Hannah is making her mark!

The Little Miss Hannah Foundation was awarded the Genzyme Patient Advocacy Leader 2012 Award for our school-involved World Rare Disease Day program! We were only one of 9 organizations world-wide to receive this honor along with a grant to help us expand our program.

ethan_speaker We are very proud to receive this award for our Little Miss Hannah’s Jeans for Genes Day school awareness program.   It has been a labor of love, and it could not have been as successful as it has become without the help of Ms. Maggiore, Principal of Vanderburg Elementary School, the Vanderburg PTA, the Global Genes Project, and Cure 4 the Kids.

student-16For the past two years, we have celebrated World Rare Disease Day by working with Vanderburg Elementary School in Henderson, Nevada, to increase childhood rare disease awareness.  Special focus is given to those conditions that are life-limiting. Hannah’s disease is also explained and her life provided as an example of how children with rare disease must live each day.

Our program designed for February 22, 2013, has confirmed the participation of three Henderson schools this year – Vanderburg, Lamping, and Barlett Elementary Schools.   With this grant award from Genzyme, we will be able to increase the number of schools to 10 Nevada schools this year!

 From the PAL Awards website:  “Proposals were reviewed on an expanded list of criteria, so in a sense it was even more challenging this year. Patient organizations met that challenge by bringing forth their best creative ideas, strategic thinking and approaches to sustainability. “

Is your child undiagnosed?

8-month-old baby Bertrand ~ Extreme cuteness may also be a symptom.

Bertrand is a little boy, near and dear to my heart – so much so that his mom and I arranged he and Hannah’s marriage at our visit to the NIH.  Please, if you know anyone that can help or fits this description, contact Cristina.


Since the identification of Bertrand’s NGLY1 mutations, researchers are hoping to find/test previously undiagnosed children for the same condition.

potential N-glycanase enzyme treatment has been identified.

I need help finding undiagnosed kids fitting this profile. Matching kids may be eligible to receive a test for this newly discovered genetic (NGLY1) disorder.

The salient features are:

  • Developmental delays
  • Involuntary movements starting in infancy
  • Liver dysfunction detected in infancy- elevated transminases and AFP, all normalized at this time
  • Myoclonic seizures starting in infancy
  • Lack of tears
The presentation of kids with NGLY1 mutations may vary with severity.  Both Bertrand’s mutations are located toward the end of the gene, so his he may actually be one of less affected.

The undiagnosed children may have been extensively tested for congenital disorders of glycosylation and lysosomal storage disorders, returning normal results.

Thanks for any help you can provide!

If only Selena Gomez met Hannah

Over the past week, there have been a LOT of search requests coming to my blog looking for a combination of the following keywords:  Hannah with the rare disease that met Selena Gomez.    At least a hundred or so in the past week.

Apparently there is a teenager named Hana Hwang who also has a rare disease, Progeria, that met Selena Gomez last month.    The amount of exposure to the disease Progeria, the one where children age rapidly, that was raised by this one visit must be staggering.

Progeria is one of those rare diseases that are actually known to a good number of people because of its unique physical appearance and the fascination of how the disease process affects the human body.   It is amazing how a disease that has only about 80 known cases in the world (according to Wikipedia) has gained so much attention in documentaries, celebrity visits, etc.

Gaucher’s Disease, well, doesn’t have a unique physical appearance so unless you knew the child had Gaucher’s, the most you would notice is that the child’s eyes may be crossed (strabismus) as well as some physical and/or developmental differences.   Nothing so striking that you would be able to see a Gaucher’s 2/3 child and say, “Hey, that child must have Gaucher’s Disease.”

Maybe it has happened, but I have never heard of a story where a celebrity made an appearance with a child with Gaucher’s Disease.   Can you imagine how much awareness could be brought to neuronopathic Gaucher’s disease by a single visit like this?    There are a few hundred children living in the world right now with nGD, at least a few dozen here in the U.S.

It really just takes one amazing, heartwarming and well-intentioned visit from a celebrity, like the one Selena Gomez made a couple of months ago to Hana Hwang, to bring about public awareness to rare diseases, especially those rare diseases that take the lives of our children so cruelly like Gaucher’s, Neimann Pick type C, Krabbes Disease, Battan’s Disease, Tay-Sachs, etc.

Hopefully with the momentum that World Rare Disease Day is bringing each year (this year February 29), there will be those few celebrities who might come across a fan diagnosed with one of these fatal rare diseases and reach out to them.   The amount of awareness that could be created by just those couple of hours or so could make such a difference in how the public perceives these diseases.  Having recognition of these diseases like Gaucher’s by the world outside of those of us affected by them could really lead to changes in support and lead to enough funding to find a treatment!

Those of us in the fatal, childhood rare disease community really have our work cut out for us.   But even though I can no longer fight to save my Hannah’s life, I will never give up the fight for awareness for Gaucher’s Disease and other diseases that take the lives of our children.

Ironically, Selena Gomez is Abby’s number one, all-time favorite celebrity.  My Hannah may not have appreciated the visit with Selena Gomez even if it had happened, but Abby would have been in heaven being able to meet her!!

You can rest now, Olivia

Hannah passed away three months ago today.

Woke up this morning to a text that Olivia, one of Hannah’s soul-sisters with Gaucher’s type 2, passed away.    She had just turned 3 years old a couple of days ago.  Today was to be her birthday party, a huge celebration for such a sweet little girl.

I wish I had something poignant to say right now, something that expresses how angry and how devastated I am about Olivia.  She and Hannah looked so much alike, especially when they were younger.  They really could pass as sisters.

Right now, I’m just really, really sad.


Why I Celebrate World Rare Disease Day

Second Annual World Rare Disease Day School Event

Our family being interviewed last year at Vanderburg's WRDD event.

What a difference a year makes.

This time last year, we were preparing for Vanderburg Elementary School’s first World Rare Disease Day event.  To our family, this was a HUGE gift from the principal and staff of my kids’ school.   The entire school left their uniforms at home that day, and over 90% of them wore jeans to school.   Jeans for Genes Day!   It was absolutely incredible.

Hannah was the star of the event.   Sharing her adorable smile and just pure happiness with many of the students and staff at Vanderburg as well as a reporter from our local newspaper.   She just charmed everyone that day!

Fast forward to this year.  It is somewhat bittersweet knowing that we will be going back for this event again, but Hannah is not going to be with us.   It is a bitter pill to swallow, but this event is so incredibly important.   It is even more important know that Hannah is no longer here because not only do we get to share her story again, but we help educate the school kids and staff at how important it is to fight for kids like Hannah whom are affected by genetic diseases that no one has ever heard of because they are so rare.

Tomorrow morning I meeting with the staff to share our plans for this event as well as hand out the hundreds of ribbon making kits donated by the Global Genes Project.

Last year, I was able to bring Hannah with me to meet the teachers and staff at Vanderburg to go over the game plan for the event.  They were able to meet the sweet girl they were helping us fight for.

Tomorrow morning, it will just be me sharing Hannah’s story.   I don’t know why I am nervous.   I am not usually nervous talking in front of people, but many of these people were able to meet Hannah last year.   They know that she has passed away.   But now her story has changed, and it is isn’t the way we wanted it to change.

My Hannah.  She was the fighter.  She was the one that made me want to be a fighter.   I just wish she was here to give me those smiles and cuddles that made this fight so much easier.