Mar 29, 2023 | Assistive Technology
Angela was born with Phelan McDermid syndrome, a rare genetic disorder (micro-deletion of 22nd chromosome), that results in significant cognitive impairment and most notably a lack of severe delay of speech.
Angela’s mother tells their story:
|My precious daughter Angela has had the odds stacked against her since she was born. I thank God that she was born into our little family; together we have weathered many storms–some big and some small. At 9 months Angela was prescribed physical therapy by her pediatrician because we noticed that she was missing some gross motor milestones. Her doctor observed that she had low muscle tone (hypotonia) and that it was keeping her from progressing like an average child would. Angela walked quite late, but with therapeutic intervention, she did it! We hoped that maybe we would be out of the woods after that achievement, but we were wrong. Our daughter vocalized and babbled constantly, but we noticed that her words were few and inconsistent. Sometimes she even experiences regressions and lost language that she had seemed to master. (These times were heartbreaking.) We sought interventions to try to help move her forward, but still did not know why she her development was lagging behind.
It wasn’t until one day her left eye began to spontaneously drift and we were referred by an ophthalmologist to have her brain scanned for potential tumors that we started to getting answers about her condition. Thankfully there were no tumors, but this episode landed us with a team at Children’s Mercy, where we were encouraged to have genetic testing done that would hopefully give us more answers. And it did: we learned that our little Angel was 1 of about 2,500 people worldwide who have been diagnosed with Phelan McDermid Syndrome. Her condition is probably under-diagnosed and is sometimes mistaken for autism; as a result, little is known about it. Next to cognitive impairment (Angela is 14 years old, but cognitively operates at the level of a 4-5 year old), her greatest obstacle is the terrible difficulty she has with speech. She has A LOT to say,but struggles enormously to be understood.
Her therapists believe that with the proper tools (an AAC device & Speech Apps) that her voice can be unlocked in a way that we have not yet imagined. It’s at their recommendation that I am writing to you today, Variety KC. THANK YOU for taking the time to consider helping to put tools into the hands of our precious little fighter.
Because of generous partners and donors, Variety KC is able to help children like Angela right here in our area! The need is greater than we would have ever guessed. If you are able to help, please donate to varietykc.org/donate. Thank you for giving a child a voice!
Mar 21, 2023 | Assistive Technology
Anaelle is smart and funny. When she was young, there were no concerns about her speech or communication because she was talking until she turned two. However, at age three she has speech delay which limits her communication. It is believed that the use of assistive technology (a tablet) along with therapy would help with her communication.
Anaelle has done speech therapy with the First Step and now she is doing speech therapy with both Children Mercy and at school as well. She wasn’t saying any words, but her family reports they are seeing some changes and development with her speech. It is hoped that an iPad will assist Anaelle in letting her family and teachers understand her wants and needs.
Variety KC knows it’s important to support speech efforts early and generous partners of Variety have made it possible for Anaelle to have the iPad she needs. There are so many kids in our area with similar needs – you can help by donating any amount at www.VarietyKC.org/
Thank you so much!
Mar 21, 2023 | Assistive Technology
Aiden has always been a very bright and sweet little boy. His parents noticed his speech delay was more and more evident with time. Today, at nearly three years of age, he has been diagnosed with Speech Delay and Sensory Difficulties, an autism diagnosis is being pursued. He doesn’t speak at all.
The good news is, Aiden has been doing well with speech therapy through Johnson County Services as well as private therapy. Aiden’s mother reports that therapy has helped him to be able to sign about 15 different words to help us and him be able to communicate his wants and needs. His parents have noticed that his tantrums and frustrations have lessened by being able to do so and they see more sides to their happy boy!
A note from his mother explains his needs, ” We feel like an assisted communication device would be the next step to him being able to expand his ability to express himself. Through his wants and needs as he gets older
and soon will start preschool in the fall. This will greatly enhance Aiden’s livelihood as he enters a new
unknown when we won’t always be able to be there as “mom and dad.” The more he is able to
communicate and express himself the more we notice he seems more at ease and regulated. It also will
greatly help our family dynamics and help alleviate added stressors that come with the inability to
communicate. We are appreciative of this opportunity to hopefully serve his needs in the best way
Variety partners and donors know that when it comes to language, early intervention is key and Aiden will be getting his iPad with LAMP Words App, case and screen protector. There are so many children like Aiden in our area – you can help to give another child a voice by donating today at www.varietykc.org/donate
Mar 21, 2023 | Assistive Technology
Arthur’s mom Bess shared this regarding his disability, “Art has a rare (so far four kiddos in the world have this) genetic mutation. He is our medical unicorn-complicated, uncharted, surprising one of a kind person! He has (but not limited to!) the following challenges: mobility challenges (motor apraxia), vision issues (Cortical Visual Impairment), intellectual disability (brain disorder which involves underdevelopment of his white matter, with decreased brain volume) and well, he is not saying much (only a few words), he is five years old.”
Bess continues……”But I came across this meme that really hit it on the head for me- just because someone is nonverbal does not necessarily mean that they don’t have anything to say (thank you random instagrammer!).”
“Art has thoughts, ideas, and opinions. He just has a hard time getting them all out. It could be really easy to just assume that there’s nothing going on there. Arthur has two brothers and a newborn sister. When his brothers get home from their day, I can ask them the usual questions that parents ask their kids (how was your day, who did you play with, etc etc) and normally am bombarded with a play by play. Each day I look over to Art and he greets me with those bright blue eyes, that smile and the occasional nod. And as I peer into his baby blues, I can’t help but see a tinge of sadness. He has a communications device on loan from school and it’s been fabulous. Like such a big deal. You know the Disney movie The Little Mermaid? Remember that scene when Ariel regained her voice at the very end and was finally able to tell Ursula to kick rocks and announce her love for Eric? That’s kind of how this device has been for Arthur. But it’s not ours. We have gone around and around with insurance. It’s been an exhausting marathon that no one should have to run, especially when it yields no results. Arthur needs this, his classmates and teachers need this for him, his siblings need this for him. Please help make this possible. Thank you in advance.”
What Arthur needs is the NovaChat 10 Plus – Standard Model, Active Wrap in Green, Ivona Speech Voices, SymbolStix symbol set. The price is too high (just over $5,000) for the family to buy out of pocket – but it’s not to much for generous Variety KC donors! You can’t put a price on giving a child a voice and Arthur will have his! If Arthur’s story touched your heart, please help another child with a similar need – donate any amount at www.varietykc.org/donate Thank you!
Aug 24, 2022 | Assistive Technology
David was diagnosed with autism and focal epilepsy. He turned two without being able to use any words and having no understanding of words that were spoken to him. However, in the last year he has made great strides in the understanding of language. His expressive language has come a long way too, but he still struggles with communication itself.
He has started using the Proloquo2go app with his speech therapist during sessions and has become excited about using it and being able to communicate his wants and needs. He especially appreciates it because he recognizes how frustrated he gets when others cannot understand him. Having access to an app all the time would mean less frustration for David and more time for him to play, learn and connect with the people around him.
That’s exactly what Variety KC wants for David, and for all kids! The ability to communicate is a great step toward inclusion! Won’t you help us make sure all kids have the tools they need to communicate with others? Donate today at www.varietykc.org/donate. Thank you!
Aug 21, 2022 | Assistive Technology
Recently we received a letter from Seynab Mohamed, the mother of Nasiib Mohamed an adorable toddler born with a genetic disorder called WWOX. It is a very rare disease and there is no medical intervention or cure for WWOX related syndromes. Medications are given to relieve the symptoms of the disease. These symptoms are seizures ,developmental delay, low muscle tone, visual impairment, metabolic problems, lack of coordination, and many more.
Nasiib was born in Sweden, Stockholm and moved to the USA last year. His journey began when he was 5 weeks old, and they were in the hospital with his big sister who was sick from the same genetic disorder. Nasiib had his first seizure on a Monday morning when the family was watching doctors and nurses treat his sister from a long episode of seizure. It was a difficult moment for the family. After a few hours the doctors had the awful talk with my husband and I about our daughter having only a few hours or days left to live. Meanwhile, they started testing Nasiib and giving him medications for the seizures. They had two children in two different rooms next to each other. It was the hardest week of our life.. We lost our daughter that week. Luckily, my husband came in time to spend a few hours with her before she left us.
“Our story with a genetic disorder is a tough story, but it felt like I should just start from the beginning on how hard saying goodbye to our angel was for us. . She gave us two beautiful years and Nasiib had a few weeks with his sister, and we are grateful for that. Now back to Nasiib, he has the best team with him since we all had been through this before. We knew what medication to give him and all the steps to take to give him a better chance to fight his symptoms.
After a few months we moved to the USA and started our journey here as a family. One thing we hate about this genetic disorder is that there are not many doctors that have heard about it before, so we will always get the same questions over and over again. As his parents we have to work hard for him to get the best care he needs and get a good team to work with us, So we can give him the best care in life.”
Reading this family’s journey is so raw. It’s hard to understand the challenges they face. And still, they are determined to persist in finding the best care for their son. Part of that care includes the equipment and tools he needs to live his best life. Right now, a communication device and apps that can be used with his wheelchair would do so much to help determine his wants and needs. Variety KC understands how critical these types of resources are and our generous partners will make sure Nasiib gets the device he needs. Please help Variety to help other children like Nasiib – it’s so easy, simply donate at www.varietykc.org/donate Thank you!