I have a dream

With Ethan and Abigail having fun in California and Hannah at home with her nurse today, Daddy and I took some much-needed quiet time together and went out for lunch.   It has been very rare that we get to spend time, just the two of us, these days.

During lunch, we fantasized about what we both would like to be doing right now with our lives.  With him still being unemployed (even though he has sent out over 200 resumes) and my part-time job contract over, we are both trying not to dwell on how desperate our financial situation has become these days.

You know what I really want to do?  I mean, truly, deep down, if I did not have to worry about an income type of job?

I want to create the Little Miss Hannah Foundation.   There would be two purposes for this foundation.

• One is to help raise money, fund research, and create awareness on a larger scale for neuronopathic Gaucher’s Disease and it’s closely related disease cousins such as Niemann Pick, Battan Disease, Krabbe Disease, and Tay-Sachs Disease.  I am so impressed with what Chris Hempel and the other families in the SOAR-NPC group have done for Niemann Pick type C, and I want to be able to have the time and resources to do that, truly make a difference in the lives of our nGD kids like Hannah.   I want to be able to work with groups like the Children’s Gaucher Research Fund and National Gaucher Foundation as well as the other related-disease foundations.
• Second is to create an outlet for other families of children of rare diseases to have someone to reach out to on a personal level, to help guide them to finding the right information on their disease, help them search out experts and foundations that can help them, help them get awareness for their disease community, and just have a true contact where parents can reach out to a real person, one-on-one contact, to help them during these times.   I want to be able to work with the Children’s Rare Disease Network, NORD, and other rare disease organizations to really get involved in the politics and legislation of children’s rare disease research.

I want to be able to make a difference.  My heart is there.  I have spent many, many hours over the last two years trying to figure out how to do something like this.  Before Daddy lost his job, we had no respite help so there was little time for me to be able to do anything other than take care of Hannah and be a present mom to Ethan and Abigail.

I have an intense amount of guilt that I don’t spend anywhere near as much time as I used to researching, talking to other disease communities and foundations, and really trying to get media awareness.   It was a hard admission realizing that the line I had to take in order to give Ethan and Abigail, especially Abigail, the attention that they needed because of Hannah’s constant special needs was much shorter than I had wished.

But now that we have nursing for Hannah, the kids are in a much better place mentally (especially since we live near family), my drive to get back into working with others on finding a treatment for Hannah and working with other parents of rare diseases who may not know where to start is HUGE.  But now, lack of income is the obstacle.  You can’t earn an income from volunteering and having a foundation.   And without an income, we can’t survive as a family.

I’ve been studying for the past month or so to get back into website design, something I do enjoy doing.  But there is not a guaranteed income here either, but it is something that I know I have a talent for and hope to be able to make an income in a few months doing.

But my dream job, my “calling” if you will, is to make a difference in the childhood rare disease community.  In my heart, I know this is something I could do well and really make a difference in someone’s life doing.  I have such big ideas, big plans for my Little Miss Hannah Foundation.   Those of you that know me well know that if I have my mind on something, I will find a way to get it done.   I have quite a few friends and acquaintances who have many talents, in marketing, researching, etc., that I know would be able to count on for advice, help, or counsel once I get started.

For now, it is just a fantasy that I have to tuck away every day and concentrate on “real life.”

Someday…I hope…

Creating Hope Act 2010 Bill Would Extend Priority Review Voucher System To Rare Pediatric Diseases

** By Chris Hempel

Great news for the pediatric rare disease community came out late last week — rare disease advocates please get this out on your blogs!

Senators Sam Brownback (R-KS), Sherrod Brown (D-OH), and Al Franken (D-MN) are supporting the bipartisan bill S. 3697, the “Creating Hope Act of 2010.” Nancy Goodman, Executive Director of Kids v Cancer, is the person leading the charge on S. 3697 and a priority review voucher system for pediatric rare diseases.

In 2009, Nancy lost her son Jacob to a rare pediatric cancer called medulloblastoma. She is an inspiration to all in the rare disease community!

The Creating Hope Act of 2010 builds upon the Food and Drug Administration Amendments Act of 2007, often called the “treat and trade” program, which established a priority review voucher program for drugs or biologics targeting neglected tropical diseases. At the time this bill was passed, rare childhood diseases were excluded.

he Creating Hope Act of 2010 will encourage the creation of new drugs for underserved children like Addi and Cassi who suffer from serious and life threatening medical conditions by providing a priority review voucher (PRV) as an incentive to pharmaceutical companies who develop drugs for rare pediatric diseases like Niemann Pick Type C.

This is exactly the type of novel incentive system I have been asking for that could fast track cyclodextrin research. For example, with a PRV system in place, I could get a company like Johnson and Johnson to actually take on Niemann Pick Type C disease research and help me make a cyclodextrin drug for Niemann Pick Type C kids.  In turn, Johnson and Johnson could receive a priority review voucher that gives them priority FDA review of another application that would otherwise be reviewed under FDA’s standard review clock.

This priority review voucher could be used for a blockbuster drug that a company would want want to bring to market and receiving priority review could mean millions of dollars to a Pharma or biotech company.  This is why they would be willing to invest in Niemann Pick Type C research and cyclodextrin and help our small community bring a potentially life saving compound to market for kids like Addi and Cassi.

Since I already have an orphan drug application filed and approved with the FDA, having a priority review voucher system in place potentially makes Niemann Pick Type C an attract investment risk by Pharmas or BioTechs.

Priority reviews vouchers for pediatric rare diseases are a  win-win for everyone!  We need to rally the rare disease community to fight for the passing of S. 3697, Creating Hope Act 2010 bill.

Below are some key provisions of the S. 3697, Creating Hope Act 2010 bill:

• Extension to pediatric rare diseases: This legislation includes rare pediatric disease within the scope of the program. This category encompasses any disease that is “rare” within the meaning of the Orphan Drug Act (affects less than 200,000 people, or the cost of development would exceed revenue) is recognized in the medical community as affecting a pediatric population and is a new drug that has not received FDA approval for an adult indication
• Closing a loophole: This legislation would prevent companies from receiving a voucher for tropical disease products that they already market in other countries. This change will ensure that the program rewards only innovative treatments
• Unlimited transferability of vouchers: A voucher may now be transferred unlimited times provided that the transferee, in each instance of transfer, notifies the FDA of the change in ownership. This change enables drug companies to maximize the value of the voucher in the marketplace
• Optional upfront priority review designation process: Under the current law, sponsors do not know whether their new drug application will qualify for a voucher until the time of FDA approval. The proposed legislation permits sponsors of both tropical disease drugs and rare pediatric disease drugs to seek a designation that the new drug would qualify for a voucher, should it be approved, even before they submit their new drug application.
• Adds Chagas disease to the list of neglected tropical diseases: Chagas disease is responsible for more deaths in Central and South America than every other parasite-borne disease, including malaria. Yet, despite its profound impact, research and development of new treatments is severely underfunded. The addition of Chagas to the list of eligible diseases fulfills the intent of the original authors.
• Reporting and marketing requirements: The Creating Hope Act requires that the sponsor submit a statement of good faith intent to market the eligible drug, as well as a report describing the demand and distribution of the ultimate product.

Article Source

Little Olivia, Sweet Olivia. Life with type 2 Gaucher’s.

This beautiful sweet face is Olivia.  She was diagnosed with Gaucher’s Disease type 2.  I have talked about her any times on here (including my last post, I believe).   She and Hannah have so many similarities, both in presentation of symptoms and, well, they just look very much alike!  I call Olivia Hannah’s “soul sister.”   She has totally captured my heart. 

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.

A Devastating Blow

Daddy lost his job today. After four years with the company and only three months in this dream-job position, he was let go. He is our main source of income plus our insurance was under this job. Hannah’s livelihood and survival to this point has relied exclusively on the generosity of our insurance — the multiple private therapies, orthotics, her gait trainer (which we don’t have yet), procedures, doctors, etc.

We are devastated. Our income is now based solely on my menial part-time job, which in no way could support our family, not even close. He is going to apply for unemployment tomorrow, but everyone knows that won’t even come near to what he was making. Hopefully Hannah’s medicaid will come in within the next month or so, but still —-

I don’t know what we are going to do.

The Scientist Magazine: A Rare Chance

First ER visit for breath-holding spells

We made it 16 months without a hospital visit since Hannah was born. 

Hannah had these hyperventilation episodes when she gets upset or frustrated.  It doesn’t happen often, although it seems to be happening a bit more now (mostly when we are driving long distances and she gets antsy or when she starts throwing a tantrum).  There were also about 3 episodes where she would start choking on a piece of food (cheerios, goldfish, or vienna sausage), and she would have what seems like a panic attack and stop breathing for about 30 seconds or so even though the food has been dislodged.  During both the hyperventilation episodes as well as the panic attack episodes, we would just hold her and cuddle her, and she would calm down.
 
This afternoon, she started choking on a cheerio while sitting in her high chair (I think).  She started panicking, and she went into another one of her episodes where she starts freaking out and stops breathing and acts as if she is choking.  I wasn’t able to calm her down this time, and a few minutes into it, she started turning blue around the mouth, so we called 911.

It was just me with Abigail and Ethan.  Ethan was freaking out a bit, and Abby just sat there eating her chips almost trying to tune it out.  I felt so horrible for them, even though I was trying to act very calm.  By the time the paramedics and firemen came (a big truck and an ambulance) and it was decided to take Hannah to the ER, I sent the kids over to my neighbor’s house.  Looking back, I probably didn’t handle that the right way, but I was really scared at that point.
 
In the ambulance, her O2 sats were down a bit (I believe between 92 and 95), and she was still acting panicky and trying to catch her breath but also very upset.  The paramedics suggested we take her to the ER with lights and siren to get her checked out.  By the time we got to the hospital, she was calmed down, 02 sats were better, but she was a bit lethargic for about 5 minutes.  She calmed down completely while they gave her a breathing treatment (may or may not have helped) and came back to complete normal a few minutes after that.  Then she fell asleep for almost 3 hours there.  Chest Xray was clear.
 
The paramedic who was in the ambulance with her said it was almost like she was having a seizure, but she wasn’t.
 
Long story short, the ER pediatrician believes she has breath-holding spells with seizure-like activity based on her history and today’s event.  She also believes that because she has the weakened vocal cords and laryngomalacia, it may or may not have exacerbated this.  After reading this Webmd article, this sounds exactly like what we have been seeing for the past few months. 
 
The ER pediatrician put her on an oral steroid for three days because she was concerned about inflammation “just in case.”  Also, she believes Hannah may have croup, but she is not sure.
 
She is back to being completely normal acting now, back to her happy self with normal breathing.

I have absolutely no idea whether or not this is related to her Gaucher’s disease or perhaps it is just exacerbated by it.  Or maybe it isn’t even related at all to it, and it is just another something we have to deal with.

Regardless, because of the severity of what these spells can bring, we have had to prepare ourselves for more 911 calls and ambulance rides to the ER because of it.  We also warned Ethan and Abigail that she has this condition, and it may happen again.  We need to work on an actual plan in case something like this happens again.

My “person”

I read an article a while back that when you are going through this “special needs/life-limiting disease”  lifestyle change, you need to find just one person who you can connect with completely.  Someone who understands your fears, your chaotic thoughts, and your many stages of grief.  It can’t be your spouse or family member, the article said.  It had to be someone else who is invested personally in this journey.

I feel so lucky to have found my “one person.”  She is a mom who has a child with similar issues as we have been presented with Hannah. 

There are so many emotions that I have been feeling over the past few months, and she is the only one who I can come to completely about my thoughts, not worrying if I’m not being politically correct or not.  Just laying my feelings out there as they are — raw, naked, and the complete truth.  She gets me.  She is living the same thing I am to some extent, and she and I just have that understanding.

I think this relationship was solidified when we were able to meet in person.  She is no longer just an email address, but she is a mom who I can share laughs with about the ridiculousness of some of our situations, the fears that we both face with losing our children, and the stresses about transitioning to a special needs lifestyle from one where I was told my child probably wouldn’t live one year.

I am so so so so so so thankful for her.

Next Page »