Hannah’s fight against childhood rare disease

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.

Meet Stella

I have met so many wonderful families with children diagnosed with Gaucher’s disease types 2 and 3.   Some children that we have lost like Ethan, Kyle, and Niama who have never left my heart, and then there are others still fighting like Addy and Olivia who I have become so attached to that I feel like they are part of my family.

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.

Trying not to dwell…

The last couple of days have been pretty emotional for me.

Our nurse had left early on Monday, so I spent Monday afternoon cuddling with my Little Miss Hannah.  I didn’t mind one bit.   Then I was watching the Oprah farewell surprise show, and when Rascal Flatts came on to perform their song “I Won’t Let Go,” I found myself bawling.

When I first heard this song months ago, I had always felt a huge connection to this song.  Almost as if it is my promise to Hannah that I will always fight for her, even when she is tired of fighting.

Daddy and I both have seen a pretty drastic deterioration of Hannah’s condition in the past few months.   She doesn’t crawl anymore.  She can’t control her hand movements enough to even work the special needs apps on her iPad.   Her strength and tone has significantly deteriorated to the point where she only feels “safe” lying on the floor or being cuddled.  She doesn’t feel very comfortable even sitting in her therapy chair these days.

She is just so very weak these days.  I don’t know what is causing all of this.   Since the decrease in Klonopin, we have seen Hannah become more alert and smile more, which is wonderful.   But she has no energy or confidence to do any type of activity anymore.

It is heartbreaking to see my little girl like this.   I have been having horrible thoughts about the “what if’s” lately, and it scares me to death.

I’m trying not to dwell on this and enjoy every day with her.  I am so thankful that I can still make her smile, grin huge, and just give her all the love that makes her happy.

I am just scared of what the future is going to hold for her…for us.

Moving to a home

The house that we were looking at earlier in the week and made the offer on is now in escrow!   The bank didn’t go for our 60-day escrow, but they did agree to a 45-degree escrow.

This would give us about 5 weeks between the new house and having to move out of this house.   Probably a good thing with everything going on.

I am very excited to move forward and get a HOME.   We still have to go through the inspection process and everything, so I’m not getting too excited just yet…just in case.

The only bad thing that is upsetting is that the kids will no longer be in Vanderburg’s school zone.  Even though we are just two miles or so away, we are still zoned for another elementary school.   We thought about getting Ethan a voucher so he can finish up his elementary school at Vanderburg and let Abby go to the new school, but we then found out that they even may be different middle schools so we would rather Ethan do his 5th grade with kids he will be going to middle school with (and may possibly be neighbors with).

After everything Vanderburg did for our family, I feel like I am letting them down in a way.  Stupid, I know.  But they just offered to make World Rare Disease Day events a yearly thing, and now here we are moving out of the school.

But then I remind myself that we will finally have a home, have roots, and maybe finally feel settled.   That is priceless.

Run and play, Cooper Knight!

Cooper passed away last night.

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.

 

Undercover Boss and MPS (Sanfilippo Syndrome)

Did you catch Undercover Boss last night?  The one with the CEO of Mack Trucks?

We were watching it last night with the kids, and when it showed that little snippit preview of the grandfather talking about a disease where his kids are “missing an enzyme,” Daddy and I just stopped in our tracks.   We both looked at each other like, “WHAT?!”

After all, Hannah’s disease is exactly that.  She is missing the enzyme needed to break down fats in her body.

It turns out that this grandfather had two grandkids with MPS III (Sanfilippo syndrome), which is in the same family of diseases as Gaucher Disease.   Where as Hannah is missing the enzyme to break down fat in her body, MPS III is missing the enzyme to break down mucopolysaccharides in the body.

When the grandfather said that they needed 24-hour care, my heart just started racing.

That man understood what our life with Hannah is like.  Hannah also needs 24-hour care, someone always there to keep an eye on her whether she is awake or asleep.   Watching your child’s life deteriorate every day, nothing you can do about it, with very little research on the horizon to provide even a treatment.

Even though it wasn’t Gaucher’s disease mentioned, the amount of national awareness for any diseases in our lysosomal storage disease family is a huge welcome.

Are Rare Diseases Approaching A Tipping Point?

Reprinted from the RareDiseaseBlogs.net:

The summer of 2010 saw remarkable activity related to the development of treatments for rare diseases. The U.S. Food and Drug Administration hosted a two-day public hearing for patient advocates, industry, academic researchers and others to voice their views on current procedures and possible ways to improve them.

The Senate HELP (Health, Education, Labor and Pensions) Committee also hosted a hearing, this one focused on rare pediatric diseases and how to accelerate the development of treatments for them.

New legislation introduced in the U.S. Congress this summer included two bills specifically related to rare diseases—one to remove a roadblock that might keep financially strapped patients from participating in clinical trials (the Improving Access to Clinical Trials Act), and the other to enhance incentives for development of drugs and biologics for children with rare diseases (the Creating Hope Act).

These events and actions might seem small and random to some, but I believe they may signal that orphan product development is approaching a “tipping point”—a point at which change becomes inevitable. And with rare diseases, where only about 200 of the nearly 7,000 known diseases have treatments, and many are not even being studied by researchers, change is a good thing.

Consider other current and upcoming events:

• A Rare and Neglected Diseases Caucus has just been launched in the U.S. Senate.

• FDA and NIH, with the help of NORD and Duke University, have created a Rare Disease Investigator Training Course to be offered for the first time in October. The course was “sold out” almost immediately after it was announced.

• NORD hosted focus groups of key stakeholders and found tremendous interest in rare disease research if appropriate ways could be identified to increase transparency and de-risk the process.

• FDA created an Assistant Director position to focus specifically on rare diseases in its Center for Drug Evaluation and Research.

• NORD in the U.S. and EURORDIS in Europe announced a partnership to encourage and facilitate global thinking among patients.

• Several “big Pharma” companies including Pfizer, Novartis and GSK have recently announced their intention to expand involvement in the rare disease space. While innovative small biotechnology companies should be applauded for all they have done to date, patients also welcome the interest of these larger pharmaceutical companies.

Malcolm Gladwell, who made “tipping point” a household word with his book (The Tipping Point: How Little Things Can Make a Big Difference) published 10 years ago, wrote that in any situation, 80 percent of the work will be done by 20 percent of the participants. These 20 percent, he wrote, are people with enormous gifts for communicating and inspiring.

They are also people who are driven by an overpowering sense of the importance and rightness of their cause. And that’s certainly true of those who are promoting progress in orphan product development on the scientific, advocacy, and regulatory fronts today.

I believe we may be approaching a tipping point in rare disease research and orphan product development. And, if that’s true, it’s wonderful news for the millions of people who have rare diseases for which there is currently no treatment.

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