Looking back

I just looked back at some of my first blog entries.  Much has changed in the year or so since I started writing.  

In some ways I want to go back to those days.  In other ways I don't.  

Shortly we will be on the road again for this year's Niemann Pick conference. A time to learn a lot, hug many, make some new friends and say goodbye to those we lost since last year.

So much has changed yet so much has stayed the same.  The research continues but a clinical trial has started for a treatment.  More families are interacting on social media, sharing experiences and information. But we are still losing kids. And doctors are still not diagnosing it timely to help them enjoy their lives.

I do what I can.  Educating people who ask about by Persevere wristband.  Sharing our experience with Dan with other families. Trying to provide resources for other families. 

But it is an up hill battle when some in the medical community don't trust parents or patients to know information and be right.  We were incredibly lucky, in that Dan's pediatrician listened to our concerns and our wishes and helped us as much as he could.  But I see other families without that support. 

Especially in rare diseases, the patients or parents or primary caregivers become the experts.  Just because we don't have a medical degree doesn't mean we don't understand the medical world and test results and medical terminology. 

So where am I going with this? I don't really know.  I guess in some ways life is the same since I started writing, and in others it is different.  But life does go on, no matter what.

Photos Age 12-18 months

Here is a Shutterfly book I created reflecting Dan's life between the age of 12 months to 18 months.

Click here to view this photo book larger

Create your own personalized photo books at Shutterfly.com.

5 for Five - Week 29

5 for Five with Jenn and Jessica is taking a few weeks off.  But I wanted to stay accountable, so here are my goals for this week and how I did last week.

Last week's goals:

1. Read newspapers until March 15th.

       I got to March 9th (that was last weeks goal!!)

2. Get hubby from the airport.  I know I will get this one done!

       Flight was scheduled to land at 1am on Friday morning.  Delayed until about 1:30am, then get luggage...got home around 2:30am and then hubby was wide awake and talkative.

3. Keep busy while hubby is out of town.

        Definitely did that!

4.  Write a few blog posts.

         Wrote 2, one was an angel post.

5.  Do something for me this week.

          I went to lunch with a girlfriend!

4 out of 5 is really good!  But I made it an easy week.

Now for this week's goals:

1. Read until March 15th (let's try this again)

2. Do something for me.

3. Write a few blog posts besides this one.

4. Start getting organized for the Niemann-Pick conference

5. Keep up with the clutter.

Let's see how it goes!

Summertime, Summertime

It is definitely the middle of the summer.  Temperatures have been in the high 80's or low 90's for the past few weeks.

I have air conditioning at home, in the bus, and at work.  I also have it in the car, but for the 15 minute drive to the bus, it isn't worth it.

So I'm not out in the heat much so it takes it's toll when I am.  The cat and dog don't even want to go out when it is this hot!  The dog will go out, do what she needs to do, and then come right back in.  The cat wants to go out at 9 or 10 at night because it has finally cooled off.  Thankfully, she goes out on a long leash, so I don't have to chase after her all night.

But I'm not complaining.  It's part of the seasons where I live and we haven't had a hot summer in quite a few years. 

Another NPC Angel

It is with tremendous sadness that we relay the news that our precious daughter, Dana peacefully passed away on Friday evening, July 12, 2013. We are so grateful to all those whose prayers and good wishes continue to bless Dana and give our family strength.

The wake will be held from 4:00PM-8:00PM on Monday, July 15th at the Leo P. Gallagher & Son Funeral Home, 31 Arch Street, Greenwich, CT.

A mass of Christian burial will be celebrated at 10:30AM on Tuesday, July 16, 2013 at St. Catherine of Siena Church, 4 Riverside Avenue, Riverside, CT.

It is the family's wish that, in lieu of flowers, a memorial donation be offered to the family's medical research foundation, Dana's Angels Research Trust, 15 East Putnam Avenue, #117, Greenwich, CT 06830 or online at www.DanasAngels.org.

More information is available at Leo P. Gallagher & Son's web site.
http://obits.dignitymemorial.com/dignity-memorial/obituary.aspx?n=Dana-Marella&lc=4879&pid=165849667&mid=5600343&locale=en_US

5 for Five - Week 28

It's a new week.  That means a new installment of 5 for Five with Jenn and Jessica!  See the blogs participating by clicking on the button below or see my blog hop page.

Last week's goals:

1. Read until March 10th.

        OK, so I got to March 6th.

2. Help hubby pack for his trip.

         Done!  Hubby is off.

3. Keep decluttering.

          Did some, but there is always more.

4.  Write a few blog posts.

           Nope.

5.  Do something for me this week.

            I kicked my feet up and relaxed a bit.

I got done what I needed to do - help hubby pack.  With hubby not feeling well (I think I shared what I had), it was a slow week for both of us.

Now for this week's goals:

1. Read newspapers until March 15th.

2. Get hubby from the airport.  I know I will get this one done!

3. Keep busy while hubby is out of town.

4.  Write a few blog posts.

5.  Do something for me this week.

I think I need to come up with some better goals soon......

5 for Five - Week 27

It's a new week.  That means a new installment of 5 for Five with Jenn and Jessica!  See the blogs participating by clicking on the button below or see my blog hop page.

Last week's goals:

1. Finish reading February newspapers.

        Done!

2. Call cable.

        Nope...

3. Write at least 2 more blog posts this week.

         I wrote one, but I really didn't even write that one.

4. Finish decluttering.

         Ok, this is never done.  But I tackled some of it again.

5. Watch fireworks.  (I had to add something fun!)

          Yup!

Not a great week, but it was hot, muggy, and stormy.

Now for this week's goals:

1. Read until March 10th.

2. Help hubby pack for his trip.

3. Keep decluttering.

4.  Write a few blog posts.

5.  Do something for me this week.

Let's see how productive I can be this week!

Understanding Rare Disease Registries Webinar

Global Genes | RARE Project and a host of partners are proud to continue our RARE Webinar Series, a series of educational webcasts this year on relevant and timely topics that should be of interest to the RARE community.   

Our upcoming webinar will focus on Understanding Rare Disease Registries and will feature panelists coming at this topic from a different angle.     

Understanding Rare Disease Registries:   

Gain a clear understanding of design, implementation, and resource considerations that are the foundations of a successful registry in this two-part webinar series.

 

Part 1, July 31, 2013
11:00 am Pacific Time 

Register today - space is limited!   Part one of this series will cover the different types of registries and features of a robust patient registry, as well as options currently available for building a new registry or enhancing an existing one. 

The expert panelists will discuss resources for questionnaire design, collecting natural history information, considerations for drug development and the FDA, and informed consent and data sharing. 

Panelists for Part 1 include:  Dr. Steve Groft, Director of the Office of Rare Diseases (ORD) Dr. Marshall Summar, Division Chief of Center for Genetic Medicine Research (CGMR) Moderator:  Shira Kramer, President, GlobalEpi Research 

I would encourage you to register and join the discussion.  I would also ask that you send this email along to your community and rare friends that might also be interested in the topic. 

Special thank you to our content partner, GlobalEpi Research, for their help in coordinating this important discussion.

5 for Five - Week 26 (Halfway through the year)

It's a new week.  That means a new installment of 5 for Five with Jenn and Jessica!  See the blogs participating by clicking on the button below or see my blog hop page.

This was a really bad week but it's tough for me to do much when I don't feel good.

Last week's goals:
1. Read newspapers to Feb 20.
        Read through part of Feb 17.  Not too bad.
2. Call cable to reduce that bill since we don't watch tv that much.
         Nope.  Put that on the list again for this week.
3. Clean up some of the clutter that has accumulated again.
         Done!
4. Tie up the loose ends of projects at work.
         Got most of them tied up.
5. Tie up the loose ends at the Elks and the NNPDF.
          Got most of these tied up too!

Now that was a fairly good week!

Now for this week's goals:

1. Finish reading February newspapers.

2. Call cable.

3. Write at least 2 more blog posts this week.

4. Finish decluttering.

5. Watch fireworks.  (I had to add something fun!)

With a couple of days off this week, I should be able to accomplish these.