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 

Meeting Notes

1. The Office of Client Rights Advocacy (OCRA) is a unit of Disability Rights California (DRC).  OCRA provides free legal services to regional center clients and people with questions about regional center eligibility.  DRC provides free legal services to Californians with all types of disabilities.
2. Regional Centers are nonprofit corporations with contracts with the State. Their focus is on people with developmental disabilities and their families by development Individualized Program Plans (IPP) and help to provide, secure or purchase services. 
3. The 4 steps to Regional Center eligibility are developmental disability, substantial disability, onset before the age of 18 and expected to continue indefinitely. Disabilities that are solely physical, psychiatric or learning are excluded.
4. Intake meeting is 15 days after filing of application and in 120 days a decision is reached. Be sure to appeal within 30 days of receiving a notice of action if denied. Do not delay.
5. Once eligibility is determined and application processed and approved, there is life long entitlement to services. 
6. Every Regional Center client has a Service Coordinator who helps you access the services you need and follow through to ensure that you receive it.
7. Covered services should be listed in the IPP and Notice of Action issued for denied services.
8. To help ease the application process, provide copies of helpful records. Do not rely on signing release of information. 

 
Office of Clients’ Rights Advocacy 619 239 7877

A heartfelt thank you to all mothers of rare and undiagnosed children. You are courageous, strong, resourceful and resilient. Your immense love and persistence in advocating for the well-being for your children transcends through this community, you pave the way, share your wisdom and inspire hope for other families on the long journey to diagnosis and treatment.

There is no doubt that all mothers sacrifice and stay strong for their children amidst the most difficult situations. As mothers of the rare and undiagnosed, a multitude of challenges push strength and self- sacrifice to the verge of becoming superhuman. Faced with perplexing circumstances while under the constant squeeze of stress and perpetual lack of rest. Faith is challenged, finances drained and worry is heavy on your heart. You do not give up despite what you are told. You keep going, no matter what the day may bring. Your child’s quality of life is such a high priority that you have forgotten your own.

You are courageous to forge ahead despite what limits in lifespan and abilities you have been told your child has. To choose between a high risk procedure or surgery that could lessen quality of life maybe even end an already medically fragile life or to live life out to the fullest comfortably and with dignity.

You have strength you didn’t know you had both physically and emotionally.  To keep it all together and carry your child through it all. Runs to the ER, stays in the ICU, invasive procedures and tests. And when the time comes and the reality of death is imminent, you know that you would trade places with them in a heartbeat. But instead, you are faced with the heart-wrenching task of letting them go on before you.

In pursuit of answers and possibilities you become resourceful. Scouring the internet, reading pages upon pages of research to stay abreast of new technology and developments in science and medicine. Reaching out to connect with specialists, scientists and other parents, learning from them just as they also learn from you.

You show resilience as you dance delicately on the fine line between protecting the health of your frail little one and allowing them freedom to experience the joys of childhood. You carry your burdens with grace every single day yet somehow, someway despite the unimaginable pain, and countless challenges you also find incredible joy too.

On this Mother’s Day, Keep moving forward, give hope to one another, you have superhuman abilities and know that you are appreciated not only being an advocate for your children but leading the way for other families like yours too.

In Good Health and Always Hope.
​
Caroline Cheung-Yiu
Founder and Patient Advocate
San Diego Undiagnosed Family Support Group

Meeting Notes

1. Genetic testing looks for variants or changes in the DNA that may or may not be disease causing.
2. Results of genetic testing involve both sequencing and interpretation:
   1. Sequencing: Reading the letters of the DNA and putting them in order
   2. Interpretation: Gathering and reporting evidence about what the letters mean in the context of human disease
3. Not all rare diseases are genetic; although a lot of genetic diseases are rare!
4. There are many different genetic testing options:
   1. Karyotype and microarray tests look at structure of the chromosomes (condensed DNA).
   2. Exome sequencing zooms in to look at smaller variants. Although the exome is estimated to be only 1-2% of the whole genome, variants in exome are thought to be the most common causes of human genetic conditions.
   3. Genome sequencing has the ability to look at the structure of the DNA and smaller variants in the exome and beyond. At this point in time, the interpretation of genome sequencing is a lot like receiving an exome sequencing test + a microarray.
   4. Exome and genome tests which have a primary goal of aiding in the diagnosis of rare disease are most helpful when other members of the family are available to participate in the analyses as well (ex: trio analysis with mom, dad, and child).
   5. Different laboratories/studies will give back different findings, including a clinically significant findings, research candidates, secondary findings, and others. Some laboratories will give back data files, including or VCF (organized raw data, transferrable to most other laboratories) BAM (raw data, only transferrable to laboratories with a comparable workflow). These data files are most helpful to other laboratories which have the processes, software, and expertise in place to re-analyze the data.
5. Genetic testing for use during the diagnostic process is very dynamic process:
   1. Though the science and technology behind genome sequencing has advanced quickly, we are still learning a lot about the significance of variants in the genome every day.
   2. There is dynamic interpretation of results over time as new information on genes and mechanisms of diseases are gathered within the scientific community.
   3. Resequencing is the process of reading the letters in the DNA again. This may or may not require a new sample. We expect the vast majority of a sequence to be the same during resequencing. Resequencing is most helpful to a family when sequencing technology changes and new technology may identify more candidate variants for interpretation.
   4. Reanalysis/reinterpretation is the process of further researching a candidate variant to see if more information is available which supports a change of variant classification. This is most helpful as new various groups contribute more data into the scientific community about gene function and mechanism of diseases.
6. The iHope Program at Illumina partners with clinicians and clinical organizations to offer whole genome sequencing and interpretation at no cost to families. The best way for a family to submit an application is through Rare Genomics Inc. (an iHope clinical partner) online at http://www.raregenomics.org/ihope/.

Resource
"Free Clinical Whole Genome Sequencing to Children with Undiagnosed Genetic Diseases"
http://www.raregenomics.org/ihope/

When: Saturday 4 February 2017, 2-5PM
Where: Ronald McDonald House 2929 Children's Way San Diego, CA 92123 

Alicia Scocchia and Erin Thorpe, Genetic Counselors from Illumina will talk about the use of genomic- based testing during the diagnostic Odyssey.

Meeting Notes

1. Importance of Self-Care - Parents of a special needs child are especially challenged.  Try to make time to exercise, carve out time with your unaffected child(ren), and spend time alone with your spouse to ensure your family foundation stays strong.  Find something bigger than yourself in to believe in like faith and community.
2. Be patient with yourself – Don’t beat yourself up when things aren’t going right all the time.  Not all stories are success stories, but many are stories of hope.  None of us are perfect; just move on when things don’t go your way.  Keep moving forward.
3. Respite and rest – Have trusted family and friends take care of your child(ren) so that you can have some time for you and your spouse. Even a short time for a break or even just to rest and sleep. You cannot run on empty. It is a necessity to refresh and refuel.
4. Be thankful – This may seem incredibly challenging at times but try to be thankful for what you have – your family, your life, your children.  Write these things down and the list will keep building, which will change your mood and your predisposition.  Being thankful can help your mood and balance, and in turn helps you move forward.
5. Use your voice – Do not feel that when you are in the room with a specialist that you don’t have a voice.  You are your child’s voice and you must speak up.  Sometimes it is difficult communicating with a specialist – perhaps the specialist is dismissive or you are speaking with anger and frustration – this leads to a situation that’s not helpful for anyone. 
6. Prepare your list – Go to the doctor appointment with your list of biggest concerns, key needs, your goals, etc. so that you can make the meeting productive.  Consider emailing your specialist ahead of time.  Keep it short and focused.  Highlight top two to three things in each category, try to get the priorities down to one to two paragraphs.  Brevity and focus makes you email/list much more likely to get read and responded to.
7. Leverage all resources – Access all the resources you have available and continue to search for new ones with confidence and empowerment.  Make networks and connections.  Build and be ready to lead your team of specialists.  Try to build a team – clinical or personal networks - that will connect.  It will take time.  You don’t know who might be a resource unless you engage them.
8. Don't give up - No matter how tough the road, don’t give up searching for answers or making connections. Keep moving ahead, one step at time.
   

Resources

"Mother's Determination, Next Generation Sequencing, art of medicine provide solution for twins"
https://www.bcm.edu/news/genome-sequencing/next-gen-sequencing-solutions-for-twins
 
"The Beery's Dystonia Support" website
http://dystonia.thebeerys.com/
 
Finding Hope in Whole Genome Sequencing: Retta Beery at TEDxYouth San Diego 2013
http://www.hopeknowsnoboundaries.org/2015/04/19/finding-hope-in-whole-genome-sequencing-retta-beery-at-tedxyouthsandiego-2013/

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

Retta Beery, FOUNDER & PRESIDENT, HOPE KNOWS NO BOUNDARIES, will talk about the importance of advocacy and self care. 

Meeting Notes

​When a child, due to a disability, illness or other disorder, is dependent on life sustaining medications, equipment or treatment in their daily activities, they are considered “medically fragile.”
​

1. Have Hope - Look beyond the medical situation your child is in. As a parent you are almost always focused on the immediate health and medical needs of your child just to get through the day. To have hope you need to see the future. Pull yourself away by asking yourself these questions.
   • What do you want to see your child doing in 5 years?
   • What would help you and enable your child be more independent?
   • What do you want to see your child doing in 10 years?
2. Do not be intimidated – In any setting, educational, medical or care, you know your child best. Stand firm on what you want that is in the best interest of your child. 
3. Do not be afraid to ask – You have every right to do so at school and at the hospital
4. Inclusion in General Ed class – Your child needs the social interaction as well as hear the vocabulary spoken in an age appropriate class.
5. Take videos – Document what and how your child is learning at home.
6. Brain Gym (see handout) – A movement program based on the principle that moving with intention leads to optimal learning.
7. MOVE program (see handout) – Mobility Opportunities Via Education/Experience. Improves mobility skills by combining an individual’s current skills with an instructional process.

Resources

Brain Gym
http://braingym.org/about
 
MOVE Program
http://www.move-international.org/what-is-move/
 
San Diego Regional Center Activities
http://sdrc.org/resources-support/recreation/
 
Gina Clifton
Email: gclifton@sandi.net