Bertrand's First Day of Kindergarten

Today was Bertrand's first day of Kindergarten!

Doesn't he look handsome?  :)

It was emotional.  

There was a time when we didn't expect him to make it this far.

We don't take this time--this gift--for granted.

Bertrand is lucky to have a team of folks who love him, including his new teacher Noreen, and his bus driver, Ernie, and bus aide, Julie!

We're so proud of our little champ.  :)

Go, Buddy!  Go!

Victoria's First Hair Cut

In preparation for the start of school, the kids got their hair cut today.  

It was Victoria's first hair cut.  

She was scared at the beginning, so Bertrand had to show her how it was done.  

After watching Bertrand bravely get his hair cut, Victoria sat like a pro.

Bertrand's new hair cut "reveal" will be tomorrow for his first day of Kindergarten!  

Spoiler alert: He looks handsome.  ;)

A rock and a (regulatory) hard place.*

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.

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*This is a previously unpublished post from May 2012.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.  :)

Utah Easy To Love

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.

Picture Schedule Workshop

Sensory-Friendly Movie Screening

N-glycanase deficiency is an official disorder.

On June 12, 2013, Bertrand and N-glycanase deficiency made it into the Online Mendelian Inheritance in Man® (OMIM). The entry for N-glycanase deficiency is #610661 and it is cross-listed with entry #615273 for Congenital Disorders of Glycosylation, Type IV.

"The OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 12,000 genes. OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries contain copious links to other genetics resources.

This database was initiated in the early 1960s by Dr. Victor A. McKusick as a catalog of mendelian traits and disorders, entitled Mendelian Inheritance in Man (MIM). Twelve book editions of MIM were published between 1966 and 1998. The online version, OMIM, was created in 1985 by a collaboration between the National Library of Medicine and the William H. Welch Medical Library at Johns Hopkins. It was made generally available on the internet starting in 1987. In 1995, OMIM was developed for the World Wide Web by NCBI, the National Center for Biotechnology Information.

OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, under the direction of Dr. Ada Hamosh."

Our heartfelt thanks go out to Dr. Vandana Shashi, Kelly Schoch, Dr. Anna Need, and, last but not least, Dr. David Goldstein at Duke University for making the impossible possible.  As the Mights like to say, "keep pushing!"  :)