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210.657.4968
7155 Oakridge Drive
San Antonio, Texas 78229
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Chromosome 18 - September News
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18th Annual Botello Lumber Co. Charity Golf Tournament Features Chromosome 18
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Botello Lumber 18th Annual Charity Golf Tournament, September 24, 2018
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The
18th Annual Botello Lumber Company Charity Golf Tournament
took place on
Monday, September 24th
at
The Ridge Club
in Sandwich, MA with over 130 participants and over 40 volunteers. Steve Botello and
Botello Lumber
have been instrumental in championing Chromosome 18. A huge thank you to Steve Botello, Jeanne Ethridge, Roy McKenze (the main event organizer), Botello employees, and volunteers who made this event such a huge success. Last year, the Botello Lumber Golf Tournament donated $30,000 to Chromosome 18 and this was their 18 year Anniversary in supporting the Chromosome 18 Registry & Research Society.
Everybody was treated to lunch before the 12:00 pm start, and the group dispersed around the 18 holes to play a best ball format. Several holes had additional chances to win prizes including longest drive, closest to the pin, along with $1,000,000 for a hole in one, and opportunities to win a boat. In addition to these wonderful opportunities, golfers could face off against professional gofer
Dan "Smackintosh" Mcintosh
in a 350 yard plus competition for an additional donation. This wonderful day was followed by dinner, the drawing of many raffle prizes, and over 25 live auction items. Thank you to the Botello Lumber Company Charity Golf Tournament for a wonderful time and for your continued support!
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Chromosome 18 Clinical Research Center
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2018 Research Update from the Chromosome 18 Clinical Research Center
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Curious about the most up-to-date research from the Chromosome 18 Clinical Research Center?
Check out this video
from Dr. Jannine Cody sharing the 2018 Research Update from this year's Chromosome 18 Decoded Family Conference.
This research is a direct result of funding from donations made to the Chromosome 18 Registry & Research Society.
It is because of generous donations from families like yours that we are able to share this information with you!
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On
September 13
, w
e were please to have a full house at our
September Chromosome 18 Clinical Research Center Tour. In attendance were our newest interns for the spring semester
Noemi Rodriguez
,
Jenai Coleman
,
Christian Dabdoub
. We were also joined by
Kim Sama
, Learning Pathways Architect at P16Plus Council of Greater Bexar County and
Andrea Davila
. Thank you to the Chromosome 18 Clinical Research Center team for hosting us at your September tour!
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Last month, Courtney Sebold, Chromosome 18 Clinical Research Center's Genetic Counselor, published an article entitled,
Featured Gene - SMCHD1
, which you can read in its entirety
here
. You can view
past articles
on the Chromosome 18 website. If you have any suggestions or request for topics, please email the
Chromosome 18 Office
.
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Did you know that you have access to detailed podcasts that cover a variety of topics provided by the Chromosome 18 Clinical Research Center? If you're new to the Chromosome 18 family or its been a while since you've listened to the podcasts, take some time to review the information covered by Dr. Jannine Cody and Dr. Daniel Hale. Topics covered include "
What is microrray analysis?
" "
What is Pitt Hopkins Syndrome; and How Does it Relate to 18q-?
" and more!
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Chromosome 18 directly funds the Chromosome 18 Clinical Research Center, and all of the resources that we are able to provide to you from the Chromosome 18 Clinical Research are due to this support. See where we are at in our support so far in 2018:
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- Chromosome 18 Clinical Research Center owes UT Health: -$55,043.68
- Chromosome 18 has only paid the Chromosome 18 CRC $175,000 out of the $320,000 that we have promised. We have $145,000 still to go in the next four months.
- At $320,000 this only employees most C18 CRC staff on a part time basis, so only a percentage of their time is spend on Chromosome 18 Research.
- We need to fund the C18 CRC at a $500,000 level per year to have all the staff working on Chromosome 18 Research full time
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There are so many ways that you can help whether it is through a monthly donation, a one-time gift, a fundraiser, volunteering, or spreading awareness with your friends and family, you're support makes a difference!
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Coming Soon: Phantom Tea & Phantom Wine
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Chromosome 18's 2018 Phantom Tea & Phantom Wine fundraisers are nearly here! Phantom Tea and Phantom Wine are our largest fundraisers of the year, and we need your help! Be on the look out in mid-to-late October for your Phantom Tea and Phantom Wine materials arriving by mail. Anxious to get started? Check out our online materials and fundraising pages by following the link below. Contact
office@chromosome18.org
with any questions or for more information.
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Social Security Administration Compassionate Allowances: Tetrasomy 18p
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Compassionate Allowances
are a way to quickly identify medical conditions that meet Social Security's standards for disability benefits. Submitted by Chromosome 18 parent and member, John McGing, Tetrasomy 18p is now listed in the Program Operations Manual System for the Social Security Administration. While this a huge step in Tetrasomy 18p being recognized by the SSA, families must still provide a medical evidence of record.
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The suggested Medical Evidence of Record for evaluation is:
- Clinical history and examination that describes the diagnostic features of the impairment
- Genetic Testing
- Blood Testing
- Development assessment or psychological testing to address allegations of mental impairment may be warranted
Thank you to John McGing for submitting Tetrasomy 18p to the SSA! For more information, please visit the SSA's website below.
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2019 Annual Family Conference Payment Plans
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We know attending the conference can be costly. To help with this, Chromosome 18 is excited to announce a payment plan to make 2019's Colorado Springs conference more affordable.
You can still sign-up for a 5-month plan starting in February 2019!
Sign-up to start conference payments in February, and complete your registration when the registration portal opens in early 2019. You can choose to complete the plan for yourself or your whole family.
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Simply fill out the form below, and the Chromosome 18 office will contact you to set-up your recurring payment. A one-time $10 set-up fee to cover the processing fees associated with the recurring payment.
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Christine Mutena, Baltimore, 2018
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Ring 18 Bracelets Christine bought at Conference
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Christine Mutena
joined the Chromosome 18 Registry & Research Society in late 2013 when her daughter was diagnosed with Ring 18. Being from
Kenya
, Christine did not have access to local genetic testing or counseling. Through Chromosome 18, Christine was able to get resources about Ring 18 to share with her daughter's doctors. Attending her first conference in July of this year, Christine was able to connect with other families who are traveling a journey similar to hers, and hopes one day to hold a conference in Africa!
Read more about Christine's amazing story
here
.
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The
Annual General Meeting
for The
Chromosome 18 Registry & Research Society Australasia
will be held Sunday 14 October 2018 at 11:00 am. The venue is Chatswood RSL Club, 446 Victoria Ave, Chatswood NSW 2067. For further information, please email
admin@chromosome18.org.au.
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Volunteer Spotlight: Kathy & Jeff Borello
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After joining as Chromosome 18 members when their daughter, Hannah (Tetrasomy 18p), was diagnosed in December 2000, the Borello family has become champions for all things Chromosome 18. Kathy Borello served on Chromosome 18's Executive Board as VP of Member Relations from 2013-2017 and as Co-Chairperson for the 2017 Chromosome 18 Decoded Annual Family Conference. Currently, Kathy serves on both Chromosome 18's Grants & Conference Committees. Her husband, Jeff Borello, currently volunteers as Director of Technology for Chromosome 18. Read about the Borello family's amazing past and ongoing efforts to support Chromosome 18
here
.
Thank you to Kathy & Jeff Borello for your continuous support!
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Jeff & Kathy Borello with children Alex & Hannah (Tetrasomy 18p)
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Thank You and Happy Birthday to
Viviam Novo, Dave Aldrup, Judith Taylor Jackson, JoAnne Bryant, Troy Sprister, Torrie Bryant, Lillian Darnell, Jewelya Goodwin Emory, Linda Varon, and Cyndy Howe
for celebrating their birthdays with Chromosome 18 by donating their special day on Facebook,
raising funds and spreading the word about our great organization
. Check out all the birthday celebrations
here
.
In honor of Simona Dhanraj's daughter, Gabriella (18p-), 11 year-olds Alexander Dhanraj and John Platt ran a
Watermelon Fundraiser
to raise money for C18. Read more about this wonderful event
here.
Chromosome 18 had the pleasure of participating in the
UTSA Volunteer Fair
on
August 29
. You can read more about this event
here
.
Also on
September 1
, Northeast families gathered for the
C18 Northeast Regional Picnic
hosted by Regional Coordinators,
Kim & Dave Stoddard
before Bob's 41st Birthday & Kickball fundraiser.
18th Annual Botello's Lumber Charity Golf Tournament
was held on
September 24
in Cape Cod, MA. For more information about this event click
here
.
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Be sure to tune in to the
October Facebook Live Event
, October 18th at 1800 (6:00 p.m. CST).
Our next Facebook Live host is TBD
. Contact the office if you are interested in hosting!
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Welcome to the Chromosome 18 Family
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We are delighted to welcome the following families to Chromosome 18.
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Mercan Family, Turkey, 18q-
Cobb Family, South Central, 18p-
Leane Family, Australia, 18p-
Smodij Family, Italy
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Ayala Family, Texas Area
Boj Rodriguez Family, Southeast, Tetrasomy 18p
Olson Family, New Zealand
Karakula Family, Poland
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Upcoming Calendar Events
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September 25 to January 10 -
Yankee Candle Fundraiser
. Online & Catalog Sales. Contact
Kathy Borello
for more information. Visit the online catalog
here
,
Group Number 999966427
.
October 21
-
So Much Fun Paint & Sip Fundraiser
- Plainfield, IL, 3:00 - 6:30 pm - Contact
Kelly Collins
for more information.
December 1
-
Texas Young Professional's Holiday Party
, San Antonio, TX - Featuring Chromosome 18. Contact
office@chromosome18.org
for more information.
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Do you have questions, or would you like more information about something in this newsletter? Contact
office@chromosome18.org
for more information
.
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