This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Today is Pieter, a teenager in the Netherlands.
Friday, February 28, 2014
Rare Disease Month - Day 28
It's February. That means it is time to focus on Rare Diseases. You
can read more about what I wrote about the past 2 years by clicking on
the links to the right.
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Today is Pieter, a teenager in the Netherlands.
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Today is Pieter, a teenager in the Netherlands.
Rare Disease Day - February 28
There are many different days in the year for different causes. February 28 is Rare Disease Day.
World Rare Disease Day is an annual observance held on the last day of February (February 28th or February 29th in a Leap Year) to raise awareness for rare diseases and improve access to treatments and medical representation for individuals with rare and genetic diseases and their families. (source)
Here are 5 facts about rare diseases:
1. According to the U.S. Food and Drug Administration, a rare disease is one that affects fewer than 200,000 Americans at any given time.
2. According to the National Institutes of Health, there are between 6,000 and 7,000 rare diseases affecting from 25 to 30 million Americans.
3. 80% of rare diseases have identified genetic origins and 50% of rare diseases touch children. (source)
4. Patients with rare diseases are frequently misdiagnosed or are undiagnosed. (source)
5. Approximately 50% of rare diseases do not have a disease specific foundation supporting or researching their rare disease (source)
If you see people walking around sporting a denim ribbon, ask them which rare disease they are supporting.
Please take a minute to click on the source links are read a bit more about rare diseases and how you can help spread awareness. To learn more about Niemann Pick Disease, the disease I support, go to the National Niemann Pick Disease Foundation, the Mayo Clinic, and the Parseghian Foundation.
World Rare Disease Day is an annual observance held on the last day of February (February 28th or February 29th in a Leap Year) to raise awareness for rare diseases and improve access to treatments and medical representation for individuals with rare and genetic diseases and their families. (source)
Here are 5 facts about rare diseases:
1. According to the U.S. Food and Drug Administration, a rare disease is one that affects fewer than 200,000 Americans at any given time.
2. According to the National Institutes of Health, there are between 6,000 and 7,000 rare diseases affecting from 25 to 30 million Americans.
3. 80% of rare diseases have identified genetic origins and 50% of rare diseases touch children. (source)
4. Patients with rare diseases are frequently misdiagnosed or are undiagnosed. (source)
5. Approximately 50% of rare diseases do not have a disease specific foundation supporting or researching their rare disease (source)
If you see people walking around sporting a denim ribbon, ask them which rare disease they are supporting.
Please take a minute to click on the source links are read a bit more about rare diseases and how you can help spread awareness. To learn more about Niemann Pick Disease, the disease I support, go to the National Niemann Pick Disease Foundation, the Mayo Clinic, and the Parseghian Foundation.
Thursday, February 27, 2014
Rare Disease Month - Day 27
It's February. That means it is time to focus on Rare Diseases. You
can read more about what I wrote about the past 2 years by clicking on
the links to the right.
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Today is for 3 siblings in Switzerland: Mathias, Alix, and Zita. I had the pleasure of meeting some of the family in Baltimore. You can read an undated story about them here.
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Today is for 3 siblings in Switzerland: Mathias, Alix, and Zita. I had the pleasure of meeting some of the family in Baltimore. You can read an undated story about them here.
Wednesday, February 26, 2014
Rare Disease Month - Day 26
It's February. That means it is time to focus on Rare Diseases. You can read more about what I wrote about the past 2 years by clicking on the links to the right.
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Today is for teenager Lili in Germany. I had the wonderful experience of meeting her mother Sabine in Baltimore in August 2013.
Tuesday, February 25, 2014
Rare Disease Month - Day 25
It's February. That means it is time to focus on Rare Diseases. You
can read more about what I wrote about the past 2 years by clicking on
the links to the right.
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Today is Estefania, from Argentina who is in her mid 20's. I was able to meet both of her parents at the INPDA/NNPDF Conference in Baltimore in August 2013.
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Today is Estefania, from Argentina who is in her mid 20's. I was able to meet both of her parents at the INPDA/NNPDF Conference in Baltimore in August 2013.
Monday, February 24, 2014
Rare Disease Month - Day 24
It's February. That means it is time to focus on Rare Diseases. You can read more about what I wrote about the past 2 years by clicking on the links to the right.
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Today is John in Italy. John is now 10 and they are trying to get approval for an experimental treatment. You can read their story here (in Italian).
5 for Five - Feb 24
So what is 5 For Five? In the short form, it is 5 goals you want to achieve this week. Next week, I will report on my success (or failure). Jenn does a better job of explaining it here.
Here were the goals from last week:
1. Finish the rare disease posts for this month. I only have a few more left and since the end of Feb is this week I know I will get them done.
2. Buy stamps. And yes, I missed getting them before the price went up a few weeks ago. I really need to do this this week. Thanks to my mom for bringing some over to me.
3. Clean out Shelby's outgrown clothes. Nope.
4. Do an online training course. Nope. And it is due on Feb 24.
5. Read 2 newspapers a day. I don't think I did 2 a day, but I did read a bunch.
Okay, so that was not a great week. Can I do better this coming week?
So what are my goals for this week??? I have a day off this week, so hopefully I can do a bunch of these.
1. Clean out Shelby's outgrown clothes.
2. Mail a bunch of things that I need to get out.
3. Read 2 newspapers a day.
4. Do some Elks things.
5. Do some organizing.
Ok, who is with me? Let's keep each other on track to a better year!
Sunday, February 23, 2014
Rare Disease Month - Day 23
It's February. That means it is time to focus on Rare Diseases. You
can read more about what I wrote about the past 2 years by clicking on
the links to the right.
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Today is for Kamryn in Alabama. Kamryn was diagnosed at 4 months, and she is now 2 1/2 years old. Here is some information from her mom Kayla:
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Today is for Kamryn in Alabama. Kamryn was diagnosed at 4 months, and she is now 2 1/2 years old. Here is some information from her mom Kayla:
When Kamryn was first born, she was very sick. Deep down, we knew something wasn't right. We began noticing that her belly seemed quite large. After discussing this with two previous doctors, a third doctor (at her 1 month check up) sent us to Children's in Birmingham. I truly believe that us finding out so early was a God thing. After multiple tests, they narrowed it down to Gaucher's. When that came back negative, they tested for NPD. We are so thankful that our doctors were led in the right direction!You can see more of Kamryn's story in her YouTube video below or read her story from the Children's Inn at the NIH (she is at the bottom of the page).
At 6 months, we visited the NIH for the first time. We have been back 2 times since then. Currently, Kamryn is not showing any neurological symptoms. Her spleen is only slightly enlarged. She is doing great.
Saturday, February 22, 2014
Rare Disease Month - Day 22
It's February. That means it is time to focus on Rare Diseases. You can read more about what I wrote about the past 2 years by clicking on the links to the right.
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Today is JP. JP lives within 15 minutes from me and has recently been diagnosed. JP and his family have been very proactive in working with the medical professionals and making sure he stays as healthy as he can. JP's family has rallied the community around them. He was recently made an honorary police officer. You can see an article and a video here.
Friday, February 21, 2014
Rare Disease Month - Day 21
It's February. That means it is time to focus on Rare Diseases. You
can read more about what I wrote about the past 2 years by clicking on
the links to the right.
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Today is Alberto from Spain. I don't know much about this family, but I wanted to share them.
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Today is Alberto from Spain. I don't know much about this family, but I wanted to share them.
Thursday, February 20, 2014
Rare Disease Month - Day 20
It's February. That means it is time to focus on Rare Diseases. You
can read more about what I wrote about the past 2 years by clicking on
the links to the right.
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Today is Natalia, a 4 year old girl in Spain. Natalia has the Ommaya reservior in her brain to deliver her cyclodextrin. Here is an article (in Spanish) about her mother's fight for rare diseases: http://www.lareferencia.net/2013/03/20/el-congreso-de-los-diputados-muestra-su-apoyo-a-una-nina-murciana-enferma-de-niemman-pick-tipo-c/
Click this link for English
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Today is Natalia, a 4 year old girl in Spain. Natalia has the Ommaya reservior in her brain to deliver her cyclodextrin. Here is an article (in Spanish) about her mother's fight for rare diseases: http://www.lareferencia.net/2013/03/20/el-congreso-de-los-diputados-muestra-su-apoyo-a-una-nina-murciana-enferma-de-niemman-pick-tipo-c/
Click this link for English
Rare Disease Month - Day 19
It's February. That means it is time to focus on Rare Diseases. You
can read more about what I wrote about the past 2 years by clicking on
the links to the right.
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Today is Kaiden - a rare NPC kid among rare NPC diagnoses. Kaiden, now 8, lives in Canada and has all the NPC symptoms. However, they can only find one NPC2 mutation. Less than 5% of the NPC diagnoses are NPC2. As a result, his doctors have taken away his provisional NPC diagnosis.
Kaiden was granted a Make A Wish trip a few years ago and Sharla, his mom, prepared a thank you speech. Here is some of her speech.
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Today is Kaiden - a rare NPC kid among rare NPC diagnoses. Kaiden, now 8, lives in Canada and has all the NPC symptoms. However, they can only find one NPC2 mutation. Less than 5% of the NPC diagnoses are NPC2. As a result, his doctors have taken away his provisional NPC diagnosis.
Kaiden was granted a Make A Wish trip a few years ago and Sharla, his mom, prepared a thank you speech. Here is some of her speech.
Kaiden, our youngest, is 5 and he has a provisional diagnosis of Niemann Pick Type C - 2 with a secondary mitochondrial structural abnormality. This is an inherited disease which causes metabolic problems due to abnormalities within the structure of the DNA: Kaiden is one of only 24 known cases in the world with this disease. Kaiden’s life expectancy is 6 years old however he is attending kindergarten at the present time and continues to amaze us with his progress, in spite of intermittent episodes of illness. We expect him to surpass the usual predictions for life expectancy but we live on borrowed time.
People may think it is sad to live on borrowed time, however what people tend to forget is that we are afforded the luxury of knowing our time is short. Niemann Pick C has been called Childhood Alzheimer’s. We know our Kaiden only has a short childhood so our family must build memories that will last our lifetime and continue to try to keep our little buddy safe, happy and comfortable for as long as we can and we try to make the most out of every moment.
Wednesday, February 19, 2014
Rare Disease Month - Day 18
It's February. That means it is time to focus on Rare Diseases. You
can read more about what I wrote about the past 2 years by clicking on
the links to the right.
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Today is Johnathan in California. His mom Rebecca has spent many hours creating the Global Genes Facebook profile pictures for many of the NPD families the past few years. They are also one of the host families for the 2014 NNPDF conference in San Francisco.
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Today is Johnathan in California. His mom Rebecca has spent many hours creating the Global Genes Facebook profile pictures for many of the NPD families the past few years. They are also one of the host families for the 2014 NNPDF conference in San Francisco.
Rare Disease Month - Day 17
It's February. That means it is time to focus on Rare Diseases. You
can read more about what I wrote about the past 2 years by clicking on
the links to the right.
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Today is Taylor in England. Taylor is currently on Zaveska, the only oral medication that has any small beneficial effect on NPC.
Taylor has an open Facebook group to provide support: Taylors Battle
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Today is Taylor in England. Taylor is currently on Zaveska, the only oral medication that has any small beneficial effect on NPC.
Taylor has an open Facebook group to provide support: Taylors Battle
Tuesday, February 18, 2014
Rare Disease Month - Day 16
It's February. That means it is time to focus on Rare Diseases. You
can read more about what I wrote about the past 2 years by clicking on
the links to the right.
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Today is Nanami in Japan. She has had a rough time recently, including a long hospital stay and some serious medical issues.
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Today is Nanami in Japan. She has had a rough time recently, including a long hospital stay and some serious medical issues.
Rare Disease Month - Day 15
It's February. That means it is time to focus on Rare Diseases. You
can read more about what I wrote about the past 2 years by clicking on
the links to the right.
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Today is Andy. Andy is in his mid-20s and lives in New Hampshire. Andy and his mom came to Dan's fundraiser in 2012. Andy is also part of the clinical trial at NIH.
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Today is Andy. Andy is in his mid-20s and lives in New Hampshire. Andy and his mom came to Dan's fundraiser in 2012. Andy is also part of the clinical trial at NIH.
Monday, February 17, 2014
5 for Five - Feb 17
So what is 5 For Five? In the short form, it is 5 goals you want to achieve this week. Next week, I will report on my success (or failure). Jenn does a better job of explaining it here.
Here were the goals from last week:
1. Finish the July newspapers. Done! And August is started!
2. Buy stamps. And yes, I missed getting them before the price went up a few weeks ago. Nope. The post office is too far from the office and I get home too late to stop there on my way home. I know there are other places that sell them, but I forget to stop there too. Really need to do this.
3. Do one productive thing each night after work. I think I did this, but I really don't remember!
4. Make some phone calls that need to be made. I made some, but need to make more.
5. Do the taxes. Done! And filed!
Okay, so that was a so-so week. I got the important item done - the taxes, so I guess I can call it a success!
So what are my goals for this week???
1. Finish the rare disease posts for this month.
2. Buy stamps. And yes, I missed getting them before the price went up a few weeks ago. I really need to do this this week.
3. Clean out Shelby's outgrown clothes.
4. Do an online training course.
5. Read 2 newspapers a day.
Ok, who is with me? Let's keep each other on track to a better year!
Rare Disease Month - Day 14
It's February. That means it is time to focus on Rare Diseases. You
can read more about what I wrote about the past 2 years by clicking on
the links to the right.
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Today's focus is on Julia from Florida. Julia was diagnosed in October 2011 at the age of 11. She has been part of both NIH clinical trials, including having brain surgery twice. Her story can be followed here: http://www.juliasjourney.net/index.html
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Today's focus is on Julia from Florida. Julia was diagnosed in October 2011 at the age of 11. She has been part of both NIH clinical trials, including having brain surgery twice. Her story can be followed here: http://www.juliasjourney.net/index.html
Friday, February 14, 2014
Rare Disease Month - Day 13
It's February. That means it is time to focus on Rare Diseases. You
can read more about what I wrote about the past 2 years by clicking on
the links to the right.
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Today focuses on two brothers, Matt and Tim, in Australia. A newspaper article from last year explains it all: http://www.mmg.com.au/local-news/benalla/bash-to-help-lads-1.30415
The Australian NPC Foundation is frantically trying to raise funds to keep mice alive and research moving forward. If you can contribute in any way, even if it is just sharing this post, it would be appreciated. More info on the research they are trying to fund is here: http://npcd.org.au/
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Today focuses on two brothers, Matt and Tim, in Australia. A newspaper article from last year explains it all: http://www.mmg.com.au/local-news/benalla/bash-to-help-lads-1.30415
The Australian NPC Foundation is frantically trying to raise funds to keep mice alive and research moving forward. If you can contribute in any way, even if it is just sharing this post, it would be appreciated. More info on the research they are trying to fund is here: http://npcd.org.au/
Wednesday, February 12, 2014
Rare Disease Month - Day 12
It's February. That means it is time to focus on Rare Diseases. You
can read more about what I wrote about the past 2 years by clicking on
the links to the right.
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Today is Macks, a cute little 2 year boy in Connecticut. I met little Macks once and he reminded me so much of Dan. He is a little ball of energy and is quite a little character.
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Today is Macks, a cute little 2 year boy in Connecticut. I met little Macks once and he reminded me so much of Dan. He is a little ball of energy and is quite a little character.
Rare Disease Month - Day 11
It's February. That means it is time to focus on Rare Diseases. You
can read more about what I wrote about the past 2 years by clicking on
the links to the right.
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Today is for Chase, a little boy I have had the pleasure of spending a bit of time with. As mom Shannon says on her facebook page:
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Today is for Chase, a little boy I have had the pleasure of spending a bit of time with. As mom Shannon says on her facebook page:
My son Chase has a fatal and progressive lysosomal storage disease known as Niemann Pick Type C. There is no FDA approved treatment for this disease. He is still with us because he has a compassionate use investigational drug that he is receiving outside of a formal trial. It is fully regulated by the FDA. Because we have hope we take every opportunity we can to bring attention to this disease. Funding = Options and there are many right now. You can learn more about this disease by visiting www.chasethecure.net
Tuesday, February 11, 2014
Rare Disease Month - Day 10
It's February. That means it is time to focus on Rare Diseases. You
can read more about what I wrote about the past 2 years by clicking on
the links to the right.
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Today I am highlighting Ty in the state of Washington. Ty is a high school junior who loves "The Lord of the Rings". An article about Ty's wish of seeing The Hobbit is here: http://www.nnpdf.org/documents/Jan2013VikingVanguard-TysUnexpectedJourney_000.pdf
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Today I am highlighting Ty in the state of Washington. Ty is a high school junior who loves "The Lord of the Rings". An article about Ty's wish of seeing The Hobbit is here: http://www.nnpdf.org/documents/Jan2013VikingVanguard-TysUnexpectedJourney_000.pdf
Monday, February 10, 2014
5 for Five - Feb 10
So what is 5 For Five? In the short form, it is 5 goals you want to achieve this week. Next week, I will report on my success (or failure). Jenn does a better job of explaining it here.
Here were the goals from last week:
1. Finish the July newspapers. Nope. But with the crazy week I had, this became a low priority.
2. Continue the Rare Disease Month postings. Done! They may not be posted the same day, but I am keeping up with them and will have 28 before the month is done.
3. Get my coupons organized again. Yes! Got through my extras and threw out the expired one and cleaned out my coupon book too. Now to get into a routine of a little each night or week to make it easier.
4. Take it easy to get rid of this cold that I picked up traveling. Done. It didn't seem to be as much of a cold as the traveling sickness of being in dry airplanes and different locations and hotels. But no matter, it was gone on Wednesday.
5. Print Shelby pictures for the frames I have. Nope. Didn't even think about this goal this week.
Okay, so that was a so-so week. But I can't win them all! I'll just try better this week.
So what are my goals for this week???
1. Finish the July newspapers.
2. Buy stamps. And yes, I missed getting them before the price went up a few weeks ago.
3. Do one productive thing each night after work.
4. Make some phone calls that need to be made.
5. Do the taxes.
Ok, who is with me? Let's keep each other on track to a better year!
Rare Disease Month - Day 9
It's February. That means it is time to focus on Rare Diseases. You can read more about what I wrote about the past 2 years by clicking on the links to the right.
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Today is about Mael in Switzerland. According to his mom, when he was diagnosed 4 years ago, he was the only child with NPC in Switzerland. There were several adults with NPC, but no children. Since then, there have been more kids diagnosed with NPC in Switzerland.
Mom Claudia told me that connecting with the worldwide community via social media and email has helped alot and made her feel not as lonely.
Mael also has a website: http://www.maelslife.com/index.php/en/ and a foundation: http://www.maelslife.com/index.php/en/donate-help/mael-s-life-foundation
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Today is about Mael in Switzerland. According to his mom, when he was diagnosed 4 years ago, he was the only child with NPC in Switzerland. There were several adults with NPC, but no children. Since then, there have been more kids diagnosed with NPC in Switzerland.
Mom Claudia told me that connecting with the worldwide community via social media and email has helped alot and made her feel not as lonely.
Mael also has a website: http://www.maelslife.com/index.php/en/ and a foundation: http://www.maelslife.com/index.php/en/donate-help/mael-s-life-foundation
Sunday, February 9, 2014
Rare Disease Month - Day 8
It's February. That means it is time to focus on Rare Diseases. You
can read more about what I wrote about the past 2 years by clicking on
the links to the right.
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Today focuses on Holly, from the United Kingdom. Hollie is one of about 50 in the United Kingdom with NPC. She has an absolutely wonderful website: http://www.hopeforhollie.co.uk/ and every year host a summer ball.
More about Hollie can be found here: http://www.hopeforhollie.co.uk/what-is-np-c/hollie-s-np-c-journey-a-mum-s-perspective/
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Today focuses on Holly, from the United Kingdom. Hollie is one of about 50 in the United Kingdom with NPC. She has an absolutely wonderful website: http://www.hopeforhollie.co.uk/ and every year host a summer ball.
More about Hollie can be found here: http://www.hopeforhollie.co.uk/what-is-np-c/hollie-s-np-c-journey-a-mum-s-perspective/
Friday, February 7, 2014
Rare Disease Month - Day 7
It's February. That means it is time to focus on Rare Diseases. You can read more about what I wrote about the past 2 years by clicking on the links to the right.
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Today is Mindy in Michigan. We had the pleasure of spending some time with Mindy and her family in Baltimore this past summer. Mindy has such a wonderful smile and her family absolutely tries to make the world a better place for her.
Here is a newspaper article from a few years ago: http://www.mlive.com/sports/jackson/index.ssf/2012/09/jackson-area_bowling_column_fa.html
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Today is Mindy in Michigan. We had the pleasure of spending some time with Mindy and her family in Baltimore this past summer. Mindy has such a wonderful smile and her family absolutely tries to make the world a better place for her.
Here is a newspaper article from a few years ago: http://www.mlive.com/sports/jackson/index.ssf/2012/09/jackson-area_bowling_column_fa.html
Rare Disease Month - Day 6
It's February. That means it is time to focus on Rare Diseases. You can read more about what I wrote about the past 2 years by clicking on the links to the right.
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Today I am focusing on a Isaiah, a 10 year old boy. Isaiah has had some ups and downs lately and is struggling with seizures and eating. His mom runs a hot dog stand in the summer to help cover costs that insurance won't cover.
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Today I am focusing on a Isaiah, a 10 year old boy. Isaiah has had some ups and downs lately and is struggling with seizures and eating. His mom runs a hot dog stand in the summer to help cover costs that insurance won't cover.
There is a closed Facebook group where you can share love and support. The group was also created to provide a way for others to send him some love by sending him postcards. You can mail postcards to: Isaiah Adkins, 2216 Highlawn Ave, Ashland, KY 41101. The only condition is that you do NOT mention his diagnosis. You can see his wall here. Can we help him fill it up some more?
Thursday, February 6, 2014
Rare Disease Month - Day 5
It's February. That means it is time to focus on Rare Diseases. You
can read more about what I wrote about the past 2 years by clicking on
the links to the right.
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
The NNPDF posted this on their newsline:
Stanley & Jeffrey Gottlieb Scholarship Award
Chandler Smith, sister to Keaton (NPC), Braden (NPC ~
10/3/1996 - 10/31/2006) and Riley (NPC ~
11/11/1998 - 01/19/2014), recently wrote an essay about how living with
three Niemann-Pick Type C siblings has not only changed her life, but
her outlook on it.
This essay was written for submission to the Stanley & Jeffrey Gottlieb Scholarship, and was awarded to Chandler, who kindly allowed us to share her essay with you:
Anyone who reads it immediately can see why it was chosen. It shows that love is ever enduring, and that even when we lose, hurt and fight, what matters most is always with us, even if it can only live on in our hearts. That sometimes loss isn't the end, but can also be a beginning.
With the recent and unexpected of loss of her little sister Riley, this essay takes on a much more personal meaning for the reader and proves to be a wonderful way to honor all of Chandler's siblings.
The Gottlieb Scholarship Fund was established in 2005 to share the beautiful and meaningful ways siblings incorporate their sibling experience into their lives and careers. We congratulate Chandler on her essay and wish her the very best in connecting her dots moving forward.
For more information on the Gottlieb Scholarship Fund, visit: Here
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
The NNPDF posted this on their newsline:
Stanley & Jeffrey Gottlieb Scholarship Award
"Connecting the Dots"
An essay by Chandler Smith
This essay was written for submission to the Stanley & Jeffrey Gottlieb Scholarship, and was awarded to Chandler, who kindly allowed us to share her essay with you:
Anyone who reads it immediately can see why it was chosen. It shows that love is ever enduring, and that even when we lose, hurt and fight, what matters most is always with us, even if it can only live on in our hearts. That sometimes loss isn't the end, but can also be a beginning.
With the recent and unexpected of loss of her little sister Riley, this essay takes on a much more personal meaning for the reader and proves to be a wonderful way to honor all of Chandler's siblings.
The Gottlieb Scholarship Fund was established in 2005 to share the beautiful and meaningful ways siblings incorporate their sibling experience into their lives and careers. We congratulate Chandler on her essay and wish her the very best in connecting her dots moving forward.
For more information on the Gottlieb Scholarship Fund, visit: Here
Wednesday, February 5, 2014
Rare Disease Month - Day 4
It's February. That means it is time to focus on Rare Diseases. You
can read more about what I wrote about the past 2 years by clicking on
the links to the right.
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Siblings Cody and Kayla have been accepted into the NIH trial of cyclodextrin. They are blogging about their experiences in the trial here: http://www.codyandkaylaontheroadtoacure.net/ Their first trip is documented in the "On The Road Journal". Their second trip is in the middle of February.
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Siblings Cody and Kayla have been accepted into the NIH trial of cyclodextrin. They are blogging about their experiences in the trial here: http://www.codyandkaylaontheroadtoacure.net/ Their first trip is documented in the "On The Road Journal". Their second trip is in the middle of February.
Tuesday, February 4, 2014
Rare Disease Month - Day 3
It's February. That means it is time to focus on Rare Diseases. You can read more about what I wrote about the past 2 years by clicking on the links to the right.
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Today I am focusing in a tough little guy named Ed. Ed is in Australia and doesn't just have an NPC diagnosis. He also has a leukemia diagnosis. At age 3 it seems like he has spent more time in the hospital than out. You can read more about Ed and his adventures with ALL (acute lymphoblastic leukemia) and NPC here: http://cure4edsharp.wordpress.com/
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
Today I am focusing in a tough little guy named Ed. Ed is in Australia and doesn't just have an NPC diagnosis. He also has a leukemia diagnosis. At age 3 it seems like he has spent more time in the hospital than out. You can read more about Ed and his adventures with ALL (acute lymphoblastic leukemia) and NPC here: http://cure4edsharp.wordpress.com/
5 For Five - Feb 3
So what is 5 For Five? In the short form, it is 5 goals you want to achieve this week. Next week, I will report on my success (or failure). Jenn does a better job of explaining it here.
Here were the goals from last week:
1. Finish putting Shelby's clothes away. Done!
2. Read 2 newspapers a day. I'm cheating on this one. I read 2 this morning before I posted this...shh... I rocked this one - even when I was out of town.
3. Post 3 blog entries this week. I love writing, it's just finding the time some days. Done. I wrote about my One Word for the year, pictures from several thousand feet in the air, and the first day of Rare Disease Month
4. Create several Shutterfly photobooks. I have coupon codes for 2 or 3 books that expire on 1/31/14. So I better make and order them! Somehow I had time in Milwaukee and created 2 that I had free coupons for.
5. Get my NNPDF paperwork organized. I was organized for the meeting, but still not organized around the house.
I think that was a 5 for 5 week! Can I repeat it???
So what are my goals for this week???
1. Finish the July newspapers.
2. Continue the Rare Disease Month postings.
3. Get my coupons organized again.
4. Take it easy to get rid of this cold that I picked up traveling.
5. Print Shelby pictures for the frames I have.
Ok, who is with me? Let's keep each other on track to a better year!
Monday, February 3, 2014
Rare Disease Month - Day 2
It's February. That means it is time to focus on Rare Diseases. You can read more about what I wrote about the past 2 years by clicking on the links to the right.
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
This entry focuses on 2 siblings: Zachary and Ashlyn. This family lives about an hour from me. I have been blessed to meet Ashlyn, her sister, her mom and her grandma.
But I want to talk about Zachary first. This cutie was only here for 3 months when he died of liver failure. He was finally diagnosed with NPC when Ashlyn was born a few years later.
Little sister Ashlyn has had a difficult road. She was first diagnosed with NPA and then finally diagnosed with NPC. She has battled seizures and severe medical interventions and complications.
You can read more about Zachary, Ashlyn, and healthy baby sister Arieanna on Facebook at Love for Ashlyn and at Go Fund Me
Saturday, February 1, 2014
Rare Disease Month - Day 1
It's February. That means it is time to focus on Rare Diseases. You can read more about what I wrote about the past 2 years by clicking on the links to the right.
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
The first child is Katha. She is in Canada. She had a similar journey to Dan, including the long road to diagnosis. Katha is about 9 now and is still doing very well. Her mom has started a blog to record the symptoms and progression so others will know. Every child progresses differently.
You can read more about Katha here: http://ourunwantedjourney.blogspot.ca/
This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.
The first child is Katha. She is in Canada. She had a similar journey to Dan, including the long road to diagnosis. Katha is about 9 now and is still doing very well. Her mom has started a blog to record the symptoms and progression so others will know. Every child progresses differently.
You can read more about Katha here: http://ourunwantedjourney.blogspot.ca/
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