Seven lessons I’ve learned from Rett syndrome

Mom and Ava

By Joanne Gryniewicz

As a mother of a child with Rett syndrome, a disability that affects the brain’s ability to plan or coordinate motor skills, the phrase “take for granted” takes on a whole new meaning. I cannot take for granted that Ava can recite her A, B, C’s or feed herself a snack or go to the bathroom on her own. Quite the opposite. Every day, I strive to properly appreciate the effort it takes for Ava to perform the most mundane tasks. I am the one being “schooled” on Rett syndrome.

Here are seven of the things Rett syndrome has taught me:

1. Technology is seriously cool. 

Ava doesn’t speak, but she can communicate. She uses a speech-generating device with eye-gaze technology that detects the box or symbol she is looking at on the screen and speaks the words it represents. The grid of symbols represent everyday activities, needs, expressions and feelings. It has been invaluable to be able to hear Ava’s “voice.” She navigates with so much ease it’s scary.

2. How to adapt.

Rett girls engage in a stereotypical hand movement, like a hand-washing or wringing that renders their hands useless. You can break the pattern temporarily — hold one of her hands and she will focus on using the free hand to lift a fork to her mouth. But inevitably, the fork will be dropped as she tries to find that other hand. If she had hand use she could learn sign language. She could dress, feed, bathe and toilet herself. Yeah. This one hurts.

Ava gets a hug from big sister, Zoe

Ava and big sister, Zoe

3. Patience.

Rett syndrome’s most profound disability is apraxia, or the inability to carry out a cognitive intent. Ava needs anywhere from 10 to 18 seconds to respond to your request. That’s a LONG time to wait. Ask her to make a choice between cereal and fruit for breakfast and you can see the anxiety build on her face. I’ll take any queue as a response. She may separate her hands temporarily to reach out and indicate her choice, or stare it down like a child possessed. My favorite is the full on rushing tackle. Cereal it is.

4. How to deal with bizarre symptoms.

Ava holds her breath. It freaked me out the first time it happened. Ava turned blue and I screamed for help. Now it’s just part of daily living. She holds her breath. Constantly. An awful side effect of breath holding during meals is swallowing air. Awful because all that air gets trapped in her colon and her belly. Her belly swells by the end of the day until she looks like she swallowed a beach ball.

5. How to deal with bizarre symptoms, part two.

Bruxism, also known as teeth-grinding. Like fingernails to a chalkboard. We hear it ALL day. The harder Ava concentrates, the louder and more intense it gets. Makes my eyes water. I give her a hug, tell her to take her time, and she relaxes and lets go.

Ava and Zoe wearing cowgirl hats

6. The need for respite.

I never heard of that word until our social worker mentioned it as an offered service. A provider will care for your child while you… rest. On any day, take note of how many times your child feeds themselves a snack, goes to the bathroom on their own, dresses themselves, plays with a toy or engages in a conversation. Ava needs assistance with every one of those tasks. Imagine how that adds up in a day. We are so blessed with nanas, papas, grandpa and a rock star nanny to offer us these tidbits of time.

7. In the end, she’s just a kid.

Ava is all about the party — she even has a party dance. She’ll rock side-to-side shifting from one foot to another. Then the party really gets jumpin’ and Ava shifts to over-stimulation mode. Now she’s rocking forward and back. That’s when we know it’s time to dial it back. She never loses it though. As long as there are other kids around — laughing, dancing, chasing siblings — Ava knows she’s part of something fun.

Ava dancing with Zoe

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What I See When I Look at My Daughter With Rett Syndrome

Little Girl Looking Up

By Kerry Hall

When I look in to my daughter’s eyes, I see her. I mean, I really see her.

Her soul is dancing. She’s leaping around listening to her favourite Vamps song.

She spins as she giggles, her long hair swooshing as she turns.

Her eyes light up the room as she floats from person to person, getting them to join in with her.

She’s cheeky, she tells jokes, she has the most incredible sense of humor. She loves slapstick moments.

She’s girly with a boisterous side. She wears nail varnish but climbs trees. She plays with Barbie but loves football.

She’s caring, she gives the most, loving cuddles. She plants kisses on sad cheeks and turns them to happy ones.

She has an answer for everything but has such a cheeky way of doing it that even the strictest of people snigger.

She helps me cook the dinner and make the cakes, licking the bowl with that cheeky face grinning up at me.

She runs into our room in the morning and jumps straight on Mummy and Daddy, giggling and so full of life.

When I look at my little girl, I hear her. I mean, I really hear her.

Her voice is soft and gentle as she says, “Come on, Mummy,” with that gorgeous smile in her face. “Dance with me, Mummy.”

We are dancing. We are spinning. We are laughing.

We are running into the garden as she leaps on to the trampoline “Look at me, Mummy”

She does well at school and tells me all about it. “Look what I did, Mummy, look what I made, Daddy!”

We hear you baby, we hear you.

This is her. This is Lily. Except her body does not always obey her brain, and one day, her body may fail her.

I constantly share, fundraise and ask for help because I have to. She’s my little girl. I think everyone I know would do the same if they had been told a cure was their only hope.

I constantly pray for her to hang on in there and stay strong. We need her. She’s a part of us.


Anavex awarded grant to fund clinical trial of Rett syndrome drug


Anavex Life Sciences Corp. will receive funding for a phase 2 trial of its Anavex 2-73 drug from the International Rett Syndrome Foundation to study the rare neurological disorder, the company announced early Thursday.

The $600,000 grant, which will fund the majority of Anavex’s AVXL, -0.71%  clinical trial, will be the fifth clinical trial for Rett syndrome funded by the foundation and underway this year. Other biotech companies with funded trials include Neuren Pharmaceuticals Ltd. NEU, +8.20%

Rett syndrome is a rare condition affecting about one in 10,000 girls that’s caused by a mutation on the X chromosome. Symptoms include motor and cognitive impairments, seizures and anxiety, and many of those affected die young.

Many in the Rett syndrome community are looking in the long term to gene therapy for a treatment. But having a drug that works across the broad spectrum of symptoms — as opposed to taking medications for each one — is a more near-term goal, said Gordy Rich, the Rett foundation’s chief operating officer.

Rich is also a Rett parent. The prospect of a more comprehensive medication for his 22-year-old daughter is “life-altering,” he said.

“When my daughter was diagnosed there was no known cause and no known cure,” Rich said. Five clinical trials being underway means “to all parents, this is really the most incredible time… We’ll have options for our girls that can improve their quality of life.”

Anavex 2-73, which was designated as an orphan drug for Rett syndrome last spring — which grants companies developing rare diseases various development and commercial incentives— may have that potential.

The 12-week trial — which will cost about $1 million total and enroll between 50 and 80 patients — will measure the drug’s effect on seizure reduction, cognitive impairment, mood disorder, autistic behavior and anxiety, Christopher Missling, president and chief executive officer of Anavex, told MarketWatch.

The drug was selected based on its results in mice, where it addressed a number of symptoms, Rich said.

“To us that’s very exciting, and we want to move as many of the compounds into clinical trials so we can get treatments on the path to a cure,” he said.

The trial is expected to begin this year, with data possibly coming out by the end of the year, Missling said.

Anavex’s relationship with the foundation will also assist in enrolling patients in the trial, which should help hasten trial results, he said.

Anavex 2-73 is also being tested in other areas, including Alzheimer’s disease, Parkinson’s disease, autism and more.


How Do You Die of Parkinson’s Disease?


Parkinson’s disease, a chronic, progressive movement disorder characterized by tremors and stiffness, is not considered a fatal disease in and of itself, though it may reduce life expectancy by a modest amount. It is often said that people die “with” Parkinson’s rather than “of” the disease.

“People who are healthy when diagnosed will generally live about as long as other people in their age cohort,” said James Beck, the vice president for scientific affairs at the Parkinson’s Disease Foundation, which is involved in research, education and advocacy. “It is not a death sentence.”

Since Parkinson’s generally affects people later in life — patients are typically given a diagnosis in their 60s — patients often die of unrelated age-related diseases like cancer, heart disease or stroke. But the most common cause of death in those with Parkinson’s is pneumonia, because the disease impairs patients’ ability to swallow, putting them at risk for inhaling or aspirating food or liquids into their lungs, leading to aspiration pneumonia.

Since Parkinson’s also impairs mobility and balance, those with the disease are also at high risk for falls and accidents, which can trigger a cascade of medical problems, including being bedridden and developing pneumonia, Dr. Beck said. In its advanced stages, the disease can make walking and talking difficult and cause other problems not related to movement, including cognitive impairment. Patients often cannot care for themselves and need assistance carrying out simple activities of daily living.

One long-term study followed a group of 142 Parkinson’s patients after they were given their diagnosis; their mean age at diagnosis was around 70. The researchers found that 23 percent were generally doing well 10 years later, meaning they could maintain their balance and did not have dementia. But over half of the patients in the original group had died, with the most common cause related to Parkinson’s being pneumonia. The probability of losing one’s ability to maintain balance after 10 years was calculated to be 68 percent, and the probability of developing dementia was around 46 percent.


Doctor behind vaccine-autism link loses license

By Alice Park


It took nearly six months but the General Medical Council (GMC) in the U.K. has pulled Dr. Andrew Wakefield’s license to practice medicine in the United Kingdom.

Wakefield is the researcher who nearly single-handedly fueled parental concerns about the link between vaccines and autism. In 1998, he published a paper in the medical journal Lancet describing eight children who showed signs of autism within days of being inoculated for measles, mumps and rubella. A gastroenterologist by training, Wakefield went on in further studies to suggest that the virus from the vaccine was leading to inflammation in the youngsters’ guts that then impeded normal brain development.

Further investigations by other researchers in the decades since have failed to confirm his claims, and in January, the GMC ruled that Wakefield had acted “dishonestly and irresponsibly” in conducting the experiments that led to the publication of the paper. According to the BBC, among his alleged acts of misconduct were conducting those studies without ethical approval of the hospital at which he practiced, and paying children at his son’s birthday party for blood samples. He also served as a paid consultant to attorneys of parents who believed their children had been harmed by vaccines.

In February, editors of the Lancet retracted Wakefield’s controversial paper, telling the Guardian “It was utterly clear, without any ambiguity at all, that the statements in the paper were utterly false.”

Defending his career on the Today show on Monday, Wakefield, now in the U.S., vowed to appeal the decision and maintained that “there are millions of children out there suffering, and the fact [is] that the vaccines cause autism.” Without a license to practice medicine, and the growing evidence to the contrary, it’s going to harder for him to prove that claim.


Patient with Parkinson’s goes from struggling to walk to leading dance in viral clip

Larry goes from struggling to walk with assistance to leading his physical therapist in dance.

A physical therapist who read about the health benefits of music decided to incorporate it into a session with one of her patients who has Parkinson’s disease, and posted the remarkable results online. Anicea Gunlock’s video features her patient, identified only as Larry, who goes from struggling to walk with the aid of a walker to leading Gunlock in a dance by the end of the clip.

“I don’t know who was more shocked at the immediate results!” Gunlock posted with the Jan. 5 video, which has amassed 8.4 million views.

Symptoms of Parkinson’s disease vary from person to person but can include tremor, slowness of movements, limb stiffness and difficulties with gait and balance, according to the National Parkinson Foundation. Severity of the disease can be broken down into five stages, and there is no known cure.

Gunlock told Fox 13 that Larry’s wife followed them around the house crying tears of joy over his progress.

“She said she had been praying for a miracle for her husband and truly felt like this was an answered prayer,” Gunlock told Fox 13.

The video captures nearly four minutes of Larry’s progress, but Gunlock said he continued to walk for 15 minutes more, even singing along to the country song that she had chosen.

“I have never seen results of this magnitude this quickly before and by the end of the session we were all in tears but they were definitely happy tears,” she said.


Lebuh Raya Taiping – Banting Dijangka Siap Tahun 2019

Pembinaan Lebuh Raya Pesisiran Pantai Barat yang sepanjang 233 kilometer dari Banting, Selangor ke Taiping, Perak melalui persisiran pantai Barat yang berdekatan dengan Pekan Beruas, Simpang Empat, Hutan Melintang dan lain-lain pekan yang sehala menuju ke Banting. Projek ini banyak memberi manfaat kerana ia dapat memendekan masa perjalanan untuk ke Kuala Lumpur dan dapat mengurangkan kesesakan lalu lintas di kawasan tertentu pada musim perayaan.

peta lebuh raya pesisiran pantai barat

Lebih menarik lagi, Lebuh Raya Pesisiran Pantai Barat ini bakal menghubungkan bandar seperti Banting, Shah Alam, Kuala Selangor, Tanjung Karang, Sabak Bernam dengan Teluk Intan. Projek dengan kos RM6 bilion ini sudah bermula sejak 2014 lagi dan kini, kita sudah boleh nampak kerja-kerja pembikinan sedang giat dijalankan hampir di seluruh kawasan yang terlibat. Dikatakan, Lebuh Raya ini akan dikenakan kutipan tol apabila dibuka pada 2019 nanti.

perasmian lebuh raya pesisiran pantai barat

Tan Sri Dato’ Haji Muhyiddin bin Yassin bekas timbalan perdana menteri Malaysia telah merasmikan projek infrastruktur mega ini pada 25 Mei 2014 yang akan merancakkan lagi pembangunan kawasan sekitar jajarannya, termasuk di Teluk Intan. Beliau yang merasmikan majlis pecah tanah projek berkenaan berkata, pembinaan lebuh raya yang memakan masa lima tahun itu membuktikan keprihatinan kerajaan dalam mengatasi masalah rakyat yang berdepan kepadatan trafik di Lebuh Raya Utara-Selatan (PLUS) terutama pada musim cuti atau perayaan.

Dianggarkan lebih 22,000 peluang pekerjaan telah diwujudkan untuk penglibatan kerja-kerja pembinaan lebuh raya itu, manakala antara 2,000 hingga 3,000 tenaga kerja kekal apabila laluan lebuh raya ini siap dibina 2019 nanti.


The whole world celebrates this article: discover the cure for Lupus.

Lupus is a chronic autoimmune disease that can damage any part of the body, from the skin to the joints through the organs. It is a disease that acts by outbreaks and then seems to disappear before returning again.


But researchers say they have discovered that by using a combination of two drugs already exist, it is possible to reverse the effects of lupus in mice.

In a new study published in Science Translational Medicine, researchers at the University of Florida, Gainesville, have discovered that by inhibiting certain metabolic pathways in immune cells that can fight lupus in mice. Researchers at UF Health may have found a way to control lupus changing the way the immune system cells use energy.
“The most surprising result of this study was that the combination of the two metabolic inhibitors were needed to reverse the disease.” Dr. Laurence Morel, University of Florida College of Medicine

Systemic lupus erythematosus or lupus, is an autoimmune disease in which the immune system that is supposed to protect the body against foreign invaders – attacks the body’s own tissues, causing inflammation. Lupus can sometimes have symptoms similar to arthritis.
One of the markers of lupus are CD4 T cells (white blood cells that activate other immune cells). For people with lupus, the metabolism of T cells is overactive. T cells activated involve hyper- increased inflammation, and this means more physical damage. When researchers blocked glucose metabolism by using an inhibitor of glucose, metformin (common treatment in type 2 diabetes), CD4 T cells return to normal activity (metabolism CD4 slows down) and lupus symptoms were reversed. “If the T cell is normal, the disease gets better,” Morel said.
The research team initially had the idea of using a two-pronged attack on lupus after seeing a similar approach in research in cancer, said Dr. Laurence Morel, director of experimental pathology and professor of pathology, immunology and medicine laboratory in the UF College of Medicine.
“If it works to limit the metabolism of cancer cells, should work to limit metabolism in T cells,” said Dr.Morel.
The efficacy of metformin in restoring normal function of T cells when studied in the laboratory is also bode well for potential future application for the treatment of patients with lupus.
“That suggests that metabolic inhibitors can also be used to treat patients,” Morel said. “It’s the first time has shown that it can have an effect on the symptoms and manifestation of lupus by normalization of cellular metabolism.”
The two used in research in this study drugs were shown to inhibit the metabolic pathways before, but the combination seems to be the key to success.
“The most surprising result of this study was that the combination of the two metabolic inhibitors were needed to reverse the disease, when they could have predicted, based on models published by other people that one would work,” said study co-author ,
Dr.Laurence Morel, director of experimental pathology and professor of pathology, immunology and laboratory medicine at the University of Florida College of Medicine.
Among other researchers who worked on the project are: Dr. Eric S. Sobel, associate professor of rheumatology and clinical immunology professor; Dr. Byron P. Croker, a professor of renal and surgical pathology; and Dr. Todd Brusko, assistant professor in the UF Diabetes Institute, department of pathology, immunology and medical laboratory.
Their research was funded by grants from the National Institutes of Health and the Alliance for Lupus Research. The human trial will be made in September 2015, favorable results are expected since the tests in mice was a success.


This Tea Heals Fibromyalgia, Rheumatoid Arthritis, Hashimoto’s, Multiple Sclerosis, And More…

Image result for This Tea Heals Fibromyalgia, Rheumatoid Arthritis, Hashimoto’s, Multiple Sclerosis, And More…

Did you know that down through the centuries thyme has been used for many ailments, from influenza to epileptic seizures? It was often mixed with equal parts of lavender and sprinkled on the floors of churches in the Middle Ages to eliminate any unwanted odors. Long before the discovery of modern medicine, crushed thyme was placed on bandages to promote wound healing and ward off infection.

The volatile essential oils in thyme are loaded with anti-rheumatic, anti-parasitic, anti-septic, anti-viral,  and anti-fungal properties.

If taken on a regular basis it can significantly help to reduce the viral load in the body which makes it very beneficial in dealing with Chronic Fatigue Syndrome, Fibromyalgia, Hashimoto’s Thyroiditis, Rheumatoid Arthritis, Lupus, Vertigo, Tinnitus, and Multiple Sclerosis.

Thyme is packed with vitamins and minerals. It’s rich in potassium, iron and calcium, all of which contribute to blood pressure regulation, proper red blood cell formation and distribution of antioxidants in the body. It is rich in high in B-complex vitamins, vitamin A, C and folic acid. Thyme contains a variety of important bioflavonoids and volatile oils, including thymol. Thymol is an essential oil that has very powerful antioxidant properties.

Thyme has cancer preventive properties; containing terpenoids like rosmarinic and ursolic acids. (Regular consumption of thyme has been shown to increase the amount of DHA (docosahexaenoic acid, an omega-3 fatty acid) in brain, kidney, and heart cell membranes)

Thyme’s essential oils have expectorant and bronchial antispasmodic properties treating…

  • acute and chronic bronchitis
  • sore throats
  • coughs
  • laryngitis
  • asthma
  • treats inflammation of the mouth
  • throat infections
  • prevent gingivitis




  • Thyme (dried or a handful of fresh)
  • A covered container for brewing & straining
  • Mug

How to make Thyme Tea, Instructions.

1) Put some herbs in your brewing container – about 1 tsp dried herbs per cup of water.  For fresh herbs, use more.

2) Pour over water that’s just off the boil.

3) Cover and infuse for about 5 minutes.

4) Strain and serve.

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