Clinical Trial of Low Glycemic Index Treatment proves effective for reducing seizures by 80 – 90%
Dr. Thibert and Dr. Elizabeth Thiele (both are members of the Scientific Advisory board for the Angelman Syndrome Foundation) were able to launch a clinical study to determine the efficacy of the Low Glycemic Index Treatment in reducing seizures in individuals with Angelman Syndrome. In July 2012 the results were in and published in Epilepsia and in the Angelman Syndrome Foundation newsletter.
PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/22779920
Read my interview with Dr. Thibert on my blog www.MeetTheFamiliesofAS.blogspot.com
We have been working hard ever since with nutritional therapy, supplements and the NACD program. Eddyto has come a long way and we are doing everything we can to support him to achieve his maximum potential in health and development.
In addition to having Angelman Syndrome, Eddyto took another hard blow at 7 months of age. His third set of influenza, DTP and hepatitis B vaccines was too much for his body to handle and he lost previously acquired skills, decreased eye contact, stopped babbling, had a sudden onset of hypotonia, which had not previously existed and drifted off into his own world. We quickly implemented nutritional therapy and supplements and we have been able to get him back on track and he now loves to smile at everyone again. Lesson learned. No more vaccines!
But today, I want to tell you the story of how Eddyto is evolving in his gross motor skills. He started crawling military style before his first birthday and kept that technique for 8 months.
We thought he would never crawl four point but when we went to Austria to visit my mother’s family we spent a lot of time in the garden and Eddyto realized that dragging his body on the grass did not work so he changed his approach and voila, he started to four point crawl!
We had not trained four point crawl in therapy since we follow the NACD approach whereby the body needs to develop gradually in his own pace and therefore you do not push the next developmental step but prepare everything needed so the brain and body get there on their own. It was amazing when he started to four point crawl it was so natural, as if he had been doing it forever. This is the beauty of the body, once everything is ready, things run smoothly.
Now, Eddyto is working on his walking skills by cruising along furniture and pulling himself up on anything he can get a hold of. He does very well; he reaches back and forth between the sofa and coffee table and balances his body preparing himself for independent standing. Every once in a while he will let go for a second and test his balance realizing that he still needs to hold on to something for now. We received a wonderful Rifton walker by another angel family and had started to use it, but we decided to hold off some time till Eddyto is ready to walk.
We work hard on Eddyto’s balance and do 5 to 6 hours of therapy daily. Feel free to check out Eddyto’s video at http://www.youtube.com/watch?v=4YFqDIDLq20
Last but not least I would like you to remember – Never put any limitations on your Angel.
By Isabel Orellano de Chang
Welcome To Holland
by Emily Perl Kingsley
©1987 by Emily Perl Kingsley. All rights reserved. Reprinted with permission of the author.
I am often asked to describe the experience of raising a child with a disability – to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It’s like this……
When you’re going to have a baby, it’s like planning a fabulous vacation trip – to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It’s all very exciting.
After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The flight attendant comes in and says, “Welcome to Holland.”
“Holland?!?” you say. “What do you mean Holland?? I signed up for Italy! I’m supposed to be in Italy. All my life I’ve dreamed of going to Italy.”
But there’s been a change in the flight plan. They’ve landed in Holland and there you must stay.
The important thing is that they haven’t taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It’s just a different place.
So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.
It’s just a different place. It’s slower-paced than Italy, less flashy than Italy. But after you’ve been there for a while and you catch your breath, you look around…. and you begin to notice that Holland has windmills….and Holland has tulips. Holland even has Rembrandts.
But everyone you know is busy coming and going from Italy… and they’re all bragging about what a wonderful time they had there. And for the rest of your life, you will say “Yes, that’s where I was supposed to go. That’s what I had planned.”
And the pain of that will never, ever, ever, ever go away… because the loss of that dream is a very very significant loss.
But… if you spend your life mourning the fact that you didn’t get to Italy, you may never be free to enjoy the very special, the very lovely things … about Holland.
Understanding Genetic Classes of Angelman Syndrome
Dr. Charles Williams,
Professor of Pediatrics and Genetics, Division of Genetics and Metabolism, Department of Pediatrics, University of Florida
Conducting blood testing to diagnose Angelman syndrome (AS) can be a complicated matter.
Here I summarize the different genetic causes of AS and provide general guidelines about how to use genetic tests to confirm the diagnosis of AS. First, let us look at the genetic mechanisms that cause AS:
A chromosome 15 pair is illustrated for each class depicted but the other chromosomes are not shown. The P indicates the maternally-derived chromosome and the M indicates the maternally-derived one. The shaded chromosomes have a paternal pattern of gene functioning while the unshaded chromosomes have a maternal pattern. AS can be caused by either a large chromosome deletion (70% of the time); a disruptive mutations in the UBE3A gene inherited from the mother (indicated by the X); inheritance from the father of 2 normal number 15 chromosomes (e.g., paternal uniparental disomy [UPD]); or an imprinting defect (ID), occurring when the chromosome 15 inherited from the mother has the paternal pattern of gene functioning because of a problem in the imprinting center (denoted by the small open circle).
In addition to these mechanisms, a clinical diagnosis of AS may be given even though the genetic testing is normal. The percentages indicate how common each mechanism occurs. How do we use genetic testing and what is the sequence of testing? There are many pathways to diagnosis for families undergoing testing for AS but the most common testing pathway is summarized here:
(part 2 from July edition)
By Marc Bissonnette
“It is both the words you choose, as well as your tone that makes the difference.”
“Look, I work all day, I bring in all the money, I pay for everything in the home, as well as your vacations – I don’t think it’s unfair that I ask you to pull your own weight” Guys, (or gals, if the roles are reversed) if you’re thinking that my response was perfectly reasonable – Bang your head against the wall, because it’s about the worst thing you can say. How do I know this? Because I had a very, very well respected psychologist and marriage counselor tell me so. We went to see her, many, many years ago and I will admit up front that I went in there, fully expecting to be vindicated, to have this counselor tell my wife that she was being completely unreasonable and that it was only fair for her to “make up for” the massively imbalanced financial contributions to the marriage. One of my complaints was the lack of intimacy in the marriage, amongst other things. Don’t get me wrong: She did have issues that needed to be dealt with, but, the counselor responded with this:
“So, Marc, let me see if I understand, before I make a comment, okay?
Your wife gets up in the morning, makes the children breakfast, ensures they’re bathed, including your severely handicapped, wheelchair bound son, gets him dressed, gets the other two on the bus, pushes Liam to school, then comes home, cleans up the house, washes, folds and puts away the laundry, then gets the kids home, which includes pushing Liam back from school in the wheelchair, cooks and serves dinner, washes the dishes, helps the kids with their homework, gets them into bed, makes sure Liam has his medication, cleans up the house from the mess made from the kids coming home and then… You expect her to want to be intimate? Is this an accurate summation? “To put it mildly, yes, I felt like an idiot. It took a professional to teach me what should have been blindingly obvious: I could earn a million dollars a day, but if my spouse looks at the house as nothing but a never ending workplace, then the very idea of sex was just another job.
Folks: If sex and intimacy becomes a job, you are in serious trouble. That is the key to understand: Contributing to the marriage isn’t just about the money that you earn or about the housework you do: It’s about feeling that you are an equal in the partnership. Even when the circumstances are difficult. That saying that “money can’t buy happiness” – It’s true. It may well buy you some additional options in life, but it absolutely will not buy happiness.
So how, exactly, do you get happiness? Believe it or not, the answer is very simple: You get happiness by giving happiness.
This isn’t a Kumbaya moment: This is about giving your partner what makes them happy. Yes, ladies, I am about to talk about sex. (Guys, don’t start pumping your arms in victory: I haven’t gotten to us, yet); Ladies, unless your partner has specifically and emphatically told you that they are not interested in sex, the chances are very good that they’d like to see a little more of it. The chances are even greater that they’d like to see a little more of it without always being the one to ask, initiate, bribe or beg for it, either. Now: Some readers right now are shaking their heads and thinking “Hmph. Men. That’s all they think about: Sex.” Wrong. Here is why you are wrong. “Getting” sex is easy. There are plenty of women out there who are willing to “give sex”. There are plenty of websites where the only purpose is to hook up for sex. (Yes, Virginia, women enjoy no-strings sex, too). But here’s the rub: According to “”Love, Sex and the Changing Landscape of Infidelity”, The New York Times, October 27, 2008”, the largest, longest running and most consistent surveys done with regards to extra marital affairs, the infidelity rate for men is 12% and women, 7%. It can vary by year and by age group, but the numbers are relatively similar. If “all men want is sex”, the infidelity rate should be higher – a lot higher – as in, closer to 90%. Yes, men do tend to want intimate relations more often than women (though, as it turns out, not by nearly as wide a margin as historically thought),
BUT: They don’t want sex with just any woman: They want sex with their spouse. Sex, for men, is an emotional connection with their partner. To be fair, many men do not say as much out loud, but it is indeed a lot more than just the physical sensation. So yes, ladies, it is YOU, specifically, that your man wants to be intimate with – to feel special, to show you that he thinks you are special, to show you, in his way, that he loves you and only you.
Now, guys: Although many of you are reading the above and thinking “YES! THIS! THIS IS WHAT I’VE BEEN TRYING TO SAY!” – Hang on a sec: Sex, to us guys, is important for our emotional well-being and the feeling of connection to our spouses: There’s no denying that (I’m speaking in generalities, here: I am well aware there are exceptions, please don’t bombard me with email about that which I already know), BUT: That is OUR emotional connection with our spouses: It is not necessarily THEIR emotional connection with US. One of the most frequent complaints I have heard from women is that they want to be physically close to their partner without the expectation of it always leading to sex. Yes, one of those women I’ve heard it from was my own wife, I’m not going to lie. So guys: A kiss hello and a long hug when she walks in the door, followed by “Can I make you a coffee?” or “Come in, I’ve got dinner on the table” is a really good idea. A neck massage and only a neck massage every now and then, also a good idea. Sitting side by side, holding hands, or arms around each other, watching a TV show or a movie together; +1 for that, too.
And guys, I have to point this out, because I was guilty as sin of it, myself; if your spouse spends all day in the home doing work, she actually will be tired at the end of the day. So how do you help make sure she’s got the energy for a little excitement when the kids finally get to sleep? Easy: Reduce the work that’s making her tired. Do the dishes. Help with the laundry. Take over cooking a meal. Bathe the kids and get them to bed. My mother had an excellent saying: “There are no such things as ‘womens jobs’ or ‘mens jobs’ – it’s all work that needs to be done. The laundry really doesn’t care what your internal plumbing is – it just needs to be done”. So here we are, with two simple solutions to showing each other how easy it is to show the other that they matter, but why isn’t it done more often?
The answer, sadly, is often “the tally system” – “He hasn’t mowed the lawn in a month, it’ll be a frosty Friday before he sees me without a bathrobe on!” – “She hasn’t shown me any lovin’ in a month – It’ll be a cold day in aich-ee-double-hockey-sticks before I mow that lawn!”
See? Vicious, self-feeding, eternal circle. Someone has to man – or woman – up and give the happiness. You can’t think of your “tally” for this week or even this month. That’s a lose-lose proposition. Life simply does not work that way. Guys, maybe you do go out and mow the lawn or make dinner or take the kids out during her favorite show without being asked more often in the summer. Big deal. It’ll turn out that there will be a period in time where you come to bed more than a few times in a month, expecting to hit the sack just to wake up to face the grindstone the next day, only to find your lovely wife in a negligee, with candles lit in the bedroom. The point is that you have to create the conditions – and you have to be willing to do it not based on a schedule, not based on a “who’s done more this week”, but to do it because by making your partner happy, you become happy. And why do all this? Is it to get more sex, or to have the dishes done so you can watch Greys Anatomy? Is it to reduce stress, get rid of the ulcers or lower your chances of divorce?
Let’s be honest: The answer can be yes for all of the above, but, more importantly: At the very beginning of this article, I listed just some of the stresses of an AS family: You make your partner happy so that they make you happy so that when you face these stresses – and you will – you are not facing them alone. Waiting for your child to come out of surgery or come out of a seizure sucks – But it sucks a little less when you’ve got someone at your side, letting you know that you’re not the only one worried.
Cleaning up puke for the fifth time in a day, scrubbing poo off walls, or picking up two loaves of bread that have been turned into confetti and mashed into the sofa is absolutely no fun at all – But it’s a little less “no fun” when there’s someone right there beside you, helping clean up the mess (not to mention it gets done a lot faster)
At the end of the day, both partners are facing – and dealing with – daily stresses that most people absolutely could not handle. That fact alone should be enough to make you look at your partner and think “I’m going to make him smile, today, no matter what!” – It should warm your heart and make you think “She’s obviously just had a really bad day – I’m going to turn this evening into something she’ll remember forever with a smile!”
Because, folks, you chose your partner: Your partner chose you: You are both raising an Angelman child together and that, even though this has so many worries, frustrations and terrible moments also has many, many moments of joy, triumph and pride.
Uncharted Waters – An Update From FAST On The Minocycline Clinical Trial
In March of 2013, the Tampa 24, wrapped up their final visits to Tampa General Hospital for the human clinical trial to test the efficacy of minocycline in treating symptoms of Angelman Syndrome (AS). The “Tampa 24” is the name penned by the Angelman community for the 24 children randomly chosen to participate in the clinical trial. Since that time, members of the Tampa 24, board members of the Foundation for Angelman Syndrome Therapeutics (FAST), and the team at University of South Florida have all been asked about the results of the minocycline clinical trial.
It may feel as if it has been a long time since we started this journey, but we should try to put this into perspective. First, we, the community, raised enough funding for FAST to support the initial studies conducted by Dr. Edwin Weeber, testing four compounds in the AS mouse model for potential therapeutic benefit. Those studies were initiated in January 2011, and minocycline was quickly identified as having great potential. Two weeks of treatment with minocycline restored motor function and cognition in the AS mice.
In the summer of 2011, we voted our hearts out to win the Vivint Gives Back Contest, which allowed FAST to fund a small human clinical trial to test the efficacy of minocycline in 24 individuals, aged 4 to 12. Dr. Weeber’s clinical trial commenced in February of 2012 with the first 12 participants visiting three times over sixteen weeks. Two participants were seen per week in the trial. Once the first 12 were through the trial, the second set of participants began the trial in the Fall of 2012. Those visits ended in March of 2013.
Bringing a scientific finding from the bench to a human clinical trial in one year is practically unheard of. There are few rare disease groups that have worked this hard to make the possibilities of science a reality for our children. That being said, we are now sailing in uncharted waters of bringing potential treatments for AS into medical practice.
As we eagerly await the official result of the minocycline trial, FAST is committed to sharing all available information that affects our community as soon as we are able to do so. In our journey through these unchartered waters, we at FAST have consulted with clinicians and officials at the National Institutes of Health. We were advised that asking Dr. Weeber to release specific results from the trial, prior to its submission for publication, would not be in the community’s best interest as the work has not had a chance to be peer-reviewed and assessed by experts in relevant fields. This is essentially a quality control step to ensure the data is being interpreted accurately and fairly. Additionally, releasing results before they have been properly evaluated and peer-reviewed could damage any attempts to expand or start new clinical trials for this or other potential therapeutics for AS.
This means we will all have to wait a little while longer to have the specific results from the trial. Dr. Weeber has previously mentioned that preliminary results suggest that minocycline treatment improved behavior, attention and communication in children with AS; however, Dr. Weeber also emphasized that the data was preliminary and that any conclusions about minocycline as an effective therapeutic would have to wait for the conclusion of the clinical trial. Now that the patient portion of the trial has concluded, Dr. Weeber and the team at the University of South Florida are analyzing all of the data to determine what the results of the trial are and to see if any of the findings are statistically significant. The results will then be submitted to a journal for peer-review and publication. Dr. Weeber has stated that he hopes to submit his article for publication by the fall of this year. Given the standard turnaround time for peer-review, the earliest we might hope to see the results “in press” would be this winter. Once the article is in press, we will be able to bring the specific findings to the community.
If the results remain positive, it will be imperative to conduct larger, placebo controlled trials to legitimize the use of minocycline in individuals with AS. These trials are critical to obtaining approval by the FDA for labeling minocycline for this purpose. And, if we have an FDA approved treatment for at least some of the symptoms of AS, it would help us push to have AS added to the newborn screen for genetic disorders. – very exciting!
Various groups, both in the United States and abroad, that are in a position to conduct larger clinical trials in the AS population, are currently organizing and applying for funding to support the larger trials if they are warranted. Dr. Wen-Hann Tan has applied to several sources for funds to conduct a trial of minocycline through the RDCRN for teenagers and young adults. Other groups are trying to arrange trials to extend the current findings within a similar age range to the Tampa trial.
Once the minocycline clinical trial results are available, and if the results are positive, the AS community will be called upon to help support these trials. As such, recruitment for larger clinical trials would hopefully begin soon thereafter.
What does this mean for our Angelman community? Qualified candidates will be needed to participate in trials if we want FDA approved treatments for AS. As Helen Keller once said, “No pessimist ever discovered the secret of the stars, or sailed to an uncharted land, or opened a new doorway for the human spirit.”
We are sailing to that uncharted land and are very optimistic that we are on the right course. To that end, FAST is committed to raising the funds necessary to find potential therapeutics and ultimately, a cure for AS. We want to have the funds on-hand to support new clinical trials when they are ready to go so the community doesn’t have to wait any longer than necessary for these opportunities.
We are happy to announce that the Fast Integrated Research Environment (FIRE) initiative is underway and the four inaugural researchers involved are already examining new compounds for their therapeutic potential. FAST expects more clinical trials will be developing as the FIRE researchers continue their studies.
As always, we will bring you updates on the FIRE projects and on the clinical trial as soon as we are able to do so. Your continued support is the fuel that is driving us toward a cure; we are raising hope through research and changing lives together.