Category: Rare Diseases

November 2022 Support Group Meeting (Webinar)

9/5/2022

When: Saturday 5 November 2022 10:30AM - 11:45AM PT
Where: Via Zoom (Email CureUndx@gmail.com to receive webinar link)

Elia Mora, Ph.D. Platform Manager
Patients Engagement in Research Group at
Sant Joan de Déu Barcelona Children's Hospital

Share 4 Rare

Participate in patient-centered rare diseases research with Share4Rare

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Support Group Resources (July 9, 2022)

7/15/2022

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July 2022 Support Group Meeting (Webinar)

4/20/2022

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When: Saturday 9 July 2022 10:30AM - 11:45AM PT
Where: Via Zoom (Email CureUndx@gmail.com to receive webinar link)

Tracy Dixon-Salazar, PhD Executive Director
Lennox-Gastaut Syndrome (LGS) Foundation

Uncontrolled Seizures, Intellectual Disability, and Resources Available from the LGS Foundation

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Matthew Bainbridge, MSc PhD, Principal Investigator, Rady Children’s Institute for Genomic Medicine (Meeting August 12, 2017)

8/12/2017

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Meeting Notes

No diagnosis. What now? - When tests come back negative, explore more testing, enroll in research, re-analyze data periodically as new knowledge is found and sometimes re-test is worth doing every 3-5 years.
Research genetic testing – Apply to programs like the Undiagnosed Disease Network (UDN) or Centers for Mendelian Genomics (CMGs at Baylor-Hopkins, Broad Institute, University of Washington and Yale University). Use Google Scholar to find and connect with a researcher working in your disease area.
Pros and cons of research vs clinical – Research is low cost or free, more novel findings and may have thorough work up (UND). But very slow process that can take years. Keep in mind that research labs are not regulated like clinical labs are.
Have a diagnosis? Now what? – Always ask if there now needs to be a change in care management? What clinical trials are available for the disease? Seek and reach out to a researcher in this field. Find a support group and connect with other patients/parents.
Desperate but cautious – While exhausting everything possible to help your child, be careful. Do not waste money on treatments that are not available in the USA, not supported by science or your doctor thinks are not credible. Be wary of health fraud scams.
The right test – There are many genetic tests available now. Have you had a genetics consult to go through results? Do you need more testing and will testing be approved or covered?
Communications – Don’t give up on reaching out to doctors for testing or referrals to other programs. Talk to your genetic counselor. Don’t be shy to contact scientists working on your disease area. “Scientists are like bears they are more scared of you than you are of them.”

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August 2017 Support Group Meeting

6/5/2017

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When: Saturday 12 August 2017, 2-5PM
Where: Ronald McDonald House 2929 Children's Way San Diego, CA 92123

Matthew Bainbridge Ph.D Principal Investigator, Rady Children's Institute for Genomic Medicine

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Importance of Advocacy in Medical Diagnosis and Treatment - Gay Grossman (Meeting May 21, 2016)

5/21/2016

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Meeting Notes

Gay Grossman, Founder ADCY5.org & Parent Advocate

Time for yourself and your marriage. Be creative any way you can to give yourself a break.
Reach out and connect with everyone. Other families who sit next to you in the waiting room could give you new insight.
Never stop Learning. Reading, connecting and asking questions.
Don’t doubt yourself. As a parent you know your child. Don’t let anyone, medical professional or otherwise make you doubt what you see is not right just because your child does not fit in a particular disease category.
Ensure your child has all the equipment and tools to enable them equal opportunity and access to education as other students. Work with school to get the software, materials and technology your child needs.
Be persistent and patient to find the right doctor and procedures. Always ask questions.
When things get very rough know that you are not alone. There are other families out there too. When things seem impossible, break it down and tackle
Take time to help your child make friends. Educate your child’s friends and promote interaction.
Build a community. Build a team of people who know and who can help.
Share. The more you share with others the more you help yourself and others. When media ask to write your story, always ask them to include your child’s gene mutation in the article. This will help you find others like your child.
Teach your child to advocate for themselves and educate those around them so what you advocate can in time be released to them.

Resources

“We Gained Hope.” The Story of Lilly Grossman’s Genome, National Geographic 3/11/2013
http://phenomena.nationalgeographic.com/2013/03/11/we-gained-hope-the-story-of-lilly-grossmans-genome

La Jolla teen honored at White House Film Fest, La Jolla Light, 3/14/2014
http://www.lajollalight.com/news/2014/mar/13/la-jolla-teen-honored-at-white-house-film-fest/

Letter to the Editor: Trail-blazer Lilly Grossman starts petition to make schools more accessible to disabled students, The Quaker Campus, 2/4/2016
https://thequakercampus.com/2016/02/04/letter-to-the-editortrail-blazer-lilly-grossman-starts-petition-to-make-schools-more-accessible-for-disabled-students/

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2016 Celebration of Mothers

5/7/2016

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When: 2-5PM May 21, 2016
Where: Ronald McDonald House 2929 Children's Way San Diego, CA 92123

Gay Grossman, Founder and Parent Advocate, ADCY5 will talk about the importance of advocacy in medical diagnosis and treatment.

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Summer 2015 Support Group Meeting

7/31/2015

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When: 2-5PM August 1, 2015
Where: Ronald McDonald House 2929 Children's Way San Diego, CA 92123

Janis Sherwood, Founder, Fight ALD, will share her story and the importance of early diagnosis of adrenoleukodystrophy.

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Meetings

November 2022 Support Group Meeting (Webinar)

Support Group Resources (July 9, 2022)

July 2022 Support Group Meeting (Webinar)

Matthew Bainbridge, MSc PhD, Principal Investigator, Rady Children’s Institute for Genomic Medicine (Meeting August 12, 2017)

August 2017 Support Group Meeting

Importance of Advocacy in Medical Diagnosis and Treatment - Gay Grossman (Meeting May 21, 2016)

2016 Celebration of Mothers

Summer 2015 Support Group Meeting

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