A blog about the grief after losing a child to Niemann Pick, Type C, a rare disease, and how I'm moving forward with my life.

Saturday, August 25, 2012

Rare Diseases

Rare diseases are just that - rare. I think the official definition is less than 200,000 cases in the USA. Do you know how many that really means? Over 7,000! The searchable list is here: http://rarediseases.info.nih.gov/RareDiseaseList.aspx?PageID=1

In my little area of the world there are 3: Dan had Niemann-Pick; another little girl, Kaitlin, has Batten Disease, also known as late infantile neuronal ceroid lipofuscinosis (LINCL), (see her blog here: http://comingtogetherforkaitlin.blogspot.com/); and a third young woman, Emily, has Cerebro Costo Mandibular Syndrome (see her blog here: http://emilysjourney94.weebly.com/index.html). Each is quite different.

Just on the heels of our trip to Nashville, TN for the Niemann Pick Conference (more in another post), Kaitlin's mom had her 4th annual benefit for her daughter. So we went. And I now proudly wear two rubber bracelets - one for NNPDF and one for NCL.

I met Becky, Kaitlin's mom, about a year ago, shortly after Dan died. I was getting rid of some supplies and posted them on a Facebook group that lets people share unused, excess supplies for the cost of shipping. Becky responded to a post and when we realized that we didn't live to far from each other we decided to actually meet. Since then we have kept in regular contact and totally understand what the other is going through.

I have not met Emily in person yet, but I'm sure I have seen her around town....especially since we live in the same school district. I met Emily through another Facebook group related to those who have rare diseases.

Wednesday, August 15, 2012

Blog Settings

I'm still trying to figure this whole blog thing out, so I've been tinkering....

I think I've got it set so that anyone can comment on posts right on the blog at the end of each entry (you don't need to have an account).  You also can follow the blog on the right side of the page (you have to have an account with google, twitter, yahoo, openid, netlog or AIM) but you can follow it by email too!

For those who speak a language other than English, I've provided the translate option on the right side too!

Thanks for stopping by and reading!

Don't forget to look at the tabs at the top of the page for additional information about other families and how to help.

Monday, August 13, 2012

Medical Research in Children

I read an interesting blog post on Vector, Boston Children's Hospital's science and clinical innovation blog.

Why are children "left out in the cold"?  For the same reasons women were "left out" many, many years ago - when research and clinical trials were focused on men only.

But treatments for kids can't be just "pint-sized" treatments for adults.  Although we all have the same parts, and those parts generally function the same (eyes are eyes, lungs are lungs) kids are not just small adults.

Until the research community realizes that kids have their own unique needs, focused research in children will still be "pie in the sky".

Thursday, August 9, 2012

Dan's Adventures

I've been working on documenting Dan's life in various ways.  This is my most recent creation.  I tried to capture all the fun things we did with him in his short 5 years. It in no way, captures all of our memories and our feelings, but hopefully will serve as a starting point to remember much, much more.  And of course, we did things when we didn't have a camera...such as Chuck E. Cheese and many Firework celebrations.


Turn your favorite photos into a photo book at Shutterfly.com.