Angelman Syndrome

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    Community Voices

    Have questions about finding a clinical network?

    <p>Have questions about finding a clinical network?</p>
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    Community Voices

    When your heart is broken twice

    <p>When your heart is broken twice</p>
    Community Voices

    Epilepsy from the outside in

    I am a mother to a 25 year old daughter with epilepsy. She is non-verbal and has Angelman syndrome. I wish I could understand how she feels when she has a seizure before and after.
    I wish I could support her and meet her needs prior to seizure activity.

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    Amber Rippy

    Supporting My Sister Through the Uncertainties of Life With Angelman

    As a homeowner, there is a growing list of DIY projects and home repairs to maintain and care for my home. I recently installed a storm door that advertised a 25-minute install, and two hours later I was still trying to get it set right. I read through the directions, watched YouTube tutorials and called my dad for guidance. Finally, the door was installed, but it wouldn’t have been possible without the guidance from other people’s experiences. It’s common and encouraged to lean on the guidance of others when we encounter new journeys or challenges. However, as a sibling of an adult with Angelman syndrome, our challenge is and was always that there are few families who have experienced and understand this specific journey we are on. Angelman syndrome is a rare genetic disorder that occurs in about one in every 15,000 births. Individuals with Angelman syndrome experience developmental delays, walking and balance disorders, gastrointestinal issues and seizures. The most noticeable characteristic of Angelman syndrome is lack of speech. Some individuals with Angelman syndrome are able to communicate with limited sign language or spoken language, but my sister never developed the ability to communicate in either of these ways. My sister’s primary form of communication has always been through her smiles, hugs and happy demeanor. There are limited studies, data and stories available about adulthood with Angelman syndrome. For example, the first Angelman syndrome diagnosis was in 1982, and the genetic marker was identified in 1987. My sister Ashley was born in 1984 and received her diagnosis in 1992. So there was hardly any historical information between her diagnosis and the first-ever diagnosis. That’s why Ashley and other adults with Angelman syndrome are sharing their knowledge with the younger generation. Although we feel honored to support and guide young families, we are still impacted by the challenges ourselves of navigating the unknown world of adult Angelman syndrome. Ashley was blessed with a dedicated physician who provided medical care for her until she was 36 years old. Since Angelman syndrome is so rare, many doctors are unfamiliar with the disability and how to best treat individuals like Ashley. Recently, Ashley’s primary doctor announced his retirement, so our family is searching for a new primary care physician to provide medical guidance to Ashley and address her symptoms.  It is extremely important for Ashley to see a doctor that understands Angelman syndrome specifically. As Ashley ages into adulthood, her symptoms evolve as well. As a child, Ashley was always full of energy and excitement. Today, she prefers sleeping in and relaxing on the couch. It’s normal for energy levels to fluctuate into adulthood; however, since Ashley can’t physically speak with us about it, her fluctuating energy and interests are a larger concern for our family. As Ashley ages, she experiences situations differently, and, at times, this means demonstrating symptoms of anxiety. Our family is often left wondering what Ashley is thinking inside her sweet head and how we can provide her more enjoyment and comfort. Individuals with Angelman syndrome typically have balance and agility challenges too. Last year, Ashley fell on a step and broke her ankle. Since then, Ashely has been very cautious about walking independently, especially on uneven surfaces.  Oftentimes, she reaches for a hand to hold for balance and security. Because of Ashley’s extreme caution following her fall, her mobility and stability is beginning to decline, and she is losing confidence in her ability to walk.  She has a wheelchair to use for longer distances, but we encourage her to walk any shorter distances and at home. Since fitness isn’t one of Ashley’s hobbies, walking is her primary source of active and healthy movement. One of the more concerning things for our family is Ashley’s seizures, which have resurfaced. We learned that adults with Angelman syndrome often experience seizures at a different frequency and of a different nature than they did as a child. Currently, Ashley’s seizures manifest in sudden, tremor-like movements in her hands. She has a loss of awareness, followed by extreme fatigue from the seizure episode. For many years, her seizure medications kept them at bay. But lately, she has been struggling to find the right medication balance. Determining the right seizure medication and dosage also comes with its side effects, which often include tiredness, loss of appetite, and changes in mood or behavior. During these tough times, I often wish I could pick up the phone and call someone who has experienced similar things with their sibling. Since my sister is older, I wasn’t born when my parents discovered that Ashley had Angelmen syndrome.  Over the years, my parents have talked to me more about their feelings in the early years of Ashley’s life. They felt overjoyed with love for their sweet first-born, but they also felt overwhelmed with the uncertainty of Ashley’s future. Now as an adult sibling, I’m experiencing many of those same feelings of joy and concern that my parents did when Ashley was a baby. We continue to find ourselves moving forward in our journey without a guidebook on how to support Ashley into adulthood. I can’t call a friend or watch a YouTube video on being an adult sibling of someone with Angelman syndrome. It’s not like installing a storm door at our home. It’s not common. All I can do is move along through the journey with love and care for my sister and hope that our experiences provide guidance for future generations of Angelman syndrome families.

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    Lucy Hasler

    What the Doctor Doesn’t Tell You About Angelman Syndrome

    You can hardly hear what she’s saying. Your heart is beating so loudly that it’s drowning out her words. You’re quickly regretting opening the door to her. The pediatrician came to give you an update on the blood test results. Her words are now just a steady stream of medical jargon echoing around the room. You are in the room, but you’re not really there. Whether you like it or not, her words are being fired at you, one after the other. Another linguistic bullet hits. You have to pay attention but it’s too much. Your eyes fill with tears as you drift further and further into an imagined future. Surely someone else’s future. Not yours. Not his. You tentatively glance at the paperwork she gently places on the coffee table in front of you with the results. The proof. The evidence. No longer a possibility, a maybe, a probably not. Instead, a reality. The cup of tea going cold in front of you is no longer a welcome break, a sigh of relief, but instead a stark reminder of your old normality, the routine you once had, what once was but now will never be again. Her face is kind, compassionate and caring but there is no comfort in what she is saying. She says “developmentally delayed.” She says “will probably never talk.” She says “difficulty walking,” “sleeping problems” and “likelihood of epilepsy.” She says Angelman syndrome, a rare genetic disorder that affects the nervous system. She leaves you with some photocopied information sheets and some links to websites. She reminds you of how beautiful your boy is, though, and how you are such good parents. You smile and thank her through red, puffy eyes and she’s on her way. But wait. She left something out. How could she have forgotten? Did she leave one of the photocopied sheets in her bag? The one that had “all the other stuff” written on it? If only you could turn back time and march her right back into that room and get her to retrieve the crumpled up piece of paper from the bottom of her bag and read it out to you. All. The. Other. Stuff. You need to hear this. You, who is now crying into your husband’s chest as you both sit, silently watching your beautiful boy playing on the floor, utterly unchanged from the moment he became The Boy With Angelman Syndrome. What if you could turn back time? Imagine if you could get her to retrieve that forgotten piece of paper crumpled up at the bottom of her bag and read out to you all the other stuff she left out when she gave you the diagnosis. The piece of paper that says: Additional Information About Your Child: Your boy is still your boy. He is beautiful. He is perfectly made. He is exactly as he should be. He hasn’t changed. It may seem as though he is lacking in some things right now but just you wait and see what he can do. In a few weeks, in a few months, in a few years. Wait. He’ll blow your socks off. He really will. He’ll go at his own pace, as we all do, but he will make progress. Some things he may never learn to do by himself, but what he can’t do on his own, you’ll do together. But more about you later. Be prepared for the most wonderful hugs. If you already know what I’m talking about you need to know that the bigger and stronger he gets, the more intense they will become. They will heal your soul. They are full of love, if a little painful at times, but he will somehow manage to time them at exactly the point in the day when you’re feeling low, unloved and in need of a little oxytocin. He has the ability to profoundly affect other people just by being himself. For someone who will say few, if any, words at all, this is quite a remarkable thing. Just smiling at and reaching out to hold the hands of people he has never met before he will do something unexplainable to them. Wherever he goes, he will make people stop and think. Your child will bring a huge amount of joy to your life. Where it says “happy demeanour” in the characteristics of Angelman syndrome, I want you to cross that out now and write “joyful demeanour.” Joy comes from a much deeper place than happiness and you’ll know what I mean when you see the pleasure he will take in the simplest, most beautiful things. It’s infectious. It will feel strange at first to feel what he’s feeling — such profound joy when your life has been turned upside down by the news of your child’s diagnosis. But you will feel it. While your other children and your friends’ children grow up and grow out of wanting to be with their parents, your boy will always think you are the best thing since sliced bread. He will greet you every morning like it’s been months since he last saw you. He will always find you the funniest person in the room, even when your jokes are rubbish and you haven’t the energy to tickle him. He will seek you out over and above anything else. Even an iPad. Even food. Because you are the best thing in the world to him. And at the bottom, in small print, barely legible but possibly the most important part of it all, would be a small section called: Additional Information About You: This news will seem like it’s going to break you. And then it will make you. You have the choice to wallow in the struggles or to get up and fight. And your boy needs you to be a fighter. This world isn’t good enough for him so your job is to make it good enough. You are his advocate and you will become a force to be reckoned with. You have fight after fight ahead of you to get your boy what he needs. You will be a warrior on the outside but you should see how soft you will become on the inside. The empathy you will feel for other vulnerable people now that you know what it’s like to raise one, the injustices in this world that will anger you and reduce you to tears will be the making of a brand new, beautiful you. Yes, you will be exhausted beyond words (if you don’t drink coffee, today is the day to start) and some days it will all feel like too much. Be kind to yourself. He only has one of you. Be vulnerable. Pride is a thing of the past now. You need all hands on deck to raise your boy, so gather your villagers around you and tell them exactly what he needs. Exactly what you need. Remember what she said. He is still your beautiful boy. And you are such good parents.

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    Mary Kay

    Why I Was Secretly Pleased When My Daughter With Angelman Syndrome Cal

    The first time the police came to our door, it was just about dinner time. “Ma’am, is everything OK?” “Yes, officer, why do you ask?” “Someone dialed 911 from your address.” “Oh really?” At that moment, I realized I had left the cordless house phone on the picnic table in the backyard. My daughter Jessie had been playing with her dog while I was inside making dinner. The backyard was fenced and I could keep an eye on them from the kitchen window; however, I didn’t think anything of the phone being outside. According to Jessie’s communication book that goes back and forth from school, the lesson that day had been “what to do in an emergency.” The officers were pleasant but not amused as I shared my guess as to how this happened. Then I asked if they would please explain to my then-5-year-old daughter that she should only dial 911 if there is a real emergency. At least what was a false alarm had now turned into a teachable moment. As serious as this was, secretly I was pleased because my daughter had applied what she learned at school. She was always the kid at the bottom of her class. The teachers didn’t know what to do with her because she didn’t talk, didn’t follow along with the lesson plan, nor would she repeat a drill 10 times to prove she understood the concept. It didn’t help that she was very distractible which made it even more difficult for the teachers to determine what Jessie was learning, if anything. For Jessie to tap 911 on the phone just validated what I had believed all along: she comprehends much more than anyone realized. At this point in time, Jess had a diagnosis of cerebral palsy. It wasn’t until years later when she turned 13 did we learn her correct diagnosis was Angelman syndrome, a rare genetic neurological disorder. This explained a lot: her ataxic gait, happy demeanor, late milestones, non-verbal and seizure disorder. Most of what I read was not very encouraging; however, there were two bits of information that I clung to: “Angels” comprehend much more than they can verbalize, and they can outgrow their seizures. Jessie had a spark in her eye that made me believe the first was true and before she turned 20, we had weaned off all seizure medication. We have many theories about why Jessie was so distractible. At first we thought it was the seizures, but it wasn’t until she turned 21 and we found the AAC (augmentative and alternative communication) iPad app called Speak for Yourself that we truly understood what her issues were. Because her eye/hand coordination was so poor, she never learned to isolate a finger. So it was assumed that an AAC device was beyond her grasp. What was not taken into consideration was, what was her motivation? After she tapped her first words on the iPad, over a period of six to nine months, she was able to recalibrate her eye and her accuracy improved to the point where she no longer needed a keyguard. Not only did she have access to the vocabulary that she was learning (this system works because it relies on motor planning and the words stay in one place, and you can find any word in two taps instead of going through layers) but she also could open the 5,000 pre-programmed words. It was these fringe words that motivated her. The first word she discovered was “exceptional.” Her “talker” also gave her immediate verbal feedback and this allowed her to self-correct. She was no longer frustrated when attempting new things because she found success. We also learned that when she was in a new environment, she needed to scan the whole room first and memorize where things were. This reduced anxiety and allowed her to focus. Most people look at one thing at a time but her brain doesn’t work that way. For Jess, what looks like distractibility is really how she takes information in. In all her years at school, no one thought she would know what “exceptional” meant, much less use it appropriately. Quickly we realized that she had a very good vocabulary. Though I didn’t read to her as much as I would have liked (because she couldn’t sit still), I did talk to her about anything and everything that was appropriate to her age. Before Jessie found her AAC voice, we could only guess as to what she was thinking. Now, she’s able to be more specific. It’s important to realize that it’s difficult for anyone using an AAC device to keep up with a typical conversation which is between 100-130 words per minute. This is why Jess has learned to tap the words that best sum up the conversation, to show that she had been listening. For example, a few weeks ago over dinner, I was lamenting about my job and was thinking about quitting. Jessie’s response was, “Don’t let the door hit you on the way out.” She doesn’t have many pre-programmed phrases on her Talker, but we try to add some that give her conversation color. Later that same evening, her father was admiring the carpentry work he had just completed in the kitchen. Jessie said, “Remarkable.” She prefers to be succinct when she wants to get a word in edgewise. When we are driving in the car, the sky’s the limit. Conversations that are slower allow her to say whatever is on her mind. Jessie is now 27 and still likes to pick up my phone when I’m not looking. If she’s quick, she will get to it before it locks, and then scroll through photos, find a movie on Netflix, or even use FaceTime. I’ve learned not to underestimate her abilities or slyness. For years she had me question “does she or doesn’t she,” and now, the more she talks, the more I realize that she was listening all along. She just had no way to tell me.

    Community Voices

    EFMP - Military Relocations

    I remember sitting at my oldest healthy baby check up and looking at a form that asked if we were EFMP. I had zero clue what it stood for or that we would come to unfortunately understand what very little they do for family. EFMP is the Exceptional Family Member Program that is used across all branches of the military. Their primary goal is to help families that have children or spouses with special needs ranging from #Asthma to #Cancer and so many other things.

    Our second born daughter was born with #AngelmanSyndrome. When she was about 16 months we were placed in the EFMP program. The EFMP program was supposed to place us at a new location that had everything she would need. We soon realized that while that may be their job it is most certainly NOT what they do. The first location they tried to send us to had a 9 month wait list for pediatric neurology. Insane wait lists for almost all therapies. We fought it. We provided all sorts of facts showing them this would not be helpful for her. We were stationed in Germany at the time and my husband had days left on his SOFA card when they gave us the assignment of Nellis in Las Vegas. We had no time to research; we were going. We assumed that because it was in Las Vegas there would be adequate care for her there. We would have abundant resources because it’s a huge city.

    So wrong. We were so wrong. We came with high hopes that were quickly shattered. Laura was just under 2 when we got here. We started off on getting her into her therapies. Her last therapy center was using a harness to help her with body awareness and get over her gravity issues. There was not one therapy center in the city of Las Vegas that had harnesses for her weight. In my opinion Laura would be walking solo right now if she had harnesses available to her. Laura’s Occupational and Physical therapists both mentioned several times how she would be doing better if she had proper equipment and that Vegas was medically 20 years behind. We traveled to Utah for Genetic appointments, San Diego for Neurology care. The school system is rated worst in the country but EFMP doesn’t even look at school districts when moving these families. Schools are a vital part of helping kids who are enrolled in EFMP. Chances are if you have an IEP you are enrolled in the program.   EFMP is supposed to vet these places and make sure kids don’t get lost in the shuffle like mine was. We have struggled so much here.

    We applied for an EFMP move on the guidance of her developmental pediatrician. When we received the new assignment we were dismayed upon our research again. Long wait times for therapies. Wait times that ranged from 2 to 5 years for some kids. I called the EFMP office at the accepting base and asked if they even knew the wait list times. She told me that was not her job to know that, because it’s information privacy. Real quick side note… my mom just got her masters in information privacy… that’s not information privacy. That’s literally public information because I got in less than an hour. So now we’ve been accepted to a base that may not work again. So now we pray. We pray that our kid doesn’t get lost in the shuffle. We talk to other families and hope that they can give us positive feedback. And we raise HELL in hopes that someone will listen to EFMP families when we say the system is broken. IT. IS. BROKEN. It is absolutely the accepting bases EFMP office’s job to check wait-lists and make sure that children and adults can be taken care of. That is the entire purpose of their office. I can almost guarantee that no EFMP office is adequately doing their job for these families that give up everything, including quality health care for their loved ones.

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    Our Journey to Diagnosis

    Jordyn-ann was born after we lost our 7.5 week old son due to severe reflux who passed in December 2013, he was an organ donor. Little did we know, when JordynAnn would be born she would struggle from the very start. From severe reflux, apnea, jaundice, she even had to be hospitalized at less than a week old in the PICU. She then struggled with recurrent 104-105 degree fevers starting at 4 months old and also has tremors and odd involuntary limb movements. The odd involuntary limb movements started around 6 to 7 months old. At this point is when we got a little scared, we didnt know what was causing our baby girl to struggle as badly as she was. She would have apnea episodes every night. The shrill of her apnea monitor alerting me she has stopped breathing would wake me up from a dead sleep to stimulate her to breathe again. She has global developmental delays and didnt sit up until 12 months old as well as didnt walk until 17 months as well as having visual impairment (Optic Optic hypoplasia and CVI). She struggles with balance, coordination, depth perception, and weakness and has to wear AFO braces. She is also nonverbal and cant speak a word to us, she just turned 4 on Oct 28th.

    Some doctors wanted to diagnose her with just having autism and dismiss her…they didnt want to figure out what was causing her other complex medical issues. I fought that diagnosis because I knew Autism was not the only reason she was struggling. Some of her other doctors also agreed with me, there was more to it than JUST autism alone.

    I always wonder what is going through our little girls mind.

    It was once thought she had #AngelmanSyndrome, Pitt Hopkins, or #RettSyndrome.

    After seeing several different geneticists and doctors, with some little diagnosises, we still couldn’t figure out the bigger picture of it all.

    She has Severe Autism, severe expressive and receptive language impairment, gliosis scarring, seizures, recurrent fevers, developmental delay, Optic Nerve Hypoplasia, CVI, absence of speech, tremors, brain abnormalities, hand wringing, teeth grinding and jaw clenching, breath holding and hypo ventilation episodes, involuntary limb movements, nonverbal, sensory issues, weakness/fatigue, coordination and balance issues, toe walking and #FootDrop.

    At the end of 2017, we were feeling lost but didnt want to give up. We got a geneticist named Dr. Barbouth in Miami, Florida through the Miller school of medicine, we even drove 3.5 hours to see her…she listened to my concerns and suggested the #Undiagnosed Diseases Network. She said it wouldn’t be easy and there was no guarantee she would even be approved but I had to try, it was our last hope.

    April of 2018, we got word she was Approved for the study at Duke thru the Undiagnosed Diseases Network, I cried. I felt like we had our hope back! Our trip was scheduled at the end of July and we stayed there a week. She had WES (whole exome sequencing and still waiting on results.

    It has been a roller coaster ride and it still is, still waiting on an official diagnosis and not having families to relate to, sometimes feeling alone in this, wanting a name for this thing that has been causing my precious little girls struggles but we keep fighting. I am her advocate, her voice. The UDN was and is our last hope.

    This smile, her laugh, her being carefree and spunky lights up our world . She is our JordynAnn. Whatever is thrown at her, she shows us to never give up and how to be a fighter.

    If you are also struggling with a search for a diagnosis for yourself or your child, never give up, keep fighting! You are either your own advocate or the advocate for your own child.