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!

I am ready for 2010 to be over with.  It was a really, really rough year.  If I listed the good and bad in a list, I will have to say that the bad definitely outweighed the good this year in terms of quantity.  Daddy getting laid off in February and being unemployed for 7 months, almost losing Hannah this summer and her being hospitalized for 6 weeks plus her regression and continuing recovery, moving from Texas to Nevada while she was hospitalized (never did get to say goodbye to our Texas house or our Texas friends), and just the realization of Hannah’s disease on our relationship, kids, extended family, and friends.  Oh yeah, can’t forget trying to sell our Texas house and having to pay double mortgage/rent for 6 months when we were already in a financial stress zone!

Quality-wise, the good realized at the end of 2010 will still outweigh the bad even if the listing on the bad side is longer.

• Hannah is still here, still fighting.  To say she is an amazing little gift is obvious, but it is so hard to put into words how true this is.
• Ethan and Abigail have proven to be such amazing older siblings to her — their patience, their enthusiasm, and their acceptance is better than anyone could have ever hoped for in a sibling relationship (if only they could be that good to each other! LOL).
• As tough as this year was, my relationship with my hubby is still as strong as ever.    We are talk about the tough things, we partner together on raising and disciplining our kids, and we still make each other laugh and smile.  Even though our relationship has been tested beyond anything I could imagine, we still are best friends.
• Reality checks.  There are people in your life, family and friends included, who show their true colors during difficult situations such as these.  People that you think would be Hannah’s number one fighters and supporters turn into those that disappear from your life and don’t want to be a part of Hannah’s life.  Then there are those you have not been close with in many months or years who become your biggest champions.   My heart has been very twisted these past couple of years, but I have realized that my energy needs to stay with those who nurture me not hurt me.
• I need to focus on me now.  I have disappeared.  I feel like for the past couple of years, these past 7 months especially, I am only a mom and wife.  I feel like I have forgotten how to be a woman and how to be ‘me.’  My health, my weight, my self-esteem, and my positive relationships all need to be worked on this year, and as hard as it may be to find time to do it, I do need to try.

I am definitely looking forward to putting 2010 behind me.  I am scared to see what 2011 brings.  I am nervous as to what my thoughts one year from now will be because of what had transpired the 12 months before.

I need to fight even harder for her in 2011.  Time is running out for Hannah.   I need to do more, ask for more, and give more…in so many areas.

The most important thing that Hannah is teaching me that I will bring into 2011 is that I need to be even stronger, more motivated, and truer to my self.  I owe it to her, Ethan, Abigail, my hubby, and most importantly, myself.

We finally got a followup for Hannah’s ‘slightly enlarged aorta’ that was first noticed on our initial trip to the NIH almost a year and a half ago.   It was my fault really.  It was just not high on my list of specialists to get settled, but I knew it had to be done once we were settled.  She last had it checked out back in February in Texas, and they said to follow up in a year.  So we did.

Hannah’s new cardiologist, Dr. Cass, seems like a good fit for us.   She asked the right questions regarding Hannah’s condition, and she was very up front with information.

Hannah had her EKG done first, and then Dr. Cass did the echocardiogram (the ultrasound) herself.   She did note that Hannah’s aortic root is still slightly enlarged, but it is no different really than it was when it was first found out.  So, it seems that in this case, Hannah ‘just happens to have’ an aortic root that is bigger than normal and not by much.

She also noticed some very slight mitral valve regurgitation, but she didn’t feel it was significant enough to show concern at this point.  Just something to keep an eye on.

I loved the fact the cardiologist does the actual echo herself.  She also told us that, within her practice, if one of her patients are in the hospital and needs an echo done, she will actually come to the hospital and do it herself.

Best part was — “Follow up in 1 year” — FINALLY!  An appointment that just seemed ‘normal!”

It has now been almost two weeks since we finished the Haldol taper, and she has been Haldol free.

We have noticed some definite changes in Hannah, mostly positive.

The good is that she hardly twitches when she sleeps now, so we are hoping that means we are getting her subclinical seizures under control with the removal of the Haldol and the upping of her Keppra.  Haldol is known to lessen seizure thresholds, so we are hoping that is the case and now that it is gone, whatever seizure activity she has been having is under control.

The bad is that her movement disorder has worsened to some degree.  Where once she used to hold on to toys and keep them in her grasp, she does not seem to be able to do that as well anymore.  I feel like we are having to put things in her hand and help her get the grasp going now.  She still loves to play with her toys, but it is more of a press-button cause-effect type of thing.  We got her Megablocks for the holidays, and she loves knocking them down.  But I think we are going to have to focus on her grasping and using her hands for fine motor toys again.

You can see this movement disorder most prominently in her face and her hand/arm movements.

Another good is that she is no longer taking two 2-1/2 to 3 hour naps each day.  Even better, she seems to be trending towards sleeping through the night again!  She still takes 1 long nap each day and maybe a second  power nap, but she definitely seems much less sleepy during the day (even though she still seems exhausted much of the time).

But the plan stays the same for now.  We wait until late January to start working on fine tuning her meds for her movement disorder.  We need to get the keppra therapeutic as well as make sure the Haldol is completely out of her system.

I know they say that this movement disorder is not a Gaucher thing.  But I can’t help but think that the oversedation and polypharmacy during her hospitalization this summer created a firestorm neurologically that may not be able to be reversed.