It's confirmed

In September we sent Peter's blood to a specialized lab in Vancouver to study his DNA and measure the length of his telomeres.  Telomeres act like the plastic ends on your shoelaces, preventing your DNA from "unraveling".  Someone with short telomeres generally has a lower life expectancy, and it's been observed that some of the longest-lived people have unusually long telomeres.  There are two major categories of genetic disorders leading to bone marrow failure.  We had ruled one out -- a defect in the body's DNA repair mechanism (of which the most common disorder is Fanconi Anemia).  The results of the telomere test, which I heard about yesterday, confirm that Peter's defect is indeed in his telomeres and telomere biochemistry.  His presumptive diagnosis is Dyskeratosis Congenita, an orphan disease even rarer than Fanconi Anemia.  About 200 cases have been described in the international literature.  It's estimated that incidence is 1 in a million.  All of Peter's other signs and symptoms are highly suggestive of DC, and his hematologist started to suspect DC from the beginning, though he had never seen a case with his own eyes.

Nothing new comes with the diagnosis ... except ... I surprised myself by bursting into tears and sobbing my heart out when I heard it, because I had almost convinced myself (subconsciously) that Peter's current vim meant that his bone marrow might not have failed, that maybe there was more than 5% working now, and all of this was a fading nightmare.  Yes, he really is going to die young.  Before he's 30, probably, from infection due to a low white count, or bleeding due to low platelets.  The longer he lives, the higher the chances that he will develop leukemia or aggressive cancer.  Unraveling DNA does bad things.  Cancers can't be treated effectively because a person with DC can't tolerate chemo or radiation, which are already harmful to DNA.

Of course, it's also good to know for sure what is going on, to have a name, and to be able to join a support group.  There aren't nearly as many resources out there for DC families as there are for Fanconi families, but there are still a few opportunities.  I'll be joining in a Skype call next Sunday.  It will be good to connect with other moms and dads like me.

As usual, this new information prompted a wee-hours literature search online, to glean anything new I could find about DC and other telomere disorders.  I am very eager to hear (eventually) about the results of DNA sequencing currently underway at Rockefeller University.  They have a sample of Peter's blood and are putting his DNA through a rapid sequencing process that focuses on a relatively small part of the genome where the majority of genetic disorders have their origin.  As in Fanconi, there are a number of different genes that are implicated in DC.  There is evidence of differences in the course of the disease depending on the type of inheritance (autosomal recessive, x-linked, autosomal dominant) and the gene(s) involved.  The length of the telomeres is a factor in life expectancy, but there are other telomere chemistry disturbances that also play a role, so length alone doesn't say much. 

Based on Peter's signs and symptoms and age of bone marrow failure onset, I am guessing that he has an autosomal dominant form and that his defect is in the TERT, TERC or TINF2 genes.  That means less of the visable signs that make for an earlier diagnosis in many cases: degrading fingernails, web-like pigmentation differences, and white patches in the mouth (leukoplakia).  If I'm right, then his course will be characterized more by bone marrow failure, leukemia and malignancy.  30 would be a good guess as to his "likely" life expectancy, though that is just an average, and with his bone marrow failure already apparent, that is probably a stretch.

In addition to all of the above, I learned some amazing things from the explosion of research in DC that has recently happened.  One of the reasons why scientists are so interested in DC is that some of its symptoms are similar to premature aging.  Understanding the mechanisms behind a genetic telomere defect will carry over directly to a better understanding of the aging process -- and possibly finding ways to increase healthy longevity in genetically normal people.  You can only imagine how big a deal THAT would be!

So ... shorter telomeres are linked to stressors during pregnancy.  My poor little guy inherited his disorder, but most likely it was exacerbated by what must have been a really difficult prenatal environment based on what little we know.  Neglect and deprivation are also linked to shorter telomeres.  At least we don't have that to feel bad about.  A very recent study demonstrated that people with DC (and short telomeres) are much more likely to have diabetes (an age-related disorder in most people).  There is also a newly-discovered link between short telomeres and ... wait for it ... BIPOLAR DISORDER.  All of this is new in just the last few years.

After the recent learnings about aging and shortening of telomeres, there are companies offering telomere analysis to predict a person's likely lifespan.  Do not be deceived.  The scientists who really understand this stuff say that the best simple predictor of your lifespan is still your date of birth.  Think of all the money that will be spent on this nonsense by people who believe the hype.

Peter continues to be hale and hearty.  His latest blood counts were almost identical to the previous round of tests last summer.  His white and red counts are just below normal.  His platelets remain very low (around 25) but that is not a "dangerous" level yet.  We got him a flu shot.  Last winter he was very healthy except for the diabetes that nearly dispatched him to the beyond before we identified it.  Ever since we treated the diabetes, he's been much better.  However, he is needing more and more and more insulin these days.  Early organ failure is part of DC.  People can even develop prematurely grey hair.  Peter's pancreas is clearly toast at this point.

I wish I had a picture to share from the Homecoming Dance last weekend.  Peter's special ed group went out to dinner at a nice restaurant and then went to the dance, where they had a special area and refreshment table for those who wanted it.  Not Peter.  He was out in the middle of the floor.  He doesn't want to hang out with (his words) those "handicapped kids".  He didn't dance WITH anyone, but he says he danced.  I believe him!

At the start of school, Peter's drama teacher from last year, who has taken a shine to him, asked him to be her assistant for the year's first musical, Xanadu.  So Peter has been caught up in a whirl of rehearsals where he has become an integral part of the cast and crew.  It's not clear what he really does, but it's very clear that he loves it and that everyone loves him.  Performances started on Thursday and continue through tonight.  On the first performance day, Peter was presented with a card signed by everybody involved.  He wouldn't let us look at it ("I got a card but you can't look at it because it's mine and I want to 'treasure it' on my own.")  Of course I sneaked a peak.  My eyes welled up.  An outpouring of love.  Last night he came home with a small bouquet of roses, given to him by one of the leads in the show.  Tonight he'll experience the incredible fun and emotion of a cast party. Since he has another 4.5 years of high school, this is a wonderful development in his life.  Something important to be part of.  There is even the possibility of community theater down the road.  What a blessing!  Drama was one of only 2 or 3 "regular" classes he'll ever take.

I tried to talk to Peter about getting something nice to wear to the Homecoming Dance, but he refused to discuss it -- typical bipolar behavior.  Then the night before the dance he suddenly wanted a sport coat.  A sport coat?  For a kid under 5 feet with a 44" chest?  He begged.  I couldn't imagine where to go, but eventually settled on Men's Warehouse.  I knew that for Peter, if he had to roll up the sleeves, it would be OK as long as he had a sport coat.  So in we went, and with great gravity, Peter asked for a sport coat in his size.  The salesman measured him and immediately found a jacket that looked perfect.  He quietly slipped it onto Peter and then -- magic.  Peter stood in front of the mirror and his eyes just sparkled and sparkled.  "I think I'll take this one", he said, with enormous dignity.  It fits perfectly, and the sleeves are only an inch too long.

Before we went shopping, I found a pair of khaki dress pants that I had bought before Peter lost all the weight last winter due to untreated diabetes.  Time was short, and my sewing stuff is packed due to my upcoming move, so I hemmed them with duct tape.  (He's gained back all the weight and more, so they fit well).  I figured he'd be happy with dress pants and a jacket.  But after we bought the jacket, Peter suddenly said, "OK, mom, now we need dress shoes".  DRESS SHOES?  This boy wears the same pair of sneakers year in and year out.  He'd wear the same pair of socks if he could.  It is like moving a mountain to get him to change his socks.  The stench can be dreadful sometimes.  So off we went to Payless.  I was anxious, because he rarely shops without a loud meltdown in public, and he had done so well at Men's Warehouse.  I hoped we would find something quickly, but Peter's feet are malformed and therefore odd-shaped.  We were lucky to bump into a neighboring dad who knows Peter well and -- in his youth -- sold shoes.  He helped us find a perfect pair of slip-ons that Peter insisted on wearing out of the store.  We couldn't leave, though, until he got some dress socks too.

I assumed that Peter would wear one of his spiffy extra-short extra-husky polo shirts with his new dress clothes.  When left to his own devices, he typically puts on a polo (with jeans and sneakers) when other kids are dressing up.  Thus, I was shocked and appalled when he came out of his room proudly wearing ... ugh ... a huge baggy men's v-neck undershirt from Wal-Mart.  I had just bought some for him to keep him warm under his shirts and hoodies this winter.  I did everything possible to convince him that an undershirt that was longer than his sport coat was NOT COOL (even daring to induce a meltdown) but he could. not. be. moved.  He loved the undershirt, because it was a MEN'S undershirt.  So off he went with great pride.  I only wish he had allowed me to take a photo. He did look absolutely marvelous despite the undershirt.

That's my Peter.  Making ever day count in his own peculiar way.  May it always be so!

This is Peter with baby Aleiyah, the daughter of Rani Shields, a member of our very special SPICE family.  She and her mother and sister came over from Tampa to the Give Kids the World Village one evening while we were on our Make-a-Wish Trip.  Peter LOVES babies.  I'm hoping that maybe he can have a part-time job in a daycare center when he finishes school.

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.

Dubai and after

 

Peter and Gokul-Uncle



Peter and Sheela-Aunty

Peter's trip to Jordan, Dubai and Sharjah

Click here for the slide show!

Peter and I returned from Dubai on Sunday April 3rd.  We both caught colds from Sheela-Aunty and Gokul-Uncle, but despite his low white blood cell count, Peter weathered it much better than I did.  What a nasty piece of work!

Flying on Royal Jordanian was an interesting experience.  At our gate in Chicago, we watched some of our fellow passengers facing Mecca and praying while waiting for the flight to depart.  When it came time to board, a dozen TSA officers formed a gauntlet through which we all had to pass.  Every passenger was carefully scrutinized, to say the least.  My feelings were mixed.  On the one hand, I have struggled with Islam since well before 9/11, and when the attacks happened, I knew that life would forever be divided into pre- and post-horror.  On the other hand, most of the travelers (beards, skullcaps, hijabs and burkas not withstanding) spoke with American accents.  I can only imagine how awful it must feel to be an Arab-American right now.

Despite all the uprisings in the middle east, things were fine during our transit through Amman, Jordan.  We had a great lunch at a restaurant in the airport topped off by exquisite gelato.  (The middle east seems to be full of exquisite gelato!)  The food on the flight was particularly odious, so it was a very good thing that I had packed oodles of snacks for Peter.  I needed him to keep eating every couple of hours so that his long-acting insulin wouldn't bring his blood sugar too low.  It was a constant battle.

It was a crabby trip for Peter.  Unlike our trip to India, he was touchy and inflexible most of the time, and entirely fixated on food.  Indian people have a wonderful way of living in the moment and their relationship to time is much more fluid than ours.  It's one of the things I love most about visiting India, or Indian friends wherever they may be.  It's therapeutic for someone like me to not live by the clock all the time.  But Peter -- oh my goodness, the moment he finished breakfast, he'd start hounding me about lunch.  Fortunately he enjoyed idlis from Gokul-Uncle's restaurant for breakfast, and was even more delighted with the homemade french toast that his aunty and uncle made him.  Most of the time we were out and about for lunch, and since one of Dubai's greatest attractions is its malls, he got to have his fill of American fast food.  Oy, the food courts!  In the evenings we ate at Gokul-Uncle's Indian vegetarian restaurant most of the time, but Peter turned up his nose at most of its offerings.  On the last day, he declared that the pakoras (vegetable fritters), Hakki noodles, fresh watermelon juice, cheese sandwiches and ice cream were delicious, but along the way he was most unpleasant. I tried to rein him in, beginning with the first meltdown at Amman airport, but his aunty and uncle indulged him completely once he turned on the waterworks.

But never mind all that.  Dubai is a splendid place to visit this time of year, with the brightest sunlight, blue sky, turquoise sea, and light-colored buildings -- the total antithesis of Chicago.  We visited the only 7-star hotel in the world (Burj al Arab), went to the top of the tallest building in the world (Burj Khalifa), spent time at an amazing "kid's village" (Kidzania at the Mall of Dubai), visited a falconry center on the outskirts of Dubai, observed the antics at a huge ice rink AND SKI AREA (!!!) inside the Mall of Dubai, took some nice strolls and admired the yachts along Dubai Creek, shopped here and there, drove over to Sharjah (another emirate) to see the exquisite new University there, spent a wonderful few hours at Sharjah's Arabian Wildlife Center, took in the most exciting sound-and-light show I've ever seen at another mall, watched India beat Pakistan in the World Cup cricket semi-final, swam in the Arabian sea, ate delicious ice cream and gelato whenever we felt like it, and then joined with Indians all over the world to watch the Indian cricket team WIN THE 2011 WORLD CUP!!!!!!  It was an amazing match against Sri Lanka, more riveting for me than Peter, but we both loved seeing all the people dancing in the streets, honking their horns, beating drums and screaming afterwards.  It was a real party that night at Gokul-Uncle's restaurant.

Peter missed a week of school after the trip because of his cold, but he's been quite perky since.  I wonder if his red count is up ...?  We'll know in a couple of weeks.  On the trip to Dubai, I found that I needed to give him less and less insulin every day.  That has continued here at home.  We're down from 14 to 10 units of long-acting insulin every morning, and instead of giving him another 25 or so during the day, we're down to less than 10.  It'll be interesting to hear what his endocrinologist has to say about that.

We postponed and then changed our Make-a-Wish trip based on the sense that Peter will be here longer than expected, and input from the MAW people about our initial plan.  We will definitely go out to CA to visit our Indian relatives there before the year is out, but Peter decided he'd like to see Harry Potter World at Universal Studios in Florida.  The folks at MAW offered their "standard" (amazing) weeklong family package, including all transportation, accomodation, meals, free passes to Disney (3 days), Universal Studios (2 days) and Seaworld (1 day).  We'll be staying in a special village just for MAW kids and their families.  We won't have to wait in any lines.  What an amazing experience this will be.  We're trying to set things up for the week beginning on Labor Day, since the parks will be less crowded then and the weather will be a bit cooler than during the peak of the summer.  Leo, Annie, Peter and I will be going.  Dr. Goodell, Peter's hematologist, thinks it's good that we're not going to postpone the trip too much.  Nothing is ever predictable.

Last weekend after doing some more research on the web to assuage my thirst for information about bone marrow failure syndromes, I realized that we were missing an opportunity if we didn't enroll Peter in some studies.  Peter himself doesn't have anything to gain in terms of his treatment or prognosis, but these are orphan diseases, and there are only a few hundred new cases a year.  Researchers are finding that there are a lot more genes involved than they once thought, and there are several different ways in which the DNA strands can be damaged.  Ultimately, the cure for these diseases will be gene therapy, wherein healthy genes will be introduced into a kid's marrow via some kind of host such as a harmless virus.  Right now we're probably 20 years away, but the work is still progressing quite rapidly.  But the scientists need as many data points as they can.

So, I decided that it would be a good idea to offer Peter's DNA to those who can make productive use of it.  I wrote up a brief summary of his case, and then Googled "bone marrow failure syndromes genetic research".  It didn't take long to find the top 12 researchers around the world along with their email addresses.  I knew that these people probably don't hear directly from parents very often, but I thought that one or two might get back to me with some interest.  However, within 72 hours, ALL TWELVE had written back to say they would love to get a sample of Peter's DNA.  This is relatively simple, because we can draw an extra vial of blood for one of them each time we do a blood draw to test his levels.  But clearly we can't work with 12 different researchers ... so I've selected a study (DNA bank) at NIH in Bethesda, Maryland, another at Rockefeller University in NY, and a third at Queen Mary's College in London, where the head researcher is Indian, and particularly interested in getting more Indian DNA.

I've been busy gathering Peter's records all week so that I can send copies to each of the study nurses who handle the paperwork.  I've been working on paperwork to authorize their use of the DNA and reading up on the specific research they are doing.  In each case, they will be examining Peter's genetic material to see if his defects match those that have been identified to date.  One interesting learning is that it is still quite possible that he does have Fanconi Anemia.  FA turns out to be a much more complex disorder than previously thought, and it is not unusual to get a false negative on the first line test.  Another possibility is Dyskeratosis Congenita, the next most common disorder after FA.  (Of course, these are both extremely rare).  If he does not match any of the known defects, then his DNA will be banked for future use.

There is a skin biopsy for FA and a telomere study for DC that I believe our insurance will cover.  Dr. Goodell had mentioned them before, but it was my thinking that there was no point in doing more testing because it wouldn't change anything -- for Peter.  Now I think differently.  There is a point.  The day the first child is cured of bone marrow failure with gene therapy, Peter and all the other kids whose cells supported critical breakthroughs will be right there.  Peter's life will have made a difference not just to our family and friends but to other kids and families we'll never know.

(Regarding telomeres, I believe they are the "caps" at the ends of the strands of DNA, but I'm a bit out of my league ... and I'm not 100% sure whether DC is the only syndrome with a telomere defect.  I'm sure Dr. Goodell will give me a layman's summary the next time we see him).

Apparently NIH will bring us to Bethesda at some point to do a full workup on Peter.  I think they'll be looking at every organ system, but there won't be anything more invasive than a blood draw.  In fact, I've always wanted to see an MRI of Peter's brain, because his cognitive deficits are so unusual.  We'll turn the whole thing into a fun holiday where Peter's whims can be indulged in exchange for visiting with the docs.  My brother Russell owns a geodesic dome house not far from Bethesda, and he says he can give us a key if we'd like to stay there.  More likely we'll be in a hotel attached to the NIH facility, but it's nice to know it's there.

I am very optimistic about finishing my online paralegal course (which I plan to start around May 1) and starting my new career before Peter falls ill.  More importantly, SPICE is coming up in June, and it will be a sweet, sweet, sweet time for all of us.  I probably won't be posting too frequently for the next few months, but in the back of my mind, I know I'll be needing your prayers by and by.  Thanks for following Peter's journey with me. 

Our Excellent Indian Adventure

Technology is an amazing thing.  It has turned me into an artist.  ME!!!  An artist!??  This 12x12 hardcover book will be wonderful to share at SPICE.  If you want to read the captions, click the link at the bottom of this post and then choose the full-screen option.  The tools Shutterfly offers for self-publishing are truly amazing.

Click here to view this photo book larger

A new perspective

Today we visited Dr. Goodell, Peter's hematologist, as a follow-up from our last conversation when Peter was hospitalized for his diabetes. 

Peter had his blood tested again last week, and his counts showed some recovery from the low point they hit right after his diabetic crisis.  We were very surprised to see his platelets up to 40, when they were only 14 a few weeks earlier.  I asked Dr. Goodell to do another test this morning to verify the platelet count, since Peter and I leave tomorrow for Dubai, and it's helpful to know where things stand.  The results were interesting.  Peter's white count dipped again (in just a week), red remained unchanged, and platelets were a whopping 43!

Dr. Goodell has reminded me more than once that with numbers this small, they have to drop quite a bit before you can say that they've really changed.  The measurements just aren't that precise.  Also, blood counts can bounce around a lot on their way down.  We had already seen some of that, but never in the platelets.  14 in platelets is getting to the point where spontaneous bleeds can occur, but 43 is fairly safe.

Peter's red count and hemoglobin (the protein in red cells that carries iron and transports oxygen) are pretty low and that explains why he sometimes feels weak and shaky.  He does get winded easily these days.  Dr. Goodell says we might see some recovery in the red and hemoglobin in a month or two.  Red cells have a lifespan of 100-120 days and what we're seeing now is still impacted by the severe untreated diabetes of a month ago.

White count can bounce a lot faster than red count and hemoglobin because white cells have a lifespan of 13-20 days.  Last week we saw a nice recovery and now Peter's white count is the lowest we've seen.  The infection-fighting component of his white blood cells is pretty low, so he's susceptible to infection.  I'll have to keep his hands well sanitized on our trip.

Platelets can bounce a lot even from week to week, because their lifespan is only 8-10 days.  We're seeing a very nice uptick now but it could just as easily drop again ... and then go back up ... and then heaven only knows.

The BIG news is that we have some new information that changes everything.   Right after Peter's aplastic anemia was diagnosed, we went on a fishing expedition for older blood tests that could tell us how long Peter might have been living with his condition.  This was important, because it could have given us an indication of the pace of his downward slide.  Unfortunately, we couldn't find anything in his pediatrician's file.  Peter was not a boy we wanted to poke unless it was absolutely necessary.  And it wasn't necessary!

BUT:  Back in April of 2008, Peter saw a pediatric gastroenterologist at Advocate Lutheran Children's Hospital, the same place where his hematologist and endocrinologist have their offices.  He's had chronic poop problems, and I wanted to rule out celiac disease (gluten intolerance).  I had totally forgotten that the GI doc had ordered a blood test.

Apparently those test results were never entered into the hospital's "system", so they were invisible to all of us ... UNTIL ... a med student working with Dr. Goodell found them at the bottom of Peter's paper file.  Dr. Goodell couldn't wait to show them to me.  Peter CLEARLY showed the signs of aplastic anemia three whole years ago!   This means that he has been living with low counts for a long time with no apparent symptoms.  Despite the bounces we've been seeing in the past 5 months, his decline has been slow and gradual.  There is NO reason to think that it won't continue that way!

It's pretty obvious that the GI doc never looked at the results, because I should certainly have gotten a phone call telling me to see a hematologist.  (In retrospect, that's actually a blessing, because Peter would have been getting a lot more blood tests during the 2.5 years when we didn't know about his condition.)

Suddenly the frame of reference is entirely different.  I can't say that I have a dying kid anymore.  What I have is a kid with a chronic condition who is NOT SICK!  Dr. Goodell says there's a good chance Peter could hang in for a year, or two, or even three.  He could also go into a steady decline at any point.  But based on the data we have, we're not expecting that for a while.

PETER WILL UNDOUBTEDLY GO TO SPICE!

Ironically, our hospice nurse came with us to this morning's appointment so she could introduce herself to Dr. Goodell.  Now we're putting hospice on hold for a while, though we'll still stay in touch so that we can re-initiate his case at any time. 

Last weekend, the people from Make-a-Wish came to see us, and we started to plan a trip to California in May so that Peter could see all of his special relatives who live there.  (That's my boy ... forget Disneyland, I want to see my cousins!)  Now I think I'll put that on hold for just a little while, since we're going to Dubai now and we'll be going to SPICE in June.  Dr. Goodell thinks we should do the Make-a-Wish trip fairly soon while Peter is still feeling well, so early fall seems like a good time.

Since Peter's hemoglobin is still very low, Dr. Goodell talked to me again about transfusions.  Initially we had decided that we wouldn't start transfusions, because there's no end game.  How could you ever decide to stop?  It just seemed better to never start.  But now Peter's platelets (which were our gravest concern) are back up to 43, higher than when his condition was diagnosed.  His white count is low, but he is NOT SICK.  Things aren't likely to go downhill quickly.  So why not give him some red blood cells now and then to make him a little more perky?  He's got time!  Let's make it even better!

We were prepared to give him a transfusion today, so that he could be at his perkiest while we're in Dubai.  Dr. Goodell talked to him about it, but Peter had been stuck three times already (once for CBC, once for cross-match, and once when they couldn't find a vein).  Peter was adamant:  NO MORE POKES!  But we'll be visiting Goodell again in a month, and if Peter's hemoglobin is still very low, we'll try persuading him again.  It did take a shot of Atavan to get his I.V. in when he went to the hospital for his diabetes ... but maybe if we bribe him he'll go for it.  I'm already talking with him about it in bits and pieces so that he starts getting used to the idea.

As for the end-game, Dr. Goodell said he'd been thinking a lot about that.  He said that in his experience, the kid is the one who tells him when it's time to stop transfusions.  At some point, Peter is going to start being sick.  He'll get infections, run fevers, bruise easily, get nosebleeds ... and we'll recognize that it's time to stop.  That was a persuasive argument to me, and our hospice nurse agreed.  This has always been about Peter living as as long as possible as a happy, healthy boy.

To everyone who's been praying, I just ask you to keep on doing what you're doing.  Every extra month is a gift.  The future may still be uncertain, but I'll take it exactly the way it is right now!

Wrapped in love

I just opened a package that came to the door, and inside were a comfort blanket for Peter and a comfort shawl for me. My dear SPICE friend Patty Reents crocheted them by hand in the colors of the Indian flag, and sent them on behalf of all of SPICE.

Peter is out with his bike for the first time this year. This is the note he'll see when he comes in:

Dear Peter,

I crocheted this prayer, or comfort, blanket just for you. I heard from your mom about what you are going through with your diabetes. I'll tell you a secret --- I hate needles, too! So I made you this blanket to comfort you when you are feeling sad or scared. I made it in the colors of the Indian flag to remind you of SPICE and of your trip to India. I prayed as I crocheted the blanket that you would not be scared and would find comfort in everyone who loves you.

I told everyone at SPICE that I was making this blanket for you and that I wanted it to be from everyone at SPICE along with … my family. Some people sent notes for you to send with the blanket. But everyone is thinking about you and sending lots and lots of good wishes in their hearts.

So when you feel scared or upset, wrap yourself up in this blanket and think of all the good times at SPICE and in India. Think of all your friends at SPICE --- kids and grown-ups. We all love you very much! Wrap this blanket around you and let it feel like a gigantic hug from all of us.

With lots of love,

Patty and Bill


Someday I plan to share my shawl with someone else from SPICE who needs comfort. Then it can be passed to the next person. I know the prayers woven into it will never run out.
Sent from my Verizon Wireless BlackBerry

Shaky

With a threatening nuclear disaster in Japan as a backdrop, life feels pretty shaky here right now.

Peter keeps waking up with a swollen face.  Yesterday we let him stay home because he was embarassed, but we decided he couldn't stay out forever.  It's not painful, just puffy, so that his eyes are little slits.  It goes down by the end of the day.  Allergy medicine doesn't seem to help. 

So this morning, Carl got him up for school and then let him sleep longer when he said he was feeling weak and shaky.  I got him up a couple of hours later so he could eat some breakfast and keep his blood sugar up.  He went willingly off to school soon after, but then realized his water bottle was downstairs and hurried down to get it.  When he got back up, he leaned on Carl a little saying, "Daddy, my heart is pounding so fast!"

Carl and I just say, "Mmm hmm" when he mentions things like that.  What else can we say?

Just now a representative of Make a Wish called to set up an appointment to meet us on Saturday.  Peter asked who was on the phone, so I asked him if he had heard of Make a Wish.  He said no.  I said, "Well, it's a group of people who give wishes to people like you.  You know, like having all those blood tests because your blood is sick.  You get to choose where you want to go, or what you want to do."

"I don't WANT a wish."

"Oh, I think you should wait and talk to the man from Make a Wish before you say that.  Isn't there some place you'd like to go?"

"NO!"  (typical Peter)

"How about going to California to see Shilpa and Sanju and Sahil and Aisha?"

"Oh, yeah, I want to see Shilpa and Sanju!  That's what I want.  But nothing else."

"Hey, we could go to Disneyland while we're out there."

"No.  We WENT to Disneyland."

"Wait, that was Disneyworld, in Florida!  Disneyland is in California. It's different."

"No it isn't!  I don't want to go to Disneyland.  It's MY CHOICE!"

At this point, it was obvious that the conversation had gone on far too long already, and it was my fault.  But just like it is typical Peter to be contrary about anything special he is offered, it is also typical Peter that his biggest wish would be to see his Indian cousin and her family.  Shilpa is the daughter of Sheela, my Indian sister, who we will be visiting in Dubai later this month.  When I was an exchange student in India in '73-'74, Sheela was 18 and just starting her medical training.

That reminds me -- Peter needs t-shirts!  Everything he has is too big!

Fit for a King

I scooted down to Chicago's Indian district on Devon Avenue with Peter on Friday evening.  He was very excited about getting some "real" Indian outfits with lots of bling.  I took him straight to Al-Raheem Sari Centre, where I often find nice outfits at reasonable prices.  I've bought so many things there that I'm greeted like a family member when I come in.  We went straight to the back and started looking through outfits in sizes 14 and 16, with chest measurements around 40.  Peter immediately fell in love with the cream silk one with sparkles ALL over it, though it was marked $250 and I certainly was not going to pay that kind of money!  The shop's owner came over with piles more outfits in the same price range and when I protested, she said "Don't worry, I give you good price".  She's actually been good to me before, so I allowed Peter to try on and choose 3 outfits which he'll wear day and night at SPICE.  The cream and red ones need to be significantly shortened but the navy one is not a bad fit, all things considered.  I loved watching him admire himself in the mirror, pursing his lips in that funny self-conscious way he does when he likes what he sees.

While talking price with the shop owner, I considered whether I should tell her quietly why I was buying 3 fairly expensive outfits at the same time and see if that would get me an even better price.  Well, I am shameless.  She gave me all 3 outfits for $250, a very good price indeed.  (Never mind that they would cost about half that in India, this is Devon Avenue we're talking about).  She recommended a good tailor and called me the next morning to tell me that she had already spoken to him and asked him to give me his best price for the stitching.  She went on and on in Hindi telling me what a good person I am, etc. etc. etc. (as if she wouldn't have cared for her own child the same way!)  I responded using my rudimentary Hindi that I was just a mother.  She's a mother, I'm a mother.  We love our children.  (I'm very proud that I can say that much in Hindi, since it's all self-studied).  Anyway, I got my point across. 

Then we went on down to Sukhadia's Sweets, where all sorts of goodies (sweet and savory) can be purchased.  The last time we were there, Peter and I both had our favorite snacks and then finished up with mango ice cream.  This time we had to carry our snacks home with us so that I could test Peter's blood-sugar before he ate his.  He brought home freshly-fried pakoras (batter-dipped veggies) and I chose bhel poori (spicy puffed rice and other crunchies with chunks of potato and onion, fresh-cut coriander leaves and a sweet-and-sour chutney to pour over it).  Peter looked longingly at the jalebis (crispy pretzel-shaped fried sweets soaked in rose-flavored syrup).  It's not that he can't have one ... but he didn't beg, and went home happily with his pakoras.

The outfits now hang in our dining room and Peter glows every time he sees them.  I'll be taking them down to the tailor soon.  I settled one important thing when I bought them.  It's good to have that settled.  It'll be the cream one.  I like the navy one better, but the cream is his favorite.