8 Tips for Patients Newly Diagnosed with Ehlers-Danlos Syndrome

By Ellen Lenox Smith

Ehlers-Danlos Syndrome (EDS) is a condition that causes one to be born with deformed connective tissue, the “glue” that holds the body together. At this time, there is still no cure to correct this problem, so living life with this condition means a accepting a certain level of chronic pain.

There are simple things to learn to live your life with EDS more safely. For instance,  learning how to properly strengthen the muscles that are on overload doing their job, along with that of the useless ligament and tendons. Or understanding how certain twists and turns bring on other slippage of the body.

Living with Ehlers-Danlos Syndrome means, at times, a long, lonely and difficult journey burdened with a constant search for direction on how to try to create something resembling   a normal life. I am 65, but it wasn’t until eleven years ago that I was finally given the correct diagnoses of something I was actually born with!

There have been times that I felt guilty for almost wishing I had been given a diagnosis of cancer — for then the doors of hope, direction, plans and medical interest would have been with me at all times. Instead, as many other EDS patients have learned, we cope with the unknown, judgment from friends and even family, isolation, confusion, and the lack of consistent knowledgeable  help.

All I ever wanted, when first diagnosed, was for someone to reach a hand out and guide me. That hand has never been there. So, instead, I have spent the past eleven years attempting  to help prevent others from having to replicate my experience. I simply wish to assist other EDS patients avoid some of the uncertainty and stress that I was forced to experience.

The task is often overwhelming and difficult, but you have no choice. This is the life you have been given.

With that in mind, I would like to make suggestions to the newly diagnosed, in hopes that your journey will begin safely by addressing these issues:

1) Confirm with a knowledgeable geneticist that you have EDS. If you get the feeling they do not understand or believe you have EDS, then go to another geneticist. I met with three before I was convinced and accepted the diagnosis.

2) Mourn your losses. It’s okay and necessary to allow yourself to mourn the loss of your past life — it will never again be exactly as you have known it. As you go through that process, remember you need to reach the goal of moving on.

3) Address pain control. Accept that you cannot take this journey on your own. You need to address your pain to have a chance of living as normal a life as you can. You might be like many of us and have trouble metabolizing certain medications. In that case, DNA drug sensitivity testing would help you to identify a compatible pain medication.

Many respond beautifully to medical marijuana instead of opiates. It can be taken in a simple dose of oil at night, that not only allows you to sleep but also carries pain relief to the body even into the next day.

4) Be evaluated by a neurologist for common EDS conditions such as tethered cord, Chiari I Malformation, and instability of the neck . This is a very important. Every patient should have this evaluation and have a neurologist monitor you. Many of us need to have the tethered cord released to end issues with the bladder, kidneys, pressure in the chest, and issues with legs. If you test positive, get it done and then you will feel so much better and be able to progress onto physical therapy more successfully.

Instability of the neck will cause havoc with your body if strengthening does not succeed. Chiari I Malformation must also be addressed. Any or all of these may be an issue for you in time, but please know that correcting them when the time is right will make the difference in moving forward again.

5) Find a good manual sacral physical therapist. This is your chance to take better control of your life by learning, through the guidance of a manual therapist. “Living Life to the Fullest With Ehlers-Danlos Syndrome” is a new book written by my therapist, Kevin Muldowney. He learned by taking on many EDS patients at his clinic, that there are safe ways to strengthen our muscles. I have been through the protocols and have found they work for me.

You’ll need to stay loyal to the daily workouts. But believe me, I love being proactive and so appreciate the good that is now showing — like having the sacrum hold!

6) Develop a network of doctors that understand EDS or are willing get educated.  Feel free to visit my website(ellenandstuartsmith.squarespace.com) to see if a doctor is listed near you. Also feel free to contact us if you have a good doctor that we can add to the list.

Remember, we are complicated and never get all better. That is a lot for a doctor to want to take on. Be patient and look for compatible personalities and let them learn through you.

7) Be sure to have a cardiologist.  You should have an echocardiogram (echo test) done yearly. The test uses sound waves to produce images of the heart and allows the cardiologist to see if your heart is beating and pumping blood correctly.

8) Determine drug and food allergies. I wish years ago I had a clue that there was testing out there to see why I had bad reactions to some medications and foods since birth. A simple DNA drug sensitivity test can help you find a safe drug to be able to put into your body. The same goes for food sensitivity testing. You will learn what foods are causing issues or what drugs are not metabolizing.

Both these issues are VERY important to address. If you keep taking medication or eating foods that are not compatible to your body, then you are adding to the inflammation in your system. More inflammation means more pain due to the increase of subluxations.

It’s also important to remember that you are not alone. Find a local EDS support group and learn as much as you can to live more safely with this condition.

Source: Painnewsnetwork.org

First In Israel: Study Reveals Link Between Shaking due to Parkinson’s Disease and Creativity

(Photo: Breaking Israel News)

Doctors have long noticed that patients suffering from Parkinson’s disease seem to have an enhanced creative streak, but these observations have never been studied until now. A new Israeli study which set out to examine Parkinson’s patients’ ability to perform creativity tasks has been published in The Annals of Neurology.

Prof. Rivka Inzelberg of Tel Aviv University’s Sackler Faculty of Medicine and the Sagol Neuroscience Center at Sheba Medical Center, Tel Hashomer, authored the study, along with Achinoam Faust-Socher MD, Yoed N. Kenett MA, Oren S. Cohen MD, and Sharon Hassin-Baer MD. In a previous study, Inzelberg noted how creative Parkinson’s patients could be. She decided to seek out a measurable scientific difference for the artistry demonstrated by this group.

“It began with my observation that Parkinson’s patients have a special interest in art and have creative hobbies incompatible with their physical limitations,” says Inzelberg. ” In my present research, we conducted the first comprehensive study to measure the creative thinking of Parkinson’s patients. This was not a simple task, because how does one measure, or quantify, creativity? We had to think creatively ourselves.”

Using a variety of tests, Inzelberg determined that Parkinson’s patients are indeed demonstrably more creative than their neurologically normative peers. The difference seems to stem from the dopamine-stimulating medication that many Parkinson’s patients take to quell tremors. This finding is unsurprising, as there is a long established link between artistry and dopamine.

“We know that Van Gogh had psychotic spells, in which high levels of dopamine are secreted in the brain, and he was able to paint masterpieces during these spells — so we know there is a strong relationship between creativity and dopamine,” Inzelberg explains.

In the study, Inzelberg found higher levels of medication translated to higher levels of creativity. However, the drug may not be the only influencing factor. “There is an urge to do something artistic, but not all people will feel this,” she says. “It could be that the [Parkinson’s drugs] induce a lack of inhibition or change of self-perception –– factors that could lead people to create more art.”

Prof. Rivka Inzelberg at her clinic. (Photo: Nir-Keidar)
Prof. Rivka Inzelberg at her clinic. (Photo: Nir-Keidar)

The study took 27 Parkinson’s patients and compared them to 27 neurologically healthy individuals of similar age and level of education. Each participant was subjected to a variety of tests, including the Verbal Fluency exam, the Remote Association Test, the Novel Metaphor Test and the Tel Aviv University Creativity Test, and others which were created specifically for the study. The Parkinson’s patients consistently offered more creative responses to the tasks in each test.

Another test, designed to rule out obsessive-compulsive behaviors commonly found in Parkinson’s patients, showed no link between compulsions and creativity.

Following both studies, Inzelberg concluded that dopamine treatments, including both the synthetic precursors of dopamine and dopamine receptor agonists, have the added effect of increasing creativity.

Beyond the results of the study, Inzelberg believes art can have enormous benefits in helping patients beat depression and stay connected to their communities.

“After my first paper, I helped organize exhibits of patients’ paintings in Herzliya and Ra’anana and received feedback about similar exhibits in Canada and France,” she says.

“These exhibits were useful in raising funds for Parkinson’s research, providing occupational therapy for patients and, most importantly, offering an opportunity for patients to fully express themselves.”

Source: Breakingisraelnews.com

10 comments people with Crohn’s Disease or Ulcerative Colitis are tired of hearing

10 comments people with Crohn's or Colitis are tired of hearing

By Hattie Gladwell

It’s hard enough living with either Crohn’s Disease or Ulcerated Colitis as it is, without unnecessary comments from people who don’t understand.

Both diseases are forms of Inflammatory Bowel Disease (IBD) which are both incurable and can result in major surgery.

The worst thing about both diseases is that you may not be able to tell a sufferer by the odd glance. And therefore a lot of the effects are unknown to anyone who has not experienced the same symptoms.

And sometimes those who do not understand, can be quite unsympathetic.

Here are comments people with Crohn’s disease or ulcerative colitis are tired of hearing:

1. ‘Isn’t it just like a sickness bug?’

If you count a sickness bug as an incurable life time of medication, vomiting, diarrhea, fatigue, weight loss, bad joints etc etc… then yes! So it IS a sickness bug! Duh!

2. ‘Wow, you’ve put on some weight!’

Well it was either get more sick or suck it up on steroids. I took the more painless option, obviously.

10 comments people with Crohn's or Colitis are tired of hearing

3. Or: ‘Do you even eat?’

Sometimes the disease can affect your weight the other way around and you can lose crazy amounts in a short space of time.

4. ‘My friend’s mum’s cousin’s boyfriend has that, they’re cured now’

That’s great, she must feel amazing to be the first person in the world to be cured of IBD. You must tell all of the surgeons that you’ve found the cure they’ve been looking for for years! *Facepalm*.

5. ‘Have you tried aloe vera? It has amazing results and cures IBD’

For some reason, a lot of people have started marketing aloe vera as a cure for IBD. Although I’m sure aloe vera has some fantastic qualities, curing an incurable disease is not one of them.

10 comments people with Crohn's or Colitis are tired of hearing

6. ‘I have IBS though, I know how you feel’

Although IBS can be bad, it’s nothing like IBD. It’s silly to compare a syndrome to a disease. Especially when the disease can result in you having life-changing surgery.

7. ‘You shouldn’t be using the disabled toilets’

This is the worst. Just because you can’t physically see a disability, it doesn’t mean it’s not there.

8. ‘You’re not sick’

Perhaps I’m not being physically sick right now, but my insides are tearing up like crazy.

10 comments people with Crohn's or Colitis are tired of hearing

9.’You went to bed at 10pm… How can you be tired?’ 

Fatigue is one of the most debilitating symptoms of IBD. It’s not just being “tired”.

10. ‘If you just changed your diet…’

Diet has absolutely nothing to do with IBD. Some of the fittest people have IBD, alongside some who may have an unhealthy diet. It’s just bad luck, I’m afraid. No, really.

10 comments people with Crohn's or Colitis are tired of hearing

Source: Metro.co.uk

Shakira Martin, 2011 Miss Jamaica Universe, dies at 30

Shakira Martin, 30, died Wednesday. She was Miss Jamaica in 2011.

By Lisa J. Huriash


akira Martin used her beauty queen crown as a platform to spread her personal gospel: love life.

The former Miss Jamaica Universe used her platform and notoriety to encourage others with sickle cell anemia to get out of their homes and into the sunshine, her mother Andrea Hall said.

“If you live a dead life, what was the purpose of being alive?” were words Ms. Martin lived by, according to her mother.

Ms. Martin, of Plantation, died Wednesday at Memorial Hospital West in Pembroke Pines from blood clots on both lungs, complications of the sickle cell anemia she had since birth. She was 30.

“She was never a slave to the disease, she was very proud, very resilient, she lived her life to the fullest,” said Hall, of Plantation. “Nothing was impossible for her, she never allowed anything to stop her from trying. She was very funny, friendly, loved music, loved Beyonce.”

Hall learned she and her husband were both carriers of sickle anemia when she was pregnant. Doctors told her there was a 25 percent chance the baby would be born with the disease and encouraged her to have an abortion.

“That was not an option for me at all,” Hall said. “The drive [of being OK] has so much to do with who you are.”

Ms. Martin was born June 1, 1986, in Brooklyn. Her family moved to South Florida in 1989. Throughout her life, she vacationed in her mother’s homeland of Jamaica, where the food and culture drew her back year after year.

Ms. Martin graduated from Nova High School in 2004 and attended Broward College. She worked as a teacher at a daycare and entered a beauty pageant in Miami in 2010. She came in second.

A friend urged her to enter the Miss Jamaica Universe pageant. Just for fun, Ms. Martin did the following year, and she won.

“Who knew?” said Hall.

Ms. Martin gave motivational talks throughout Jamaica, encouraging others “just to get out of bed,” Hall said.

Having a Miss Jamaica with sickle cell “became intriguing to people, she beat the odds, she achieved things people [didn’t] think you can,” Hall said.

During her reign in 2011, Ms. Martin held a toy drive to collect 400 toys and distribute them to sick children at a Jamaican hospital.

After she broke her hip in three places because of deteriorating bones, she put on her heels to crown her successor as Miss Jamaica Universe.

Earlier this year, Ms. Martin, whose nickname was “Shak,” created Shak’s Hope Fund to create awareness and education.

Funeral arrangements are pending. A memorial service will follow in Jamaica. “That was her favorite place,” Hall said. “She came back from Jamaica the day she died, she wasn’t feeling well. [From the pictures during the trip], she was laughing like she never laughed.”

In addition to her mother, Ms. Martin is survived by her father Alphonso Martin, of England; and two brothers and one sister.

Source: Sun-sentinel.com

Australian scientists discover new treatment for pre-eclampsia

Australian scientists are confident they have discovered a treatment for pre-eclampsia, a condition that kills 60,000 pregnant women globally each year and many more babies.

In a significant breakthrough, a team of Melbourne researchers has found that a cheap drug already used to treat diabetes – metformin – can block the release of toxins from the placenta when pre-eclampsia is present.

Bianca Rotar with her baby Lexi who was born prematurely at nearly 28 weeks.

Bianca Rotar with her baby Lexi who was born prematurely at nearly 28 weeks.  Photo: Simon O’Dwyer

The drug also seems to heal injured blood vessels – another effect of the disease which strikes about 15,000 pregnant women in Australia each year, causing many to deliver premature babies.

The researchers from the Translational Obstetrics Group at Mercy Hospital for Women and the University of Melbourne discovered the effect in laboratory studies of placentas from healthy pregnancies and those with pre-eclampsia.

They are now hoping to test metformin as a way of preventing the condition and treating it. If funding for more research is secured, the trials could start as early as next year.

Dr Fiona Brownfoot, lead author of the study being published in the American Journal of Obstetrics and Gynecology today, said it was an exciting finding because metformin has already been deemed safe for pregnant women and their babies due to its use for diabetes. The drug is also off patent, which means it could be used in poor countries where most deaths from the pre-eclampsia occur.

“It’s very cheap and it’s a tablet so you don’t need a fridge to store it, which means it could be the perfect drug for the third world,” she said.

Professor Stephen Tong, head of the team, said there were no drugs to treat pre-eclampsia which affects 3-8 per cent of pregnant women from 20 weeks’ gestation. It involves destructive molecules being released from the placenta into the mother’s bloodstream which damage blood vessels. This causes high blood pressure and damage to vital organs including the liver, kidneys, brain, lungs and blood clotting system. In severe cases, it can cause seizures and death.

At the moment, doctors caring for women with pre-eclampsia walk a tightrope, balancing risks to both the mother and baby because the only treatment for the condition is birth. This means women are often admitted to hospital for monitoring and when the condition becomes too risky for her, the baby is delivered, often prematurely. Prematurity puts babies at risk of death, disability and cerebral palsy.

Dr Brownfoot said the only other treatment being tested for pre-eclampsia is Pravastatin – a drug being trialled in the UK and US.

However, she said Pravastatin may carry risks for pregnant women and their babies.

Metformin has become a focus for researchers in recent years because it is believed to prevent the spread of some cancers and increase life span. Another group of Melbourne researchers are currently testing whether it prevents uterine cancer in women with breast cancer.

New mother Bianca Rotar, 31, said she was thrilled with the research after giving birth prematurely to Lexi at nearly 28 weeks’ because of pre-eclampsia.

After her diagnosis, Ms Rotar was monitored in hospital for four days before it became too risky for her to continue the pregnancy. Her daughter, who weighed just 623 grams at birth, has been in the neonatal intensive care unit for two months.

“It’s great news … I’m hoping I can try this drug next time around because I’ve been told I’m at high risk for other pregnancies,” she said.

Source: Theage.com.au

What Trichotillomania Is Like – And How I’ve Dealt With the Urge to Pull My Hair Out

by Sandy Rosenblatt

Every day, I go to great lengths to hide what I really look like. Every day, I make sure you don’t see what I do every morning when I wake up and look in my bathroom mirror.

Because I have a disorder that an estimated 2-4% of the nation has. Few know about it – and even fewer are willing to talk about it.

I have trichotillomania. Trich for short. The disorder causes people to pull out the hair from their scalp, eyelashes, eyebrows, pubic area, underarms, beard, chest, legs, or other parts of the body.

Hair pulling varies greatly in severity and location, but many times results in noticeable bald patches. Many who suffer from it go through phases in which it presents as very severe, while in others it is barely done at all. My worst phase was between the ages of seven and eleven.

If you know someone with trich or you’re reading this and finding yourself wanting to ask me, “Why don’t you just stop?” – please don’t. It is a question many of us who have the disorder ask ourselves on a daily basis. When asked by someone else, we usually just wait uncomfortably for the subject to change.

Here is the answer: Most of us will never be able to stop. If we could, we would.

Today, at 38, I have no eyelashes on my upper eyelids. I pull them out whenever I’m anxious, sad, or stressed. Each morning, I spend at least ten minutes meticulously applying heavy black eyeliner before I face the world, so that no one will notice that I don’t have real eyelashes. When I’m in a relationship, I find myself sneaking out of bed in the middle of the night to reapply it, so he won’t see me without it. I have lived in fear of others discovering my secret.

I, like many others with the disorder, carry a lot of shame. I’m ashamed of the hairlessness, and I’m ashamed that I can’t stop. I’m also ashamed that I want to hide it. And I make the whole thing mean something about myself. I make it mean that I am ugly, I am unworthy, I am unlikeable, I am unloveable. This is a story I began telling myself when I was seven years old, when it all started.

When I was seven, my parents got a divorce. My father moved out of the house and my concept of what a family was, was shattered. I began to pull. I had no idea what I was doing or why I was doing it. I only knew it felt good.

At first, no one noticed. My secret was still safe. Then, little by little, tiny bald patches appeared on my head. Little by little, I had fewer eyelashes and eyebrows. At some point, my parents began to notice, and I remember them asking me why.

I was seven years old, for God’s sake – how was this little girl who was once bubbly, energetic, and innocent supposed to explain the sudden self-destruction, the sudden desecration of her own body?

I had no answer for them. They took me to doctors and psychiatrists, only to find that there was no explanation for why the disorder starts, and that for most people, there is no cure.

(There are treatment options, but as of 2012, most with the disorder will not be cured. Many of us living with it have the luxury of knowing we will always have to battle this).

Then, just as my parents began to have me see a doctor regularly in hopes of ending what many see as self-mutilation, the kids at my school began to notice. The other kids stopped playing with me and began calling me a freak. I started to dread taking the school bus, as I never knew when the older kids would bully me, calling me ugly or chanting, “What’s wrong with you, freak?”

Sometimes they pushed me down the aisle or onto the floor, and sometimes they kicked me while I was down there. At one point, these same kids came to my house and asked me to come out and play. I was thrilled; I thought maybe they’d changed their minds, and I was actually being accepted (oh, the innocent mind of a second grader). Instead, they took me around the corner to beat me up. I was alone.

As a child, I used to love being in photographs. But around this time, I began to want fewer and fewer of them taken of me. I couldn’t even look at the photos my parents had hung on the walls. I also stopped looking in mirrors. I knew who would be there staring back at me – that person everyone called freak, the girl that had something wrong with her. Why would I want to look at her? No one else did.

And when I was old enough, I took those photos down and hid them. I asked my family to never take them out; I never wanted to see them again. Why would I want to be reminded of a time in my life with such painful memories attached? My family obliged. My plan was to never in my lifetime ever see those photos again.

Then recently, something changed.

I went through my twenties and most of my thirties consciously, deliberately, determinedly not looking at the pictures, not dredging up the memories. But little by little, perhaps without me even realizing it, I grew up. I grew into myself. Maybe I grew beyond who I was before. I don’t know.

I do know that as I have grown into a woman I love, I decided to do what I promised myself I would never do: I decided to look at the photos. I chose to no longer avoid what I had kept hidden away for so long.

It was a decision born of the intuitive sense that maybe (fine, likely) there was something there for me. I didn’t know what, exactly. A connection to the past, perhaps? An admission that I had really lived through that, that now I was different – or that in reality I was still the same?

Whatever it was, even after I decided to do it, it took me weeks to muster up the courage to actually look at them. Then, the night I finally sat with them, I studied them for hours. One question kept echoing in my mind: Who was this little girl I was looking at?

I was looking at a little girl who loved to rollerskate with her dad. I was looking at a little girl who loved riding her bike. I was looking at a little girl who used to jump rope with her sister, with two ponytails in her hair that her mother tied with ribbons. I was looking a little girl who was told she was ugly, that she was a freak, that there was something wrong with her. I was looking at a little girl who at some point decided that what everyone else said (aside from her parents and grandmother) was true.

In other words, I was looking at me, and the time in my life when I made a choice. I chose my story: I am ugly, I am unworthy, I am unlikeable. Worst of all, I am unlovable. I chose to live that story for a portion of my life while doing everything I could to prove otherwise. I worked hard to distract people, to make them like me even though I knew I was unlikeable, to make them love me even though I knew I was unloveable. I believed my story, and I lived it out, every day.

But what I realized, looking at those photos again, reliving those memories, was that it was always just a story. It wasn’t “true,” it was something I made up. Not only that, but I made it up when I was seven.

And that story I wrote as a young girl who didn’t really know any better but was doing the best she could, was fiction. As an adult, strong and conscious, I found that the story I’d gone around telling myself and others for years, it just isn’t true.

I believe the stories we tell ourselves about ourselves create our lives. They don’t necessarily create the circumstances (although I believe they do affect them in deep and profound ways), but they create our experience of our lives.

So even if I’d been loved, I hadn’t felt loved, because I had the story that I was unloveable. And even if I’d been told I was beautiful, I didn’t believe it or feel it, because in my story I was ugly.

So here’s a different story: I am a beautiful, passionate, loving woman who will do anything for the people she loves. I am authentic with myself and with others, even when it’s uncomfortable or nerve-wracking. I am a person open to learning and growing. I am a human being, alive and vulnerable and true.

That is my real story. That is who I am.

Source: Everydayfeminism.com

Moms everywhere are rallying to find a cure for Rett Syndrome

Meet Chelsea Coenraads. For the past 18 years, she’s been living with a disease called Rett Syndrome. If you’re like me, you hadn’t heard of Rett Syndrome until just now, which is why this month, Rett Syndrome Awareness month, is so important. According to RettSyndrome.org, the disease is a postnatal neurological disorder that affects almost exclusively young girls, causing problems in brain function that can result in loss of speech and basic motor skills in the hands. For Chelsea’s mother, and any mother of a child with the syndrome, this was her worst nightmare.

While the disease is rare, it still affects far too many families. Those with Rett Syndrome spend the first few months or even years of their lives growing as normal, so it’s not something that’s caught at birth. At some point, however, they start to regress, and that’s when parents and doctors realize that something is wrong. When the news hits, it hits hard, and families have taken to blogging about their journeys with the disease as a way of coping, and a way of making their stories heard.

Stories like Jessica’s. Jessica was born, like most children with the syndrome, fairly normally. There were a few complications but nothing her parents needed to worry about. Until Jessica stopped hitting the milestones she was supposed to as a child. This is how most people realize that something is different. Jessica’s mother explains her story on their blog:

Jessica went through the regression stage of Rett Syndrome, although it was very subtle and you had to know Jessica very well to notice that anything was amiss. She became slightly more withdrawn when with people outside of her immediate family, and her sleep became even more disrupted than normal; becoming very restless and distressed at night. She began the stereotypical hand movement and to lose the use of her hands, although this was very gradual, and looking back, we can see the hand movement in photographs long before we actually noticed it.

This is the first step. Then, the diagnosis. It’s always a shock, as parents have to adjust their expectations for their child’s life. Sadie, daughter of Stephanie and Andy Bohn, was diagnosed at around seven months old. Stephanie remembers the exact moment she found out:

There’s not a word to describe it. I lost my balance and I fell to the floor. And I’m staring at my daughter in her crib as I’m reading this on my computer thinking this does not add up. Because if that were true, then the quality of Sadie’s life would never be close to what we dreamed it would be. How is my daughter facing something like this?

While this is arguably the most traumatic part of the journey, it’s the everyday frustrations that really end up getting the families down. Another blog, called Living With Rett Syndrome, is written by a London mother of a daughter named Amy. She started the blog when Amy was two years old and already diagnosed, and she details the hardest parts of the day-to-day ordeal:

“No” is usually one of the first words small children learn to say clearly and forcefully, and withdefinite meaning. Amy can’t say “no,” but she can certainly make it clear if she doesn’t like something…There are lots of things I’d like to say “no” to as well, on Amy’s behalf. No to blood tests and tubes up her nose; no to therapists who make her lie on her tummy; no to doctors who haven’t read Amy’s notes and want us to repeat everything (“No! Read the notes! They’re in your hand!”); no to social workers who say that Amy “doesn’t seem any different to any other child of the same age.”

It’s tedious and disheartening, but it’s not set in stone. Not anymore, anyways. Recent research suggests that, since Rett Syndrome is reversible in animal models, the same results could one day be seen in humans. That’s why Chelsea’s mother, who we mentioned earlier, is working together to raise money and rid the world of Rett Syndrome. The Coenraads founded the Rett Syndrome Research Trust, and for the past 16 years has raised an astounding $44 million for the search for the cure.

More recent Rett Syndrome parents, like Stephanie Bohn, are wasting no time getting started on organizations of their own. Stephanie is working with Rett Syndrome Research Trust, but needs our help to raise awareness and get it off the ground.

Listen to these stories and understand their pain. Knowing that a cure is so close should be enough to inspire all of us to give what we can to get us there.

(Image via Shutterstock)

Source: Hellogiggles.com

10 Things I Wish People Knew About Tourette Syndrome

By Lucy Clapham

I have lived with Tourette syndrome (TS) for most of my life, but I was only diagnosed when I was 17. Technically I was told when I was 15, but I laughed it off due to my own ignorance about the condition. So for the benefit of those who are facing a TS diagnosis themselves or are just interested, let me tell you some lesser-known things about TS.

1. There is more to Tourette than swearing.

I cannot stress this enough. Although coprolalia, the fancy word for involuntary swearing, can be a symptom, it is surprisingly rarer than the majority of television shows would have you believe. Only an estimated 10 to 15 percent of people with Tourette syndrome swear involuntarily, me being one of them.

2. We can’t “just stop it.”

If only it was that easy! Yes, I know it’s an annoying noise and this really isn’t the best place to be making said noise, but I literally cannot stop! Many of us get what is known as a premonitory sensation or urge that can feel like an itch inside the body or a small jolt of electricity. Some of us can, and do, learn to suppress our tics, but it can be hard for us to do this. To help you understand, try not to blink. That horrid feeling that builds up in the back of your eyes — that’s what we get all over our bodies! Just as you will need to blink, we will eventually need to tic, and it can sometimes make it worse. So don’t ask us to suppress our tics!

3. It can be painful.

Although many tics are harmless, some can cause either minor or severe pain. This can be due to repetitive movements, punching or kicking things, biting and scratching ourselves and in my case, even running myself into walls at breakneck speed. If I injure one of my joints, my TS will focus on the injured limb and I won’t stop twisting it.

4. Some people have tic “storms” or fits.

Some of my friends in the Tourette community and I suffer from what we call “tic fits” or “storms” where we completely lose control of our bodies to tics. This can be scary and painful for us, and I believe it’s a poorly researched part of TS by professionals.

5. Laughing is fine… sometimes.

While we do have a sense of humor, you really need to know when it’s OK to laugh and when it isn’t. Generally speaking, my rule is “If I’m laughing, you may laugh, too.” It is extremely difficult not to laugh when I’ve shouted “Donkey Kong dropkicked a tortoise!” at random. If I am obviously not happy, don’t laugh! Always ask the individual with TS whether laughing is OK and when.

6. It often comes with “added extras.”

Many people don’t just have TS. Quite a lot of us also have obsessive compulsive disorder, attention deficit hyperactivity disorder, autistic spectrum disorder and various other issues, often to do with learning. I couldn’t write until I was 12 years old; others may struggle with reading or math.

7. Some of us don’t grow out of it.

Although a lot of doctors say that most people grow out of TS at around 18 years old, this isn’t always the case and about 5 to 10 percent of people with TS continue to have symptoms as adults.

8. Some activities can calm tics.

Some of us find that our tics reduce or disappear completely when we are engaged in certain activities, such as playing a musical instrument, jogging or other forms of exercise, playing computer games or spending time with an animal. Everyone is different in this respect, and I expect some of us don’t have a special activity, but some do. For me, it’s playing the guitar.

9. Pointing out tics can make them worse.

I can promise you that we are aware we are making noise or doing a strange movement. Pointing this out not only causes more embarrassment, but, for me, can also make me feel more like I need to do the tic. My dad once thought it would be helpful to point out that I was squeaking, but instead of stopping it, I could no longer control it!

10. There is no cure.

There is no cure at this moment. The only options for treatment include medications or, if the TS is severe, deep brain stimulation. Neither is a cure for TS but may reduce the severity of the symptoms. I don’t take medication for my TS because the side effects outweigh the benefits for me.

Source: TheMighty.com

HIV Functional Cure: STEM Cell Treatment Breakthrough After Berlin & Barcelona Patients Cured

Barcelona – Research using man-made, blood-forming stem cells has shown great promise in animal experiments in suppressing HIV.

But now a grant from the California Institute for Regenerative Medicine (CIRM) has funded a clinical trial using those bio-engineered stem cells to treat HIV patients who have lymphoma, a deadly cancer that eventually kills people with AIDS.

Timothy Brown was the first patient to ever be cured of HIV after a bone marrow transplant to treat his leukemia received. He is known as the ‘Berlin patient’.

By using blood transplants from the umbilical cords of individuals with a genetic resistance to HIV, Spanish medical professionals believe they can treat the virus, having proven the procedure successful with one patient.

Now, a 37-year-old man from Barcelona, who had been infected with the HIV virus in 2009, was cured of the condition after receiving a transplant of blood.

While unfortunately the man later died from cancer just three years later, having developed lymphoma, the Spanish medical team is still hugely encouraged by what it considers to be a breakthrough in the fight against HIV and related conditions, according to the Spanish news source El Mundo.

Doctors in Barcelona initially attempted the technique using the precedent of Timothy Brown, an HIV patient who developed leukemia before receiving experimental treatment in Berlin, the Spanish news site The Local reported.

Brown was given bone marrow from a donor who carried the resistance mutation from HIV. After the cancer treatment, the HIV virus had also disappeared.

According to The Local, the CCR5 Delta 35 mutation affects a protein in white blood cells and provides an estimated one percent of the human population with high resistance to infection from HIV.

Spanish doctors attempted to treat the lymphoma of the so-called “Barcelona patient” with chemotherapy and an auto-transplant of the cells, but were unable to find him a suitable bone marrow.

“We suggested a transplant of blood from an umbilical cord but from someone who had the mutation because we knew from ‘the Berlin patient’ that as well as [ending] the cancer, we could also eradicate HIV,” Rafael Duarte, the director of the Haematopoietic Transplant Programme at the Catalan Oncology Institute in Barcelona, told The Local.

Prior to the transplant, a patient’s blood cells are destroyed with chemotherapy before they are replaced with new cells, incorporating the mutation which means the HIV virus can no longer attach itself to them. For the Barcelona patient, stem cells from another donor were used in order to accelerate the regeneration process.

Eleven days after the transplant, the patient in Barcelona experienced recovery. Three months later, it was found that he was clear of the HIV virus.

Despite the unfortunate death of the patient from cancer, the procedure has led to the development of an ambitious project that is backed by Spain’s National Transplant Organization.

March 2015 marked the world’s first clinical trials of umbilical cord transplants for HIV patients with blood cancers.

Javier Martinez, a virologist from the research foundation Irsicaixa, stressed that the process is primarily designed to assist HIV patients suffering from cancer, but “this therapy does allow us to speculate about a cure for HIV,” he added.

Despite the joy and ululation, those who think its time to celebrate may have not done their research. The process of curing HIV referred to by the doctors is called Stem Cell Transplant. Whilst it has worked on this one patient, there is a lot more information about its viability and use as a cure for all people affected with HIV / AIDS.
To begin with, getting a Stem Cell Transplant is much more dangerous than living with HIV.
To successfully complete an SCT you have to completely destroy the stem cells in your bone marrow using intense conditioning resulting in:
1. Low/No white blood cells – [no ability to fight off infection, meaning even something as small as flu could kill you]
2. Low Platelets – [heavy risk of uncontrollable bleeding- a nosebleed would most likely result in death)
3. Low hemoglobin – [you will need many, many blood transfusions]
4. Graft vs Host disease – [which can cause really poor quality of life or kill you]
5. A long time spent in hospital – [weeks to months, if not a year plus].
Stem Cell Transplants do save lives, but judging by the risks state above, they only make sense for people who have specific life threatening conditions such as acute leukemia. These conditions would imply that loss of life is almost guaranteed, and certain, leaving SCT as the last hope or only option.
From a sensible perspective, HIV is now a manageable chronic condition in most cases. This “CURE” is certainly interesting but probably not applicable for almost all HIV positive people.
HIV is a minor inconvenience in the world of modern medicine. It is easily controlled with 1 pill (ARVs) taken once a day, typically with no complications or side effects.
However, dying from a bone marrow transplant because of the risks mentioned before is, by comparison, a major inconvenience.
There is great reason to be excited however, discoveries like these are a major breakthrough and can allow medical personnel to build on them for a more constructive and less intensive cure.

Trials are already underway to gather more information. They started in March 2015.

To decide if it could be done or not a trial, it was necessary first to note that Spanish banks umbilical cord had samples that will carry a key mutation that is responsible for transferring protection against HIV. This is the genetic mutation CCR5 Delta 3 , a variation that acts as a shield against the AIDS virus. Cells carrying this variant areimpermeable to the pathogen.

That’s what was discovered, almost by chance, with the Berlin patient, ie, if a person receives bone (or cord blood) from another subject that carries this positive change, will renew your blood cells they are immune to HIV, the body that will end disappearing.

“We knew that Spain is a world power in number of cords and cellularity, because the collection protocol makes us samples with many cells needed for transplants in adults. So we decided to analyze those cells rich laces, 25,000 . To this end, we agreed with all the autonomous communities and cord banks, “he told WORLD Rafael Matesanz, director of the National Transplant Organization, which has funded the search with about 100,000 euros.

After one year evaluating cord by cord to see which of them carried the mutation , said Rafael Duarte, who was director of Hematopoietic Transplant Program at the Catalan Institute of Oncology (ICO) and is now head of Hematopoietic Transplantation Oncohematology and the Hospital Puerta Iron, “we have managed to identify this feature 157 units, representing 0.6% of the Spanish population.”

That elite cords, and a solution for those offers that require a transplant for hematologic problem, an option to cure HIV to those who, besides being HIV positive, develop a cancer of the blood. “This is not a therapy for any patient with HIV. Only is intended for those who in addition to the virus develop leukemia, lymphoma, etc,” explains Matesanz.

With antiretroviral treatments available, a general therapy umbilical cord blood is not viable. First, because there are few units worldwide who carry the mutation makes the infallible cells against the virus, and secondly because this type of transplantation is not without risks. According to overall figures in Europe the expected mortality from complications of transplant is between 20% and 25%.

This is only acceptable in patients with very serious blood disease , which if not treat them in a short time, to death. Furthermore, according a study of over 100 patients, those with HIV who have undergone a bone marrow transplant have a higher risk of complications than for people without HIV. Therefore, there is a therapy for all HIV-positive people but to very specific cases, “says Duarte.

For all this is important to test this treatment in the context of a clinical trial, said the hematologist, because the protocols are the same in the various hospitals where it is made, monitoring will be equal and once the results are available, allow you to learn from experience experts worldwide.

The trial, which will involve the Puerta de Hierro Hospital, the Gregorio Maranon (both in Madrid), the Catalan Institute of Oncology (ICO), and the Hospital La Fe de Valencia, along with cord blood banks and the ONT, It aims to recruit patients in two to five years. “The first patient is already in. It is discussed in Madrid not until later this year or early next, because previously required to go through a chemotherapy [to kill tumor cells in their bone] and a conditioner that take several weeks. This is a person with a type of lymphoma and HIV we do not want to give more information, “said Duarte, who is the principal investigator of this trial.

157 cords mutation CCR5 Delta 3 identified in Spain continue to be part of the international registration, REDMO, but is an advisory committee (formed by doctors in hospitals, banks cord and ONT) through a protocol established to decide what to do with them if they are claimed by researchers from another country well for an HIV-positive patient with a hematologic or problem for a person without carrying HIV, consistent with the cord and requires a medical problem as a leukemia or lymphoma.

The trial, scheduled for three years and with a budget of 150,000 euros provided by the Mutua Madrileña Foundation, is within an experimental framework. “It is looking for a high amount of healing but the proof of the hypothesis that this transplant can make HIV disappear. The implications are qualitative rather than quantitative.”

The same view Josep Maria Gatell, co-director of the XV European AIDS Conference being held these days in Barcelona, is shown “is interesting in terms of research, no practical way for the current treatment of patients with HIV.”

Source: Thesoutherndaily.co.za

Yoga Instead Of Hormone Therapy For Insomnia During Menopause

Hormone therapy is the only FDA approved treatment for night sweats and hot flashes, and less women are choosing hormone therapy nowadays. A lot of women go on hormone therapy mainly because they need to sleep. That’s why  Menopause Strategies: Finding Lasting Answers for Symptoms and Health (MsFLASH ) sought to evaluate if 3 more natural approaches, such as exercise, yoga, or fish oil, may be able to help ease the symptoms of menopause.

According to the study, participating in a yoga class for 12 weeks and practicing yoga at home was associated with less insomnia during menopause. The association between yoga and improved sleep was the only significant result in this randomized controlled study.

A lot of women experience insomnia during menopause, and it really is good news to know that yoga might be able to help them.

The researchers allocated 249 healthy and formerly sedentary women at different sites to do either yoga or a moderate aerobic exercise program, as well as to supplement with an omega-3 fatty acid or take a placebo.

Exercise appeared to be associated with slightly better sleep and less depression and insomnia, and yoga was also associated with improved sleep quality. The omega-3 supplement wasn’t associated with an improvement in sleep, night sweats, hot flashes, or mood.

The conclusion of the research was that yoga is an effective alternative to hormone therapy for the treatment of insomnia during menopause.

Yoga Instead Of Hormone Therapy For Insomnia During Menopause
Source: Ahealthblog.com