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.

REPOST FROM BERTRAND’S BLOG
http://overcomingmovementdisorder.blogspot.com

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

A 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

Thanks for any help you can provide!

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!!

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.

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.

Please "click" to find out how you can take action and help children still fighting!

Today is the World Rare Disease Day blog-hop, 30 days before World Rare Disease Day on February 29th.   Dozen of rare disease bloggers across the world are coming together to share our personal stories of how childhood rare disease has affected our lives.  (Please check out their stories below)

If you take a look at the statistics about childhood rare disease, the numbers are mind boggling.   The ones that hit home for me were these.

• There are only about 50 children in the U.S. (few hundred world wide) with her form of Gaucher’s Disease, that is it!   Extremely rare even by rare standards, which is a disease affecting less than 200,000 people.
• 30% of children with a rare disease will die by their 5th birthday.     Hannah was 3.
• 75% of the 7000 rare diseases affect children.   Hannah.
• Almost 80% of rare diseases are genetic in origin.   Neuronopathic Gaucher’s Disease, Hannah.

When Hannah was first diagnosed at 5 months old, there was so very little about nGD out there.   It was like finding needles in a haystack just to find any information we could sink our teeth into.   But there was something about Hannah that made her family and I just want to fight like crazy for her.   We wanted the people who could help her the most, the researchers and specialists, to be reminded of the faces behind this horribly rare disease.   In our drive for awareness and answers, Hannah became one of the poster children for life-limiting rare diseases.

As I promised Hannah at her funeral service last month, ”Because of you, other families will be empowered to fight for their children.   Because of you, doctors will have more compassion and resources when working with children with rare diseases.  Because of you, communities will come together for reasons they never did before. ”

We are going to continue to fulfill this promise to her by actively helping other families with young child diagnosed with life-limiting rare diseases in Hannah’s name with our Little Miss Hannah Foundation at http://www.littlemisshannah.org.

It is amazing what one little girl has accomplished in the fight for rare disease awareness in her short life.   To my Hannah:  ”One of your biggest gifts, one of the reasons I believe that we were blessed to have you as our daughter, is the awe-inspiring changes you have made in the world.   What you have done in three short years, most people, including myself, could never do in a lifetime.  You have opened so many peoples eyes, from physicians to friends to strangers, and shown how important it is to fight for children like you, ones for whom today’s medical advances do not have a chance to save.”

The more people who learn about these specific childhood rare diseases, the more they will come to love these children affected by and realize that they desperately need more people fighting for them.   There are very few rare diseases with celebrity spokespeople, millions of dollars in foundations, or rare diseases that are a household name where anyone would know what they are.

Before Hannah, thousands never even heard of Gaucher’s disease or have ever met and fallen in love with a child who would lose their life to a rare disease.

But because Hannah was here, because she fought so hard, all those people that loved her will continue to fight against life-limiting childhood rare diseases in her memory.

I love you, my little miss Hannah.   The world is forever changed because of you.

I have recently met another family with a sweet little girl just diagnosed with Gaucher’s type 2.  Like Addy and Olivia, I have really become attached to her adorable smile and touching personality.

Meet Stella, her mom Kara, and her dad Dave.

Breaks my heart.

I’ve mentioned him a number of times over the past year.  He was Hannah’s therapy friend in Texas.  His mom has been a huge support on so many levels.  Many times when Hannah had PT at Texas Children’s, he would have OT (we had the same OT).  He was an adorable and sweet boy who dealt with his medical condition (mito depletion syndrome) better than anyone I ever knew.    My gosh, the pain this boy suffered due to his conditions, yet still just wanted to play with his duckie and his toys.

My heart is breaking right now.  There is a bit of me that is relieved that he is no longer in pain, but it had to come at the cost of him leaving his parents and three siblings as well as an entire community that loved him.

I keep going back to what a good friend said to me after her son passed away.   That now he can run and play and is not held back by his broken body anymore.   I find myself repeating this mantra so often during times like this.  Maybe it has become my way of dealing with it so it hurts just a tad bit less.

They just got back from the Disney World Make-A-Wish trip.  I keep thinking, thank goodness they had that time together to make those amazing memories.   Once in a lifetime memories and pictures that will always be cherished.

Cooper Knight.  I picture him running, driving his jeep, playing in the clouds with one of his best friends, Samuel, who passed away in September.

She recently spent her first birthday in the hospital getting a trach.  If she did not get the trach, she likely would not be with us today.  

This disease is so horrible.  I could share more about Olivia and her mom’s fight for her, but with her mom’s permission, I will let her mom, Melissa, tell you herself. 

Over the past few months I’ve been posting positive thoughts, pictures of Olivia peaceful and smiling- and all of that is True… only its not all the time. I know that most of you understand the complicated reality that is Olivia’s life.

Recently I’ve found myself reaching again, attempting to make one more “Hail Mary Pass,” calling scientists at my job- maybe they might have something for me, and hopeful that there will be a miracle… maybe there will be. I have my mom setting up a Novena to Terrence Cardinal Cook- many of you have been praying for his intercession already… but I think perhaps a more organized attempt might work. I will let all of you know when/where that will be- if you are not Catholic and do not believe in organized prayer or intercessions- I ask that you just pray during the same time as the novena for a complete healing of Olivia and a cure for Gauchers.

Reality though, if there is not a miracle Olivia’s life will be cut much shorter than any of us had expected. Every day now I am hit with something- albeit a drop in O2 sats, a blue face out of nowhere, a fever, hand and leg tremors, spastic episodes. For those of you that may not understand what I mean by spastic episodes I will explain.

As a result of Olivia’s central issues, her brainstem is not functioning and is triggering episodes where her body completely tenses up (think charlie horse all over) causing her back to arch, and all of her extremeties to become so rigid she can’t control movement at all, also causing her larynx to completely tighten shut- a laryngospasm- preventing her from breathing. Now that she has had a tracheostomy- the laryngospasm no longer causes a breathing issue- but you can tell she still has them.

We have her on a medication that will relax her but in the last two days its not working… last night she had these spastic episodes every few minutes or so until she finally was able to fall asleep. (About two hours) During these episodes, she cries silently, because of her trache she can’t produce sounds yet. Tears fall down her cheeks- and holding her only comforts her briefly… there is no medication, no bath, no song, no book, no hug that will make these go away.

My fears are that sooner than later Olivia will begin to have respiratory issues. Just recently she has not been able to hold her saturation while she is sleeping- no matter how much O2 we give her. She seemed ok after she had been nebulized with Albuterol- but the worry is there. Her condition also threatens her ability to breathe… as the disease progresses the brain will stop telling Olivia to take in a breath… central apnea. My nurses have noted irregular breathing patterns while she sleeps- but she has had that for some time now.

I’ve been sad lately, my mind consumed by Olivia and trying to create awareness…but as I’ve learned over the years- and especially from Olivia… Smile- Always!

I know that this may be hard for some of you- but I wanted everyone to understand that Olivia, and babies/children with Gauchers, MPS, Pompe, MS, Cystic Fibrosis… all chronic diseases suffer more than most of us that are healthy could even fathom. There is no 6 mos protocol with a 99% cure rate at the end… there is no cure, these children are sick, and they are suffering.

But through it all- if we learn anything, although they are suffering they still know to laugh, play, sing, dance, and love. Live your life to its fullest, be grateful for what you have, count your blessings, and appreciate your friends and your loved ones.

Hannah and I love you, Little Miss Olivia.