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Of Mice & Men’s Austin Carlile to have more surgery because of Marfan Syndrome- Term life

Austin Carlile, lead singer Of Mice & Men

Of Mice & Men frontman, Austin Carlile, has revealed he’ll be having further surgery to help him with his ongoing battle with Marfan Syndrome.

The condition is genetic and affects the tissue which holds all the body’s cells and organs together, causing limbs to be abnormally long.

The singer was answering a fan on Twitter asking for tips for undergoing major surgery.

That’s when he revealed that he had more surgery planned for himself.

If I can do it, so can you! I’m also having surgery soon. Hip & back. #MarfanSyndrome

The 28-year-old was admitted to hospital earlier this year after suffering a heart problem caused by the syndrome.

As a result the band had to cancel two of the last dates of their Full Circle Tour earlier this year.

People with Marfan syndrome are often very tall, thin, loose jointed and they may have problems with the heart and blood vessels causing them to have shortness of breath and fatigue.

Austin Carlile, lead singer Of Mice & Men

There’s currently no cure for Marfan syndrome, so treatment focuses on managing the symptoms and reducing the risk of complications.

Although the disorder is rare, it still affects about one in 3,000 people in the UK and is one of the most common connective tissue disorders.

Deerhunter guitarist Bradford Cox also suffers with the condition.

It seems Austin hasn’t had much luck this year. The singer has already had to have multiple surgeries this year to help him continue to combat the disorder.

Living with #MarfanSyndrome isn’t easy. Thankfully I have music & love/support from all of you. Couldn’t battle daily without both x

Then earlier this year while rehearsing in the studio, he was electrocuted by his microphone.

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easy-sugar-free-peanut-butter-fudge

EASY SUGAR FREE PEANUT BUTTER FUDGE- Best Weight Loss Program

Protein powder makes this easy sugar free peanut butter fudge a filling treat. It’s a great low carb snack to take along to curb your hunger between meals.

Easy sugar free peanut butter fudge

While on vacation last week, we drove by a lot of small candy stores advertising fudge. I knew that I was going to have to make a batch of low carb fudge when I got home.

Searching the internet, there were only a few low carb peanut butter fudge recipes that looked promising. I found an easy sugar free peanut butter fudge recipe at Low Carb Friends. It  got great reviews in the recipe forum. So, I decided to give it a try.

I used sucralose as the sweetener, but I’d probably use a stevia blend next time. I’m moving towards more natural sweeteners. Using a combination of sweeteners in low carb treats also gives a much better flavor.

This is such an easy sugar free peanut butter fudge recipe to make. It has a nice texture and isn’t overly sweet. I chose to use the liquid sweetener to save carbs. Each serving has about 4 grams of carbs if you use the liquid versus powdered version of sucralose.

UPDATE: A new version of this easy sugar free peanut butter fudge recipe is available for those who like peanut butter cups. I added a layer of chocolate to the top of the fudge and it tastes just like a Reese’s Peanut Butter Cup. Click here to check out my low carb peanut butter cup squares recipe.

EASY SUGAR FREE PEANUT BUTTER FUDGE RECIPE

Easy sugar free peanut butter fudge

PROTEIN PACKED PEANUT BUTTER FUDGE
Author: Lisa
SAVE PRINT
Protein powder makes this easy sugar free peanut butter fudge a filling treat. It’s a great low carb snack to take along to curb your hunger between meals.
INGREDIENTS
  • 1/2 cup butter
  • 1/2 cup natural peanut butter
  • 2 ounces cream cheese, softened
  • 1 cup granular Splenda or equivalent liquid sucralose
  • 2/3 cup low carb whey protein powder, vanilla flavor
INSTRUCTIONS
  1. Melt the butter and peanut butter together in the microwave for about a minute; whisk well.
  2. Whisk in the cream cheese until well blended and smooth.
  3. Add the Splenda and the protein powder and mix well.
  4. Line a 7 x 5 inch baking dish or 8 x 4 inch loaf pan with wax paper.
  5. Spread the fudge mixture in the pan and chill until set.
  6. Cut into 10 squares.
  7. Store in the refrigerator or freeze.
NOTES
Carbs per serving:

6 g (granular Splenda), 4 g (liquid Splenda)

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hydrocephalus

3-Year-Old with Severe Hydrocephalus Miraculously Survived Surgery- Term life

3-year-old Roona Begum,of Tripura, Western India, smiled for the first time. She underwent a surgery that reduced the circumference of her head. It went from 37 inches to 23 inches. The young girl suffered from hydrocephalus.

Sometime ago, Roona was rushed to a hospital in New Delhi, India. Operations were done to reduce the size of her head, but she was eventually sent home. Everyone, including her doctors, thought that she had little chance to survive.

Hydrocephalus Miraculously Survived Surgery
Source: Barcroft Media

Recently, medics were surprised to find out that the young girl is alive and is able to laugh and smile. She also noticeably gained weight. Roona was taken to the Fortis Memorial Research Institute and Hospital. Her parents cannot afford the medical bill.

Then, images of Roona went viral on the Internet. She gained sympathy from all over the world and the hospital treated her for free.

Fatima Khatun, Roona’s mother, said that her daughter is now able to keep her head straight. She added that her daughter is able to move it from side to side. The young girl is also able to respond to other children. Still, she is not yet able to talk and standlike her peers.

Hydrocephalus Miraculously Survived Surgery
Source: Dailymail.co.uk

Due to the impressive results, doctors wanted to perform another operation on Roona. Even so, the girl’s parents are hesitant. They say that they worry about the risks involved. They would only agree with the operation if the surgeons can guarantee a normal life for Roona. Otherwise, they would rather have her as she is.

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Stroke survivors walk again after Stanford injects stem cells into brain- Term life

Stem cell injections have allowed stroke patients to walk again 

Stroke survivors who believed they would be paralysed or need a wheelchair for the rest of their lives are walking and moving again following a ground-breaking stem cell treatment.

18 patients who agreed to allow doctors to drill a hole in their skull and inject stem cells into the damaged part of their brain have made a ‘remarkable’ recovery.

Incredibly, it worked for patients whose strokes had occurred between six months and three years previously. Historically doctors have believed that the brain will no longer regenerate after six months.

Patients who were in wheelchairs are walking now. Their ability to move around has recovered visibly. That’s unprecedented.Prof Gary Steinberg

But the new therapy essentially turns the adult brain back to an infant brain so that it can rebuild itself.

Scientists at Stanford University School of Medicine believe the therapy could also work for other neurodegenerative conditions such as Alzheimer’s disease, Parkinson’s and Lou Gehrig’s Disease.

“The remarkable recovery we saw in many of these chronic stroke patients was quite surprising,” said Prof Gary Steinberg, Chair of Neurosurgery at Stanford, who has spent 15 years researching stem cells.

“This wasn’t just ‘they couldn’t move their thumb and now they can’. Patients who were in wheelchairs are walking now. Their ability to move around has recovered visibly. That’s unprecedented.

“The study changes our prior notion that patients can’t recover much more after the first six months following a stroke because the circuits are dead, or irreversibly damaged.

“Clearly the circuits can be resurrected by this treatment and we are still investigating how they are being jump-started.”

The stem cells in question were taken from the bone marrow of two donors. Scientists had previously believed that stem cells could not integrate into the brain to become neurons. But it now appears they secrete powerful chemicals for growth and regeneration which the brain can use to restore function.

“In a simple sense, the stem cell transplant turns the adult brain in a neonatal of infant brain which recovers well after a stroke or other injury,” added Prof Steinberg.

Prof Gary Steinberg 
Prof Gary Steinberg  CREDIT: STANFORD UNIVERSITY 

“This could revolutionise our concept of what happens after no only stroke but traumatic brain injury and ever neurodegenerative disorders. We thought these brain circuits were dead and we’ve learned that they’re not.”

All the patients involved in the trial had suffered ischemic strokes where a clot prevents blood getting to the brain, which leads to brain cell death. The procedure involved drilling a small hole in the skull above the damaged area so that SB623 stem cells could be injected at several spots around the edge of the injury.

The patients, who had an average age of 61,  only needed a local anaesthetic and were sent home the following day. Although many complained of initial headaches, because of the surgical procedure, there were no long-term side-effects.

Afterwards they were monitored with blood tests, clinical evaluations and brain imaging. Intriguingly the implanted stem cells do not survive very long in the brain, but recovery continued even after they had vanished.

There was an overall 11.4 point improvement on the Fugl-Meyer test, which gauges how well stoke pateints can move and there has been no relapse since the injection,n which was carried out up to two years ago.

Stem cells are thought to be the future of medicine because they can transform into any cell in the body depending on where they are placed.

Around 125,000 people in Britain suffer an ischemic stroke each year. Although therapies exist to prevent further damage they must be administered within four and a half hours of the event to break down blood clots and many patients do not receive treatment until it is too late and the damage has been done.

A stroke patient 
Stroke patients who were forced to use wheelchairs are working again  CREDIT: GETTY

Charities said the new treatment could help fill the ‘urgent need’ for alternative treatments for stroke.

Dr Shamim Qadir, Research Communications Manager at the Stroke Assoication said: “In the UK someone has a stroke every three and a half minute and over half of all stroke survivors are left with a disability.

“There is an urgent need for alternative treatments. This trial adds to a growing body of early clinical evidence suggesting stem cell treatment could promote recover in people months, and even years after having a stroke. This is positive development and brings much needed hope for the many people living with disability. We look forward to the results of the Phase II trial which could tell us much more about this type of stem cell treatment.

“Although it is still early days these findings could potentially lead to life changing treatments for stroke patients in the future.”

The Stanford team is now moving to a phase-2 trial of 153 (check) patients to see if the results can be replicated.

“We are also starting a trial with the same cells transplanted into the brain for patients with chronic traumatic brain injury and neurologic deficits. In the future it may also work for degenerative neurologic conditions like Parkinson’s disease, ALS (Lou Gehrig’s Disease), or even Alzheimer’s.”

A thermal image of the brain

85%

The percentage of strokes that are Ischaemic – i.e. caused by a clot, or blockage cutting off the blood supply to the brain

15%

The percentage of strokes that are haemorrahagic – i.e. caused by a blood vessel bursting within, or on, the surface of the brain. The damage can be greater than those caused by a clot because the blood leaks out into the brain tissue at a high pressure

1.2 million

The number of stroke survivors in the UK

12.5%

The percentage of stroke survivors who die within 30 days

50%

The percentage of stroke survivors who have a disability as a result

£48

The amount spent on medical research per stroke patient every year, compared to £241 per cancer patient

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Throat disease eosinophilic esophagitis (EoE) affecting more kids- Term life

Jack Weiss, 11, of Suffern has EOE, a severe food allergy that affects the esophogus. He has started a facebook page as a support group and to raise awareness. (Video by Peter Carr/The Journal News)

Eosinophilic esophagitis (EoE) is a chronic allergic inflammatory disease of the esophagus. Cases have risen dramatically in the past 20 years, say doctors, and there remains no cure for the disease.

Most people have never heard of the disease that runs Jack Weiss’ life.

But eosinophilic esophagitis (EoE) is on the rise, say doctors — and many children and adults have no idea they’ve got it. Left untreated, the condition can lead to narrowing of the esophagus and severe difficulties swallowing. Treatment options vary, but there exists no cure.

“Everybody knows about Lyme disease and celiac disease, but they’re totally blindsided when you bring this up,” says Dr. Howard Bostwick, a pediatric gastroenterologist with Children’s and Women’s Physicians of Westchester. “It’s become probably one of the major diagnoses we make.”

Symptoms of EoE can include throat pain, abdominal pain, vomiting and trouble swallowing, according to the Cincinnati Center for Eosinophilic Disorders, one of the nation’s few research centers devoted exclusively to the condition. Young children with the disease may have slow or poor growth. Adolescents who are undiagnosed may suddenly have food impacted in the esophagus.

Regurgitation and reflux-like symptoms are also common in children, says Bostwick.

Jack, who lives in Suffern, found out he had EoE three years ago, when he was 8, after he started getting stomach aches and throat pain at summer camp. “I was thinking it was in my head, but my allergist and the GI doctor said to take an endoscopy, and that’s how they diagnosed me,” he says.

The condition, a chronic allergic inflammatory disease of the esophagus, is caused by an overgrowth of white blood cells called eosinophils. Most who are diagnosed with EoE must dramatically alter their eating habits or risk causing permanent damage.

“You take a 14-year-old boy who’s eating, and all of sudden the food sticks and he becomes completely unable to swallow it,” says Bostwick. “Overwhelmingly, when this happens to a child of this age and we investigate it, they turn out to have eosinophilic esophagitis.”

While Jack’s family was aware of his peanut allergy, finding out he also had EoE opened up a dark new world. “I was hopeful the diagnosis could put us on the road to recovery, so he would feel better,” says Alyssa Weiss, Jack’s mother. “But I was devastated to find out this may be a lifelong battle for him.”

Alyssa began researching treatment options for Jack, and learned the choices were limited. Children with EoE are sometimes put on feeding tubes. Others need to drink an elemental amino acid formula that tastes so terrible, many can’t get it down. Some are treated with steroids.

Ellyn Kodroff, the president of CURED (Campaign Urging Research for Eosinophilic Diseases), first learned about EoE when her daughter, Jori, was diagnosed in 2003 at the age of 11. At the time, doctors told the family that 1 in 10,000 had the conditon. Now it’s up to 1 in 1,000, she says.

Bostwick says the reason for the rise in cases of EoE remains unclear. But the toll it takes on patients and families is profound, says Kodroff.

At 14, Jori had to go on formula and stop eating all food. Now, at 22, she is able to eat only six things: apples, pears, bananas, shrimp, broccoli, potatoes and lettuce. She has been on steroids for 10 years.

Alyssa didn’t want Jack to go the steroid route. So, with the help of an allergist and a gastroenterologist, he started an elimination diet that omitted foods believed to provoke an allergic reaction. Since his diagnosis, he’s had an endoscopy every two to three months and is responding well to his current diet, which allows for about 20 foods, including corn, bananas, raspberries, chicken and rice.

The severe food restrictions means Jack can’t go to restaurants. Birthday parties are difficult. And family trips require extensive planning.

But Jack considers himself lucky. He’s feeling better, he’s not on steroids, he’s doing well in school and he’s kicked off a fundraising campaign through his own Facebook page, Allergy Island, aimed at raising awareness of EoE.

So far, he’s gotten more than 1,000 likes — and his original dance, the Allergy Island shuffle, is finding people jumping around on camera in hopes of helping Jack spread the word. He’d like to see the dance go viral, the way the ice-bucket challenge put the spotlight on ALS.

“If I’m able to raise awareness and donations, bring us closer to a cure or make even a 1 percent difference, then I couldn’t ask for more,” he says.

Kodroff, whose foundation is the primary source of funding for EoE research, says Jack’s attitude is extraordinary. But for this 11-year-old, it’s just a matter of looking on the bright side.

“Everything happens for a reason,” he says. “If I could make one person feel less alone in this, one school more conscious of how they treat students with allergies, or help one person get answers, then I’ll be happy.”

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Addisons-Disease-736x1096

15 Facts About Addisons Disease- Term life

Addisons Disease

Addisons Disease is a serious and life threatening illness where the Adrenal glands fail to function resulting in insufficient amounts of Cortisol and Aldosterone in the body. Here are 15 facts about Addisons Disease to help you better understand the condition.

One

Addison’s disease is not usually diagnosed until at least 90% of the adrenal cortex has been destroyed. This can take months or years and is often referred to as primary adrenal insufficiency.

Two

Some of the symptoms of of Addisons Disease include severe fatigue and weakness, loss of weight, pigmentation of the skin, dizzyness and low blood pressure, nausea, vomiting, salt cravings, painful muscles and joints.

Three

Addisons Disease was first identified in the UK in 1855. The condition is named after Thomas Addison a doctor who first wrote about the illness whilst working at Guys Hospital in London.

Four

People with Addisons Disease are steroid dependent. This means they are reliant upon taking cortisol medication every day. Cortisol is the “stress hormone” and without it the body would go into adrenal crisis and eventually die.

Five

If you have Addisons, you will also need to take a medication called Fludrocortisone. This is prescribed to replace the aldosterone steroid normally produced by the adrenal glands. Without Aldosterone in the body their would be an electrolyte imbalance leading to low blood pressure and dehydration.

Six

People on steroid replacement therapy will need to stress dose during times of illness such as infection, high temperature and fever. Addisons patients will need to be aware of their wellbeing and any illness will need to be compensated to prevent Adrenal crisis.

Seven

When someone with Addisons exercise in a way that is more physically demanding than usual, they will need to take a little extra steroid medication beforehand to help the body cope with the added stress.

Eight

Often sudden shocks such as being in a car crash, learning of the death of a loved one or a big argument can result in a need to increase Steroid coverage. Additional emotional stress can clear cortisol faster than usual and make an Addisons patient very unwell.

Nine

Addisons Patients will always need extra steroid coverage during dental procedures, operations and certain hospital tests which place more than usual stress on the body.

Ten

Often when low in cortisol, patients with Addisons disease can develop brain fog and poor concentration levels. This can affect the ability to work out what medication is needed. Therefore it is important to always wear a medic alert band.

Eleven

Addisons patients will need to carry an emergency injection with them in case of sudden adrenal crisis. The emergency injection can be life saving. Many patients have died from adrenal crisis and the condition should be taken serious and can be life threatening.

Twelve

If someone with Addisons has prolonged vomiting due to an illness or stomach bug, they will need an emergency injection and immediate hospital treatment.

Thirteen

Some Addisonians will need to increase their fludrocortisone medication when on holiday  or under extreme temperature climbs around 30˚ Celsius. this will help to avoid dehydrations and becoming dangerously unwell.

Fourteen

Too much steroid coverage on a regular basis can result in Cushing’s Disease, weight gain, bone problems, diabetes and a moon shaped face. it is important for a patient to be on the correct dose so as to ensure they are not under or over replaced as both not enough and too much cortisol can have serious consequences.

Fifteen

Many people have not heard of Addisons and it is not always familiar to some doctors or medical staff. It is always a good idea to carry a letter about the illness incase of emergency and just incase the people treating the illness do not understand the importance of emergency cortisol replacement.

I hope these 15 facts are useful and helpful. Please do share this post to help spread the word and awareness for Addisons Disease and Adrenal Insufficiency.

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15 Things All Hypermobile People Want You To Know- Term life

1. First things first, the phrase “double-jointed” is inaccurate — it actually has to do with loose ligaments.

First things first, the phrase "double-jointed" is inaccurate — it actually has to do with loose ligaments.

freefaller25 / Wikimedia Commons / Via commons.wikimedia.org

The medical term is hypermobility or laxity (looseness) of the joint, which means the joint can move beyond a normal range of motion, says Dr. Jonathan Vigdorchik, professor of orthopedic surgery at NYU Langone Medical Center.

Three things determine a joint’s range of motion: bone stability (how the joint sockets fit together), ligaments and tendons (the connective tissue wrapping around the joint to hold it in place), and the surrounding muscles (that keep your joint aligned when you move).

Hypermobility can be associated with a range of medical conditions (more on some of those in a sec) or it can just be something random that your body does occasionally. It’s usually caused by loose ligaments and tendons that don’t properly connect the joint, says Dr. Jennifer Hand, medical geneticist and dermatologist at the Mayo Clinic. That looseness can be from a defect in connective tissue, or from repeated extension and contortion of the body in a way that stretches the ligaments.

2. It’s totally normal to have a hypermobile joint here and there, especially in the hands.

It's totally normal to have a hypermobile joint here and there, especially in the hands.

Instagram: @misswolter / Via instagram.com

Having a bendy finger or two is super common since the hand is full of joints and ligaments. Something like that, or a random backwards-bending elbow, is called localized hypermobility, meaning it’s specific to one joint. This happens when specific ligaments happen to be loose or the bone is abnormal, says Vigdorchik.

You might also develop hypermobile joints from putting unique stress on them at young age when those bones are still forming (like a baseball pitcher’s throwing shoulder) or if an injury causes them to heal in a weird way.

3. But some people have generalized joint hypermobility, which means they’re bendy and “double-jointed” all over.

But some people have generalized joint hypermobility, which means they're bendy and "double-jointed" all over.

Freefaller25 / Via commons.wikimedia.org

Generalized hypermobility means that many joints in the body can move beyond the normal range of motion due to an overall looseness in ligaments. Exactly which and how many major joints are affected — the hips, shoulders, or knees — and the severity of associated joint problems varies by person, Vigdorchik says.

“A lot of people with generalized hypermobility don’t even notice until they’re adults and they start to have joint pain,” he says. It’s more common in women than men, says Hand, but doctors don’t have enough research to explain why gender is such a big factor.

4. A doctor can actually diagnose this with special flexibility tests.

A doctor can actually diagnose this with special flexibility tests.

Ehler-Danlos National Foundation / Via ednf.org

You don’t need to see a doctor if you are hypermobile, but if you’ve had dislocations and joint pain or you’re super bendy and just want to know what’s up, you can see a doctor to test for it. They’ll perform series of tests to assess the mobility of the joints on a 9-point scale called the Beighton score.

“You get one point for each pinky finger, elbow, knee, shoulder, etc.,” Vigorchik says. Basically, it’s an easy way for doctors to diagnose hypermobility without genetic testing for a related disorder. You have to score at least a 5 to have generalized hypermobility, says Hand, but from there, the looseness of your joints is on a spectrum and can range from moderate to severe.

5. In some cases, having flexible joints all over can be a symptom of a more serious genetic disorder that affects the connective tissue.

In some cases, having flexible joints all over can be a symptom of a more serious genetic disorder that affects the connective tissue.

US-D, MedPix Medical Image Database, Wikimedia Commons / Via commons.wikimedia.org

When generalized hypermobility comes with a lot of other symptoms, it’s usually associated with the following:
Ehlers-Danlos syndrome (EDS)
Marfan syndrome
Postural orthostatic tachycardia syndrome (POTS)

People with EDS or Marfans can experience a range of other serious symptoms because these disorders cause a defect in all the connective tissue in the body, which includes not only the ligaments around joints but also the blood vessels, aorta, eyes, internal organs, and skin. So along with bendy joints, people can have fatal and disabling symptoms like aortic rupture or cataracts. POTS is an autonomic disorder also seen in hypermobile patients, says Vigdorchik, and it affects pulse and blood pressure, so patients often feel light-headed and fatigued. These definitely aren’t the only disorders to be associated with hypermobility, but they’re a few of the most common ones.

6. Ehlers-Danlos syndrome, one of the most common causes of severe hypermobility, can range from mild to fatal.

Ehlers-Danlos syndrome, one of the most common causes of severe hypermobility, can range from mild to fatal.

Veronica Foale CC BY-NC-ND / Via Flickr: sleeplessnights

EDS is actually a group of disorders caused by a defect in collagen, a connective tissue that supports your joints, skin, blood vessels, and other organs. There are six different subtypes, and most (but not all) include hypermobility.

“People with EDS tend to have the hypermobility but also chronic pain, a history of sprains and dislocations, skin elasticity [pictured above], scars and bruising, bowel problems, and blood vessel ruptures depending on their subtype,” says Hand. And there’s a lot of variation in the subtypes. One subtype, “hypermobility type,” can just make you super bendy with minor joint pain, while another can cause serious issues like aneurysms. Fortunately, there’s genetic testing that can determine which type of EDS you have.

7. But you can also just be a super-hypermobile, bendy person.

But you can also just be a super-hypermobile, bendy person.

imgur.com / Via imgur.com

Technically it’s called benign joint hypermobility syndrome, but recently doctors havere-classified it under Ehlers-Danlos hypermobility type, since they are so similar.

Hypermobility syndrome (for short) is diagnosed when, in addition to generalized hypermobility, people have discomfort, joint injuries, or pain for more than 12 weeks and genetic disorders have been ruled out. It’s a spectrum disorder, says Vigdorchik, so it ranges from mild to severe joint extensibility and musculoskeletal symptoms. “Some people are just really good at yoga and contortion acts — and it doesn’t hurt them, because they’re on the end of spectrum with few other symptoms,” Vigdorchik says.

8. With severe hypermobility, activities like walking and exercising can cause serious injury.

Youtube user exwrestlter125 / Via youtube.com

When bigger joints like the shoulder socket or hips and knees move around a lot, it can become super uncomfortable to do normal things like walking and carrying objects. For example, if a hypermobile person runs, the kneecaps can slide back and forth and grind down on the cartilage because the ligaments in the knees are too loose to keep the kneecap joint in its groove, Vigdorchik says.

It’s common to have tears, sprains, dislocations, and overuse injuries from severe hypermobility. These can require anything from simple physical therapy and rest to surgeries like hip replacements. Many patients with EDS struggle with chronic pain and disabilities because of recurring injuries.

9. And it can actually be annoying and painful to be able to dislocate your joints.

mdumont10 / Wikimedia commons / Via commons.wikimedia.org

GE Malone / Wikicommons / Viacommons.wikimedia.org

A lot of hypermobile people can easily dislocate their joints and pop them back in place. If the joint is super loose and dislocations happen regularly, it might not hurt much, but it can also be just as painful as a dislocation is for anyone without hypermobility.

“A hypermobile person’s shoulder joint can dislocate from just reaching your arms behind your back to fasten a bra,” Vigdorchik says. So in many cases, it’s unintentional and pretty annoying. Not all joints can be easily popped back into place, so it can actually wind up costing you a ton in trips to the ER for a doctor to relocate and align your joints.

10. So those “party tricks” can hurt you.

So those "party tricks" can hurt you.

imgur.com / Via reddit.com

If you’re born super bendy, it might seem fun to wow people with crazy party tricks and weird contortion acts. In many cases of hypermobility, these tricks can be harmless and actually give people an advantage in things like gymnastics or ballet, Vigdorchik says. But since the joint is already unstable, over time these weird movements can stress the ligaments and tissues and cause painful injuries. So even if your hypermobility isn’t severe, if you’ve had any pain or joint problems, it’s smart to avoid this.

The experts warn against doing any weird joint tricks if you have a serious form of EDS or Marfans, because it’s more likely to result in injury. “It also really depends on the person and the limits of their body, but it’s always better to be cautious,” Hand says.

11. If you do end up injuring yourself or just dislocate often, you might want to try physical therapy.

If you do end up injuring yourself or just dislocate often, you might want to try physical therapy.

Instagram: @businessinsider / Via instagram.com

People often notice their symptoms after exercising, Vigdorchik says, because they get injured due to the lack of stability in the joints. But hypermobile people shouldn’t be discouraged from exercise — they just might need to meet with a physical therapist and take extra steps to avoid further problems.

The experts say that you can somewhat overcome loose ligaments by doing specific isometric exercises to strengthen the muscles around the joint to keep it super stable — especially in the knees and hips. Even hypermobile-friendly exercises like yoga can put joints under stress, so it’s important to focus on strength training and knowing your limits, Vigdorchik says.

12. There is no cure for severe hypermobility or EDS, but treatment includes pain management and surgery.

There is no cure for severe hypermobility or EDS, but treatment includes pain management and surgery.

Purestock via Thinkstock / Via thinkstockphotos.com

“Besides monitoring any possible heart or eye issues, treatment is usually anti-inflammatory pain meds, ice and compression, bed rest, and that’s about it, because the real cause is an incurable genetic problem,” says Vigdorchik. The experts do warn against muscle relaxers (which make the joint less stable) and opioids (because they’re addictive).

Some people need surgeries to alter the bone and create joint stability, Vigdorchik says, especially after injuries like hip dysplasia (a painful misalignment of the hip joint) or knee dislocation. Otherwise, many patients explore different holistic and therapeutic options for the chronic pain. The prognosis for someone with severe hypermobility varies by person, but unless it affects the blood vessels, it’s a manageable and non–life threatening condition.

13. It’s not uncommon for these painful physical symptoms to affect mental health.

It's not uncommon for these painful physical symptoms to affect mental health.

unspokenwords.tumblr.com / Via instagram.com

“I think many hypermobile patients suffer from anxiety and depression because they go through years of pain and hundreds of doctors with no answer — I’ve even seen people who’ve had multiple invasive surgeries for the wrong thing, which was later diagnosed as EDS,” says Vigdorchik.

The experts explain it’s an easily overlooked and misunderstood condition because there’s still a lot of research to be done and hypermobility occurs on such a wide spectrum, varying greatly by the individual. And even though a diagnosis does bring relief to patients, Vigdorchik says, many have trouble coping with the fact that it’s a chronic illness with no cure. That being said, knowing your diagnosis can help you to understand your symptoms better so you can manage them properly to get healthy and happy again.

14. So if you need to talk to someone, there are support groups and online communities that can help.

So if you need to talk to someone, there are support groups and online communities that can help.

Instagram: @zebrasurvivors / Via instagram.com

The hypermobile, EDS, and Marfans syndrome communities have formed many online spaces to provide education, resources, and support for affected people and their families. Popular resources include the Ehlers-Danlos National Foundation andEhlers-Danlos Syndrome Today Advocates. You can also find support on Instagram and Tumblr, where people with hypermobility disorders (who call themselves “zebras” or “zebra warriors”) share their experiences and connect with each other.

“The most important thing is that patients with severe hypermobility or EDS suffering from chronic pain and other symptoms know it’s not in their head and there are a lot of people out there just like them,” Vigdorchik says.

15. Doctors are still working hard to understand more about these disorders and increase awareness.

Doctors are still working hard to understand more about these disorders and increase awareness.

Instagram: @_dysautonomiahumor / Via instagram.com

There’s a big lack of understanding and awareness of what these disorders mean to people, says Vigdorchik, but this will change with more research and awareness efforts. Supposedly, the first case of hypermobility was described in 400 BCE by Hippocrates — so we’ve been trying to figure this thing out for a long time. The definition and classification of Ehlers-Danlos syndrome has changed so much over the last few decades as doctors have learned about the underlying genetics and different subtypes.

So, if you can move way too many joints and frequently experience joint pain or dislocation, you might want to get tested just in case to avoid any potential injury. And if you’re just hypermobile with no other symptoms, enjoy being super flexible (carefully, please).

And PS: Puppies can have hypermobility and EDS too!

And PS: Puppies can have hypermobility and EDS too!

Wikimedia Commons / Via en.wikipedia.org

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First patients dosed with ‘gene silencing’ drug for Huntington’s disease- Term life

The first few patients have received doses of an experimental RNA-targeting drug for Huntington’s disease, it was announced today.

The trial aims to test the safety of an experimental drug known as ISIS-HTTRx, discovered and developed by Isis Pharmaceuticals. Administered by injection into spinal fluid to improve its delivery to the brain, the drug is the first tested in patients that targets the known cause of the disease: a toxic protein called mutant huntingtin which slowly damages and kills neurons, leading to the progressive and ultimately fatal decline in mental and physical abilities that is the devastating hallmark of Huntington’s disease.

The huntingtin gene and its lethal protein product have been the focus of intense research across the world since their discovery in 1993. ‘Gene silencing’ drugs, also known as ‘antisense’ drugs, are designed to reduce production of a chosen protein by attaching to the mRNA ‘message molecule’ that’s made whenever a gene is activated. ISIS-HTTRx targets the huntingtin message molecule, telling the cell to dispose of it, thereby reducing production of the mutant huntingtin protein.

There are no treatments to prevent, slow or cure Huntington’s. RNA-targeting antisense drugs, like ISIS-HTTRx, that lower huntingtin production are widely considered the most promising therapeutic strategy currently under investigation. Isis’s Huntington’s disease therapeutics underwent over a decade of refinement and preclinical testing before human trials could begin. The first Phase 1/2a trial is focused principally on safety, using slowly increasing doses of ISIS-HTTRx with careful monitoring of patient wellbeing, scans and laboratory parameters. In addition, the researchers will be looking for chemical signs that the drug is having the desired effect – by measuring the level of mutant huntingtin protein in the cerebrospinal fluid using a newly developed assay.

The trial is set to recruit patients with very early symptoms of Huntington’s from six centres in Europe and Canada. Prof Sarah Tabrizi, director of the Huntington’s Disease Centre at University College London’s Institute of Neurology, is the global chief clinical investigator of the trial. “I’m thrilled that this antisense drug has now been safely administered to the first patients. Families ravaged by Huntington’s disease have been waiting for this milestone for decades. I look forward to ensuring the smooth running of this first trial and hopefully seeing ISIS-HTTRx through to efficacy testing and licensing,” said Prof Tabrizi.

Isis Pharmaceuticals has partnered with Roche to develop ISIS-HTTRx to treat Huntington’s disease. C. Frank Bennett, Ph.D., senior vice president of research at Isis Pharmaceuticals, said,

“Antisense drugs have great potential for many neurodegenerative diseases because they can be tailored to modify the production of any target protein. Huntington’s is ideally suited to this innovative therapeutic technology because it comes with genetic certainty: everyone with the mutant gene will get the disease at some point. We designed ISIS-HTTRx to target thehuntingtin gene and reduce the production of huntingtin protein, which is the known cause of the disease. This approach has the potential to prevent or slow the progression of this disease. If this first-in-human trial proves the drug is safe, we look forward to continuing our successful partnership with Roche to bring the drug to market.”

At UCL, the trial is hosted in the new Leonard Wolfson Experimental Neurology Centre, a custom-built centre designed to accelerate innovative treatments for neurodegenerative diseases, headed by Prof Vincenzo Libri. The administration of the first doses of ISIS-HTT-Rx marks the Centre’s first use as a phase 1 ‘first into human’ trial facility, as well as the first time that an experimental drug has been given by spinal injection in the 156-year history of the National Hospital for Neurology and Neurosurgery, part of University College London Hospitals (UCLH) NHS Foundation Trust. Crucial support for this important achievement came from a groundbreaking partnership with the Clinical Trials Pharmacy at nearby Great Ormond Street Hospital (GOSH) where the ISIS-HTT-Rx is prepared for administration. The trial also demonstrates the value of successful collaboration between NHS and academic infrastructures in the form of the National Institute for Health Research (NIHR) UCL/UCLH Biomedical Research Centre.

Cath Stanley, Chief Executive of the Huntington’s Disease Association of England and Wales, welcomed the news that the first doses of ISIS-HTTRx had been given to Huntington’s patients. “As well as being desperate for good news, the Huntington’s community is uniquely well-informed and engaged with progress in research across the world,” she said. “RNA-targeting approaches are especially exciting because they tackle the problem at its source – the production of the mutant huntingtin protein. The ISIS-HTTRx trial has been eagerly awaited for many years and we hope that the news from the trial continues to be positive.”
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Early Signs and Symptoms Of SPD In Infants And Toddlers Missed by Mostly Parents-Term life

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The purpose of this “SPD Symptom Checklist For Infants and Toddlers” is to help parents and professionals who interact with children become educated about particular signs of sensory processing disorder in the youngest children and babies.

It is not to be used as the absolute diagnostic criteria for labeling children with sensory processing disorder. But rather, as an educational tool and checklist for your own knowledge. Professionals who can diagnose this disorder have their own tools in addition to checklists to observe and test for SPD (formerly called SID or Sensory Integration Dysfunction).

 As you go through this list, you may say,“Wow, my child has so many of these characteristics/behaviors, he must have a sensory processing disorder!!”

 

 

 

That MAY be true, and I want you to take it very seriously if you find a host of these to be characteristic of your child. But, then use this as a guide to speak with your doctor and an Occupational Therapist so you can clearly explain why you think your child may need help.

Or, you may go through the list and say,

“No big deal, so my child has some of these behaviors/characteristics, doesn’t every child?”

Well, this may be true too and your child’s behavior may fluctuate from day to day.

What we need to be concerned with is WHICH symptoms your child shows, how much these symptoms interfere with their or other’s lives, and what kind ofimpact it is having on their level of functioning. This will help target diagnosis and treatment.

Early identification and understanding of this disorder is HUGE!

Please understand the “Five Caveats” that Carol Stock Kranowitz points out in her book, The Out-of-Sync Child about using a checklist such as this. She writes:

1. “The child with sensory dysfunction does not necessarily exhibit every characteristic. Thus, the child with vestibular dysfunction may have poor balance but good muscle tone.”

2. “Sometimes the child will show characteristics of a dysfunction one day but not the next. For instance, the child with proprioceptive problems may trip over every bump in the pavement on Friday yet score every soccer goal on Saturday.“Inconsistency is A hallmark of every neurological dysfunction.”

3. “The child may exhibit characteristics of a particular dysfunction yet not have that dysfunction. For example, the child who typically withdraws from being touched may seem to be hypersensitive to tactile stimulation but may, instead, have an emotional problem.”

4. “The child may be both hypersensitive and hyposensitive. For instance, the child may be extremely sensitive to light touch, jerking away from a soft pat on the shoulder, while being rather indifferent to the deep pain of an inoculation.”

5. “Everyone has some sensory integration problems now and then, because no one is well regulated all the time. All kinds of stimuli can temporarily disrupt normal functioning of the brain, either by overloading it with, or by depriving it of, sensory stimulation.”

IF, you in fact check off many of these symptoms, an OT evaluation should be considered. IF, in your gut, you know something just isn’t right… listen to it!

Take this checklist with you and go get an evaluation. We NEED to catch SPD in the earliest years of life for the treatment to be the MOST effective; while their nervous systems are still developing. The time is NOW… for you, your child, and your family!

Again, this is NOT to be used to OFFICIALLY diagnose SPD, just to indicate if further evaluation is needed.

 

 SPD Symptom Checklist For Infants &Toddlers

 

__ Resists being held or cuddled

__ Cries and/or arches back when people try to hold him/her

__ Distressed by diaper changes

__ Distressed by baths and/or water splashing on him/her

__ Doesn’t fall into a predictable sleep/wake pattern or cycle

__ Cries excessively throughout the day (more than a half hour or hour at a time)

__ Doesn’t smile often, appears “sad” or “uncomfortable” much of the time

__ Has distinct preferences for adults of certain energy levels or voices (i.e., intonation, loudness, high pitched, low pitched, etc.)

__ Avoids eye contact, has difficulty focusing on objects or following them with eyes

__ Distressed when moved suddenly or whole body and/or head is tipped

__ Distressed by rocking motions

__ Distressed when moving in space (i.e., swinging around, bouncing up and down, or being “thrown” up in the air)

__ Doesn’t appear to respond to name or familiar voice

__ Can’t seem to calm baby down no matter what you try (or there is only ONE thing that does, i.e., a car ride)

__ Difficulty breastfeeding

__ Difficulty with sucking, chewing, or swallowing

__ Doesn’t tolerate new foods well

__ Gags or vomits from textured foods or on variety of different foods (very limited diet for age)

__ Does not seem to sense when diaper is wet or dirty

__ Cries inconsolably until a wet or dirty diaper is changed

__ Prefers to be without clothing

__ Severe separation anxiety

__ Tantrums many times a day

__ Distressed by sunlight or bright lights

__ Distressed in public places, especially if crowded or noisy

__ Doesn’t enjoy regular interactive movement games, i.e., peek-a-boo, pat-a-cake, etc.

__ Doesn’t notice new toys/novel toys and/or resists playing with them

__ Only uses one hand to manipulate and explore toys and/or can’t switch from hand to hand

__ Unable to bang toys together or clap hands (at appropriate age)

Keeps hands fisted and closed most of the time

__ Distressed by dirty hands or face

__ Cries inconsolably when left with strangers or less familiar people

__ Significantly late to talk, walk, gesture, smile, hold bottle, sleep through the night, manipulate/play with toys, etc.

__ Major difficulties transitioning to solid foods and/or rice cereal after bottle or breast fed

__ Can not hold onto or use objects or utensils well for age

__ Regularly avoids certain foods, food categories, consistencies, temperatures of food, eliminates whole food groups, etc.

__ Difficulties with excessive reflux or allergies to foods and/or formulas

__ Doesn’t seem to notice sounds others do

__ Frequent ear infections

__ Sensitive to sounds others don’t seem to be bothered by

__ Difficult to engage; is an observer, doesn’t interact with peers or adults

__ Apprehensive and/or distressed by playground equipment

__ Distressed by baby swings, jolly jumpers, wagon/stroller rides, car rides, etc.

__ Avoids putting toys in mouth, exploring them with her mouth

__ Baby gags or vomits when objects are placed in his mouth

__ Beyond teething stage, always has something in his/her mouth, or chewing on clothes, hands, fingers

__ Avoids categories of toys, i.e., vibrating, stuffed animals, rough textured toys, slippery/slimy toys, brightly colored objects, etc.

__ Appears overwhelmed, cries, or falls asleep when over stimulated

__ Refuses/distressed by certain positions, i.e., being on tummy, on back, sitting, etc.

__ Stays in one position and becomes uncomfortable when moving to another; if moving on own has significant difficulty transitioning to another position (hard to do, awkward)

__ You find you are always trying to be one step ahead of baby; trying to control his environment and “warning” people what to do/not to do so baby is comfortable

__ Difficulty staying asleep for more than 30 minutes at a time, or wakes up frequently throughout the night, unable to soothe himself back to sleep

__ Seems to get too much sleep, very short time when he is alert, playing, responding, and interacting

__ Has significant difficulty waking up

__ Needs a particular sound to stay asleep, i.e., fan, nature tape, white noise, music, etc.

__ Will not sleep if there is any noise

__ Wakes with the sun

__ Can not fall asleep anywhere but home, in familiar environment

__ Needs excessive help to fall asleep…rocking, bouncing, singing, rubbing back, etc. for long periods of time

__ Uncomfortable if not swaddled tightly; or, if older, needs heavy blankets, stuffed animals, or tighter pajamas for weight and pressure on them to fall asleep well

__ Able to switch moods effectively and relatively quickly… easily distracted if upset, “gets over it” within a reasonable amount of time, a favorite toy/face/sound will soothe him/her

__ Excessively attached to a pacifier

__ Never attached to any comfort object, i.e., blanket, stuffed animal, rubbing something, pacifier, thumb, etc.

__ Doesn’t reach for or hold toys (especially textured toys) at appropriate age

__ Closes hand if toy coming near it, or drops it immediately if placed in hand

__ When begins to walk, walks on tip toes only, will not put bare feet on ground/floor

__ Distressed by textured materials under themselves

__ Appears distressed by movement; i.e., a startled response, arches back, frightened look in eyes, etc.

__ Does not crawl before walks (or limited/different type of crawl)

__ Craves movement, distressed if not moving, being swung, rocking, bouncing, rocks self constantly

__ Does not play reciprocally with caregivers or familiar people

__ Frequently engages in repetitive, non-purposeful play with one or two objects

__ Can not switch activities or participate in daily routines without distress when transitioning from one to another

__ Baby is not understood using language, cues, gestures, etc. and becomes frustrated frequently

__ Frequent head banging, hitting, biting, pinching, or hurting self or others

__ Breaks toys frequently

__ Unable to be gentle with animals

__ Appears uncoordinated, frequently bumps into things

__ Can not focus attention on play, caregiver, or toy long enough to interact (for age level)

__ Wanders around aimlessly or engages in non-purposeful activities in excess, i.e., spinning, rocking, staring at certain objects, etc… not interested in play or doesn’t use objects for purposeful play.

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Stroke survivor, 43, on how knitting gave her a new lease of life- Term life

KATE DAVIES nearly died but her collapse has given her a renewed sense of life and now her designs are going global.

  
Kate Davies knitwear

WHEN Kate Davies had a near-fatal stroke, doctors had to quite literally sew her heart back together.

But as her life hung in the balance, it would be other stitches that would change it.

The 43-year-old academic, forced to give up work and confined to a ­wheelchair in a brain clinic, returned to her childhood hobby of knitting.

Today, Kate writes her own patterns and shares traditional Scottish weaves with knitters from around the world who have snapped up her creations by the tens of thousands.

Kate said: “My grandmother taught me how to knit. But, after the stroke, I couldn’t do things like plait my hair. I couldn’t even roll socks into a ball.

“My hand had no memory of doing that action. I couldn’t use a fork. But teaching myself to do those things was incredibly important and it meant I could knit again.


Kate writes her own patterns and shares traditional Scottish weaves

“It was horrendous but those small acts were so important.

“The first thing I knitted was a pair of socks and I think that beats anything I had ever knitted before.

“When you’re in a brain injuries unit, they are very realistic. I couldn’t hear properly, which would have made going back to my lecturing job very difficult.

“I was also in a wheelchair so it wasn’t an option immediately. I wasn’t in a hurry to get back to work but, when the occupational therapist asked what I was going to do in the short and long term, I said I was going to make knitting patterns and sell them. They thought I was mad.”

Five years after the stroke, the day is still seared in her memory.

She said: “I was walking from the train station to work and it just felt like a gun had gone off and I fell over. I had a stroke, which was caused by a congenital heart condition which I knew nothing about.

“I was paralysed on my left side and couldn’t hear properly and I was advised not to return to my old job.”

Kate was in the Western General Hospital in Edinburgh for six months.

She now produces wool from Scottish sheep, writes books and designs knitting patterns under her own trademark,which are sold as PDF downloads. Her husband Tom Barr takes all the associated images.

Kate, who has a PhD in 18th century history, uses her love of history to inspire her work, including creating a pattern for a shawl, known as a hap, traditionally made in Shetland.

Shetland Museum
Haps – Shetland garments which were worn by women

She said: “Through my blog, I met top designers from around the world who used a pattern I had for a hap. I also work with the Shetland museum and, when I researched haps, I discovered that these garments worn by women were simple timeless shawls.

“Women who worked in the mines also used them. They helped to keep women warm but left their arms free to be able to work. And it’s brilliant to be able to take Shetland traditions all around the world. So far, knitters in America, Australia and Canada have knitted them.”

Some of Kate’s patterns have been sold more than 40,000 times. She now even produces her own yarn.

She said: “I know a lot of crofters who own sheep and most of it comes from Shetland. I work with a company who buy the wool, which is also mixed with Cheviot wool. It’s then sent to Yorkshire, which has the only plant where it can be cleaned. I design the colours so they can dye it and send it back to me.”

Shetland Museum
Dressing Shetland shawls

Kate said Scotland’s rich history and scenery helps to inspire her work.

She said: “I was in France recently and when I came back I noticed how the colours here just seem so much more rich. When the weather is bad, the sky changes and light changes and that changes the colour. Every day is different. The technology that is used now is so accurate that it can perfectly colour match what I’ve chosen.”

Before her stroke, she loved to run and swim and moved to Scotland from Lancashire after visiting the Highlands. She now lives near Loch Lomond.

Kate said she wants to help to elevate the status of knitting and to encourage as much interest as she can.

And she hopes her experience can help others to embrace the challenges they face.


Kate had a stroke when she was 36

Her achievements saw her pick up an FSB Microbusiness of the Year Award.

She said: “Everybody has resources. Sometimes they are used in your job and sometimes they are an opportunity to forge another path.

“There are things I love doing that I can’t do. I can’t run and can’t swim. But I do have a good life and I’m happy.”
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