My Story, pt. 2: The Empire Strikes Back

the saga continues…

The “New” Normal (p.s., I still hate this phrase and will slap you if you use it around me)

Grace was a little reticent during that first bath, but before long the sink would be FULL of cups, toys, and towels -- assuring "B-Ho" of a very crowded bath.

But at least we got to go home.  Two days later, after they showed us how to insert a nasal gastric tube, how to check for placement, and how to administer the tube feedings ourselves, we took Hope home.  Tammy’s family came and redid the backyard, so almost-2-year old Grace would have somewhere exciting to play while we were consumed with Hope.  My folks came and installed baby gates all over the place to keep Grace out of the places we needed her kept out of.  Tammy’s mom baby-proofed the new “emergency crib” we had bought to go in our room.  One of the unlikeliest of godsends was a call from our insurance company, assigning us a “case manager” who would shepherd us through the next several months of genetic testing and specialists appointments.  You will never know the satisfaction of sitting in on a conference call, where your insurance company grills the nurse from the specialists office as to why they haven’t returned your call.  I highly recommend it.

The ultimate goal was to get Hope onto Human Growth Hormone — you know, the stuff that the pro cyclists and baseball players use to cheat.  What she lacked was muscle tone, and that was the key to immediately improving her quality of life.   Helping her develop the muscles to help her eat, breathe, wake up, and move was a priority.  (So she gets a little shot every night, she even gets excited about it now “I get shot mama!”  She gives her baby dolls a shot too.)

I wish now that I hadn't been so reluctant to take pictures during the "nasal tube"-phase. But I was a wreck, can you blame me?

Of course first we had to get a firm diagnosis.  That came at 5 weeks, and by good fortune, we got the diagnosis the day before the monthly Prader-Willi clinic that is held in Fresno, where a doctor, a 30-year expert in PWS from San Francisco comes and tracks patients in the Central Valley.  Even though Prader Willi is rare, it is the most common of the rare genetic disorders, affecting 1 in 12,000 to 15,000 people.  So barely 18 hours after we got the final diagnosis, we got to sit down with her, a nutritionist that specializes in PWS, and a psychiatrist that specializes in PWS, and a genetic counselor with extensive experience in PWS.  At least we didn’t have to wait long for the chance to ask questions and get answers.

Hope, meeting her namesake, my Grandma Hope, for the first time.

For the five weeks between the clinical diagnosis and the blood test, my mom, Tammy and I did varying degrees of research.  I was able to do the least.  I remember one time I finally got the courage to go to a website that was run by a Prader-Willi Organization that shall remain nameless.  The homepage of the site was just a picture.  It was a picture of a refrigerator, it was all black-and-white — very ominous looking.  There was a sign on the refrigerator that said “What if what was behind these doors could kill your child?”  and of course the fridge was locked with a chain and a padlock.

Well, holy hell people!!!

You had to click on the refrigerator to open the door and what followed was the most depressing description of PWS I have ever read.   To this day I still can’t stand to read it.  That wrecked me for like two weeks, and when I finally fessed up to my mom what I had read that made me so morose – well, that organization got a strongly-worded letter from my mommy.  But that picture is gone.  The depressing information is still there, but a little more buried.

Anyways, half the time I was hysterical because Hope had PWS, the other half of the time I was hysterical because she didn’t, she had something worse.

Tammy's grandmother bought us this rocking chair when we were expecting Grace. We didn't get much use out of it. Then Hope came along and "the blue chair" became my virtual home for six months. I pumped, I fed, I blogged, and ultimately - I hid from the world in this blue rocking chair.

Getting that final diagnosis (for me) was a relief because for the first time I began to believe that she would live, and that I didn’t have to be afraid to love her.  That was silly of course, I loved her already, she just has this sweet, quiet way about her – she’s adorable.  But I remember telling my mom, “you know, I just don’t care about getting all these specialists appointments scheduled.  I just want to enjoy being a mom of a new baby. Finally.”

I should mention that after we got the final diagnosis, we called the cryobank that we had used to find our sperm donor and informed them of the situation.  Again, we were blessed with nothing but support.  We wanted a second round of genetic testing done, to determine precisely which genetic variation of the 15th chromosome Hope had (because there are three that result in PWS).  They located the donor so that he could give a blood sample (because one of the three, though exceedingly rare, is inheritable and comes from the father’s side).  Hope, as it turns out, has what is called uniparental disomy, she has two of my 15th chromosome.  Essentially, the egg that was fertilized had two copies of the 15th, so when the father’s sperm, carrying it’s own copy showed up to the party – it was politely shown the door, and with it, the piece of genetic data that would have resulted in …well NOT Prader-Willi.  But my wife likes to remind me, and does so every time she teaches the reproduction unit to her 7th graders, that my eggs were all formed when I was still in my mother’s womb.  That little egg that became Hope waited a long time for it’s trip down the chute.

But those specialists appointments were good, and necessary, and thank God for that first Prader-Willi clinic.  The first thing the doctor said was “Don’t read the internet!!!  The information is old and outdated, this isn’t a death sentence.  The literature hasn’t caught up to the new developments since we started using growth hormone, it’s a whole new world.”

The decision to allow The Gays to get married in California came when Hope was a couple of months old. I was so delirious with exhaustion the excitement of the decision barely registered. But we knew we had to get married before the right disappeared. We planned our wedding in one afternoon, between breastpumping/feeding sessions. Just so you know, you can pull off a decent wedding with 3 hours preparation.

Now, don’t get me wrong – she leveled with us.  Hope will always be hungry.  She will not know when she is full.  We will have to lock up food in the house.  She will “elope” to go searching for food.  She will probably steal money to buy food.  She will never be able to live alone successfully.  She will not have children.  She will be able to eat until her stomach ruptures and she won’t be able to tell us because people with PWS have a high pain threshold, they don’t process pain like you or I do.  If she ever vomits, throw her in the car and get to an ER, people with PWS go their whole lives without vomiting – if they do, it’s bad.  She will be developmentally delayed.  She will be really good at jigsaw puzzles but she won’t want to play them with you.  She will walk, she will talk, she will do pretty much everything else any other child does, just later.

The "Big Day" -- the first HGH shot. Tammy does the shot every night. I don't like to do it. I don't know why. Maybe it's denial. Maybe I'm just a lazy ass.

A few weeks later, Tammy, who had been pretty stoic during the whole ordeal finally had her moment.  Our pediatrician, who had kind of been tormenting herself I think for missing the signs in her initial examination of Hope gladly wrote a note to get Tammy out of the last few weeks of school (and jury duty) so she could be home and help.  Our pediatrician wrote every referral we asked for and some we didn’t even know we should.  She made follow-up calls with agencies.  Our insurance case manager called every week, and she made calls to doctor’s offices who weren’t calling me back.  When the day came and we finally had our first appointment with the endocrinologists all of our ducks were in a row and at five months we got Hope on growth hormone.

Let me tell you, I wasn’t expecting much at first.  But within two days we could see a difference.  She focused on us.  She woke up.  She became, in many ways, like a newborn – finally.

to be continued….

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2 Responses to My Story, pt. 2: The Empire Strikes Back

  1. erica rose says:

    My heart is aching just reading about the symptoms and issues she’ll face. I commend you for being so strong, I don’t think I could do the same. You and your wife are effing rockstars.

  2. Jen says:

    thanks, I think my wife wants an “effing rockstar” t-shirt now ;D

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