On August 31, 2013, our family was fortunate to attend a Signing Time Concert near our home. We have long been Signing Time fans--especially Bertrand and Victoria. In fact, we have met Rachel Coleman in person before, at a benefit for Project Ghana.
In the video* below, Rachel is singing her lovely version of Twinkle Twinkle Little Star. At about 1:40 into the video, as she sings the line, "I've always believed in you", she points directly at Bertrand, and I start to cry. Her voice then wavers with emotion as she sings, "you are my shining star."
It was a concert and memory we will treasure.
* I took the video with permission! No, I did not bootleg Signing Time. ;)
I usually let Victoria decide what to wear and today, for her first full day of school, was no different.
Victoria picked out a PINK dress and PINK (not quite matching) headband. She also *insisted* on wearing PINK shoes, and on bringing a PINK purse and her PINK doggie to school.
Today we had a great time with our friends and family at Porchfest. Wow. There were some very talented artists! Can't wait for Porchfest again next year. :)
Early this week we had a skype chat with the family of the 2nd living boy with N-glycanase deficiency. (In case you're keeping count, that is known NGLY1 case #10.)
Yes: I finally got to see and interact with another NGLY1 child! Oh, my heart! He is so beautiful and dear, and his mannerisms are so similar to Bertrand's!
The experience was *profound* ...and a bit bittersweet. While I am overjoyed to find even more families who can relate (and his parents are amazing!), it breaks my heart that other children are facing the same struggles as our Bertrand.
Seeing that sweet boy put things in perspective. We are fighting for more than just Bertrand.
As both my kids start school, I will start work--for all kids with N-glycanase deficiency.
Watching the state of science over the past 4 years has been simultaneously hope inspiring and heart breaking. Two years ago, I reported that autologous stem cells were being used to cure human corneal blindness. Since then, hundreds of people in India and pockets around the world have benefited from the technique to use a patient's own adult stem cells to successfully cure corneal blindness without risk of rejection! But, this surgery is not available in the United States. It won't even be in clinical trial for a number of years.
Dr. Graziella Pellegrini (interviewed above) developed the stem cell transplantation technique as reported in the New England Journal of Medicine.
You can probably hear the gnashing of my teeth from wherever you are reading this.
*This is a previously unpublished post from May 2012. At that time, two ophthalmologists recommended that Bertrand undergo surgery to help with corneal scarring. This surgery, tarsorrhaphy, is disfiguring. The eyelids are partially sewn together to narrow the eye opening, thus reducing corneal exposure.
Dear Ryan was among the first google results for tarsorrhaphy.
I was heartbroken. The state of medical science left me in despair. Bertrand deserved better and I knew it existed, but it was not yet approved in this country.
Due to corneal scarring, Bertrand has reduced corneal sensation and doesn't blink. If his corneal sensation were restored, we are confident he would be able to blink and retain sufficient moisture on his own.
Unfortunately, a corneal transplant isn't a realistic option until after he reaches adulthood, as children have a ridiculously high rate of corneal transplant rejection.
Yes, we considered taking him to India for the autologous stem cell surgery.
But, short of that, we begged Bertrand's doctors to give us a shot at fighting the corneal erosion.
They did. ...and it worked.
Today, August 19, 2013, at Bertrand's ophthalmology appointment, the scar on his left eye is no longer visible, and the scar in his right eye is significantly reduced.
Bertrand no longer has to see the doctor every 3 months--just every 6 months.
This miracle of sight is thanks to lotemax (steroid) ointment 3 times a week, systane ointment or refresh drops every 2 hours (minimum), humidifiers, and last, but not least, julbo sunglasses, which reduce ocular surface evaporation and look awesome at the same time.
It's long past time I should publish this, and celebrate. :)
I just re-discovered "Utah Easy To Love". (I found them last year through U-FIT, but never followed up.) It is a relatively new support group for parents of children with special needs in Utah. According to their website:
"[The goal of Utah Easy to Love is] to provide a place for parents and family members to meet monthly and share experience, strength, give hope and awareness, to other families who have similar experiences raising children with ASD, ADD/ADHD, SPD, Anxiety and other mental health, developmental, medical or behavioral struggles. Through sharing in this experience of raising these ‘hard to raise’ kids, we grow stronger and more resilient."
Utah Easy to Love is currently holding 2 support meetings a month, one in Salt Lake and one in Davis County. They have recently become a Non-Profit group which will help it expand into more than just a monthly support group. They can be found at UtahEasyToLove.org and on Facebook.
