In about 14 hours, Hannah’s first birthday party celebration is going to begin.  We have spent the day putting up balloons, reorganizing the house, and just preparing for this momentous event.   We have received dozens of birthday cards and some gifts from friends and well-wishers, which have made this milestone even more exciting to celebrate knowing that so many people care about Hannah and are cheering her on. 

But tonight I have to take a step back and realize how far we have come in our fight against this disease.   We have made it to her first birthday.  However, in just the past couple of weeks, we have lost a sweet little 8-month-old boy to Gaucher’s type 2 and have two GD2 children fighting for their lives right now.   I only know of about 20 families with kids living with this disease as it is. 

This disease is just brutal.  It shouldn’t be this way.  I keep thinking…Will Hannah make it to her second birthday?

Where we are now…(as of 8/1/09)

My baby girl is ONE year old now!  This was a milestone that I spent many nights fearing we would never see over the past year, but here she is.  She made it.  Not only that, she made it in style!  We are having a big birthday party for her tomorrow!

We had a wonderful experience at the National Institutes of Health where we met Dr. Ellen Sidransky, Dr. Ozlem Goker-Alpan, and their team of neuronopathic Gaucher experts from NeuroOpthalmology to Rehabilitation Medicine to Neurology to Speech Pathology and so many more in between.  We walked away from the visit feeling incredibly empowered, because we finally had a handle on what symptoms she does have and suggestions on what we can do to improve her progression (physically). 

For a complete list of what we found out there, click here.  But to summarize, she has an atrial septal defect (probably not related to GD), vocal cord weakness (not sure how it is related to GD, as it has never been seen in GD before), global developmental delays, ocular motor apraxia and supranuclear gaze palsy, severely decreased blink reflex, slight lid retraction, decreased central tone and increased peripheral tone, and loose ligaments in her lower extremities.  

Bottom line, they won’t “type” Hannah as a type 2 or type 3 at this point because she doesn’t seem to classically fit into either of these categories.  Daddy and I walked away feeling that they felt she should be a type 2, but she isn’t acting like a “classical” type 2 but more like a type 3.  Regardless, she is the “Hannah type” at this point!

Treatment and Research
With everything that has been going on during the past month, there isn’t much to add.   Gaucher Foundation UK has put out a very informative newsletter this past month which includes some of the research going on overseas. 

Once Ethan and Abigail start school in a few weeks, I’m going to start working on a fundraiser to try and raise money for some real research to help Hannah and the other nGD kids.  For those in and around the Virginia area, there is a walk on September 20th to help raise money for our nGD kids – please consider participating!

Not that I was an incredibly organized person to begin with, but I am finding it incredibly difficult trying to get back into a routine after these past two weeks away from home.  This week has been completely ragged with unpacking, planning Hannah’s birthday party this weekend, plus dealing with regular life stuff such as Hannah’s physical and occupational therapy.  Tomorrow we have developmental therapy.

Ethan and Abigail’s school starts in 4 weeks.  Thank goodness.  I honestly don’t feel like I can get a good handle of beginning to get back into a sense of order until school starts.  They need their routine so I can rebuild my routine, especially now that we have to double the amount of therapy Hannah is going to need, but fortunately we may be able to lessen the amount of the various doctor’s visits we go to each month.

I hate this feeling of chaos.   What is worse is that I feel like we are just “swinging from the vines” each day around here just to get through the day.  Not because of anything horrible going on.  I just feel like I have no sense of order and no sense of house management right now.  It is such a weird feeling!

I am so incredibly excited for Hannah’s birthday party this weekend.  It is turning into a bit more work than I expected, but that’s okay.  I want this to be a fun party, and I want to be able to share this day with everyone in our lives who cares about Hannah and our kids (at least those that can make it!).  So far, it seems that we may have about 60 people coming (parents and kids)!  This is one milestone I am going to celebrate all out!!!!

But I do want to share one ironic thing.  My blood pressure issues started when I was around 28 weeks pregnant with Hannah.  My OBGYN had me so doped up on blood pressure meds that towards the end of my pregnancy, I slept most of the day away because I was feeling so horrible (and on strict bedrest).  It was my blood pressure that was the reason we had the Csection at 36w1d and brought Hannah into the world. 

Since her birth, I have had the most horrible time trying to get my blood pressure back down.  Unfortunately, I am one of the ones who didn’t have my “normal BP” return after delivery.  I’m still on BP meds, but much tamer ones that cause no side effects.  Three months ago, my BP was still a bit high for being on BP meds (150s/90s), but my doctor wanted to give me three more months before he upped it some more.

So imagine my surprise when I went in for my BP check this week, and they found my BP was 126/84!  With all the stress and chaos of the past two weeks — hell, the past six months — I can’t believe my BP was normal!!  Yes, I’m still on the same BP meds as before, but maybe my BP is finally starting to mellow out now.  That was some good news.

I have to bring a copy of the NIH’s echocardiogram to Dr. B, our pediatrician, today.  They have all the paperwork ready for the cardiology referral, but they are just waiting this to get it completed.

It is unlike me, but I haven’t even researched this since we found out about Hannah’s atrial septal defect. 

It is interesting because Dr. Eng, Hannah’s genetics doctor, and Dr. B. both had mentioned hearing a slight heart murmur, which according to everything I have read is one of the first “signs” of an ASD, which is why Dr. Eng wanted an echocardiogram last month.

It looks like many times it may heal on its own, but there are some times that cardiac catheterization is required. 

I look forward to hearing what Hannah’s new cardiologist has to say.

During these past few weeks, I feel like I have been on an emotional roller coaster, a journey of self-discovery and self-awakening which all seemed to hit me as we finally made it back home after two weeks of crazy travelling.

For the past year and a half, since I found out I was pregnant, I have felt somewhat disconnected from myself.  It all seemed to pile on top of each other – finding out I was pregnant at 9 weeks after 10+ years of infertility and multiple miscarriages and 4 IVfs among other things, developing pregnancy-induced hypertension at 28 weeks, and then strict bedrest at 29 weeks.  I spent all last summer in bed, only allowed to pick my kids up at camp and to come down for meals.  Then, the “we are doing it now” moment at 36w1d when my blood pressure was just too high, even on the mega doses of BP medications which made me so ill that I ended up sleeping almost 14 hours a day.  I remember asking my OBGYN, do I have time to pack some things?  He gave me 5 hours before I had to come back to the hospital.

Hannah’s entrance was effortless.  A 5-minute CSection without complications.  Apgars 8/9.  She took my breath away.  I remember seeing her for the first time when I was rolled into the recovery area, and I kept saying “Is she really mine?  Is this for real?”

We had about two days of bliss with our new baby girl until all hell broke loose, and things haven’t been the same since…

This past year has been such a whirlwind, almost a blur.  I would have never imagined that I would be thrown into this world

• a world where my daughter’s life is being threatened before she even has a chance to “be” a child
• a world where I would be emailing with researchers and doctors all over the world, trying to learn everything and anything I can about what Hannah’s body is doing to her and what can be done
• a world where previous relationships are unknowingly tested and true colors of people are shown
• a world where the death of a young child is, well, seen more often than a mom should have to experience
• a world where new relationships are formed that are stronger, deeper, and more meaningful than many existing relationships because there is a unique bond, a bond of a child’s life being threatened or taken away

I could have never have imagined this life in my wildest dreams…yet, here I am.

My Dearest Hannah,

Happy Birthday to you, my beautiful and courageous girl.

This time last year, you were just making your way into this world, changing my life forever, in ways that I could have never imagined.   Just looking at this picture of you resting after your delivery, right after your delivery, I see so many much.

 You were given insurmountable odds to overcome.  It just isn’t fair that someone so wonderful, precious, and charming should have to fight every day to stay alive.   I wish I could take away this horrible disease from you.

I fear every day of losing you.  I wish I could say that I don’t think about it often, but I do.  It is almost always in the forefront of my mind.  I want so much to protect you, to help you heal, to save you.

I promise you that I will do whatever I can to keep you with us, comfortable and happy, for as long as I can.  You have made such an impact in our family in just the short year you have been with us, and I can’t imagine life without you now.

There were many, many times that we weren’t sure if we would be able to celebrate your first birthday, but here we are today.  A milestone that every parent loves to see, but for me, it is almost like winning a battle in this war.  YOU MADE IT!   YOU did it!  I am so proud of you.

Every time I look into your eyes and you smile, my heart just melts.  The love that you show me, your brother, your sister, and your daddy is the biggest gift in the world.  You share that gift so often with us.

There is so much more I want to say to you today, this day, but the circumstances just don’t allow for it..  When we get back home, back to our routine, then I can really express everything I have been feeling.

Next weekend, we are going to have you big birthday party, with many of your friends, your supporters, and those that love you.  We want everyone to celebrate this huge victory with us.

I love you baby girl, my baby girl.   Happy Birthday, Hannah.