A 6-year-old Canadian girl has raised about $92,000 to help save her brother’s life since she started a lemonade stand outside of her family home when she was 4.
CBC.ca reported that Na’ama Uzan set off to sell the lemonade, and eventually baked treats, in 2014 to raise research funds for Angelman syndrome, a genetic disorder that can cause neurological and developmental disabilities, and that her brother Nadav was diagnosed with that year. According to the National Institutes of Health (NIH), Angelman syndrome affects an estimated one in 12,000 to 20,000 people.
On Monday, dubbed International Angelman Day, firefighters and paramedics participated in a charity ice hockey game in Toronto to raise funds for the research. Ru Uzan, Na'ama's mother, told FoxNews.com that they raised more than $7,200 at the event.
"We have cupcakes and muffins," Na’ama said at the event, which also included a bake sale, according to CBC.ca. "It's been going really, really, really, really well."
Na’ama’s fundraising has helped the Foundation for Angelman Syndrome Therapeutics (FAST) hire a post-doctoral researcher, CTV News reported.
“There’s somebody working every day knowing that a little girl is standing on the corner calling out for lemonade and that is paying her salary,” Ru Uzan, Na’ama’s mother, told CTV News
Channel. Na’ama told CTV News Channel that she wants Nadav to be able to “skate, talk, and be able to do lots of stuff.”
http://www.foxnews.com/health/2016/02/16/6-year-old-has-raised-over-85g-to-find-cure-for-brothers-rare-condition.html
But Tebow realized that dream, created the Tim Tebow foundation which now hosts a Night to Shine where those with special needs are guests of honor, and everyone is treated like the king and queen of prom.
ReplyDelete"It is about celebrating them, it is about loving them and letting them know that their lives matter and that they are special, and giving them the time of their life."...
This year my friend Clare and I wanted to make Night to Shine even more special. Clare's daughter Ashley and my Caleb have been boyfriend and girlfriend for over 10 years. We wanted to treat Night to Shine as the Oscars/Emmy/Grammy night that it is for our kids who don't usually get to attend anything like it.
Caleb met his precious girlfriend Ashley in August, 2005 when we moved to a new state and he started a new school. When he walked in the door after school that day I said, "Hey, honey, how was school?" With dazed eyes and a permanent grin, he replied, "Ashley."
At Caleb's birthday party soon after, Caleb met Ashley at the door, gently took her hand and led her to his table. Ashley has Angelman Syndrome and communicates mostly through sign language, which Caleb doesn't fully understand, but she and Caleb have quite literally created their own language. Clare and I watch, hushed, as these two stare into each other's eyes, smile, nod and have the most wonderful conversations...
This year, we discovered that Grace at Fort Clarke United Methodist Church in Gainesville, Florida was hosting Night to Shine. Ashley's family and I decided we could meet there and give the kids a prom they would never forget...
In addition to a lively dance floor, there was a karaoke room and a limo which offered rides around the beautiful church campus. Caleb and Ashley partook of two rides, beaming and giggling like any other prom attendees.
Aside from every sparkling detail of this beautiful prom for the most beautiful people, Night to Shine gifted me, as Caleb's mom, with memories that pierce my heart with their sweetness. When I was helping Caleb dress, I was buttoning his dress shirt and I swear I heard a camera click in our empty hotel room. This is what a typical mom might do with her typical son. When I adjusted his tie (pre-formed for us by my daughter Sophie's wonderful boyfriend Al a few weeks before), I thought I heard another click. Moments I thought had passed me by swooped into that simple hotel room and gave me the gift of something I thought I would never have.
When Caleb and Ashley saw each other for the first time in the hotel lobby, they broke out in the widest smiles, which made Clare and I beam like any other moms on prom night.
"You look beautiful," Caleb whispered, taking Ashley's hand in his.
Clare and I talked on the short car drive to Grace at Fort Clarke UMC, while Caleb and Ashley whispered together in the back seat. So many parents take these moments for granted. For Clare, myself and all of the other parents of the over 30,000 attendees, we have only gratitude to offer. For one night, our treasured children were celebrated like royalty. They were able to dance in a room filled with so much joy it was like a cloud, weaving in and out among the dancers.
http://www.huffingtonpost.com/kate-welch/an-open-letter-of-gratitu_b_9273758.html
Tan WH, Bird LM. Pharmacological therapies for Angelman syndrome. Wien Med Wochenschr. 2016 Jan 12. [Epub ahead of print]
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Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by a loss of the maternally inherited UBE3A; the paternal UBE3A is silenced in neurons by a mechanism involving an antisense transcript (UBE3A-AS). We reviewed the published information on clinical trials that have been completed as well as the publicly available information on ongoing trials of therapies for AS. Attempts at hypermethylating the maternal locus through dietary compounds were ineffective. The results of a clinical trial using minocycline as a matrix metalloproteinase-9 inhibitor were inconclusive; another clinical trial is underway. Findings from a clinical trial using L-dopa to alter phosphorylation of calcium/calmodulin-dependent kinase II are awaited. Topoisomerase inhibitors and antisense oligonucleotides are being developed to directly inhibit UBE3A-AS. Other strategies targeting specific pathways are briefly discussed. We also reviewed the medications that are currently used to treat seizures and sleep disturbances, which are two of the more debilitating manifestations of AS.
Calculator SN. Description and Evaluation of a Home-Based, Parent-Administered Program for Teaching Enhanced Natural Gestures to Individuals With Angelman Syndrome. Am J Speech Lang Pathol. 2016 Feb 1;25(1):1-13.
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PURPOSE:
This article describes and presents outcomes of a home-based, self-administered version of the Enhanced Natural Gestures (ENG) program for individuals with Angelman syndrome.
METHOD:
Parents of 18 individuals (11 boys and 7 girls) with Angelman syndrome, in consultation with their speech-language pathologists, participated in a quasi-experimental "B" design in which they self-administered an instructional program to teach their children to use enhanced natural gestures at home and/or in the community. Parents integrated 2 teaching methods, Mand-Model with time delay and Molding-Shaping, into their everyday interactions with their children. Parents reported outcomes of the program through goal attainment scaling and completion of the ENG Acceptability Rating Form.
RESULTS:
Children's overall achievements acquiring ENGs generally met or exceeded program (and parent) expectations. Most parents reported little difficulty self-administering the ENG program with their children and regarded the program positively across multiple dimensions.
CONCLUSIONS:
ENGs may, in conjunction with other forms of augmentative and alternative communication, represent a viable method of communication for many individuals with Angelman syndrome. Further research is warranted to explore the feasibility of ENGs with other populations of individuals with severe disabilities and complex communication challenges.