Wednesday, September 26, 2012

Mt Sinai



Last Tuesday, Brett and I took Quinn to see the doctor who specializes in Niemann-Pick Disease.  And by "the doctor" I don't mean the one in New York or even the one in the US.  I mean THE.ONE.  As in - in the world.

Dr. Wasserstein runs the International Center for Niemann-Pick, Types A & B at Mount Sinai in the city.  Our new NPD friends all told us how lucky we were to live so closely to Dr. Wasserstein (I work in the city, so we are commuting distance) and what a phenomenal resource she was for all of them.  I had images of this super strong demigod(dess) swirling around in my head as the appointment approached.

We were met by a very soft-spoken woman.  Ok, I can re-jig my original idea to a kind, super-strong demi-god(dess).  Then she saw where we lived and asked if we were originally from there.  I am from the town over and it turns out, Dr. Wasserstein went to a rival high school in that same town.  Hmm.  I knew some pretty smart people growing up, but what I need is THE smartest.  My confidence began faltering.

Then she asked if White Castle was still nearby.  Well, yes.  Dr. Wasserstein confided that she would cut out of the neighboring temple during services and go to White Castle with her friends growing up.

Crap.

My images now shattered, I began picturing the people I hung out with growing up.  And - god love them - that's not who I had in mind.

But then I saw it.  I saw her brilliance in her thoughtful questions and her even more thoughtful answers. The way she caught her breath and said "oh! That's my Kaitlyn" when we showed her a picture of a beautiful child recently lost to NPA whose resemblance to Quinn is uncanny.  And most importantly the way she quietly, defiantly answered Brett's question about whether she had any personal experience with NPD - "they're all personal."

We had found our match for beautiful Quinn.  

(speaking of, it has just occurred to me that some of you who are reading this have never seen our amazing little girl.  So, some gratuitous shots below - just because :)

Dr. Wasserstein patiently answered our questions.  She spoke frankly, but gently - always gently.  We are in no way disillusioned with what we'll be facing so sugarcoating it does no one any good.  But kindness and gentleness are oh, so helpful.

The main concern at this time is keeping Miss Quinn's weight up.  Her liver and spleen are already pretty enlarged and are stealing so many of the calories going into her already small frame (20% for weight, 25% for height).  Quinn begins feeding therapy tomorrow and we're working on PT now.

We go back to Dr. Wasserstein next month.  I'm thinking of bringing her some sliders.


at her first Mets game this past weekend 


during her 'power hour' - the time after eating when she needs to be held upright and steady 

a photo entry for a Win a Trip to Disney contest

Sunday, September 16, 2012

"No."

"No." I answer very few questions with this singular response. It's almost always followed by "thank you" or more often, a long rambling monologue qualifying the "no". 

"Do you like sushi?" "No."
"Are you a Yankees fan?"  "No." 
"Would you like to bungee jump off this bridge?" "No."

"Should we try and save your daughter?"

No.

That is the answer we are about to give to a team of world renowned stem cell transplant (SCT) experts at Duke University Medical Center.  They ran all the tests.  They found her an HLA match (6 out of 6!).  They believe she would physically fair well through the procedure.

But her brain will not.  

We have spent weeks now grappling with this decision.  Do we prolong her life when the quality of life will almost definitely not be there?  

Almost definitely.  

And herein lies the universe's cruelest joke.  We can give her more time - give us more time with her - but at a very high price.  The next few months - the last few where she will still be a 'regular' baby - would be spent administering nearly lethal doses of chemotherapy and immunosuppressants, living in the PICU and an isolation room on 5200-the transplant floor at Duke.

And it would all be worth it, if it weren't for the damn MATH.  You see, the neurological deterioration begins between 6-8 months in NPA patients and follows an aggressive path.  SCT takes 80-90 days to reach the brain, where it takes another 2-4 months to begin working.  And that would make Quinn almost a year old.

Too Old.

Absolutes that we always took for granted - life and death, right and wrong - are no longer a part of our world.  We are told by everyone - the doctors, our family, our friends - "There is no wrong decision."

What they don't say - what they won't say - is that there is no right decision either.

We have spoken to families of other NPD children.  To the single physician who actually studies this disease.  To family.  To friends.  To a child psychologist.  We have taken time to think together and time to think alone.  

And we have come up with that one word sentence.

"No." 

Monday, September 10, 2012

The First Post.

Linzer, Party of Five.  A name borne of excitement and hope - it's how I announced my pregnancy with Quinn on Facebook, to all the 374 friends with whom I was thrilled to share our news.  Play on words, of course (the original announcement was accompanied by a line from the tv show's theme song, attached to a picture of Quinn's 9week sonogram).  
 
And now, it's time.  I have had this blog on my mind for a couple of weeks now.  And it's already written... until I sit down to write it, that is.  It's almost as though I'm 'coming clean' about something, but that's not it at all.  Writing it down just makes it all so very real, and that is the last thing I want this to be.

But it is.

And so... Quinn Madeleine Linzer, our amazing, wonderful baby girl has Niemann-Pick Disease, Type A.

What's that?!  Yeah - kind of our question too.  

Niemann-Pick Disease Type A (NPA) is an extremely rare genetic neurodegenerative disease.  The science of it is that Quinn currently produces less than 1% (0.5% to be precise) of the enzyme acid sphingomyelinase (ASM) required to metabolize a lipid (fat) called sphingomyelin.  This lipid accumulates within her cells, eventually causing cell death and malfunction of the major organ systems (mainly liver, spleen, lungs and the brain).

The reality of it is that NPA leads to an early death, anywhere from 15months to 3+ years. And before she is gone, she will be taken from us by way of severe developmental retardation and regression.

There is no treatment and there is no cure.

NPA is an extremely rare disease (autosomal recessive) - one that affects 1 in 250,000 children, though in this case the likelihood was more like 1 in 1M or more because I had been screened for this very disease and it came back negative.  So there's at least one mutation at play here.  That is, a mutation of the mutant gene.  Kind of unbelievable - we still can't quite grasp it.

There is a brochure put out by the National Niemann-Pick Foundation (NNPDF) that puts it very succinctly: 
"They only have their childhood to live a lifetime."

And that's what we're going to do.  Give Quinn a lifetime, as best we can.

Party of Five we will forever remain, even if only in spirit.