Hannah’s Toy Box – My Work in Progress

The New York Times posted an article a few weeks ago about a young boy, Owen Cain, who was diagnosed with Spinal Muscular Atrophy, type 1.   His family had spent thousands of dollars on assistive communicative devices over the years, but they were never able to find something that was a good fit for their family.

Until Owen’s nurse came over with an iPad.

Owen’s world changed.  Not only is he able to play interactive apps, but he is also able to read books and play Air Guitar.

This hit so close to home for me!  I have been working with Hannah on my phone’s piano app, but the screen is small and not very conducive to a toddler with poor fine motor skills.  But that does not stop her.   Our hope is to someday soon get her an iPad as well because there is a huge world of apps that I would love to try with her.

This article was my inspiration for starting this new blog. My goal is to share the information that I find on toys, equipment, software, media, and other technologies with other families of children with special needs.   There is a world of items out there that I have yet to find, and I hope to be able to share all my treasures so that other families don’t need to search as well.

I would like to ask that all Hannah’s faithful followers to please take a visit to either the new blog or to Hannah’s new Facebook page (and ‘like‘ it) in hope to help me spread the news of this new venture!   You are the first ones to check it out!

Needing to “get over it”

Sometimes I tell myself that I would be better off talking to a therapist about the things going through my head. But then I tell myself that I already know what the therapist would say. It is not that I need to talk things out, I just need other things to fall into place.

This past week, I have been going through a lot of issues that seem all be weighing me down — jealousy issues, frustration issues, disappointment issues, anger issues, fear issues, etc…major reality check, in what seems like, all areas of my life. These issues are taking the forefront in my mind, and it is really bringing me down. It isn’t just related to Hannah’s condition, although it is a good-sized portion of it. It seems to encompass so many different areas in my life. Much of it also sprouts from our financial instability at this time.

I don’t do the “why me” thing. It is more of the “I just don’t get why it is that…” thing. Similar, probably. But not exactly…at least in my mind.

Admittedly, I am just not a happy person these days.   Heck, I have not been a happy person for most of 2010.  There are certain things that I hope that once Daddy finds a job and we have an income that is more than our expenses that other things will come into a better light. There are also certain things I know that I will never understand “why” or “how come.”

I’m in my early 40s now, and my life is passing me by. I want to start to have fun again. I want to want to feel like a woman again (because right now, I am last on my list). I want to have some freedom to do the things that I love to do – scrapbooking, theatre, going to events. I want to have a job that I am truly passionate about and love to do, not one that I have to accept because we need the money. I want to have some sense of normalcy in my life. I want to not dwell and get depressed on why certain people are the way they are.

I want to be a better mom, better wife, better friend…a better me.

I want to be happy again.

I keep telling myself I need to “get over it” and move forward. But I feel hopelessly stuck — There are just too many things I need to work on. I feel like there are just too many strikes against me — some I brought on myself, some brought on from the outside. I know better too — but it is almost as if there are too many things to try and change that I don’t know where to start, so I do nothing.

I need life to cut me a break and give me some hope.   Give me some good news that will help get our family back on track.   Something that feels as if we are going in a positive direction finally.

I just need some help getting those first steps taken so I can move forward.

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

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