The Day Before NIH

Bertrand flew out of Salt Lake:

Over the mountains:

He was an angel on the plane:

The Captain gave him his hat and pinned him with wings:

Bertrand had great dinner with Uncle Bob, Aunt Judy, cousin Eric, cousin Beth, Nana and Papa:

And, an early bed time before a long day tomorrow:

The National Institutes of Health: 2014 Edition

Bertrand's schedule for June 9 through June 13, 2014.

The National Institutes of Health (NIH) is the medical research agency of the United States of America.  Tomorrow, Bertrand and Matthew are headed there to support two separate research studies and push science forward for patients with N-glycanase deficiency:

"Clinical and Basic Investigations into Known and Suspected Congenital Disorders of Glycosylation"

The NIH team will be completing careful phenotyping across all the NGLY1 families. They will also be able to follow everyone over time to conduct a natural history study.  Those pieces together will be key for the researchers validating what they are seeing in cells and the animal models.  This is a key step toward a therapy. NIH also has some research capabilities that are different from things being done elsewhere.  This study should help establish the spectrum of phenotypes for NGLY1.

"Diagnosis and Treatment of Patients with Inborn Errors of Metabolism or Other Genetic Disorders"

The NIH team will use blood, urine and CSF in very small quantities to assess glycomics, lipodomics, proteomics & metabolomics.   They will assess family samples when available, because that provides much more insight into what may be normal in a given family versus what is odd and needs further analysis. According to the NIH, this is not the way many “omics” are analyzed elsewhere and has the potential to identify biomarkers that might help  understand how deglycosylatin defers from glycosylation and why some of NGLY1 patients have evidence of mitochondrial dysfunction. 

Some blog readers may remember that Bertrand went to the NIH back in 2009.  While that visit didn't provide much medical information, Bertrand managed to fall in love with Hannah which made the trip worth it.  :)

Seizure Smart-er

Matthew and I attended the Epilepsy Association of Utah's Seizure Smart Conference.  Given Bertrand's impending travel, we could only attend a few sessions.  The topics were cannabidiol extract, new legislation, and the genetics of epilepsy.  It was an informative and motivating conference.  We were glad we went!  The folks at EAU did a fantastic job, as did all of the speakers.

Look Niki!  We missed you.  You should have been here!  :)

The amazing Heather Jackson with The Realm of Caring.

The fantastic Jennifer May with Hope 4 Children with Epilepsy.

TOMORROW: Get Seizure Smart!

Victoria's Last Day of Toddler Pre-K

Today was Victoria's last day of preschool.  This was her first year of school, and to say that she loved it would be an understatement.  She would ask to go to school every morning, even on the weekends.  Her amazing teachers and wonderful classmates made all the difference.

I still remember Victoria as this bald, tiny 15 month-old pushing Bertrand's wheelchair to the bus stop, and how she would cry as he left, begging to go to school with him.  Even though I wanted to keep my baby longer, Victoria thought she was ready.  She was right.  She never ceases to amaze me.

Lady V with her wonderful teachers Zoie, Kelsee, and Kim.

Patiently waiting for her special letter and photos.

Enjoying a picnic snack.

Playing in a pool as a special start-of-summer treat.

Wearing her special dress from Abuelita and shoes from Titi Lili.

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For weeks, Victoria had been begging to have a tea party with her "best friends" from school.  So, in an act of pre-labor mommy-guilt, we invited her entire class over for an after school lunch/tea party to celebrate the last week of school.  

Victoria was over the moon!  She loved hosting her class, and we enjoyed getting to know her classmates parents more.  Hopefully this will lead to some play dates over the summer, and maybe another "tea party" come the start of school next Fall.  :)

Funny aside:  Victoria planned the menu, helped to cook/prepare several of the courses, and set the table "all by herself".  But by far her proudest accomplishment (that she relayed to all of her guests) was that she washed all of the tea cups and flatware!  It took me a long while to figure out why that would be more impressive than her tasty mini-tarts or place settings.  Although we involve Victoria in cooking and setting the table regularly, Matthew and I are a "dishwasher" people.  Victoria has been taught to simply put her dishes in the dishwasher but we have never actually hand-washed dishes with her!  Yikes.  I guess there will be more dishwashing in her and (unfortunately) my future. 

Bertrand's Epic Story--in Korean!

The gracious Chung Tae-Hoon translated the award-winning story of Bertrand's diagnosis as the first case of N-glycanase (NGLY1) deficiency!  We are incredibly grateful for this effort.  It is our hope that this will help us identify the first NGLY1 patients in Korea, and eventually more throughout Asia.

우리 아이의 살해범 (Hunting down my son’s killer)

이번 포스트는 매트 마이트씨의 포스트 “내 아이의 살해범 (Hunting down my son’s killer)”을 원저자 매트 마이트씨의 허락 하에 제가 옮긴 것입니다. 과연 전장 엑솜 시퀀싱이나 전장 게놈 시퀀싱과 같은 차세대 시퀀싱 기술이 의학적으로 도움이 되느냐, 그게 미래 의학의 한 축이 될 것이냐 모두가 궁금해 하는 가운데 과연 도움이 된다면 어떤 면이겠느냐 하는 부분을 특히 진단과 치료가 어려운 희귀질병 환자와 그 가족의 입장에서 돌아볼 수 있는 귀중한 자료라고 판단하고 다른 분들과 공유하고자 한글로 옮겼습니다. 여전히 많은 희귀질병이 진단도 제대로 받지 못한 채 방치되고 있습니다. 이 블로그가 그런 환자의 가족에게 과연 어떤 걸 시도해 볼 수 있을지 가늠하는데 조금이라도 도움이 되었으면 합니다. 우선 한글로의 번역을 허락해준 원저자 매트 마이트씨와 그 가족에게 감사를 드립니다. 그리고 의학적 표현과 병명에 도움을 주신 이수현 선생님께도 이 자리를 빌어 감사를 드립니다. 그외 틀린 부분은 모두 제 불찰이니 저에게 조용히 연락 주시면 정말 감사하겠습니다. 아울러 원저자 매트 마이트씨는 본 포스트에 담긴 “NGLY1 결핍증” 증세와 비슷한 사례를 모으고 있습니다. 의심스러운 증세를 알고 계신다면 연락해 조언을 구해 보시기 바랍니다.

마침내 우리 아이의 살해범을 찾았다.

삼 년이 걸렸다.

그래도 결국 해냈다.

참고로 총을 든 시시한 강도 따위는 아니다.

우선 한 가지는 확실히 해야겠다: 우리 아이는 여전히 살아 있다.

하지만 내 아내 크리스티나와 나는 우리 아이의 죽음에 책임이 있다.

Click HERE to read the rest in Korean!

Last Day of Kindergarten

Bertrand's last day of kindergarten was a bit anticlimactic after the past few weeks of field trips and celebrations.

I had incorrectly assumed he'd be included in a mainstream kindergarten graduation ceremony the same way he has been integrated all year.  I didn't realize that their program ended a week before his.  I should've simply asked.  Live and learn.

Fortunately, Bertrand's report card made up for everything.  He has really flourished this past year.  His biggest gains at school were in speech and language.   Through both eye gaze and touch, he is accurately and consistently using photos to make choices.  He is also able to indicate "no".  We will be following-up with this at home.

He has also made big strides in feeding himself and drinking independently, as well as using the potty.  He is pretty amazing!

Bertrand will be participating in the Extended School Year program again this summer, so he doesn't have much of a break.  It's a good thing he loves school.  :)