September 16, 2015

NIH-backed Undiagnosed Diseases Network launches!

The NIH-backed Undiagnosed Diseases Network (UDN) is launching today!

If you or someone you know has been on a challenging diagnostic odyssey, it's time to apply to the UDN:

The UDN is a nationwide extension of the NIH's highly successful Undiagnosed Diseases Program (UDP) to clinical and research sites around the country.

I've been working with this group of clinicians and researchers for the past year, and I can tell you that it's immensely talented and caring group.   They really do want to make a difference in the lives of patients.

Please spread the word!

September 13, 2015

(Almost) Wordless Sunday

Life continues to move at a pace faster than we can process.

Rest assured that despite our silence, good things are happening.  (In fact, too many good things might be the best way to describe it.)

Given the speed with which we're moving, it's important take a moment from time to time to appreciate the "little things."

I've been on the road almost continuously for many months now,  but I've found myself watching this video from the past month over and over, drawing from it a kind of strength that only flows from child to parent:

I hope you enjoy:

August 12, 2015

Wordless Wednesday

Bertrand is back in action with his intensive therapy!

June 4, 2015

Back at NIH

Bertrand and Winston have been hanging out at NIH for year 2 of the CDG protocol for NGLY1 this week. 

Here's a quick pic to show the two brothers in action. 

2015 has been a non-stop collection of sprints for the entire Might family. 

We're hoping things will even out sometime this summer!

April 20, 2015

Boston for Bertrand

Bertrand's runner, Pam (#28444) and her husband yesterday.

Today, Pamela Lynch (Bib #28444) is running the Boston Marathon for our sweet Bertrand.

In his name, she is raising funds for the NIH's Undiagnosed Diseases Network (UDN).

You can make a tax deductible donation through NORD to support the UDN and give undiagnosed families answers and hope HERE.

Pam is a regional manager for Genzyme, an amazing wife, mother to 2 kids, athlete, and an advocate for rare disease diagnosis, research and treatment.

Bertrand was supposed to be cheering her on today at one of the checkpoints in Boston.

Instead we will be FaceTime-ing with her from home as Bertrand's cold progressed to pneumonia, and we were unable to make our Friday flight.

(I'll update on this later.  He is feeling much better thanks to antibiotics but not 100%.)

We are honored to have her and the Running 4 Rare Team championing Bertrand, NGLY1 and the rare disease community.

As we well know, a diagnosis is the first step toward understanding, treatment and a cure.

The groundbreaking work the NIH's UDN is doing deserves all the support we can muster.

All families deserve answers.  They deserve hope.

Thank you, Pam!  Your Running 4 Rare is making a difference!  We love you!

April 7, 2015

Dubby's 9th Month

Just a quick post to share our adorable 9 month-old Danger Dubby.
His favorite song is "If you're happy and you know it." He requests it by clapping his hands.
Even sick (like he was in these photos), he is always happy!
He waves, blows kisses, and can point to body parts (eyes, nose, mouth, etc).
He is almost walking.  Eep!  He is fast becoming a toddler. *sniff sniff*
Everyone who meets him, loves him.  His parents most of all.  :)

All photos by Staci Cummings of Sweet Envy Photography.

February 9, 2015

HB 94: Utah "Right To Try" Act

HB 94 is Utah's "Right to Try" Act.  Right to Try allows terminally ill patients access to investigational medications and devices that have completed FDA phase one safety testing.

We are extremely grateful to Jonathan Johnson, Rep. Gage Froerer, the Goldwater Institute, and fellow rare advocates Jen and Stan Summers for helping to get this important piece of legislation to the floor.  

Many thanks to Jen (Talan's mom) for the photos!