Archives for January 2011

On January 24th, I have been invited to give a web conference to all the Genzyme Case Mangers and Patient Care Liaisons.   It will share our experiences with raising a type 2/3 child, educate them on what type of support parents of neuronopathic children need (which is much different than a type 1 patient), and offer suggestions as to how they can better serve the parents of type 2 and type 3 kids.

I am so excited about this opportunity.  Finally, a chance to create awareness and understanding with those who work directly with other families!

This means so much to me on so many levels.

• I’m proud that the people at Genzyme believe enough in what I have done so far that they want me to share it with their staff.
• I’m proud that Genzyme realizes that families of type 2 and type 3 children need case managers and patient care liaisons who have a better understanding of this form of Gaucher’s Disease and how it differs from type 1.
• I’m proud that (hopefully) any new family that receives this diagnosis and begins Cerezyme treatment will have case managers who can better take care of them instead of feeling lost in the Gaucher type 1 world.

This is just huge to me.   Finally, recognition that type 2/3 needs more specialized support.  Now Genzyme is taking active steps to be able to provide it to their current and future clients.

As I mentioned in my previous post, my dear friend Julie kicked my butt into really going after the changes I would love to make.

Goal: For my kids’ school to allow jeans to be worn in honor of the Global Genes Project on World Rare Disease Day, February 28, 2011. Even though they are a public school, they do wear uniforms.

I would be so proud to see their school allow the kids to all wear jeans on that day in honor of all those children in the school who have siblings, family, and friends who are affected by childhood rare diseases.  The awareness that this could bring, even with just one school, would be HUGE for our city.  It would not only enlighten the children about the importance of awareness and research to help other kids, but it would create a wonderful amount of exposure, as it would also educate their parents about rare disease.

The wheels are in motion to try and put this in place.  There are some wonderful people helping me with this, believing it is important as well.   At this point, it is up to the principal to see if she would be willing to make this exception to their uniform rule.  I know it is asking A LOT, I do recognize that.   This isn’t an easy decision, I’m sure.

I’m keeping my fingers crossed.  Keeping my fingers crossed that on February 28th, 2011, all the kids in my childrens’ elementary school will be wearing their jeans instead of uniform pants.

They would be wearing their jeans for a specific reason…a conscious decision they made to show that they do believe that children like Hannah deserve a chance at life.

Jeans for Genes…  If I don’t ask for help creating awareness, it will never have a chance to happen.

A very good friend of mine sent me this link earlier this week.  It was a news piece about a family, who had a daughter with a very rare disease, that sent out an email looking for financial help to raise money for research on this disease.  Not very unusual, I know.  But this one email took on a life of its own, and they raised over $175,000 for research.  To me, this was like they struck oil.

One family, one email…turned into an amazing step forward towards saving their daughter’s life.

So when my friend shared it with me, all I could think of was how scared I had been to put that kind of direct request for help out there.  To go up to someone and say, “Here is what I am doing.  Please help me with raising money, awareness, time, etc.”

I always felt like we were mostly alone in this fight when it comes to the real getting into the foundation of what it would take to save Hannah’s life.   People that I expected to jump into Hannah’s fight ended up doing nothing, offering nothing, and when asked, rejected my request for help.  You know, it is one thing to post “please donate” on my facebook status or blog, but to ask people for money, their time, or resources directly, well…I just didn’t’ feel comfortable with that.

I admit it.  My self-esteem, my fear of more rejection, or whatever you want to call it kept me from trying to make real inroads into making the changes I had envisions since Hannah was diagnosed two years ago.  I felt that if the people I expected to help just by sake of who they were didn’t want to be involved, why would other people want to help?

Now I know that I have made some small progresses here and there, so it is isn’t to say that I feel I haven’t done anything.  Because, well, I know I have.  I am proud of what I have accomplished so far, especially with bringing the neuronopathic Gaucher community together, the media attention, and getting Hannah’s story out into the Gaucher research world..  I am proud that I am responsible for raising almost $5000 for the Children’s Gaucher Research Fund, even though this was mostly from a few good friends.

But I look at what I have done, and none of it requires people to really get involved donating their time or skill for something big.   Something that could make a huge change.  I never proceeded with anything because I didn’t want to hear, “I’m sorry, I can’t.”  Because to me that was saying, “I’m sorry, Hannah just isn’t worth my contribution,” regardless if that was what they were really saying.

After learning about this family’s story, how this one email could make so much of a difference, I decided that maybe I can have this type of lucky strike as well.  I have ideas that I think could make a difference.   I also came to the realization that if I don’t ask for help, if I don’t give people the opportunity to help, that I am creating my own rejection without giving anyone a chance.

So I have started doing just that.  With not just one project, but four different projects.  Four projects that will hopefully make a permanent change moving forward within not only the nGD community but the childhood rare disease awareness as well..  I am going BIG.

I have started by asking people directly, some who barely know me, “This is my goal.  Will you help me with my XYZ project.”    I literally tell myself dozens of times a day to “Just do it.  The worst they can say is no.”

And even though I have just scratched the surface of putting these projects together, the very few people that I have asked for help from so far have enthusiastically said, “Yes.”   If even in the end only one of these project ideas comes together and is successful, then it was all worth.   One step forward is better than standing still.

The foundation for these projects are already starting to be laid as we speak.  Be forewarned, I may be asking you for help next 🙂

Twenty minutes until the clock strikes midnight here.  Everyone is asleep, even Daddy.  We had a very quiet but nice evening at home with the kids.  We had BBQ meatballs, potato chips, carrots and dip, and made-to-order ice cream sundaes!   We celebrated the Disney Channel East news years, so the kids were able to have the new year celebration with the characters from the shows they watch (way too short, I expected more!).

But they are all asleep now, all snug in their beds, 28 degrees outside.    I just put on Hannah’s humidified trach collar, which she will wear for the next hours years just to keep her trach and lungs moist (when she gets too dry, she gets junky and harder for her to breath).

Taking a cue from my friend, Cristina, I thought it would be interesting to revisit this past year through my blog postings by sharing the first post of each month.

• January 2010 – Cruisin’ into 2010.  Wow, this is when Hannah first started crawling more than a few feet.  I remember taking this video and wanting to share it with the world, I was so proud!
• February 2010 – Nursing Home Visit – Third Time is the Charm! Wow, I remember what a nightmare trying to get Hannah’s Texas medicaid nursing home visit completed.  I hated this ‘requirement.’
• March 2010 – Stealing pajamas.  Oh wow, I LOVED it when Hannah crawled into our bathroom to steal her sister’s pajamas!  Motivation, distance crawling, and just being a sneaky little girl.  LOL
• April 2010 – Weekly update.  Yeah, I remember being overcome with this feeling that Hannah definitely was becoming a toddler at that point, attitude and all.  This was also when we started seeing what we now know was more neuro damage with her W-sitting, curled toes, etc.
• May 2010 – S.O.S. Wow, I thought I was stressed out and overwhelmed back then.  Never would I think just two weeks later our life would change so much when Hannah became so sick.  What I would give to go back to that level of stress.
• June 2010 – PICU, Day #15 – Sedation and Bacteria.  No comment.
• July 2010 – Ativan Withdrawals suck!!! And this was only the beginning…
• August 2010 – Baby ‘food’ steps.   I guess the good news is that we got her feeds under control.  The bad news is that she is aspirating even tiny bites of food now, so …
• September 2010 – Needing Hope.  I remember when Abby made that comment that my heart just stopped.  This was hard to re-read because I feel much the same way today.
• October 2010 – Hannah and Minnie.   …and Minnie and Mickey are still a big fixture in this house!  I love these pics.
• November 2010 – Ugh, this dang movement disorder!!
• December 2010 – Lots of Docs and Therapy.   And it all starts up again next week.

One minute until midnight.  Goodbye 2010.  Hello 2011 and hello hope!