Angelman Syndrome

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    Have questions about finding a clinical network?

    Join the Mighty as we talk with Vanessa, Board Member of Dup15q Alliance and Amanda, CEO of the Angelman Syndrome Foundation about the importance of finding rare disease clinical networks and what to look for when adding a health care provider to your network.

    Add your questions below and they may be answered during this live event.

    Your questions may be used in this Facebook Live, which will be published on The Mighty’s Facebook channels. Your questions will remain anonymous in the story. You can read The Mighty’s full privacy policy at themighty.com/privacy

    #RareDisease

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    When your heart is broken twice

    I was an ordinary girl, I grew up, got married, moved to small town Oklahoma.
    I was blessed to have two beautiful little girls. My oldest was healthy and strong.
    My youngest, was anything but. My little one was a fighter from her very first breath.
    She had to work extremely hard for that breath, and everyone that followed. She was born almost 3 months early. She was diagnosed with a laundry list of problems. She had Angelman Syndrome, Chiari, Ehlers Danlos, Spina Bifida, Epilepsy, Cortical Visual Impairments, Periventricular leukomalacia, and had 3 holes in her heart.
    My oldest took to her role as big sister amazingly, she was the best friend, and biggest fan of her sister. Even though life for my oldest baby would never be the same, and would never be fair, and slighted her at every turn, you wouldn’t know it by looking at her. She had the patience of a saint, and the resilience to match.
    We were flooded with a list of things my baby would never do, she was termed not compatible with life. What a horrible term that was.
    Well one by one she marked those things off her list of things she would never do! My two girls weathered this storm with grace and humor.
    There were many surgeries, and pain and sleepless nights, and slowly I got over the grief of what I thought my family would look like, and my heart healed, stronger for it.
    At age 6 for my youngest, we thought things may just be ok after all. Until April that is.
    My youngest was going in for another surgery, she had just started kindergarten, and loved riding the school bus. She went in for surgery, and was discharged two days later, I brought her home from the hospital and her sister welcomed her like we had done so many times before.
    I tucked her in for bed like every other time, her sister went to bed as well.
    I woke up early as usual only to find that my world had ended, and my baby girl, my little fighter was no longer with us here, she had passed away in her sleep.
    From that moment it was like gravity never existed. The days ran together and the nights were painful and long.
    When I had to tell my oldest the scream she let out still resonates in my soul, and was when I knew what it felt like to break a heart twice. It was a sound of pure unbridled grief and pain.
    It is 3 years now since that day, and my oldest baby is turning out to be as strong and compassionate as she always was.
    I have become almost a participating human again, I swear it was a year before I took a breath again, and it was so hard.
    Her and I are proving to ourselves that we can do this, and while it is the hardest thing we have ever done, we have had help from our family and made some connections along the way.
    We can do this!

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    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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    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.