Jill Williams
@jillswilliams.bsky.social
Science writer, patient advocate, mom, deputy director at the National Urea Cycle Disorders Foundation @nucdf.bsky.social All opinions are my own.
Reposted by Jill Williams
Be part of Rare Disease Week on Capitol Hill! Join virtually to learn about #raredisease policy priorities:
✅ "Rare Reels" documentaries highlighting powerful stories
✅ Legislative Conference (Tues 9-5 EST)
✅ Rare Disease Congressional Caucus Briefing (Wed 9-10 EST)
Watch at shorturl.at/NLcxO
✅ "Rare Reels" documentaries highlighting powerful stories
✅ Legislative Conference (Tues 9-5 EST)
✅ Rare Disease Congressional Caucus Briefing (Wed 9-10 EST)
Watch at shorturl.at/NLcxO
February 25, 2025 at 2:54 PM
Be part of Rare Disease Week on Capitol Hill! Join virtually to learn about #raredisease policy priorities:
✅ "Rare Reels" documentaries highlighting powerful stories
✅ Legislative Conference (Tues 9-5 EST)
✅ Rare Disease Congressional Caucus Briefing (Wed 9-10 EST)
Watch at shorturl.at/NLcxO
✅ "Rare Reels" documentaries highlighting powerful stories
✅ Legislative Conference (Tues 9-5 EST)
✅ Rare Disease Congressional Caucus Briefing (Wed 9-10 EST)
Watch at shorturl.at/NLcxO
I'm proud to share this look back at all @nucdf.bsky.social accomplished in 2024. Wow what a busy year!
We are excited to share our end-of-year review! Check out all we've done, from family conferences to fundraisers, new support resources to scientific conferences and so much more. Thanks to all who helped make 2024 a success!
76cc07341.flowpaper.com/YearinReview...
#UCDs #Raredisease
76cc07341.flowpaper.com/YearinReview...
#UCDs #Raredisease
January 17, 2025 at 3:23 PM
I'm proud to share this look back at all @nucdf.bsky.social accomplished in 2024. Wow what a busy year!
Takeaway from this important study for female #OTC carriers: “Chronically elevated ammonia levels can cause more subtle problems. Stress...may tip them over into a hyperammonemia crisis. Their symptoms can change over time. We need better ways to monitor and manage these risks.”
More 2024 research news: female #OTC carriers face both symptoms & health risks at higher levels than previously thought. They should be monitored to reduce risks and possibly treated to address symptoms that may have gone unrecognized. #UCD #raredisease #x-linked
nucdf.org/research-new...
nucdf.org/research-new...
December 18, 2024 at 4:54 PM
Takeaway from this important study for female #OTC carriers: “Chronically elevated ammonia levels can cause more subtle problems. Stress...may tip them over into a hyperammonemia crisis. Their symptoms can change over time. We need better ways to monitor and manage these risks.”
Another @jasonmast.bsky.social story on the extremes to which #raredisease parents must go to advance gene therapies. Saddest line: “As he gets older, I feel like hope doesn’t fade for the greater community, but it definitely does for your child."
www.statnews.com/2024/12/16/g...
www.statnews.com/2024/12/16/g...
(Your name here) gene therapy: new fund-raising gambit for family with rare disease
With the drug industry’s waning interest in gene therapy, a family tries a staple of philanthropy: honorary naming.
www.statnews.com
December 16, 2024 at 4:42 PM
Another @jasonmast.bsky.social story on the extremes to which #raredisease parents must go to advance gene therapies. Saddest line: “As he gets older, I feel like hope doesn’t fade for the greater community, but it definitely does for your child."
www.statnews.com/2024/12/16/g...
www.statnews.com/2024/12/16/g...
Revisit a compelling story by @brittanytrang.bsky.social about gene therapy from the patient's perspective:
www.statnews.com/2023/12/13/g...
www.statnews.com/2023/12/13/g...
Gene therapy offered this 7-year-old freedom. The price: a grueling year
For a 7-year-old girl, a gene therapy for beta thalassemia offered freedom. The price: a grueling year.
www.statnews.com
December 13, 2024 at 3:38 PM
Revisit a compelling story by @brittanytrang.bsky.social about gene therapy from the patient's perspective:
www.statnews.com/2023/12/13/g...
www.statnews.com/2023/12/13/g...
A recording of the FDA Center for Biologics Evaluation and Research (CBER) event "Patient and Care Partner Perspectives on Early Enrollment into Gene Therapy Clinical Trials for Rare Diseases" is now available here: www.fda.gov/news-events/...
#RareDisease #GeneTherapy #ClinicalTrials
#RareDisease #GeneTherapy #ClinicalTrials
Meeting 2: Perspectives on Early Gene Therapy Trials
Gene therapy trials inform risks & benefits for informed decisions. Long-term follow-up crucial for safety & durability assessment.
www.fda.gov
December 12, 2024 at 9:34 PM
A recording of the FDA Center for Biologics Evaluation and Research (CBER) event "Patient and Care Partner Perspectives on Early Enrollment into Gene Therapy Clinical Trials for Rare Diseases" is now available here: www.fda.gov/news-events/...
#RareDisease #GeneTherapy #ClinicalTrials
#RareDisease #GeneTherapy #ClinicalTrials
Here's a link to the major, U.S.-based research consortium doing research into urea cycle disorders #UCDs. A database of their scientific papers, many with plain language summaries, is available here: ucdc.rarediseasesnetwork.org/research-pub...
December 12, 2024 at 4:06 PM
Here's a link to the major, U.S.-based research consortium doing research into urea cycle disorders #UCDs. A database of their scientific papers, many with plain language summaries, is available here: ucdc.rarediseasesnetwork.org/research-pub...
Love this work by @aimeedudley.bsky.social & her team @pnrigenetics.bsky.social. The patient community is eager to better understand genetic test results
Resharing one of our most important stories in 2024: Aimée Dudley @aimeedudley.bsky.social & her team @pnrigenetics.bsky.social are using yeast genetics to help us better understand the impact of variants of uncertain significance #VUS related to urea cycle disorders #UCDs
bit.ly/nucdf-yeast-...
bit.ly/nucdf-yeast-...
December 10, 2024 at 7:48 PM
Love this work by @aimeedudley.bsky.social & her team @pnrigenetics.bsky.social. The patient community is eager to better understand genetic test results
This is such an important article - there has to be a better way to get rare disease treatments to patients. Thank you, @jasonmast.bsky.social www.statnews.com/2024/12/09/p...
This father built a gene therapy for his son. Now comes the harder part: saving others' children, too
Terry Pirovolakis built a gene therapy to save his son from an ultra-rare disease. Now he has become the first stop and last hope for other desperate parents.
www.statnews.com
December 10, 2024 at 3:39 PM
This is such an important article - there has to be a better way to get rare disease treatments to patients. Thank you, @jasonmast.bsky.social www.statnews.com/2024/12/09/p...
Ammonia tests save lives. Download this infographic and other resources from our #CheckAmmonia toolkit
nucdf.org/about-ucd/re...
nucdf.org/about-ucd/re...
An ammonia test can save a life. Here are the key procedures to follow for an accurate result:
checkammonia.com
#UCDs #CheckAmmonia #hyperammonemia #IEMs #raredisease
checkammonia.com
#UCDs #CheckAmmonia #hyperammonemia #IEMs #raredisease
December 6, 2024 at 4:18 PM
Ammonia tests save lives. Download this infographic and other resources from our #CheckAmmonia toolkit
nucdf.org/about-ucd/re...
nucdf.org/about-ucd/re...
Reposted by Jill Williams
High ammonia can strike at any age and lead to neurological damage or death, but testing for #hyperammonemia can save a life. Know the symptoms and remember to #CheckAmmonia
checkammonia.com
#UCDs #RareDisease #InbornErrorsOfMetabolism
checkammonia.com
#UCDs #RareDisease #InbornErrorsOfMetabolism
December 5, 2024 at 2:17 PM
High ammonia can strike at any age and lead to neurological damage or death, but testing for #hyperammonemia can save a life. Know the symptoms and remember to #CheckAmmonia
checkammonia.com
#UCDs #RareDisease #InbornErrorsOfMetabolism
checkammonia.com
#UCDs #RareDisease #InbornErrorsOfMetabolism
The National Urea Cycle Disorders Foundation is now on Bluesky! Please follow @nucdf.bsky.social for the latest on our work to advance research, improve care, and raise awareness of this group of rare genetic diseases
#UCDs #NUCDF #RareDisease #ureacycle #hyperammonemia #metabolicdisorder #IEMs
#UCDs #NUCDF #RareDisease #ureacycle #hyperammonemia #metabolicdisorder #IEMs
December 2, 2024 at 6:26 PM
The National Urea Cycle Disorders Foundation is now on Bluesky! Please follow @nucdf.bsky.social for the latest on our work to advance research, improve care, and raise awareness of this group of rare genetic diseases
#UCDs #NUCDF #RareDisease #ureacycle #hyperammonemia #metabolicdisorder #IEMs
#UCDs #NUCDF #RareDisease #ureacycle #hyperammonemia #metabolicdisorder #IEMs
Important new research: The more we can learn about the experiences of patients in a high ammonia crisis, the more we can improve their care. bit.ly/nucdf-seizur...
#UCDs #RareDisease #Hyperammonemia
#UCDs #RareDisease #Hyperammonemia
New research examines risks, outcomes of seizure activity in patients hospitalized with high ammonia bit.ly/nucdf-seizur...
#RareDisease #UCDs #hyperammonemia @stjuderesearch.bsky.social @childrensnational.bsky.social
#RareDisease #UCDs #hyperammonemia @stjuderesearch.bsky.social @childrensnational.bsky.social
December 2, 2024 at 2:37 PM
Important new research: The more we can learn about the experiences of patients in a high ammonia crisis, the more we can improve their care. bit.ly/nucdf-seizur...
#UCDs #RareDisease #Hyperammonemia
#UCDs #RareDisease #Hyperammonemia
New research: Patients with high ammonia levels #hyperammonemia are at high risk of acute seizures. An analysis of data on 40 patients with inborn errors of metabolism hospitalized w/ high ammonia offered key insights (1/3) bit.ly/nucdf-seizur...
#UCDs #RareDisease #neuro
#UCDs #RareDisease #neuro
November 21, 2024 at 6:17 PM
New research: Patients with high ammonia levels #hyperammonemia are at high risk of acute seizures. An analysis of data on 40 patients with inborn errors of metabolism hospitalized w/ high ammonia offered key insights (1/3) bit.ly/nucdf-seizur...
#UCDs #RareDisease #neuro
#UCDs #RareDisease #neuro
I'm excited to see the growth of #scicomm on Bluesky! Follow me for research news from the National Urea Cycle Disorders Foundation - aiming to improve the lives of people affected by urea cycle disorders, rare genetic metabolic diseases nucdf.org/research-new...
#RareDisease #NUCDF #UCDs
#RareDisease #NUCDF #UCDs
November 21, 2024 at 5:59 PM
I'm excited to see the growth of #scicomm on Bluesky! Follow me for research news from the National Urea Cycle Disorders Foundation - aiming to improve the lives of people affected by urea cycle disorders, rare genetic metabolic diseases nucdf.org/research-new...
#RareDisease #NUCDF #UCDs
#RareDisease #NUCDF #UCDs