Archives for February 2009

Today is World Rare Disease Day!

28 Feb by Carrie


The last day of February has been designated as World “Rare Disease Day” to call attention to the public health issues associated with rare diseases. The Project Charity — The Children’s Rare Disease Network has compiled some facts and figures about rare disease that we thought would be of interest. If you have other facts and figures not on our list, please send them to us. We are particularly interested in international facts on rare disease that do not seem to be available.

Please visit the Official Gallery page — Do you see a cute little girl in the third row getting a Cerezyme treatment? 🙂

DID YOU KNOW…

  • Approximately 7,000 rare disorders are known to exist and new ones are discovered each year
  • Rare disease affects between 25-30 million people in the United States and approximately 30 million people in the European Union
  • One in 10 Americans is living with a rare disease
  • Children represent the vast majority of those afflicted with rare disease
  • Approximately 80 percent of rare diseases are not acquired; they are inherited. They are caused by mutations or defects in genes
  • In the United States, rare diseases are defined as those affecting 200,000 or fewer people or about 1 per 1,000
  • Rare disease is often referred to as an “orphan” disease
  • Orphan or rare diseases are often not pursued by the pharmaceutical industry because they provide little financial incentive for the private sector to make and market new medications to treat or prevent them and because there are not enough patients to make research cost-effective
  • Research on rare diseases can often lead to advances in our understanding of common diseases such as cancer, heart disease, diabetes, stroke and other major health problems
  • As a whole, rare diseases represent a large medical challenge. Combine this with the lack of financial incentives to treat or cure rare diseases, and a serious public health issue is created
  • The US Orphan Drug Act (ODA) of 1983 has been one of the most successful pieces of health related legislation ever enacted in the United States. Through a system of tax credits, government grants, assistance for clinical research, as well as seven years marketing exclusivity, the Orphan Drug Act has resulted in hundreds of approved orphan medicines, treating over millions of patients worldwide. Similar legislation has been adopted in Japan, Australia and the UK

~ Filed Under: LMH Foundation

Overdue Thank-You’s…

27 Feb by Carrie

This post has been a long time coming, but as I watch Hannah sitting here playing with her toy and smiling, I know now is a good time to do it. There are so many people I want to thank (I feel like I’m giving an awards speech) for their emotional support, financial support, and just going out of their way to help us deal with our situation with Hannah.

  • Heather C., her family, and friends. From the beginning that we connected (and we haven’t seen each other in over 20 years), she has done so much — researching medical things, fundraising, creating awareness, etc. I feel guilty because it seems she spends almost as much time fighting for Hannah as I do! The least I could do is to share this wonderful children’s book that her husband has published — They are even considering donating a portion of all their books sold to Hannah’s cause! So please, please take a moment to check out his book – Monsters, Monsters, GO AWAY!
  • Erin at LotsToSayBaby.com. She read how we kept losing pacifiers and that Hannah only liked the MAM kind. So she sent us out three of their pacifiers (just like MAMs) without any expectations, just because she wanted to help.
  • Brian at StudioPress.com. Brian donated a copy of his popular wordpress theme to us so that we can build a better blog, a place not only for us to share Hannah’s story, but a one-stop place for other parents of Gaucher’s Type 2 and 3 to find a home. I can’t wait until it goes online!
  • My oldest friend in the world, Julie. We have known each other since we were 4 years old, and when I put out the donation button, she not only was the first one to donate, but she was also the largest donation we have received.
  • My uncle, Larry. He said something to me after we first got the diagnosis, and we were talking about the possibility of having to declare bankruptcy and losing our house because of medical expenses. He said “We won’t let that happen.” Five words. Just the fact that it was said was said meant so much.
  • My brother-in-law and sister-in-law. My sister-in-law has been doing so much research into seeing whether or not her new baby’s cordblood (my new niece) would benefit in any way. She has contacted so many researchers and companies. My brother-in-law started fundraising for us before we even thought about doing it ourselves.
  • My neighbor moms. I reached out to a few neighbor moms here about the possibility of doing a fundraising walk, and every single one of them said they would help. Already this fundraising walk here is taking on a bigger possibility than I could have ever done on my own.
  • My other Moms on a Mission. Karen G., Lindsey S., Chris H., etc. I have learned so much from all of you, and I feel like I have known you all for so long. We are all fighting for our daughters together, and we will succeed.
  • My loyal commentors. There are so many of you that continue to come back and leave not only words of support, but you leave comments for me to think about. The fact you take the time to point out things I may have overlooked or that you don’t think would be a good idea means a lot. It means you are really involved.
  • Those who have donated money. We have had a handful of donations so far ($3200+ towards the mouse!). The fact that you were willing to donate to help us is wonderful. Thank you to Karen P., Julie E., Brian G., Heather C., Stacey T., Margret C., Todd W., Candice T., Carol C., Paula N., Sara M., Kelly D., and Alison D.

There are more people to thank, but Hannah is getting restless and wanting hugs. Gotta take care of that! I should do this more often. Please don’t take it personally if I didn’t mention you, I will do this again! You definitely deserve my thanks!!

~ Filed Under: Hannah's Fight, LMH Foundation

Guess who is sitting!!

27 Feb by Carrie

She has finally figured out how to sit by herself! She has been able to do this for a few minutes at a time now. This is so awesome!!! She’s figuring out how to compensate with her enlarged abdomen and torticollis (you’ll notice the right head tilt). Best of all, she is ON TRACK for this milestone!

~ Filed Under: Hannah's Fight

Guess who is sitting!!

27 Feb by Carrie

She has finally figured out how to sit by herself! She has been able to do this for a few minutes at a time now. This is so awesome!!! She’s figuring out how to compensate with her enlarged abdomen and torticollis (you’ll notice the right head tilt). Best of all, she is ON TRACK for this milestone!

~ Filed Under: Hannah's Fight

Lots of Questions, Lots of Answers

27 Feb by Carrie

I can’t believe Hannah’s video has been online for less than 48 hours, and it has already been viewed almost 1000 times.  That is phenomenal!  Thank you so much to those of you who have forwarded and shared our story. 

I have been overwhelmed with emails and facebook messages during the past two days, and I want to apologize for not being able to get them all personally answered…yet.  I’m working on it.  So please don’t feel that if you sent an email that I’m ignoring you, I just haven’t had a chance yet (especially since Little Girl A was home today from school, and I make it a point not to do Hannah stuff while the older kids are home).

I’ve received a lot of questions in these emails, and I thought I would answer some of them here (since more than one person asked some of these questions).

1.  When will you know if it is type 2 or type 3?  If we are lucky, we should get the DNA analysis back in mid-March, which will give us the gene sequence that can be compared to the Gaucher Registry to see if another person had this DNA mutation and what their prognosis/outcome was.  Unfortunately, Hannah may have a mutation that hasn’t been seen before (which wouldn’t surprise us being that her presentation is so unusual).  If that is the case, then we can do another skin biopsy and try an experimental procedure where they determine if a certain type of abnormality is present (type 2 has the abnormality, type 3 does not).  If that doesn’t work, we may never know…

2.  I can’t afford to donate money, but I want to help.  What can I do?   Money isn’t the only thing we need.  Just sharing Hannah’s story and video with your family, friends, coworkers, etc., is a huge help.  Networking is HUGE in an effort like this, as we don’t have the budget to “advertise” or have a “celebrity” to front us.  Hey, if you know a celebrity that is willing to do a quick PSA-type of video with us, please let me know!  But spreading our story is so important — the person you connect us with may be the key to helping us save Hannah’s life!  Also, if you have the time and really want to get involved, we could use the help in looking for media contacts and other outlets to get Hannah’s story out there.

3.  “Amazing mom,” “strong mom,” etc.  Thank you for the support on that.  But the truth is, if this was your child, you would probably do exactly what I am doing. 

4.  What keeps you motivated to do this for 7 months?  I don’t want my daughter to die.  I also don’t want my two older children to have to watch her slowly deteriorate and die.   We don’t have a choice but to do this.

5.  Are you going to sell the bracelets for donations?  Yes we are.  Just working the details out!  We are also working on fundraising with restaurant cards and magazines online. 

6.  Donations to cover our expenses.  Yes, I can’t work now, and yes, we do have an increase in medical expenses.  But for now, we are really focused on getting “the mouse.”

7.  Suggestion to get company “sponsorships” for Hannah (donations in leiu of advertising space).  Thanks for the suggestion.  I’ll look into this!

8.  Why we took off Google ads.   Because it only brought in a couple of dollars a week.  A few sites felt uncomfortable sharing Hannah’s website since we had “advertising,” so we felt it was MUCH more beneficial for us to have someone share our story than raise a couple dollars a week.

9.  Why doesn’t the Cerezyme work on the brain?  Cerezyme only works on the physical symptoms (bone crises, enlarged spleen, enlarged liver, low platelets, etc.).  It can’t pass through the blood-brain barrier, which is why it has no effect on the neurological symptoms.

10.  When is the Hope for Hannah walk?  Don’t have a date yet!   A few wonderful moms are coming over next Thursday night to brainstorm.  Once we have a date set, I’ll let everyone know!

11.  Expanding Hannah’s website to make it easier to keep up with different things.  Yes, I know.  I have so many things I want to share, report, etc., and I need a better way than what I have now.  I’m playing with the wordpress Magazine themes, and I’m getting stuck.  So if anyone can help me with this, please, please!

12.  Besides money and awareness, what specifically do I need right now? 

  • WordPress Guru to help set up a magazine style format  Thank you Brian Gardner, StudioPress,  for your most appreciated theme donation!
  • Graphic designer to create just a few buttons , header, and a couple of other little things for me.  I stink at graphics!!

13.  Are you taking care of yourself?  Honestly, not very well.  I admit it.  But I’m slowly getting into a new routine and part of that will include my wellness too.  Have to take care of my family, you know how it is!

~ Filed Under: Hannah's Fight

Hannah’s official awareness video

25 Feb by Carrie

This really was the hardest thing for me to do since we knew Hannah was sick. At first it felt like I kept stabbing myself in the heart intentionally, but after a while, I just became numb to it. Once it was done, and I saw the final version on youtube, I just lost it.

Please, please, please share this video with everyone you can — friends, family, coworkers, blogs, twitter, message boards, lists, local media, etc. It only takes a few minutes of your time, but it can make such a huge difference! The person who holds the key to helping us save Hannah’s life might be the person that you (or someone you share Hannah’s story with) share this with.

Also, see the Share This below? Please share this link with some of those services such as StumbleThis, Reddit, Technorati, Kirtsy, Digg (a big one), Buzz up, myspace, facebook, etc.

~ Filed Under: Hannah's Fight
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