By Alisa Guilietti
Hi, my name is Nicolas and I am a 15-year-old who has Angelman Syndrome (AS). It’s a rare genetic disease affecting my 15th chromosome. For me, it means I speak only two words rarely, my walking is unbalanced, I need help with a lot of my daily activities and I really like getting into things, so someone needs to be around me all of the time. I am also generally a very happy guy. I can’t write, but my mom knows me pretty well, so she’s writing what she thinks I would say if I could.
Over ten years ago, when I was four, our family learned about a place called RideAble, horsemanship for people with special needs. On the first day, I got to hold the reins of my horse, “Goldie”, lead her to the arena and ride her. I loved it! I felt so big and independent! I have been taking lessons almost every week ever since. Not only am I having fun, but my muscles are working hard to keep me centered on my horse, I am learning how to make the horse go, stop and turn, and I am interacting with some great volunteers and instructors who love horses and are very committed to helping people like me. They keep my lessons interesting and change them up with new challenges. Sometimes they even have me ride bareback, backward! I really have to concentrate when I do that. My favorite part is when we trot!My parents attended a RideAble auction about 6 years ago and bid on a pack trip. My Papa and older sisters went with Matt and Becky Hope, who are members of the Emerald Empire Chapter of the Back Country Horsemen of Oregon, which covers the Southern Willamette Valley of Oregon. They are an equine group of riders protecting the ability to recreate on our public lands, Forest Service, BLM, County and State parks. They embrace trail work/maintenance, Leave No Trace education, trail advocacy, and youth programs. Basically, fun people who like horses, hard work and fun outside! They all had an amazing time on the trip and that fall they took our whole family for a trail ride at Elijah Bristow Park. It was so fun having my family ride with me. I got so excited seeing everyone up on horses, especially my Papa.Something clicked with our family and theirs, and we have been riding together ever since.
My Papa and three sisters have been on a few pack trips with Matt and Becky. Matt said a couple times, “We need to get Nicolas and Alisa out there on a trip”. I was pretty much for it because I like to try new things and am a good sport. My Mama was a little hesitant. Sometimes taking care of me can be a lot of work and I think she wasn’t sure if it sounded fun and worth the effort.With planning and encouragement, the day finally came. We packed up all the horses and rode eight miles into Buck Meadows in the beautiful Three Sisters Wilderness. Me and my horse were ponyed so we didn’t get off course. We had a few obstacles on the trail riding in and out. There were a lot of trees down so we had to stop, assess our options, ride cross country, then get back on the trail. Sometimes there were logs we could jump and others we went under and had to duck our heads. We went slow and I had to pay attention. We also encountered some bee nests. The horses don’t like being stung so they usually start running to get away from the bees when this happens. It’s pretty exciting!When we arrived at the perfect spot, everyone worked to get camp set up, because we’d be staying there for the next 4 nights. They even packed in a sturdy chair for me to sit on. Over the course of the next few days, we went on some awesome mountain trail rides in meadows, near lakes and waterfalls and got really close to the mountains. Matt and Becky are super cool and fun to be with. Nothing really phases them and they are very organized and well-prepared. The Hopes have a cool water filter system since we can’t bring in water for everyone. We camp near running water so all the animals have access to it. Also, we all try to limit the amount of trash we have. We burn what we can, then pack out the rest. As you can see, it’s a pretty organized operation.
Mealtime is a big part of our experience together, as we all love sitting around the fire, soaking up the amazing surroundings and enjoying a good meal. Food doesn’t just appear on our plates; it takes some good planning and preparing since we have limited space. Becky and Mama planned ahead, froze a lot of food and did a great job delivering nutrition to us all. Everyone pitches in with getting the meals ready and washing dishes when we are done. I usually supervise!They have a wonderful group of Norwegian Fjord horses: Darwin, Ekko (who I ride), Thumper, Regney, Sy, Scout, Bo and their friend Flint. Quigley and Clancey are a great pair of Australian Shepherds and our Golden Retriever, Samson, has fun with them all.
One morning Becky was hanging out with me while everyone was getting ready for that day’s ride. I was tired of sitting, and I wanted to get closer to the horses. Becky walked with me to each one of them so I could say hi. This is a great example of how good Matt and Becky are at including me and helping me interact with the horses.My family loves to be outdoors and hike, which is pretty hard for me. It’s very cool that thanks to all these wonderful people and horses, we have found something we all love and can enjoy together in the great outdoors as a family.
Charlotte’s Web CBD (Cannabidiol) is becoming one of the most popular choices to help treat epilepsy in individuals with Angelman Syndrome. Some parents are also reporting that they have noticed improved behaviors. Although this hemp oil is available to order online and ship directly to your home it is highly recommended that you consult with a doctor that is trained in treating individuals for the specific areas in which you are concerned. As more states legalize the use of medical marijuana more doctors will be getting this training and lists are beginning to form to help you find the right doctor. This is a therapeutic and with any therapeutic, it is important to start with the correct dosage and evaluate the efficacy for your loved one and adjust as needed.
Available in Mint Chocolate and Olive Oil
A quote from their website:
-CW™ Hemp proudly ships our Charlotte’s Web™ proprietary hemp extracts to all 50 States. The United States Farm Bill of 2014 classified industrial hemp as containing less than 0.3% THC on a dry-weight basis. Because Charlotte’s Web™ products contain less than 0.3% THC, we are allowed by U.S. Federal law to conveniently ship to your doorstep.
1. What is the Low Glycemic Index Treatment (LGIT)?
The LGIT is a special high fat diet similar to the ketogenic diet that is used for difficult to treat seizures. It focuses on both the type of carbohydrate, low glycemic index, as well as the amount of carbohydrate based on portion sizes and household measurements. The glycemic index (GI) is a measure of the effect of carbohydrates on blood sugar levels.
When carbohydrates are digested, they release glucose into the bloodstream. Carbohydrates that digest rapidly have a high GI. Carbohydrates that are digested slowly have a low GI. Foods are rated based on their GI values ranging from zero to 100. The LGIT includes foods that have a GI of 50 or lower. In addition to the GI, the digestion of a carbohydrate food is slowed by foods that are eaten at the same time that contain either fat or fiber. Therefore, meals are balanced with sources of fat, protein and a low glycemic index carbohydrate.
For more information visit: https://www.charliefoundation.org/explore-ketogenic-diet/explore-2/lowgycemicindex
By Efi Paschalidou
My husband and I wanted a child more than anything else in the world. After two years of trying we saw the magic line on the pregnancy test. Our joy was unspeakable. But unfortunately my pregnancy was difficult from the start. Placental abruption, hemorrhage, contractions from the 6th month, not being able to feel the baby, prematurity.
We said that it is our child and we would adore it even if something went wrong.
Finally we held her in our arms after many days in the incubator.
Our doctor and the other doctors in the hospital told us that our baby was fine, that it was a little “behind” due to prematurity. It was like a black veil was blinding them and they couldn’t see our child’s problem.
But something was eating me alive. I feared that something was wrong. Thought I felt the happiest woman in the world. I had a wonderful family and a “healthy” baby.
A “healthy” baby! What a big word!
We thought we were the happiest people on the earth.I don’t know if we are happy but we sure live a lot of happy moments with our children, each one in her own way. We also have a three-year old little girl who adores her sister.
Our griefs began very soon, she was only 7 months when we had the first diagnose. “Your child has a psychomotor retardation, hypotonic. You should begin physiotherapy”. Those terms were unknown to us. Where should we go, what should we do, how could we help our child in the best way?
We went to many doctors and heard a lot of things but of course nothing comforting. I was crying all day, I felt like hitting my head on a wall, I wanted to take my child and just disappear. And in my head a big question “God, why us?”
But I had to bring myself back together for my child.
I couldn’t see her crying in her therapies but I had to be strong. I could not stand the fact that I had to see her lying on her bed, unable to move properly, but when I hugged her, I knew that she was my whole life. I was the happiest person on earth.
I couldn’t bear the thought of having to see carefree mothers strolling along the streets, in the parks with their babies, when I was in a hurry to be on time for her therapies.
I felt really uncomfortable when some other parents were talking about their children’s accomplishments, but eventually I realized that what our daughter achieves is the most significant achievement of all.
In June 2010 when our angel was about 2.5years old we received a phone call from her pediatrician neurologist to inform us about the results of a medical test our daughter had. “ something was found, your daughter has Angelman Syndrome. Come to my office tomorrow to talk about it “.
We were shocked to hear that. Instantly we started looking for information about this syndrome. We were crying reading the relevant information. We could not believe that we had hit that kind of jackpot.
The following day I called my husband from work and told him that after our visit to the doctor, I wanted to go out and have fun together. We should feel happy as we were lucky to have found what the problem with our daughter was. We should stop weeping all day long. We knew what the exact cause of the problem was and we knew what we had to deal with for the rest of our life and we had to do our best to help her. We have an angel with us and we must survive. We must stand this difficulty bravely.
Our daughter is 8 years old now. She deserves praise for her daily improvements. when her school teachers and therapists tell us that she has improved and therapists tell us that she has improved significantly, we take courage and can cope with it.
“You enjoy what you achieve only if you worked hard for it, if you have obtained it after great efforts and sacrifices.” When our angel manages to reach her goals, it is as if she had conquered the whole world
These happy moments are the reason why we don’t give up and give us great strength in these difficult moments.
So many people wonder what it is like bringing up a charismatic, special child. Yes, it is true that it is difficult sometimes, unexpectedly difficult, it is beyond us. Through her eyes and her smile we can take courage and become patient enough to keep going. We may feel that we are in a dead-end, disappointed at times but we always manage to endure.
Disability is not an infectious disease. Disabled people are the real fighters. The only thing they are asking for, is acceptance. When you meet such a charismatic child do not avert your eyes, do not take your child away from it at school, or in the playground. Let it play with our charismatic child. Do not send it away.
You can be taught a lot by a disabled child. You can learn what the real purpose in life is.
I would like to thank, from the bottom of my heart Angelman Today magazine, which gave us the opportunity to publicize this syndrome and make it known in Greece.
By Kat Adams
Melissa experiences life in such a way that every day is an adventure, she brings so much love and happiness into both mine and Jacob’s lives.
We have set up a small Foundation in Melissa’s name to help support research into a cure for Angelman syndrome and have had many good times with our fundraising events, taking part in things such as skydiving and even carrying Melissa in a sedan chair for 5 miles.
Life is never dull with a child like Melissa. Lots of tears along the way but much more laughter !
For more information about the Melissa Adams Foundation you can visit http://www.researchangelman.org.uk/
This work covers all the aspects of the life of young adults with a rare neurogenetic disorder, the Angelman syndrome. It is still a poorly understood disability, especially with regard to adults, many of whom have never been diagnosed or have been diagnosed belatedly.
Sparkling personalities often jovial and exuberant, they involve their parents, caregivers, educators and specialists in an enigmatic situation on which this work attempts to cast a new light. However, the universe which is described is often less than joyous, it is often hard for everyone, “full of sound and fury” with episodes of difference, indifference, rejection and violence.
This book raises questions as to the attitude of society to victims of Angelman syndrome as it has questioned the many specialists who have contributed their valuable contributions to the reflections of those whose parental role has made them unwitting experts in a field they never expected to explore.
Odile Piquerez was a personnel officer until she interrupted her career to look after her son, now 33 years old. She is involved in many associations which support handicapped people in fields such as accessibility, epilepsy, and care.
The authors have founded the association Syndrome Angelman-France (WWW.syndromeangelman-france.org) They intend to translate extracts of the book into English and progressively to make their association’s website available in other languages.
This is our Sweet Caroline and she was on her way to the 8TH grade prom in this pic. She attends Whittemore Park Middle and is 15 years old. She enjoys cheering for her school, was inducted in the Jr. Beta Club this year and was on the Valentine’s Court at her school.
She enjoys being with her family, staying current with social media, swimming (of course), playing with her sisters, laying on the beach and making others around her smile.
Although we aren’t seizure free they are few and far between and we know that we are extremely blessed.