Even though we have only known each other about 6 months or so, I really feel like I have connected with Nicole, Grey’s mom.  We met via blogs back then, and then we met in person last month.  She is more awesome in person than she is online!  

It was also a celebration of her a-bit-younger-than-I-am birthday.  When she was able to do a backflip on the trampoline — TWICE — I was just in awe!  I sure as heck can’t do that!

So when she invited us to celebrate the signing of Greyson’s Law (Texas Newborn Screening Law), we didn’t hesitate, even though it was a 3-1/2 hour drive!  It was great to see her again, and I got a chance to meet her husband and good friend, Misti (who “introduced us” online), who is just fantastic!   It was an honor to be there to celebrate this great occasion with their family and friends – such an important law for Texas children!

Hannah was just not herself completely yesterday, though.   Usually she loves meeting new people and “hanging out,” but she just wasn’t in the mood this time.  I think it was a combination of the heat (it was over 100 degrees) plus the lack of afternoon nap (only 15 minutes) and being cooped up in a car for the long drive there.  Daddy kept bringing her inside the house in order to keep her cooled off.

However, on the way home last night, she just started getting really upset on the ride home, about 90 minutes in.  We aren’t sure what started it. Because she has dimished lung power when she gets excited, she started hyperventilating.  This was the first time this had ever happened with her.   Because we were on the freeway in the middle of nowhere, and it was dark, it took about 5 minutes before we found an exit with a lighted gas station.  Until we got there, I just reached over the chair and kept trying to keep her paci in her mouth, hold her hand, and stroke her face (though she couldn’t see mine).  It seemed to help only a little bit, but it did help some at least.

Once at the gas station, I pulled her out of the carseat and just cradled her, trying to calm her down.  She started bubbling a little bit from her mouth, and that freaked me out a bit.  Daddy and I handled all of this really calmly because we didn’t want Abigail and Ethan to freak out, but I was truly scared.  Yet, we knew we weren’t anywhere near any medical facility, so I just did my best to calm her down by holding her and stroking her face.  Finally, about 10 minutes later, she was calm enough that I could put her back in her carseat.  I ended up sitting next to her in the middle row (we have a minivan) and holding her hand the entire ride home.   She didn’t take her eyes off me nor did she take her hands off my hand or arm. 

Even though she was a bit calmer, she was taking quite a few shallow breaths, as if she still hadn’t completely been able to catch her breath yet.  This lasted about 30 minutes.  By the time we got into a major city, she was pretty much back to normal, thank goodness!!!  She finally fell asleep about 10 minutes after that.

So now we know… we have to make sure she takes her afternoon naps when we go out, keep her out of the heat more often than not, and take more breaks on long car rides.  The combination of the three is pretty dangerous for her, it seems.

This morning?  She is just fine and completely back to her normal self.

We met with Dr. B., Hannah’s pediatrician, on Friday for her monthly check-up.

Her head circumference growth seems to have leveled off and actually didn’t change in the past 3 weeks.  This is good news in hopes that she does not have hydrocephalus!  We will still probably be doing an MRI of the brain at the National Institute of Health in July, however.

Hannah’s spleen really is starting to shrink now.  Before it went 5 cm below her costal bone (rib), and Friday, it is almost at the 3+ cm mark!  What a big difference!  Her liver is also starting to shrink a bit now.  Her platelets, however, went down just a bit to 147,000 (we were hoping for a raise since the spleen is shrinking).

Everything else was what we already knew except her worsening eye movements.   Daddy and I have been noticing it for the past few weeks, but Dr. B. saw it and mentioned it, so I knew it was true. 

I don’t know what the medical term is for it, but she seems to have trouble moving her eyes to where she wants them to go.   For example, she was in her exersaucer today, facing away from me.  I called her name, and you can see she got really excited, jumping up and down, and with a huge grin.  However, even though she started moving her body towards me, she couldn’t seem to get her eyes to unlock from straight ahead where she was. 

It is like we go through days where everything seems great, but then we get hit with these reminders that she really does have this progressive nasty disease, and it breaks my heart.  Now that it is more often and more noticeable, these reminders happen more often now.

Hannah is definitely becoming her mother’s daughter.  She is becoming fiercely independent, stubborn, and wants to be in control of what she does.  Don’t know who that would sound like in our family!  LOL

Physical therapy (Wednesday):  She had a great PT day with Ms. Pam.  Even though she was visibly tired from the lack of a morning nap, she was a champ and had a great time.  We worked on balancing while sitting, balancing against the big peanut ball, getting our knees up into the crawling position, and quite a few other things.  By the time the session was over, Hannah was exhausted, but she was smiling.  The best news was that Pam did her one-month reevaluation of Hannah’s progress, and Hannah has hit 4 out of 9 long-term goals already!!!!  THAT is my girl 🙂

Occupational therapy (Thursday):  We talked about her absolute refusal to let us put our fingers into her mouth, let us feed her with a spoon, etc.  This is where the words “stubborn” and “control” were first thrown around.  Pat, her OT, thinks that this is a protective measure because she is scared to get stuff in her mouth that is not on her own terms.  She has no problem putting anything and everything in her mouth as long as SHE does it. 

Pat gave her a long gummy worm to hold and eat, and she was very curious at first, but then she was in heaven.  Since she has no teeth yet, she was unable to puncture the worm.  We also tried a lollipop, and she LOVED that UNTIL one of us tried holding it and letting us put it in her mouth.  She would keep trying to grab it out of our hands!  So Pat suggested why try opening her up to tastes in her mouth with solid foods that she can’t break off like gummi worms, lollipops, cold zucchini, cold carrots with ranch, thick pretzel rods with salt, etc. 

We are also to take a week off from trying to spoon feed her anything.  We are still going to feed her the baby food in each of her bottles with formula, but we will let her experiment and try putting the food into her mouth.

Developmental Therapy (Friday):  Hannah was just not in the mood.  Even though Hannah loves Jenny, her therapist, she just wasn’t having any more manipulation and work.  It could be that she was getting used to her orthotics and her feet were feeling weird or that she just wasn’t feeling like herself.  But, Jenny is scheduled to come back this Monday, so we will try again!

Surprisingly, Hannah hasn’t really complained much about her new ankle/foot braces.  I was expecting a bit of a fight, but nope, it hasn’t happened!  

She does fight, however, when I put the stride-right size 4-1/2 extra wide shoes over her SureStep orthotics.  We are going to have to look out for other shoes because those just are so klunky!   Also, I think going from being barefoot and wearing socks all the time to trying out these big clown-like shoes (with the stride-rites on) totally throws her off. 

She probably feels like she has weights on her foot!

They are really cute, actually.  They have pink, purple, and yellow flowers on them with a pink velcro strap.  Hopefully, these will last for about 4 months (so we were told).  

She is to eventually wear them all day long except for naps and sleep time.  But until then, the first day is two hours on two separate occasions, then three hours on two separate occasions, four hours on two separate occasions, etc.

http://www.boston.com/business/healthcare/articles/2009/06/18/genzyme_plight_leaves_patients_uneasy/

The article came out that I was interviewed for yesterday afternoon.  I’m so glad to see the neuronopathic Gaucher’s disease is finally getting some awareness, but I wish it was not because of the Genzyme plant shutdown.  Again, here are my thoughts on the situation just in case it wasn’t clear in the article.

But, at least now there are more people who know how devastating a disease that Neuronopathic Gaucher’s Disease (as opposed to the type 1 Gaucher’s Disease) is for families.   I wish they had elaborated more on how children with type 2 and type 3 have severe and progressive neurodegenerative brain function decline and that type 2 children have a life expectancy of no more than 2 years and that type 3 children have a life expectancy of young adulthood — if they are fortunate.

It is such a misconception that all Gaucher’s Disease is a treatable disease.  Yes, for the 95% of those patients with type 1, it IS a treatable disease.  But for patients like Hannah and Kyle and the other GD23 patients, it is the only option we have of keeping our children comfortable and prolonging their lives in hopes to find a treatment that will cross the blood-brain barrier and remove the fatty particles from our children’s brain that are not being filtered out.  It angers me to no end that there are so many websites on the internet that report this falsity!

Our children our so incredibly underfunded and underresearched.  Genzyme’s Cerezyme has given up “hope” to help slow down the progression of the neuronopathic portion of the disease so that we can work to find a treatment!   Hopefully the Parkinson’s Disease community will open their eyes soon to see that our children may hold a key to understanding their disease and work with us!

Would you believe I have spent the last three hours talking to various people about this including a reporter from the Boston Globe?

Understandably, this is HUGE news in the rare disease world.  You have one of the most profitable treatment production companies in the world being shut down.  Around 8,000 patients, including Hannah, are directly affected by this.   But it wasn’t done maliciously, and there was no intent ever to harm people.  It is a crappy situation that has happened, and we, the patients and parents, have to just suck it up that it happened and work WITH Genzyme towards a solution.  I don’t have the energy to get angry over something that is over and done with and that I have no control over.

I still have no idea how this is going to affect Hannah directly.  I’ve been talking to one of the people I have been working with over at Genzyme, and there really isn’t anything to share yet.  But she promised to touch base with me often, and she has already proven that today.

I keep getting asked “Aren’t you angry at Genzyme” for this?  Truth is, I’m not angry at them.  I’m disappointed that the situation happened.  I’m scared to death for Hannah.  But you know, Genzyme was the only one that researched and came up with a treatment for Gaucher’s Disease at a time when no one else touched it.  Even though this isn’t a cure for neuronopathic Gaucher’s disease, the Cerezyme directly has impacted the health of Hannah and the other nGD children in a positive way.

The people I have met at Genzyme have been absolutely wonderful and supportive.  From our case manager to our local Genzyme rep to their patient advocacy representatives… they have all just been fantastic.  They don’t act like a “big company,” and they have treated my concerns with Hannah on a very personal level, not as if she was just another patient.

So “no,” I’m not angry AT Genzyme.  I’m just disappointed with this situation and very scared as to how this is going to affect Hannah’s life.  I just need to know how Genzyme is going to handle the remaining inventory and the lack of inventory.

Related post at the Children’s Rare Disease Network