Lucas is running in the Cooper River Bridge 10K for the second time. He wants to beat his time from last year and finish in under 50 minutes.
He also wants to continue raising money for LuMind RDS and support Down syndrome research.
Last year he raised almost $700 so this year his goal is to hit $800.
All donations will be matched 3:1 (!!!) through March 21 - World Down Syndrome Day. A $25 donation will turn in to $100 donation.
Will you please consider supporting Lucas with a donation? He will be so appreciative!
Thank you!
Cooper River Bridge Run 10K on Crowdrise
Showing posts with label research. Show all posts
Showing posts with label research. Show all posts
Monday, March 19, 2018
Monday, October 30, 2017
Human Trisome Project
The Human Trisome Project is a ground-breaking research initiative into Down syndrome and researching the medical complexities that can accompany having an extra 21st chromosome.
I first heard about the vision for this project at a Global Down Syndrome Foundation medical round table discussion at the NDSC Convention a couple years ago - exciting to see it's up and running now!
The mission of this project is to "...significantly advance our understanding of several major medical conditions and human biology in general, enabling the developmental of novel diagnostic and therapeutic tools to serve not only individuals with Down syndrome, but also the billions worldwide who experience conditions affected by trisomy 21."
This research will be the larges and most comprehensive of its kind helping to answer the questions of why people with Down syndrome are predisposed to diseases like Alzheimer but seem to be protected from some kinds of cancer.
They are currently enrolling anyone between the ages of 6 months to 89 years.
They are enrolling:
- people with Down syndrome
- people who have a family member with Down syndrome
- healthy people who don't have Down syndrome
Basically anybody and everybody can participate in this important research project.
Click here for more information and click here to get involved.
I first heard about the vision for this project at a Global Down Syndrome Foundation medical round table discussion at the NDSC Convention a couple years ago - exciting to see it's up and running now!
The mission of this project is to "...significantly advance our understanding of several major medical conditions and human biology in general, enabling the developmental of novel diagnostic and therapeutic tools to serve not only individuals with Down syndrome, but also the billions worldwide who experience conditions affected by trisomy 21."
This research will be the larges and most comprehensive of its kind helping to answer the questions of why people with Down syndrome are predisposed to diseases like Alzheimer but seem to be protected from some kinds of cancer.
They are currently enrolling anyone between the ages of 6 months to 89 years.
They are enrolling:
- people with Down syndrome
- people who have a family member with Down syndrome
- healthy people who don't have Down syndrome
Basically anybody and everybody can participate in this important research project.
Click here for more information and click here to get involved.
Wednesday, October 25, 2017
Medical Research in Down Syndrome
Down syndrome continues to be the most common genetic disorder and the least funded. There is so much to learn about the connections to the 21st chromosome and research is so important.
It's important not just to the individuals with Down syndrome and their families - but it is important in the general population as well. There is a huge connection with Down syndrome and Alzheimer and potential cures for Alzheimer can help the general population. There is also interest in researching in why people with Down syndrome are less likely to get certain cancers - like breast cancer - or more likely to be diagnosed with leukemia, but have a higher rate of survival.
Frank Stephens, a self-advocate, testified on Capital Hill regarding the importance of funding for Down syndrome research. It's important for his voice to be heard.
As he states, people with Down syndrome are "...a medical gift to society, a blueprint for research into Alzheimer, cancer, and immune system disorders."
You can also watch the testimony of Michelle Sie Whitten, Co-Founder, President, and CEO of the Global Down Syndrome Foundation.
What can you do as families? Have you registered with DS-Connect: The Down Syndrome Registry? You can connect with researchers and health providers and possibly participate in certain clinical studies.
It's important not just to the individuals with Down syndrome and their families - but it is important in the general population as well. There is a huge connection with Down syndrome and Alzheimer and potential cures for Alzheimer can help the general population. There is also interest in researching in why people with Down syndrome are less likely to get certain cancers - like breast cancer - or more likely to be diagnosed with leukemia, but have a higher rate of survival.
Frank Stephens, a self-advocate, testified on Capital Hill regarding the importance of funding for Down syndrome research. It's important for his voice to be heard.
As he states, people with Down syndrome are "...a medical gift to society, a blueprint for research into Alzheimer, cancer, and immune system disorders."
You can also watch the testimony of Michelle Sie Whitten, Co-Founder, President, and CEO of the Global Down Syndrome Foundation.
What can you do as families? Have you registered with DS-Connect: The Down Syndrome Registry? You can connect with researchers and health providers and possibly participate in certain clinical studies.
Friday, October 06, 2017
Survey for Military "Brats" and Civilians
Another survey opportunity, but this one focusing on military brats!
The University of Minnesota is looking for respondents who are/were military brats (having a parent in the active duty military for at least 8 years before turning 18) and those who are not military brats.
The objective is to compare overall well-being between military children (now adults) and adults who were not raised in the military. Researcher is looking to see if there is a significant difference in overall well-being between the two groups.
The University of Minnesota is looking for respondents who are/were military brats (having a parent in the active duty military for at least 8 years before turning 18) and those who are not military brats.
The objective is to compare overall well-being between military children (now adults) and adults who were not raised in the military. Researcher is looking to see if there is a significant difference in overall well-being between the two groups.
Wednesday, October 04, 2017
Survey for DS Organization Leaders
The University of Kentucky is looking for leaders from Down syndrome organizations to take a survey on what DS organizations are observing since non-invasive prenatal screening entered the market; and what strategies may be helping to improve support and information for families receiving a prenatal diagnosis.
Tuesday, March 21, 2017
Not Special Needs and His First 10K
Today is World Down Syndrome Day - March 21st because people with Down syndrome have 3 copies of their 21st chromosome.
The past few years the CoorDown organization from Italy has produced some great PSAs for WDSD, and the one for this year doesn't disappoint.
It's about describing people with disabilities as having "special needs" - and although I have, and do, use that description, I haven't always felt comfortable with it. There's a nagging feeling in the back of my head when I say "special needs" ... which I blogged about 5 years ago in "That Word Special."
I was glad to see CoorDown put a video out that mirrors my thoughts: Not Special Needs, Human Needs. Kayla doesn't have special needs - she has human needs.
And another note on World Down Syndrome Day - as in years past, all donations made today to LuMind RDS will be matched 3:1. How great is that? A $25 donation will be matched with $75 turning that donation into $100.
In more news - Lucas is following in Joe's running shoes. He's running his first 10K in the Cooper River Bridge Run on April 1st. And just like Joe, Lucas is representing LuMind and raising money for Down syndrome research. If you're able to support him in reaching his goal he would really appreciate it! Any donation made today through his Crowdrise page will also be matched 3:1 as the donation goes to LuMind. Thanks for any support!
The past few years the CoorDown organization from Italy has produced some great PSAs for WDSD, and the one for this year doesn't disappoint.
It's about describing people with disabilities as having "special needs" - and although I have, and do, use that description, I haven't always felt comfortable with it. There's a nagging feeling in the back of my head when I say "special needs" ... which I blogged about 5 years ago in "That Word Special."
I was glad to see CoorDown put a video out that mirrors my thoughts: Not Special Needs, Human Needs. Kayla doesn't have special needs - she has human needs.
And another note on World Down Syndrome Day - as in years past, all donations made today to LuMind RDS will be matched 3:1. How great is that? A $25 donation will be matched with $75 turning that donation into $100.
In more news - Lucas is following in Joe's running shoes. He's running his first 10K in the Cooper River Bridge Run on April 1st. And just like Joe, Lucas is representing LuMind and raising money for Down syndrome research. If you're able to support him in reaching his goal he would really appreciate it! Any donation made today through his Crowdrise page will also be matched 3:1 as the donation goes to LuMind. Thanks for any support!
Saturday, October 29, 2016
Survey on Opinions on Medical Research for Down Syndrome
Researchers at the Mayo Clinic are conducting a survey to learn about what parents and individuals with Down syndrome think about medical research advancements and priorities for Down syndrome.
The information gathered in this study could possibly be used to advocate for the needs of the Down syndrome community in further medical research.
Research into Down syndrome can affect more than just the Down syndrome population - important research is being done on Down syndrome and Alzheimer's which could have implications on the general population of Alzheimer's patients. There are also studies on Down syndrome and cancer; while individuals with Down syndrome have a higher incidence of getting leukemia they also have a higher survival rate - and they have a lower incidence of getting some other types of cancer.
For more information on the latest in the field of research and Down syndrome see LuMind and GDSF websites.
To take the Opinions on Medical Research survey if you are a parent of a child with Down syndrome age 12 and over click here; if you are a person with Down syndrome age 12 and over click here.
(The survey asks for opinions on medical interventions and medicines that do not exist and have not yet been developed.)
Grab This Button
The information gathered in this study could possibly be used to advocate for the needs of the Down syndrome community in further medical research.
Research into Down syndrome can affect more than just the Down syndrome population - important research is being done on Down syndrome and Alzheimer's which could have implications on the general population of Alzheimer's patients. There are also studies on Down syndrome and cancer; while individuals with Down syndrome have a higher incidence of getting leukemia they also have a higher survival rate - and they have a lower incidence of getting some other types of cancer.
For more information on the latest in the field of research and Down syndrome see LuMind and GDSF websites.
To take the Opinions on Medical Research survey if you are a parent of a child with Down syndrome age 12 and over click here; if you are a person with Down syndrome age 12 and over click here.
(The survey asks for opinions on medical interventions and medicines that do not exist and have not yet been developed.)
Grab This Button
Sunday, October 23, 2016
DS Connect: The Down Syndrome Registry
If you are the parent of a person with Down syndrome, or are an adult with Down syndrome, have you heard of, and have you registered with, DS Connect: The Down Syndrome Registry?
I've blogged about this registry before, but just in case there are new parents out there who have stumbled on my blog I wanted to mention it again.
The registry is maintained by the National Institutes of Health and has many consortium members to include (in no particular order) the NDSS, NDSC, SO, GDSF, DSAIA, DSI, IMDSA, LuMind RDS, and JLF.
The registry is where individuals and professionals can set up private accounts and be connected for research studies. You control the information you put in the registry via a secure and password protected account.
Researchers can access de-identified aggregate data to identify target populations for study or trial planning/recruitment.
The goal is to have 10,000 families registered and they are still well short of that goal, but are making some progress (almost 3500 registered families).
Here is the FAQ page to answer many more questions.
Grab This Button
I've blogged about this registry before, but just in case there are new parents out there who have stumbled on my blog I wanted to mention it again.
The registry is maintained by the National Institutes of Health and has many consortium members to include (in no particular order) the NDSS, NDSC, SO, GDSF, DSAIA, DSI, IMDSA, LuMind RDS, and JLF.
The registry is where individuals and professionals can set up private accounts and be connected for research studies. You control the information you put in the registry via a secure and password protected account.
Researchers can access de-identified aggregate data to identify target populations for study or trial planning/recruitment.
The goal is to have 10,000 families registered and they are still well short of that goal, but are making some progress (almost 3500 registered families).
Here is the FAQ page to answer many more questions.
Grab This Button
Sunday, October 16, 2016
Be a Global Champion for Down Syndrome Research
The Global Down Syndrome Foundation is asking for people to sign their petition of support for more funding for Down syndrome research.
Down syndrome is one of the most common genetic conditions, yet consistently remains one of the least funded for research.
With that in mind, Global and their supporters, allies, and friends are at "the forefront of a movement to significantly improve the lives of people with Down syndrome through research, medical care, education, and advocacy.
They will be meeting with The White House, Congress, and the National Institute of Health to state their case for more funding and deliver the petition.
It takes less than a minute to add your name to the petition - will you please consider signing it?
Grab This Button
Down syndrome is one of the most common genetic conditions, yet consistently remains one of the least funded for research.
With that in mind, Global and their supporters, allies, and friends are at "the forefront of a movement to significantly improve the lives of people with Down syndrome through research, medical care, education, and advocacy.
They will be meeting with The White House, Congress, and the National Institute of Health to state their case for more funding and deliver the petition.
It takes less than a minute to add your name to the petition - will you please consider signing it?
Grab This Button
Wednesday, October 12, 2016
Survey for Hispanic Parents of Children with Down Syndrome
Julianne Whitleigh is a Master's in Genetic Counseling student at the University of Maryland School of Medicine.
Grab This Button
Her graduate research project is on the difference in experiences in medical settings for those who speak Spanish (or English as a second language) and those who speak English as their first language as it pertains to receiving a diagnosis of Down syndrome.
This project aims to study the satisfaction with the new diagnosis experiences as explained to Hispanic parents of children with Down syndrome.
The survey, which should take 20-30 min, is available in Spanish and English and focuses on the experience with the first in-depth discussion about the Down syndrome diagnosis. The hope is to use the information gained to help doctors and genetic counselors provide better care to Hispanic families with children with Down syndrome.
No identifying information will be collected on the survey.
If you'd like to participate in this study click here.
Grab This Button
Monday, March 21, 2016
WDSD: My Friends My Community
Today is World Down Syndrome Day: Mar 21, also written as 3/21, chosen because people with Down syndrome have 3 copies of the 21st chromosome. Trisomy 21 in medical terms.
The theme, or Call To Action, from Down Syndrome International for this year's WDSD is #MyFriendsMyCommunity: The benefits of inclusive environments for today's children and tomorrow's adults. They ask that you show the world "how persons with Down syndrome live and participate in the community alongside family, friends, peers and the public."
The more that today's children with Down syndrome are fully included in their schools and communities, the more acceptance they will have from their peers when they reach adulthood. The more inclusive settings now ... the more commonplace it will be for their future.
One of the ways individuals with Down syndrome are participating in their communities and with their peers are through higher education programs at colleges and universities across the states. Check out Think College for a list of participating programs in your state.
Students in these programs are taking some academic courses along with their peers, continuing to improve on independent life skills, and gain employment skills; along with this experience comes a full college tuition as well.
Think College provides a great list of resources for how to pay for college. One of those ways includes scholarships; there are several organizations devoted to giving scholarships to students with Down syndrome such as Ruby's Rainbow.
Ruby's Rainbow awards scholarships up to $3000 per selected student. Their 321 Pledge is simple: donate $21, pledge to be kind and considerate to all people, and ask 3 people to do the same. Will 3 people join me in donating $21 to this fantastic scholarship opportunity for people with Down syndrome?
Don't forget to also leave a comment on my 10 years of blogging post (even if the comment is just saying "Happy WDSD!") For every comment I'm donating $1 to LuMind Research Down Syndrome where donations are matched 3:1 for WDSD.
The theme, or Call To Action, from Down Syndrome International for this year's WDSD is #MyFriendsMyCommunity: The benefits of inclusive environments for today's children and tomorrow's adults. They ask that you show the world "how persons with Down syndrome live and participate in the community alongside family, friends, peers and the public."
The more that today's children with Down syndrome are fully included in their schools and communities, the more acceptance they will have from their peers when they reach adulthood. The more inclusive settings now ... the more commonplace it will be for their future.
One of the ways individuals with Down syndrome are participating in their communities and with their peers are through higher education programs at colleges and universities across the states. Check out Think College for a list of participating programs in your state.
Students in these programs are taking some academic courses along with their peers, continuing to improve on independent life skills, and gain employment skills; along with this experience comes a full college tuition as well.
Think College provides a great list of resources for how to pay for college. One of those ways includes scholarships; there are several organizations devoted to giving scholarships to students with Down syndrome such as Ruby's Rainbow.
Ruby's Rainbow awards scholarships up to $3000 per selected student. Their 321 Pledge is simple: donate $21, pledge to be kind and considerate to all people, and ask 3 people to do the same. Will 3 people join me in donating $21 to this fantastic scholarship opportunity for people with Down syndrome?
Don't forget to also leave a comment on my 10 years of blogging post (even if the comment is just saying "Happy WDSD!") For every comment I'm donating $1 to LuMind Research Down Syndrome where donations are matched 3:1 for WDSD.
Saturday, March 19, 2016
A Decade Of Blogging
March 16 marked ten years of blogging ... 10! (insert fireworks, confetti, and poppers)
How did that go by so fast?
When I started blogging Kayla wasn't quite 3 yet, we livec in NM, and Lucas wasn't even born.
We've moved twice since then, Joe's also deployed twice and retired from the military, Kayla will be a teenagerthis summer, and Lucas is 8.
A couple of years ago I thought I might be finished blogging, but I'm still hanging around.
When Kayla turned 10 I wrote about my experiences thus far of raising a child with Down syndromeand I still feel the same after blogging for 10 years. No great life lessons from me, no profound knowledge of what life is like for our family through 10 years of blogging. We are, simply, just a family.
I don't feel like I have much to add, at this point in our lives, about Down syndrome. Maybe when Kayla is transitioning to high school ... or out of high school ... there will be a lot of transition topics to blog about. It seems so far away, but I know it will be here before we know it. For now I will keep raising awareness, and acceptance, about Down syndrome.
As I mentioned in yesterday's post, Monday is World Down Syndrome Day. Not just here in the United States, but in places all over the world people are celebrating individuals with Down syndrome. Can you imagine that? It really wasn't that long ago that babies with Down syndrome were shuttered away in institutions and their life span wasn't even 10 years. Even though it seems we've come so far since then, and in a lot of ways we have, there is still so much more progress to be made. Babies with Down syndrome are still being shuttered away in orphanages and institutions in Eastern Europe.
Even though progress has been made, Down syndrome continues to be the least funded condition by the NIH despite being the most common genetic disorder. Important research is happening by grants provided by other organizations. Research is so important because you don't know what you don't know ... there are connections with Down syndrome and cancer, Down syndrome and autoimmune diseases, Down syndrome and Alzheimer's. Why not research and find out what is going on, what is the connection, how to help people with Down syndrome and the rest of the population?
One of those wonderful organizations focusing on research is the LuMind Research Down Syndrome Foundation. Once again all donations made to LuMind for WDSD will be matched 3:1.Your $25 donation will turn into $100. This 3:1 matching for WDSD starts TODAY, Saturday, Mar 19 and goes through Mar 21. So three days' worth of donations will be tripled.
A few years ago I started donating $1 for every comment on my blogging anniversary post to LuMind for WDSD where my donation will be matched 3:1 and I am doing that this year as well ... so comment away on this post!
I'd also like to put out a little challenge to any readers, on this, my decade anniversary of blogging, I'm hoping that 21 people will consider also donating to LuMind and have your donations matched 3:1. Donate $10 for 10 years of blogging, or $21 for the extra 21st chromosome. Donate in honor of Kayla, or someone else you know with Down syndrome.
As always, thanks for reading and following along on our journey.
How did that go by so fast?
When I started blogging Kayla wasn't quite 3 yet, we livec in NM, and Lucas wasn't even born.
We've moved twice since then, Joe's also deployed twice and retired from the military, Kayla will be a teenagerthis summer, and Lucas is 8.
A couple of years ago I thought I might be finished blogging, but I'm still hanging around.
When Kayla turned 10 I wrote about my experiences thus far of raising a child with Down syndromeand I still feel the same after blogging for 10 years. No great life lessons from me, no profound knowledge of what life is like for our family through 10 years of blogging. We are, simply, just a family.
I don't feel like I have much to add, at this point in our lives, about Down syndrome. Maybe when Kayla is transitioning to high school ... or out of high school ... there will be a lot of transition topics to blog about. It seems so far away, but I know it will be here before we know it. For now I will keep raising awareness, and acceptance, about Down syndrome.
As I mentioned in yesterday's post, Monday is World Down Syndrome Day. Not just here in the United States, but in places all over the world people are celebrating individuals with Down syndrome. Can you imagine that? It really wasn't that long ago that babies with Down syndrome were shuttered away in institutions and their life span wasn't even 10 years. Even though it seems we've come so far since then, and in a lot of ways we have, there is still so much more progress to be made. Babies with Down syndrome are still being shuttered away in orphanages and institutions in Eastern Europe.
Even though progress has been made, Down syndrome continues to be the least funded condition by the NIH despite being the most common genetic disorder. Important research is happening by grants provided by other organizations. Research is so important because you don't know what you don't know ... there are connections with Down syndrome and cancer, Down syndrome and autoimmune diseases, Down syndrome and Alzheimer's. Why not research and find out what is going on, what is the connection, how to help people with Down syndrome and the rest of the population?
One of those wonderful organizations focusing on research is the LuMind Research Down Syndrome Foundation. Once again all donations made to LuMind for WDSD will be matched 3:1.Your $25 donation will turn into $100. This 3:1 matching for WDSD starts TODAY, Saturday, Mar 19 and goes through Mar 21. So three days' worth of donations will be tripled.
A few years ago I started donating $1 for every comment on my blogging anniversary post to LuMind for WDSD where my donation will be matched 3:1 and I am doing that this year as well ... so comment away on this post!
I'd also like to put out a little challenge to any readers, on this, my decade anniversary of blogging, I'm hoping that 21 people will consider also donating to LuMind and have your donations matched 3:1. Donate $10 for 10 years of blogging, or $21 for the extra 21st chromosome. Donate in honor of Kayla, or someone else you know with Down syndrome.
As always, thanks for reading and following along on our journey.
Thursday, October 22, 2015
R is for Running, Racing, and Research
Joe is the runner in this family. He ran his first marathon in 2012 and this Sunday he will run in his second Marine Corps Marathon, and fifth overall (plus a half thrown in there).
Last year we went to DC to cheer him on and it was a fun time for the kids cheering for everyone and then seeing Joe running towards us.
Since he started running he's been representing Research Down Syndrome Runners raising money for Down syndrome cognition research. RDS recently merged with LuMind which became the LuMind RDS Foundation. They both had the same mission and end goal of raising money for cognition research and they used the same scientific advisory board; now resources can be pooled for one streamlined organization with the runner's program staying active.
If you'd like to support Joe's race this Sunday, and, ultimately support Kayla and all individuals with Down syndrome, please consider a donation to his fundraising page for the Marine Corps Marathon. Every donation is appreciated.
Down syndrome is one of the most common genetic conditions, yet the least funded. LuMind is doing great things in the field of Down syndrome cognition research with providing grants (10.4 million since 2004) for research and we'd like to support this effort in any way that we can.
We had an opportunity to support LuMind RDS in a fun way this past summer - we participated in the 2nd annual Race for Research. This was a 3 day road rally/scavenger hunt through SC/NC with a NASCAR-related theme. One of the highlights of the trip this year was getting a ride in the pace truck for a couple of laps at Darlington Raceway.
Fundraising Websites - Crowdrise
Grab This Button
Last year we went to DC to cheer him on and it was a fun time for the kids cheering for everyone and then seeing Joe running towards us.
Since he started running he's been representing Research Down Syndrome Runners raising money for Down syndrome cognition research. RDS recently merged with LuMind which became the LuMind RDS Foundation. They both had the same mission and end goal of raising money for cognition research and they used the same scientific advisory board; now resources can be pooled for one streamlined organization with the runner's program staying active.
If you'd like to support Joe's race this Sunday, and, ultimately support Kayla and all individuals with Down syndrome, please consider a donation to his fundraising page for the Marine Corps Marathon. Every donation is appreciated.
Down syndrome is one of the most common genetic conditions, yet the least funded. LuMind is doing great things in the field of Down syndrome cognition research with providing grants (10.4 million since 2004) for research and we'd like to support this effort in any way that we can.
We had an opportunity to support LuMind RDS in a fun way this past summer - we participated in the 2nd annual Race for Research. This was a 3 day road rally/scavenger hunt through SC/NC with a NASCAR-related theme. One of the highlights of the trip this year was getting a ride in the pace truck for a couple of laps at Darlington Raceway.
Met NASCAR legend and Hall of Fame-r Cale Yarborough
Running across finish line at Charlotte Motor Speedway
Met current NASCAR driver Austin Dillon
Another legend and International Motorsports HOF-er Humpy Wheeler (also the voice of Tex in the movie CARS) signed Lucas' forehead, and the dollar he gave him for knowing the general area of where Maine is!
Fundraising Websites - Crowdrise
Grab This Button
Sunday, October 04, 2015
C is for Cure
After having a baby with Down syndrome you will inevitably come across a discussion, or asked directly, some version of the hypothetical question "If you could cure your child of having Down syndrome would you?"
I've never put too much thought behind the question, because hypothetical. There wasn't a reason to discuss if I would or wouldn't because there isn't a cure and despite all the research into Down syndrome being done I didn't see how there could ever be a cure.
Down syndrome happens at conception. It's when the 21st chromosome coming from the mother or father doesn't split and the new developing fetus ends up with 3 copies of that chromosome instead of the typical 2. Once that extra chromosome is there, it's there, right? I mean you can't just remove a chromosome after you are born with it, right?
Well a recent press release announced: New Down syndrome Therapy Discovered. A headline like that is definitely eye-catching. The press release is based off the paper "Correction of Down syndrome and Edwards syndrome aneuploidies in human cell cultures."
I wondered how can you 'correct' Down/Edwards syndrome? You're talking about the chromosome in a persons body that is replicated in every cell (unless translocation or mosaic, but still).
I'm not a scientist and I can't write like a scientist, but the gist of the article is that they applied ZSCAN4, a protein, to cells in culture (from 4 individuals with Down syndrome) and after a few weeks they noticed the emergence of up to 24% of cells with only two rather than three copies. G-branded chromosomes also showed up to 40% of cells with normal karyotype. The conclusion is that "direct, efficient correction of aneuploidy in human fibroblast cells seems possible in vitro using human ZSCAN4."
If I'm interpreting this correctly they seem to say that if Down syndrome is confirmed prenatally that they can inject this ZSCAN4 in the fetus and somehow make the 3rd copy of that 21st chromosome disappear? It boggles my mind. How soon in the pregnancy would this have to be administered? Does it make all the extra copies of the chromosome somehow disappear? Does it change the developing fetus from having any characteristics associated with Down syndrome? Does it mean a karyotype would come back with all chromosomes having the typical 2 copies?
Dr Michael Harpold, Chief Scientific Officer of LuMind RDS Foundation published his comments on this new research. He offers a scientific perspective on the study with the conclusion ..."the scientific research is interesting and otherwise could lead to further insights on chromosomal or cell maintenance and functions generally as well as in Ds. This is a research area among a very broad range of other areas that will continue to be monitored. However at this stage, this research study and associated approach would not represent a research area closely relevant to further understanding cognition or development of an associated practical cognitive or Alzheimer’s therapeutic in Ds.
The question is still hypothetical for me and not likely to ever be something that would apply to Kayla; as it is in this study it would be applied in vitro.
Instead of talking about possibilities of a cure that I don't think will happen in Kayla's lifetime (what would that look like anyway - how much would that change her as a person?) I prefer to talk, and think, about research that focuses on Alzeheimer's and improving cognition.
No, I don't want to inherently change Kayla, but Down syndrome does come with some issues that if I could help her with, why wouldn't I? I don't value Kayla based on her IQ - she has value because she is a human being, not because of the number of an IQ test - but if there was something that could help improve her cognition? Well that would help improve her independence and maybe she wouldn't struggle so much with things that we take for granted. How is that any different than me seeking medical treatment for her Obstructive Sleep Apnea?
So for me, a cure is a moot point.
C is also for a picture of Kayla's chromosomes, her characteristics, and Celiac disease.
Grab This Button
I've never put too much thought behind the question, because hypothetical. There wasn't a reason to discuss if I would or wouldn't because there isn't a cure and despite all the research into Down syndrome being done I didn't see how there could ever be a cure.
Down syndrome happens at conception. It's when the 21st chromosome coming from the mother or father doesn't split and the new developing fetus ends up with 3 copies of that chromosome instead of the typical 2. Once that extra chromosome is there, it's there, right? I mean you can't just remove a chromosome after you are born with it, right?
Well a recent press release announced: New Down syndrome Therapy Discovered. A headline like that is definitely eye-catching. The press release is based off the paper "Correction of Down syndrome and Edwards syndrome aneuploidies in human cell cultures."
I wondered how can you 'correct' Down/Edwards syndrome? You're talking about the chromosome in a persons body that is replicated in every cell (unless translocation or mosaic, but still).
I'm not a scientist and I can't write like a scientist, but the gist of the article is that they applied ZSCAN4, a protein, to cells in culture (from 4 individuals with Down syndrome) and after a few weeks they noticed the emergence of up to 24% of cells with only two rather than three copies. G-branded chromosomes also showed up to 40% of cells with normal karyotype. The conclusion is that "direct, efficient correction of aneuploidy in human fibroblast cells seems possible in vitro using human ZSCAN4."
If I'm interpreting this correctly they seem to say that if Down syndrome is confirmed prenatally that they can inject this ZSCAN4 in the fetus and somehow make the 3rd copy of that 21st chromosome disappear? It boggles my mind. How soon in the pregnancy would this have to be administered? Does it make all the extra copies of the chromosome somehow disappear? Does it change the developing fetus from having any characteristics associated with Down syndrome? Does it mean a karyotype would come back with all chromosomes having the typical 2 copies?
Dr Michael Harpold, Chief Scientific Officer of LuMind RDS Foundation published his comments on this new research. He offers a scientific perspective on the study with the conclusion ..."the scientific research is interesting and otherwise could lead to further insights on chromosomal or cell maintenance and functions generally as well as in Ds. This is a research area among a very broad range of other areas that will continue to be monitored. However at this stage, this research study and associated approach would not represent a research area closely relevant to further understanding cognition or development of an associated practical cognitive or Alzheimer’s therapeutic in Ds.
The question is still hypothetical for me and not likely to ever be something that would apply to Kayla; as it is in this study it would be applied in vitro.
Instead of talking about possibilities of a cure that I don't think will happen in Kayla's lifetime (what would that look like anyway - how much would that change her as a person?) I prefer to talk, and think, about research that focuses on Alzeheimer's and improving cognition.
No, I don't want to inherently change Kayla, but Down syndrome does come with some issues that if I could help her with, why wouldn't I? I don't value Kayla based on her IQ - she has value because she is a human being, not because of the number of an IQ test - but if there was something that could help improve her cognition? Well that would help improve her independence and maybe she wouldn't struggle so much with things that we take for granted. How is that any different than me seeking medical treatment for her Obstructive Sleep Apnea?
So for me, a cure is a moot point.
C is also for a picture of Kayla's chromosomes, her characteristics, and Celiac disease.
Grab This Button
Wednesday, March 18, 2015
If I Had One Hundred Dollars
Going through Lucas' school folder I found this writing prompt he had on the 100th day of school.
The prompt was If had one hundred dollars ... and to write about what you would buy and why.
My sweet boy.
I love that when given this prompt the first two things he wrote about were for giving to others.
"I would give some to the LuMind (I can see that he attempted to write Foundation, but gave up on the spelling and erased it) and some people who don't have enough money to buy stuff and I would spend the rest for a new game."
So Lucas is putting his money where his mouth is, or rather, where is writing is! He is donating money to the LuMind Research Down Syndrome Foundation in honor of his sister on World Down Syndrome Day when donations are matched 3:1
All donations will be matched 3:1 during the 3-2-1 countdown to World Down Syndrome Day (donations made Wednesday through Saturday, Mar 21st, will be matched 3:1).
What better time to donate than now, when as Lucas explained in the video, you can donate $5 and an anonymous donor will match it with 15 more dollars?
Lucas wanted to know if other people would donate $5 with him so there will be a total of $20 being donated each time. So I set him up with a fundraising page if you would like to join him in donating $5 in honor of Kayla and all people with Down syndrome. Thank you!
Lucas H's Personal Page for LuMind Foundation's Personal Fundraising Center
Also, I'm donating $1 per comment on my blogging anniversary post to LuMind as well.
The prompt was If had one hundred dollars ... and to write about what you would buy and why.
My sweet boy.
I love that when given this prompt the first two things he wrote about were for giving to others.
"I would give some to the LuMind (I can see that he attempted to write Foundation, but gave up on the spelling and erased it) and some people who don't have enough money to buy stuff and I would spend the rest for a new game."
So Lucas is putting his money where his mouth is, or rather, where is writing is! He is donating money to the LuMind Research Down Syndrome Foundation in honor of his sister on World Down Syndrome Day when donations are matched 3:1
All donations will be matched 3:1 during the 3-2-1 countdown to World Down Syndrome Day (donations made Wednesday through Saturday, Mar 21st, will be matched 3:1).
What better time to donate than now, when as Lucas explained in the video, you can donate $5 and an anonymous donor will match it with 15 more dollars?
Lucas wanted to know if other people would donate $5 with him so there will be a total of $20 being donated each time. So I set him up with a fundraising page if you would like to join him in donating $5 in honor of Kayla and all people with Down syndrome. Thank you!
Lucas H's Personal Page for LuMind Foundation's Personal Fundraising Center
Also, I'm donating $1 per comment on my blogging anniversary post to LuMind as well.
Monday, March 16, 2015
A Blogging Anniversary
This is my ninth year of blogging and while there are times I think it's time to hang it up, today isn't the day.
Today I will keep up with a tradition I started a couple of years ago on my 'blogiversary' - donating $1 for every comment on this post to an organization centered on Down syndrome cognition research.
LuMind Foundation and Research Down Syndrome recently merged to become LuMind Research Down Syndrome Foundation. This is exciting news since they both shared the same mission of Down syndrome cognition research and used the same scientific advisory board. Now resources can be combined for greater power in focusing on cognition and Alzheimer research. My family has supported both organizations with Joe raising money for the RDS Runners program - which will carryover to the merged organization - I'm excited to see them become one organization.
As in years past, for World Down Syndrome Day (Mar 21st), all donations to LuMind RDS Foundation will be matched 3:1.
Please join me in celebrating not only my blog's anniversary, but celebrating Kayla on World Down Syndrome Day, by leaving a comment on this post.
Thank you for following along with our family's journey.
Today I will keep up with a tradition I started a couple of years ago on my 'blogiversary' - donating $1 for every comment on this post to an organization centered on Down syndrome cognition research.
LuMind Foundation and Research Down Syndrome recently merged to become LuMind Research Down Syndrome Foundation. This is exciting news since they both shared the same mission of Down syndrome cognition research and used the same scientific advisory board. Now resources can be combined for greater power in focusing on cognition and Alzheimer research. My family has supported both organizations with Joe raising money for the RDS Runners program - which will carryover to the merged organization - I'm excited to see them become one organization.
As in years past, for World Down Syndrome Day (Mar 21st), all donations to LuMind RDS Foundation will be matched 3:1.
Please join me in celebrating not only my blog's anniversary, but celebrating Kayla on World Down Syndrome Day, by leaving a comment on this post.
Thank you for following along with our family's journey.
Monday, October 20, 2014
Why Research On Down Syndrome?
Years ago it was thought that individuals with Down syndrome weren't capable of, well, just about anything, so it was standard practice to immediately institutionalize babies born with Down syndrome.
I've said it before, and I'll say it again, you put any baby in an institution without stimulation, love, opportunities to grow and learn ... of course they won't learn anything!
Along with the institutionalization there was the attitude that there was no reason to do research that would help with a better quality of life.
Things have changed and thanks to research more is understood about Down syndrome. Despite the fact that Down syndrome remains the most common chromosomal disorder but the least funded by the NIH, research is being done by a number of organizations who realize the importance of research and Down syndrome.
They are discovering that by researching the genes and secrets that are held on that 21st chromosome they can also research medical mysteries beyond Down syndrome - issues like Alzheimer's and cancer.
Even as recently as 5 years ago I blogged about individuals with Down syndrome having a higher chance of being diagnosed with leukemia, but also a higher chance of beating cancer.
Does Study Of Down Syndrome Hold A Possible Cancer Cure? is a more recent article bringing light to the need for research on the 21st chromosome and the positive impact it can have on a larger part of society. "Therefore, our friends and relatives with Down syndrome are, even if unintentionally, enabling discoveries about how cancers develop and how to combat them."
Exactly. Research is important and it's why we support the work that organizations like LuMind Foundation, Research Down Syndrome, Global Down Syndrome Foundation, just to name a few, are doing. It's why it's important to raise awareness and take action on research and spread information on the Down Syndrome Registry.
I've said it before, and I'll say it again, you put any baby in an institution without stimulation, love, opportunities to grow and learn ... of course they won't learn anything!
Along with the institutionalization there was the attitude that there was no reason to do research that would help with a better quality of life.
Things have changed and thanks to research more is understood about Down syndrome. Despite the fact that Down syndrome remains the most common chromosomal disorder but the least funded by the NIH, research is being done by a number of organizations who realize the importance of research and Down syndrome.
They are discovering that by researching the genes and secrets that are held on that 21st chromosome they can also research medical mysteries beyond Down syndrome - issues like Alzheimer's and cancer.
Even as recently as 5 years ago I blogged about individuals with Down syndrome having a higher chance of being diagnosed with leukemia, but also a higher chance of beating cancer.
Does Study Of Down Syndrome Hold A Possible Cancer Cure? is a more recent article bringing light to the need for research on the 21st chromosome and the positive impact it can have on a larger part of society. "Therefore, our friends and relatives with Down syndrome are, even if unintentionally, enabling discoveries about how cancers develop and how to combat them."
Exactly. Research is important and it's why we support the work that organizations like LuMind Foundation, Research Down Syndrome, Global Down Syndrome Foundation, just to name a few, are doing. It's why it's important to raise awareness and take action on research and spread information on the Down Syndrome Registry.
Monday, October 13, 2014
DS Connect: Have You Connected?
If you are the parent or legal guardian of, or an adult person with Down syndrome, have you signed up with DS Connect yet?
What is DS Connect? It is a national registry for individuals with Down syndrome and their families funded by the NIH's Eunice Kennedy Shriver National Institute of Child Health and Human Development. The registry will connect volunteer families with researchers, clinicians and other professionals for research studies.
The need for the registry was explained in two Down syndrome consortium meetings about 4 years ago.
This need for contact registries for DS has been underscored by the concerns of participants in two recent meetings, a Down Syndrome Registry Meeting sponsored by the National Down Syndrome Society in September, 2010, and Down Syndrome: National Conference on Patient Registries, Research Databases, and Biobanks, sponsored jointly by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and the Global Down Syndrome Foundation in December, 2010. The NICHD recognizes that the DS advocacy community has already made significant strides towards the creation of a contact registry relevant to engaging DS individuals and their families in basic, clinical, and translational research. However, significant issues remain with regard to research databases and biospecimens repositories. With regard to research databases, the NICHD recognizes several goals for these resources.
Many other medical conditions have registries, until now there hasn't been one for Down syndrome. There was a time when research on Down syndrome wasn't important; yet society has come to realize it is important. It is important to discover how and why that extra chromosome affects an individual. Up to date and accurate information can only help further research which in turn helps in understanding Down syndrome.
This is not about finding a cure for Down syndrome - that extra chromosome happens at conception - but about a registry that can help advance research discoveries, develop treatments and improve the quality of life for people living with Down syndrome.
The registry is what each family makes of it. You register with your own user name and password on the secure site and you control what and how much information you want to include. You don't have to do it all at once, you can register and log back in at a later time to input medical information.
Researchers can then access de-indentified aggregate data to identify target populations for study or trial planning/recruitment. Families can explore the data that has been entered to learn more about Down syndrome and how other families have been impacted.
I know there are many questions out there about the registry, who is maintaining it, how it will be used, who has access etc ... here is the link to the FAQ page where most of the questions are answered.
The goal is to have 10,000 individuals registered and the registry is currently at 2356.
Founders of The LuMind Foundation have put out a challenge to help spread the word about the registry and increase registration. Throughout the month of Oct for each new registrant the founders will donate $100 to LuMind. For every registrant over 125 the amount will be doubled.
Since the beginning of Oct there have already been 74 new people registered. If you're not yet registered will you take the challenge and register? No cost to register and you help increase research funding to LuMind Foundation at no cost to you.
If you are registered will you help spread the news about the registry, and the challenge?
What is DS Connect? It is a national registry for individuals with Down syndrome and their families funded by the NIH's Eunice Kennedy Shriver National Institute of Child Health and Human Development. The registry will connect volunteer families with researchers, clinicians and other professionals for research studies.
The need for the registry was explained in two Down syndrome consortium meetings about 4 years ago.
This need for contact registries for DS has been underscored by the concerns of participants in two recent meetings, a Down Syndrome Registry Meeting sponsored by the National Down Syndrome Society in September, 2010, and Down Syndrome: National Conference on Patient Registries, Research Databases, and Biobanks, sponsored jointly by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and the Global Down Syndrome Foundation in December, 2010. The NICHD recognizes that the DS advocacy community has already made significant strides towards the creation of a contact registry relevant to engaging DS individuals and their families in basic, clinical, and translational research. However, significant issues remain with regard to research databases and biospecimens repositories. With regard to research databases, the NICHD recognizes several goals for these resources.
Many other medical conditions have registries, until now there hasn't been one for Down syndrome. There was a time when research on Down syndrome wasn't important; yet society has come to realize it is important. It is important to discover how and why that extra chromosome affects an individual. Up to date and accurate information can only help further research which in turn helps in understanding Down syndrome.
This is not about finding a cure for Down syndrome - that extra chromosome happens at conception - but about a registry that can help advance research discoveries, develop treatments and improve the quality of life for people living with Down syndrome.
The registry is what each family makes of it. You register with your own user name and password on the secure site and you control what and how much information you want to include. You don't have to do it all at once, you can register and log back in at a later time to input medical information.
Researchers can then access de-indentified aggregate data to identify target populations for study or trial planning/recruitment. Families can explore the data that has been entered to learn more about Down syndrome and how other families have been impacted.
I know there are many questions out there about the registry, who is maintaining it, how it will be used, who has access etc ... here is the link to the FAQ page where most of the questions are answered.
The goal is to have 10,000 individuals registered and the registry is currently at 2356.
Founders of The LuMind Foundation have put out a challenge to help spread the word about the registry and increase registration. Throughout the month of Oct for each new registrant the founders will donate $100 to LuMind. For every registrant over 125 the amount will be doubled.
Since the beginning of Oct there have already been 74 new people registered. If you're not yet registered will you take the challenge and register? No cost to register and you help increase research funding to LuMind Foundation at no cost to you.
If you are registered will you help spread the news about the registry, and the challenge?
Thursday, September 11, 2014
Retirement Tour Marathons
It's official.
My husband, Joe, is retiring from the Air Force after 22 years. How I feel about that is a post for another day.
This post is about his 'retirement tour' - the races he'll be running in by the end of this year.
He registered to run in his third Air Force Marathon and I half-jokingly said to him that he should do a 'retirement tour' and make it military-related since he's retiring from the military.
So he took up the challenge.
He'll also be running in the Marine Corps Marathon and the Army Ten Miler.
For each race he will also be running for Research Down Syndrome - as he's done in the past. RDS Mission is to "...fund and support scientific research directed towards the development of safe and effective drug therapies that will improve memory, learning, and communication in persons with Down syndrome and address the increased likelihood for Alzheimer's disease."
Any donations to Joe's fundraising page is much appreciated.
Fundraising Websites - Crowdrise
My husband, Joe, is retiring from the Air Force after 22 years. How I feel about that is a post for another day.
This post is about his 'retirement tour' - the races he'll be running in by the end of this year.
He registered to run in his third Air Force Marathon and I half-jokingly said to him that he should do a 'retirement tour' and make it military-related since he's retiring from the military.
So he took up the challenge.
He'll also be running in the Marine Corps Marathon and the Army Ten Miler.
For each race he will also be running for Research Down Syndrome - as he's done in the past. RDS Mission is to "...fund and support scientific research directed towards the development of safe and effective drug therapies that will improve memory, learning, and communication in persons with Down syndrome and address the increased likelihood for Alzheimer's disease."
Any donations to Joe's fundraising page is much appreciated.
Fundraising Websites - Crowdrise
Friday, July 25, 2014
Scavenger Hunt
I haven't had a chance to post a recap on LuMind Foundation's Race for Research Road Rally we participated in last month.
It was a fun, busy 3 days of driving from one NASCAR-themed location to another throughout NC, TN, and VA. We had scavenger hunt items to locate and/or take pictures of along the way.
The scavenger hunt was a fun challenge! Each morning we would get our list and I would look at it thinking there was no way we would find everything on the list; yet somehow we managed to find everything. Only one picture eluded us and I think it was that picture that separated us from first and second place!
My favorite scavenger hunt picture was "a dog in a car." Thank goodness Lucas brought along Henry for the ride! (Side note: A guy at the hotel spotted Lucas and Henry and stopped to tell us that he had that stuffed dog as a kid and it was still in his possession. He asked if he could take a picture of Lucas and Henry because his daughters would get a kick out of it. My own Henry story is here with Kayla then receiving the below Henry that Lucas has now attached to.)
We had to get creative and imaginative for some our scavenger hunt items. One such item was "a receipt from an oil change." I had my oil changed a few days before the trip, but took the receipt out of the van. So we stopped at a quick-service oil change place and I got to explain what we were doing and why were were doing it. The lady working there has a nephew with autism; connections like that are neat. They were able to print us out a receipt from a customer who just left and paid cash (so no credit card information was on the receipt).
We got these cool magnetic decals for our cars. Wells Fargo was one of the sponsors, and we needed a picture of Wells Fargo - so there you go!
When we got a tour of NASCAR driver David Ragan's sponsor Front Row Motorsports I asked if they could spare a quart of oil ... all for the scavenger hunt.
Likewise at Richard Petty Motorsports where I was able to snag (I asked!) a spark plug, scissors, and soda can.
I found this nice police officer outside of a store in a shopping center and he obliged our request to stage this pull-over for a photo of "a routine traffic stop on the side of the road."
And our photo for "team member filling up tank of gas."
For a postage stamp we stopped at a random business, once again explaining what we were doing, and why, and the business we happened to be in was one that provided services to people with disabilities.
That was my favorite part of the scavenger hunt - the few times we were in the community looking for items we needed and being able to talk about LuMind Foundation. the Race for Research fundraiser, and Down syndrome cognition research.
Our team award for 2nd place in the scavenger hunt:
It was a fun, busy 3 days of driving from one NASCAR-themed location to another throughout NC, TN, and VA. We had scavenger hunt items to locate and/or take pictures of along the way.
The scavenger hunt was a fun challenge! Each morning we would get our list and I would look at it thinking there was no way we would find everything on the list; yet somehow we managed to find everything. Only one picture eluded us and I think it was that picture that separated us from first and second place!
My favorite scavenger hunt picture was "a dog in a car." Thank goodness Lucas brought along Henry for the ride! (Side note: A guy at the hotel spotted Lucas and Henry and stopped to tell us that he had that stuffed dog as a kid and it was still in his possession. He asked if he could take a picture of Lucas and Henry because his daughters would get a kick out of it. My own Henry story is here with Kayla then receiving the below Henry that Lucas has now attached to.)
We had to get creative and imaginative for some our scavenger hunt items. One such item was "a receipt from an oil change." I had my oil changed a few days before the trip, but took the receipt out of the van. So we stopped at a quick-service oil change place and I got to explain what we were doing and why were were doing it. The lady working there has a nephew with autism; connections like that are neat. They were able to print us out a receipt from a customer who just left and paid cash (so no credit card information was on the receipt).
We got these cool magnetic decals for our cars. Wells Fargo was one of the sponsors, and we needed a picture of Wells Fargo - so there you go!
When we got a tour of NASCAR driver David Ragan's sponsor Front Row Motorsports I asked if they could spare a quart of oil ... all for the scavenger hunt.
Likewise at Richard Petty Motorsports where I was able to snag (I asked!) a spark plug, scissors, and soda can.
I found this nice police officer outside of a store in a shopping center and he obliged our request to stage this pull-over for a photo of "a routine traffic stop on the side of the road."
And our photo for "team member filling up tank of gas."
For a postage stamp we stopped at a random business, once again explaining what we were doing, and why, and the business we happened to be in was one that provided services to people with disabilities.
That was my favorite part of the scavenger hunt - the few times we were in the community looking for items we needed and being able to talk about LuMind Foundation. the Race for Research fundraiser, and Down syndrome cognition research.
Our team award for 2nd place in the scavenger hunt:
Subscribe to:
Comments (Atom)
