tree -- can I drive by the park and not feel embarassed that it's there?

Sometimes even the best news makes a person cry.