AAC - Getting started - Part II

I remember the day we put a speech device in front of our daughter. I genuinely thought she would pick it up and thank me for taking such good care of her. That turned out not to be true. In the beginning, using the device felt awkward and I interpreted that to mean I was doing it wrong. Now that I am helping other families to use speech devices, I always tell them that using the device is not going to come naturally at first. It’s going to feel weird because you and your child are learning to communicate using a completely different method than you are used to.

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AAC - Augmentative and Alternative Communication - Part I

My name is Caitlin Calder and my daughter Della has Bainbridge-Ropers Syndrome (ASXL3 mutation). I am starting my last year of graduate school at the University of Houston to become a speech-language pathologist (SLP) specializing in augmentative and alternative communication (AAC). Although I am drawing from my own experience helping my daughter learn to use a speech generating device, all of the strategies that I am recommending are evidence based and considered best practice for speech-language pathologists.

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Happy Father's Day

"It takes a big heart to hold a little hand." From taking a trip, learning a new skill, or just chillaxing -- ASXL children love quality time with their Dads. ASXL dads trek a challenging and uncertain path. Those who endure or step up to be on this journey with us are our ASXL superhero dads! Happy Father's Day!

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Management of Growth & Nutrition - Q&A with Dietician Dee Madore

Growth in children with ASXL syndromes is different from healthy children. Our children are characterized with IUGR (Intrauterine Growth Retardation) and severe feedings problems, as well as failure to thrive. With this in mind, we think it is important to take a different view on the growth and nutrition.  We asked Dee Madore five questions how to "Gain Healthy Weight"! Dee Madore has received her Master’s and Bachelor’s Degrees in Human Nutrition from the University of Maine, and she have been practicing as a Registered Dietitian for (gasp) 17 years.

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Trouble with sleep?

Abnormal brains and brain activity make going to sleep and staying asleep challenging for ASXL children.  These challenges are compounded with respiratory issues like sleep apnea and gastric dysmotility that slows bowel movements, which may wake the child in the middle of the night.

Even non-ASXL children and parents sometimes have trouble falling asleep.  Here are some tips to help with sleep!

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Adaptive Physical Education

Did you know that Physical Education (PE) is required by law and that adaptive PE should be on your child’s Individual Education Plan (IEP)?  If your child is visually impaired, your Physical Educator can work with his/her Teacher of the Visually Impaired (TVI) to meet the needs of your child.  Every child has a right to learn skills that their peers do and can leverage modified approaches to enhance their experience.

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AЯRE is thrilled to announce our partnership with UCLA and first ASXL Research Symposium in Los Angeles, California! At this conference, ASXL families will be seen in medical clinic and staff will take blood samples for storage and distribution to scientific and medical researchers. Our Geneticists will enroll families in the ASXL Patient Driven Registry  and provide clinical presentations about their work. In addition, numerous ASXL scientists and physicians will present and discuss their research.

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How We Got Here

Read the incredible and inspiring story of Amelia Walsh, who overcame many obstacles and learned how to walk independently.   It is an amazing milestone and accomplishment with tremendous support from her family, providers, and team involved with her care.  BRAVO Amelia!!!   “Amelia Rose Walsh was born 11/2012 in Oklahoma CIty. She was full term and it was a normal pregnancy. She left the hospital without issue, and passed all her newborn testing. Amelia was very difficult to feed initially and we had a hard time with her weight. She was also a very quiet and easy baby. She never really seemed to want for anything and we also noticed that she never seemed to make eye contact with us.

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What is Music Therapie

Music Therapy is the clinical and evidence-based use of music interventions to accomplish individualized goals within a therapeutic relationship by a credentialed professional who has completed an approved music therapy program.

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Laura BadmaevComment
Join us to honor all ASXL mom superheroes this Mother's Day

Honor all the special mothers in your life and make this Mother’s day one to remember.

The ASXL Rare Research Endowment (AЯRE) Foundation would like to recognize all of the amazing ASXL mothers, who face extraordinary challenges every day managing the medical, educational, & administrative care for their children while juggling their everyday responsibilities. 

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Without change, there would be no butterfly

Thank you to everyone for the tremendous support for the ASXL Rare Research Endowment  (AЯRE) launch!  We are incredibly excited to begin this journey together and would like to share with you a few ways that you can get involved and support AЯRE mission.

AЯRE needs assistance from family, friends, caregivers, and neighbors to help make our vision possible.  We are a volunteer based organization and your support is critical.

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Research Spotlight

Bohring-Opitz syndrome (BOS) is characterized by distinctive facial features and posture, growth failure, variable but usually severe intellectual disability, and variable anomalies. The facial features may include microcephaly or trigonocephaly / prominent (but not fused) metopic ridge, hypotonic facies with full cheeks, synophrys, glabellar and eyelid nevus flammeus (simplex), prominent globes, widely set eyes, palate anomalies, and micrognathia. The BOS posture ...

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