Mixed Nuts: An update on the RDH12 Research

Quotes

"There is no better way to thank God for your sight than by giving a helping hand to someone in the dark." - Helen Keller
When I stand before God at the end of my life, I would hope that I would not have a single bit of talent left, and could say, "I used everything you gave me." ~Erma Bombeck
You may never know how strong you are, until being strong is your only choice.- Unknown
Keep your face to the sunshine and you cannot see a shadow' ~Helen Keller
Promise me you'll always remember: You're braver than you believe, and stronger than you seem, and smarter than you think.
Don't cry because it's over, smile because it happened."- Dr. Seuss
"Life is 10% what happens to you, and 90% how you react to it."
"God doesn't give children with disabilities to strong people: He gives them to ordinary, everyday people, then He helps the parents to grow stronger through the journey. Raising a child with special needs doesn't TAKE a special family, it MAKES a special family."Author Unknown
I have been driven many times to my knees by the overwhelming conviction that I had nowhere else to go – Abraham Lincoln
Be always at war with your vices, at peace with your neighbors, and let each new year find you a better man. ~ Benjamin Franklin
There are only two ways to live your life. One is as though nothing is a miracle. The other is as if everything is a miracle - Albert Einstein
The journey of a 1000 miles starts with a single step
Sometimes in the middle of an ordinary life, love gives you a fairy tale
Where there is great love, there are always miracles - Willa Cather
The Difficult we can do immediately, the impossible takes a little longer
Doing what you like is freedom. Liking what you do is happiness
There are two lasting bequests we can give our children. One is roots. The other is wings.
Be the change you want to see in the world
Don't tell God how big the storm is, tell the storm how big Your God is..........
Everything has beauty, but not everyone sees it
Fall down seven times - get up eight - unknown
Despite our differences, we sink or swim together
Life may not be the party we expected, but while we are here, we might as well dance
"The man who moves a mountain begins by carrying away small stones." -Confucius

Wednesday, May 7, 2014

An update on the RDH12 Research

Last Monday, Mat and a few of our other LCA families had a chance to go to Michigan to speak with our RDH12 researchers Dr. Debra Thompson and Dr. Robert Ali. It was a good meeting, and the researchers seeing the kids did a lot to motivate them to get moving.

Mat wrote a little blip that I posted on our RDH12 group on facebook, so I will add that here, and then a few pictures from the trip. Only Finley and MAt went and I stayed with the other two. They had a great time, and the kids getting together is so important. I hope we can get them all together more often.

"On Monday, a number of RDH12 families traveled to the University of Michigan in Ann Arbor for a face to face meeting with Drs. Debra Thompson and Robin Ali. Dr. Thompson’s lab, with funding from the RDH12 Fund for Sight, has been developing a gene therapy for children with LCA due to mutations in RDH12. Dr. Ali is a clinician who was involved in the first gene therapy for LCA and has now partnered with Dr. Thompson to bring the RDH12 gene therapy to patients. Drs. Thompson and Ali provided a comprehensive review of all of the research they have conducted on RDH12 to date as well as their plans to get approval from regulatory agencies to start treating people. In addition, the families were given a tour of the laboratories at the University of Michigan as well as provided the opportunity to meet other researchers and clinicians working on retinal diseases. The message that was delivered to the visiting families was one of hope and promise. The current plan, as relayed in the meeting, is to have a meeting with the FDA in the fall of this year. This meeting is an important milestone for the program. It will determine just how long it will take before patients could be potentially treated. If the FDA responds positively to the data that Dr. Thompson and others have generated, it opens the door to filing for a clinical trial start. Once that happens, the next big hurdle and therefore the next big cost will be manufacturing the gene therapy in the quantities and quality required for use in humans. In order to make sure Dr. Thompson and Dr. Ali can seamlessly move to this next stage, the RDH12 Fund for Sight must be ready with the required support. And with continued backing of the RDH12 community of friends and family, we will hopefully be able to meet this goal. The meeting closed with a word of thanks from Drs. Thompson and Ali for the assistance of the RDH12 Fund for Sight. Without the grants that the Fund has been able to provide, we would not be talking about plans for a clinical trial and treatment for our kids would still be a distant dream. And of course, the RDH12 Fund for Sight thanks Drs. Thompson and Ali for their hard work on our children’s behalf and their continued dedication to this cause."

Dr. Thompson talking to the kids and adults as she shows them around the lab.

Dr. Thompson's lab with the kids

Dr. Thompson and Dr. Ali

The meeting

4 of the kids that went. Left to right: Abigail (age 9), Ben (age 8), Bella (age 8), Finley (age7). Just 4 of the 19 kids we know about with RDH12. When they are together, if you look closely, you can tell they all share the LCA defect.