LTs Tracks 4 Xtreme
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LTs Tracks 4 Xtreme
Raising Awareness 4 Rare & Undiagnosed Diseases / Disorder's & Congenital Heart Defects
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Large study finds 14 new genetic disorders in children

Large study finds 14 new genetic disorders in children | LTs Tracks 4 Xtreme | Scoop.it
The largest genetic study to be performed in children with previously undiagnosed developmental disorders uncovers 14 new mutations.

Via Enzo Calamo
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FDA approves new drug to treat multiple sclerosis

FDA approves new drug to treat multiple sclerosis | LTs Tracks 4 Xtreme | Scoop.it
On March 28, the U.S. Food and Drug Administration approved Ocrevus (ocrelizumab) to treat adult patients with relapsing forms of multiple sclerosis (MS) and primary progressive multiple sclerosis (PPMS). This is the first drug approved by the FDA for PPMS. Ocrevus is an intravenous infusion given by a health care professional.

Via Krishan Maggon
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Local business fundraising in honor of baby Finn

Local business fundraising in honor of baby Finn | LTs Tracks 4 Xtreme | Scoop.it

RICHMOND, Va. (WRIC) — At 2-years-old, Finn Blumenthal has already gone through more than many do in a lifetime.
Born with a congenital heart defect, he spent eight months in the hospital and survived ten surgeries. He’s also been an inspiration to many by raising awareness through sharing his story.
“We’ve been following their story with Finn for quite a while,” said Josh Curtis who runs several Liberty Tax branches in the area.
Curtis and his wife have been friends with the Blumenthals for years. The Curtis’ decided to give back in Finn’s name.
“Every paid tax return in the month of March we’re donating $50 to the American Heart Association in honor of Finn,” Curtis said.

“It’s an honor for us, it’s very exciting,” Kelly Blumenthal, Finn’s mother said.
Blumenthal says the money will go a long way.
“The funds alone, to be able to help families who are going through the types of challenges that we are, and being able to bring better technology and better medicines is just going to be life changing,” Blumenthal said.

 
“It makes it very real, it makes it very visceral when it’s someone that’s close to you and you can see the impact of those dollars,” Curtis said.
But perhaps even more valuable, she says is the awareness the fundraiser will raise.
“Everything stems from awareness, awareness leads to funding, funding leads to research and research is what leads hope for kids like Finn and families like ours,” Blumenthal said.
“We just want to use what we can to give back and help people raise awareness,” Curtis said.

Blumenthal says Finn has already had a bigger impact on people’s lives than they ever expected.
“The more people that reach out, the more it just shows that we’re helping to reach out and his purpose is a lot bigger than we ever thought,” Blumenthal said.
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Our Website Addy and Contact Information

Our Website Addy and Contact Information | LTs Tracks 4 Xtreme | Scoop.it

If you would like to find out more information on Undiagnosed/Rare Disorders & Congenital Heart Defect/s and how to help you can visit our main site  

 

LT's Tracks 4 Xtreme aka lt4xtreme
http://lt4swanchd.wixsite.com/lt4xtreme

 

Within Our Website  you can click into all sorts of listed awareness sites and Mine and My Sons'(Timothy) Stories and Symptomology.....

 

You can contact me at                                               

lt4swanchd@yahoo.com or ltxtreme@yahoo.com                    

 

L.T.'s site is not intended for Medical Advice. Do not use this site for the diagnosis and or treatment of a Patient. Please contact your family doctor for further information and direction... THANK YOU!!!

Laura C./Special Needs Xtreme(aka lt4swanchd)

PLEASE NOTE;   OUR SCOOP IT SITE IS STILL UNDER CONSTRUCTION..STAY TUNED FOR MORE INFO...

 

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Mayo Clinic, Children’s Hospital of Philadelphia announce rare congenital heart defect collaboration

Mayo Clinic, Children’s Hospital of Philadelphia announce rare congenital heart defect collaboration | LTs Tracks 4 Xtreme | Scoop.it
ROCHESTER, Minn. and PHILADELPHIA — Mayo Clinic’s Todd and Karen Wanek Family Program for Hypoplastic Left Heart Syndrome and Child…
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Recognizing Rare Diseases - Science and Technology Research News

Recognizing Rare Diseases - Science and Technology Research News | LTs Tracks 4 Xtreme | Scoop.it
Research and clinical care complement each other at The Neuro February 28th was Rare Diseases Day, an opportunity to recognize a class of disease that is often overlooked. In the past five years, the Montreal Neurological Institute and Hospital (The Neuro) has made the study and treatment of rare diseases a major priority, hiring new …
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Rubinstein Taybi Syndrome - NORD (National Organization for Rare Disorders)

Rubinstein Taybi Syndrome - NORD (National Organization for Rare Disorders) | LTs Tracks 4 Xtreme | Scoop.it
Let's hear it friends with Rubinstein–Taybi Syndrome! For more info on this #RareDiseaseDay update & ways to help: https://t.co/0lRkcD8fsC
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NGO Committee for Rare Diseases Inauguration Report - NGO Committee for Rare Diseases

NGO Committee for Rare Diseases Inauguration Report - NGO Committee for Rare Diseases | LTs Tracks 4 Xtreme | Scoop.it
NGO Committee for Rare Diseases Inauguration report now available     Dear colleagues and friends, With the 10th Rare Disease Day on 28 February 2017 reaching a truly global scale with events in over 90 countries, the global rare disease community wishes to celebrate another very significant date, 11 November 2016, which marked the official launch …
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Tweet from @cjddocumentary

Funding for Disease research will drastically reduced and rare diseases will surely be hardest hit. We need NIH funding. #cureCJD https://t.co/vbCKcMPVPj
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Therapy using stem cells, bone marrow cells, appears safe for patients with ischemic cardiomyopathy

Therapy using stem cells, bone marrow cells, appears safe for patients with ischemic cardiomyopathy | LTs Tracks 4 Xtreme | Scoop.it
Alan W. Heldman, M.D., of the University of Miami Miller School of Medicine, and colleagues conducted a study to examine the safety of transendocardial stem cell injection with autologous mesenchymal stem cells and bone marrow mononuclear cells in...

Via Richard D. Hammer, M.D.
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Richard D. Hammer, M.D.'s curator insight, December 12, 2013 3:41 PM

Another study proving safety of stem cell treatments.

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(EN) - Genetics Glossary | Genetics Home Reference

(EN) - Genetics Glossary | Genetics Home Reference | LTs Tracks 4 Xtreme | Scoop.it

"Genetics Home Reference obtains definitions from several sources.

Unified Medical Language SystemThis link leads to a site outside Genetics Home Reference. at the National Library of Medicine
Office of Rare DiseasesThis link leads to a site outside Genetics Home Reference. at the National Institutes of Health
Human Genome Project InformationThis link leads to a site outside Genetics Home Reference. at the U.S. Department of Energy
Merriam-Webster's Medical DictionaryThis link leads to a site outside Genetics Home Reference. by Merriam-Webster Inc.
GeneReviewsThis link leads to a site outside Genetics Home Reference. from the University of Washington and the National Center for Biotechnology Information
Dictionary of Cancer TermsThis link leads to a site outside Genetics Home Reference. from the National Cancer Institute
Talking Glossary of Genetic TermsThis link leads to a site outside Genetics Home Reference. from the National Human Genome Research Institute"


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Genetics 101 - Leslie Lysosome and Alec Baldwin tell it like it is.

That little organelle, the lysosome, is responsible for so many things in our body. It is the root cause of many common medical issues, such as mental retard...
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Mommy Page Birth Defect: Tetralogy of Fallot :

Mommy Page Birth Defect: Tetralogy of Fallot : | LTs Tracks 4 Xtreme | Scoop.it
Tetralogy of Fallot (te – tra – lo – je of fah – low) is a congenital heart defect – a heart defect that is present at birth – and occurs in approximately 5 out of every 10000 babies. It is the most common heart defect in children.
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Through Social Media, Family Connects to Rare Diagnosis – And Hope

Through Social Media, Family Connects to Rare Diagnosis – And Hope | LTs Tracks 4 Xtreme | Scoop.it

If you are suffering from an illness fewer than a dozen people in the world are known to have, getting a proper diagnosis can start to feel like a hunt for something that doesn’t exist.

That’s the position one family found themselves in before they turned to social media in search of an answer, managing to discover in one day an answer that had eluded doctors for years.

‘These days there are ribbons and awareness weeks for so many diseases, but when yours is ultra-rare, you feel completely isolated. You feel like you’re never going to hear another person say, ‘Us too!’ And being connected to other families changes all that.’ Bo Bigelow

It’s a story that illustrates the power of crowdsourcing. Tess Bigelow, six years old, became the eighth person in the world known to have a mutation of the gene called USP7. This defective gene could be the reason she functions at the level of an 18-month-old child, with developmental delays in basic functions such as walking and talking.

Last August, Bo Bigelow, Tess’ father, put up a website about his daughter’s genetic mutation then posted it to Facebook and Twitter. From apress release about the case sent out last September by Baylor College of Medicine in Houston:

“Help us find others like Tess.” Bo Bigelow’s plea jumps off the page of his blog, echoing across the continent from his leafy green home city of Portland, Maine.

When he posted his call to action, all he knew was that his young daughter has a mutation in her USP7 gene and that she has global developmental delay, hip dysplasia and visual impairment caused by her brain (not a problem in her eyes themselves) among other health issues.

Bo and his wife, Kate, who live in Maine, hoped to find other families affected by the same mutation.

“We thought we were embarking on this months- or years-long odyssey to find at least one other person,” says Bo Bigelow. “And instead, by that evening we were on the horn with Baylor. They found us in less than 24 hours, and it’s from people being so great about spreading it and having their friends spread it.”

It was a friend of Bigelow’s brother-in-law who posted Tess’ case on Reddit. That’s where a worker at a Baylor lab spotted it — a lab that is one of the few in the world studying USP7.


Tess walked 100 meters this spring in the Special Olympics. She needed some help staying in her lane, and had to stop to gather her stamina, but crossed the finish line to the cheers of her family. Her father did a podcast episode about the event. (Bo Bigelow/Facebook)

Most striking of all, Bigelow says, that first email from Mike Fountain, a predoctoral fellow in the lab, said the Baylor team had identified other families who had children affected by the same genetic mutation. Just connecting with them has eased Bo and Kate’s worries.

“These days there are ribbons and awareness-weeks for so many diseases,” Bigelow says, “but when yours is ultra-rare, you feel completely isolated. You feel like you’re never going to hear another person say, ‘Us too!’ And being connected to other families changes all that.”

Fountain’s colleague, researcher and Baylor genetics professor Christian Schaaf, had already found seven children around the world with USP7 mutations and symptoms similar to Tess’. Schaaf and 18 of his colleagues were getting ready to publish research in the journal Molecular Cell describing how USP7 becomes a “disease gene.”

USP7 and two other genes are critical in the process of recycling and breaking down the proteins in a cell that are no longer of use. This process keeps all the work of our cells in balance; when it’s out of whack, it can lead to cancers, neurodegenerative diseases or genetic disorders.

Bigelow says the family doesn’t yet have official confirmation that Tess’ symptoms are caused by her genetic mutation. Baylor researchers are examining that now and he expects to hear soon whether the lab will accept her for inclusion in potential treatments, now in development. Meanwhile, he says, Baylor asked him to use his website and social media skills to search out other families, and he’s found two more who have children with a USP7 mutation.

Crowdsourcing Diagnoses Takes Hold

Patients or parents like Tess’ who are seeking answers to seemingly unsolvable medical mysteries have new tools to reach out, not only on social media, but in crowdsourcing websites like CrowdMed, a subscription service for people seeking answers to medical conundrums.

At CrowdMed, people who have symptoms but have yet to find a diagnosis seek opinions from the site’s “medical detectives,” only some of whom are medical professionals.

The process involves patients posting their symptoms and other relevant data, opening their case up to the site’s diagnostic community. When a diagnosis is offered, the other “detectives” vote on it, and that opinion moves up or down according to those votes and the weight assigned to each diagnostician, which is determined by their past accuracy.

“We call it a stock market for diagnoses,” CrowdMed co-founder Jessica Greenwalt told Future of You editor Jon Brooks at a University of San Francisco medical technology conference in March.

She said the site had resolved close to 800 cases in which the patient has reported the CrowdMed diagnosis was correct.

“The nice thing about not limiting it to physicians,” Greenwalt said, “is we get people who are not stuck in the same method of thought training. Or they’re not afraid to suggest the rare diagnosis. We see this a lot, where doctors are afraid to say it might be this rare condition.”

A writer who reviewed CrowdMed for Elle discovered one of the common pitfalls of self-diagnosis: worrying about a range of diseases she’d never heard of. But she also wrote she felt encouraged to do research about her health and supported by the care people offered in listening to and responding to her case.

“While reporting this piece,” wrote Molly Langmuir, “I vacillated between viewing CrowdMed as a dire indictment of our medical system—things are so bad we’ve had to turn to a bunch of strangers who may or may not have had medical training—and a heartening sign of progress, a surprisingly effective way of putting the ‘care’ back into health

MyGene2 is another crowdsourcing site. It serves as an information hub where those with rare genetic disorders can share information, and researchers and clinicians working with a particular condition or gene can contact people who may benefit from new treatments or ideas.

The site just went live this spring and already features more than 100 families and 87 different problematic genes.


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You Can Now Search Worldwide Genomic Data in a Single Platform

You Can Now Search Worldwide Genomic Data in a Single Platform | LTs Tracks 4 Xtreme | Scoop.it
The European Biotech News Website

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Diabetes-Thyroid Alert: Is There a Connection?

Diabetes-Thyroid Alert: Is There a Connection? | LTs Tracks 4 Xtreme | Scoop.it
Many people today suffer from diabetes, but most of them don't understand how the thyroid may be connected to the condition. Find ou
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If Your Child Has a Heart Defect

If Your Child Has a Heart Defect | LTs Tracks 4 Xtreme | Scoop.it
Congenital heart defects are relatively common, affecting almost 1 in every 100 newborns in the United States.
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Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases | Home page | LTs Tracks 4 Xtreme | Scoop.it
Orphanet Journal of Rare Diseases | Home page Articles Recent Most accessed Recent articles RSS REVIEW Disease manifestations an
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.@RareDiseases kicks off #RareDiseaseDay with announcement of yearlong public awareness campaign

.@RareDiseases kicks off #RareDiseaseDay with announcement of yearlong public awareness campaign | LTs Tracks 4 Xtreme | Scoop.it
The National Organization for Rare Disorders has announced a new, yearlong campaign to raise public awareness of rare diseases. “Do Your Share for Rare” shines a light on people living with a rare disease and provides an opportunity for them to share their story.
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WCVB-TV Boston: Family Fights to Find Cure for Daughter's Rare Disease - Cure CMT4J

WCVB-TV Boston: Family Fights to Find Cure for Daughter's Rare Disease - Cure CMT4J | LTs Tracks 4 Xtreme | Scoop.it
Boston’s ABC affiliate WCVB covered Talia’s fight against CMT4J in a story that aired on March 1st and 2nd … watch it below and be sure to share this page with your friends and family! Share this Post
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Struggle to fight ultra-rare diseases made more difficult | Delhi Informer

Struggle to fight ultra-rare diseases made more difficult | Delhi Informer | LTs Tracks 4 Xtreme | Scoop.it
Medicines for Lysosomal Storage Disorders have to be taken life-long, but are extremely expensive and not available easily Read the full Delhi News here
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Rare and Undiagnosed Network | Genome Sequencing

Rare and Undiagnosed Network | Genome Sequencing | LTs Tracks 4 Xtreme | Scoop.it
To empower rare & undiagnosed patients and their families with genomic information and community through advocacy, networking and support.
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Exome sequencing gets to the root of rare diseases

Exome sequencing gets to the root of rare diseases | LTs Tracks 4 Xtreme | Scoop.it

Sequencing the protein-coding portion of the genome has helped diagnose the cause of rare disorders and could even predict diseases.

 

IT'S not quite the long-heralded $1000 genome, but it is getting close. For the first time, doctors have begun rolling out large-scale sequencing of the protein-coding portion of people's genome. This could help to identify the causes of conditions such as congenital deafness and some learning disabilities. More common diseases are expected to follow. The hope is that such sequencing will improve treatments, determine how a person might respond to a drug and possibly even predict disease before it starts.

 

In an ideal world, people's entire genomes would be mapped to find a potential root cause of a particular disease, but that is very expensive and the technology isn't ready for the clinic. Instead, doctors are turning to the exome - the 1.5 per cent of the genome that encodes proteins. Sequencing takes about 10 days, and some companies already offer it for just $1000.

 

Last year, a clinic in the Netherlands became the first to start offering clinical exome sequencing to people on a large scale. So far they have examined 262 exomes from people with conditions including intellectual disabilities, blindness and cancer. They were able to match a genetic cause to a diagnosis in about half of the cases of blindness, and in 15 to 25 per cent of the other diseases studied.


Via Dr. Stefan Gruenwald
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Our Website Addy and Contact Information

Our Website Addy and Contact Information | LTs Tracks 4 Xtreme | Scoop.it

If you would like to find out more information on Undiagnosed/Rare Disorders & Congenital Heart Defect/s and how to help you can visit our main site  

 

LT's Tracks 4 Xtreme aka lt4xtreme
http://lt4swanchd.wixsite.com/lt4xtreme

 

Within Our Website  you can click into all sorts of listed awareness sites and Mine and My Sons'(Timothy) Stories and Symptomology.....

 

You can contact me at                                               

lt4swanchd@yahoo.com or ltxtreme@yahoo.com                    

 

L.T.'s site is not intended for Medical Advice. Do not use this site for the diagnosis and or treatment of a Patient. Please contact your family doctor for further information and direction... THANK YOU!!!

Laura C./Special Needs Xtreme(aka lt4swanchd)

PLEASE NOTE;   OUR SCOOP IT SITE IS STILL UNDER CONSTRUCTION..STAY TUNED FOR MORE INFO...

 

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Implementing Critical Congenital Heart Disease Screening Policies

Implementing Critical Congenital Heart Disease Screening Policies | LTs Tracks 4 Xtreme | Scoop.it
According to the Centers for Disease Control and Prevention, it has been estimated that at least 280 infants with unrecognized critical congenital heart defects (CCHD) are discharged each year from newborn nurseries in the ...
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