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Apr 11 2014

Update on Lola, 8 years old

Dear Family & Friends:

Lola turned 8 on March 17th. She is in second grade and is trying really ha rd to master reading a nd math.  Her para professionaJ and her teacher both work really hard to ma ke sure she is getting  the services and skills that she needs  to move forward. She is enjoying gymnastics and recently learned how to ride her bike without training wheels.

 

She is an affectionate child; quiet and kind.  When you ask her how she is doing, she always answers in her sweet voice,”goooood,” making the word sound like it has extra o’s.

 

Last week she had her 9th laser surgery and is recovering well. She is on a three month hold on her eye drops for glaucoma (good news as her pressures were stable). Although she still continue to have seizures, we are pleased to say that they are minimal in comparison.

 

Last May we were elated to receive news from Dr. Comi that they found the ca use of Sturge-Weber     Syndrome!!

 

Dr. Anne Comi, director of the Kenned y Krieger Institute’s Hunter Nelson Sturge Weber Center, and Jonathan Pevsner, PhD, director of Bioinfonnatics, confirmed their original hypothesis: the syndrome and the birthmark are caused  by the same somatic mutation (an alteration in DNA that occurs after conception) now known to be in the GNAQ gene.

 

Sturge-Weber sy ndrome (SWS). Is rare, affecting approximately one in 50,000 births, while port-wine stain birthmarks are more common affecting approximately one million individuals in the United States. SWS often leads to lifelong struggles with blindness, seizures, weakness on one or both sides of tile body and mental disabilities. Current treatment options for children with SWS are limited, but include medications to reduce the likelihood of seizures and stroke-like episodes, eye drops or surgery to manage glaucoma, and physical rehabilitation.

 

With this new finding, much optimism surrounds future clinical trials. “We have real hope that in the next five to ten years- perhaps sooner, perhaps a little longer- there will be new treatments developed to inhibit the over-activation of those pathways,” Dr.Comi said. “We hope to move quickly toward targeted therapies, offering families the promise of new treatments for the first time.”

 

We cried tears of joy! We know that without you r help, this might not have been possible.  Your donations helped fund the research that made this amazing discovery.

 

We anxiously need to continue to support Dr. Conti and her research team as they are desperately trying to find a cure.  We rely on fam ily and friends  to help us in our fund raising (“Friend Raising”) efforts…we rely on you. Your kindness in helping us continue to support the research needed to find the cure is appreciated more than ever!

Thank you f or always being there…supporting, caring and praying. You ARE making a difference!

 

Love,

Mitch & Jeanette Ribak

 

Please visit: www.lolasgift.com to make a donation.

Or checks can be made payable to: “Tropical Realty Charity Golf Tournament” 

       

It is the greatest of all mistakes to do nothing because you can only do little- do what you can ~

Sydney Smith

 With courage, genius, and generosity hold hands, all things are possible ~ Unknown

1 comment

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