September 9, 2014

3rd Annual RARE Patient Advocacy Summit


The Global Genes Project’s 3rd Annual RARE Patient Advocacy Summit will be held Sept. 11-12 at the Hyatt Regency Resort & Spa in Huntington Beach, CA.
It’s a chance to learn all about being a patient advocate, proactive and productive in efforts to better the lives of those with rare disease; to be an effective advocate in lobbying elected officials and reach out to major pharmaceutical companies, forming a relationship to bring drugs to patients.
More than 200 participants are expected to attend. For those who can’t be there in person, the conference is also available to view via Livestream. To register for the FREE Livestream Event, please go to: http://globalgenes.org/2014-summit-livestream-registration.
This year’s sessions include:
  • Caregiving: Strategies for Staying Afloat, Presented by Caregiver Action Network
  • The E-Patient Revolution, Presented by Health 2.0 and Smart Patients
  • Patient-Centered Benefit-Risk Assessment, Presented by FasterCures
  • Making your organization an “Unstoppable Charity”
  • Lobbying at the State and Federal Level
  • Transition & Transformation with Rare Disease from Adolescence to Adulthood.
  • Must Have Collaborations for Successful Drug Development

 Two new sessions this year:
  • Deep Dives: Branched-off discussions that will allow small groups to interact with subject matter experts to help them go more deeply into the content of each session have been added to the agenda.
  • Science Briefs: 15-minute science pitches with 5 minutes of Q&A, discussing some of the most promising innovations in science.

Those who watch on Livestream can participate via twitter and Facebook using the hashtag #2014GGSummit.
Read more about the summit hereTo register, visit globalgenes.org/events.

August 5, 2014

Neuroworx Consult

This summer we're finally getting Bertrand out to Neuroworx, a local rehabilitation center that focuses on spinal/neurological physiotherapy.  For years we've heard nothing but good things about Neuroworx from Bertrand's friend Noah.  We're excited to see how Bertrand does with different equipment in a different environment.

At Neuroworx Bertrand is going to try the Lokomat.  "The Lokomat provides intensive locomotion therapy for the treatment of children with cerebral palsy or other neurological disorders."
Why introduce robotic locomotion therapy?
• Functional movement and sensory stimulation play an important role in the rehabilitation of neurological patients following stroke, spinal cord injury, traumatic brain injury, as well as in patients with multiple sclerosis, cerebral palsy or other neurological disorders.
• Administering intensive functional locomotion therapy with manual training requires sufficient staff, is labor intensive and allows only relatively short training sessions.
• Manually assisted gait therapy can be challenging, especially in obese patients or in patients who are spastic.
• Gait pattern and guidance force are individually adjustable to the patient’s needs to optimize the functional training
• Improved patient motivation through visualized performance feedback
• Assessment tools allow easy and reproducible measurements of the patient’s progress
• If needed – easily switch from automated to manual therapy

July 29, 2014

Update: Life after ICU

Photo of Bertrand from last Wednesday.  He was happy to be home!
(Yes, the shirt says "chicks love me."  Thanks, Abuelita.)
Bertrand came home from the hospital last Wednesday.  His bedroom obstacle course includes: pulse oximeter, oxygen concentrator, 5 tanks of oxygen, suction machine, and all the tubes, probes, stickers, and doodads that accompany the former.

Despite the accessories, Bertrand is doing very well!  He is down to nighttime oxygen only (but he refuses to leave the nasal cannula in).

Antibiotics are amazing.

Bertrand wasn't the only one on antibiotics.  Victoria also tested positive for mycoplasma, and it is suspected that my 7 week long "cough" was as well.  (Cue the mommy guilt for inadvertently infecting the kiddos.)

Meanwhile, Matthew had big deadlines at work (and a birthday), we've been fielding an avalanche of emails, and oh yeah, we have a 5 week-old baby.

Please forgive us for the delay.

If you have sent an email, I promise we will get to it.  :)  But, it wouldn't hurt to follow-up.

Winston in one of my baby blankets made by Abuelita Elisa.
Yep, it's blue.  Everyone thought I was going to be a boy.  Surprise!

July 23, 2014

Out of the ICU: Ups and down


This is your lung on NGLY1.




Bertrand is into a regular hospital room.


He improved rapidly yesterday (as measured by his ability to breath with decreased assistance), to the point where I got optimistic he might go home.

Unfortunately, his oxygen kept dropping on room air, so they wouldn't release him.

Today, he's still having lower oxygen on room air alone, but it's only problematic when he's asleep.

It's likely he'll be discharged soon, but with a home oxygen machine and portable tanks.

The NIH sleep study results came back, and they showed 10 central apnic episodes per hour (and low oxygen overall), so we'll also be looking at more complete and permanent solutions for his breathing, especially at night.

July 21, 2014

What does community feel like?

The view outside of Bertrand's hospital room: a double rainbow.

The love and support from everyone has been palpable.

With all our heart, thank you.

Rushing Bertrand to the ER and the subsequent PICU admission were scary.

But, we've seen worse.

Bertrand is tricky to diagnose, but doctors managed to identify the cause of his illness quickly. And then to have it be bacterial and treatable? That is all good news.

The most surreal part of this entire episode has been that we had an NGLY1 community/family behind us for the very first time.
  • The Wilseys were the first to know we were headed to the ER--before our own families. 
  • The Leftwich family coached us on exactly what to expect and do with mycoplasma pneumonia and offered support. 
  • The German NGLY1 mom sent funny memes which cheered me up.
  • And, Pam Stinchcomb was my angel, holding my virtual hand through a mini breakdown. (The 19th was Winston's 1 month birthday. Will every one of his birthdays be in the hospital and all about his older brother? Will he resent Bertrand? etc.)

To be clear, we've always felt love and support from our friends in the broader rare disease / special needs / undiagnosed community, but to have people who knew *exactly* what we were going through, and *exactly* what we were feeling? It was transcendent.

I'm overwhelmed with gratitude and joy.

July 20, 2014

In the PICU: Stabilizing

A very happy Bertrand, only days ago.  Photo by Phil Toledano.

Bertrand had a rough night, but I think it was largely because he wasn't allowed to eat.  The concern was that he was still at risk from aspiration during intubation.

During rounds in the morning, I explained that much of his current distress was now due to hunger. (Bertrand's hunger cry is distinct from his pain cry. And, I pointed out that he kept trying to eat the tubes near his mouth.)

I convinced them to start him on a little Pediasure through his nasal-gastric tube, and he stopped crying in minutes.  He's now on a continuous feed and has been relatively peaceful.

In fact, he's slept most of the day, after about 36 hours of being too uncomfortable to rest.

He's awakened every two hours to vacuum out his lungs.  It sounds about like throwing a wetvac in a swamp, and while it's uncomfortable, he clearly feels (and breathes) much better afterward.

The mechanical respirator hums in the background, giving Bertrand's breathing a Vader-like quality.

Bertrand's vitals have steadily improved since this morning.
His heart rate periodically dips into the normal range; his blood pressure is normal; his oxygenation is at 91% with only 40% assistance; and his breathing is much less labored.
The labs from this morning showed that the infection is not worsening, and it's expected to improve steadily from today.
Our hope is that he'll improve enough to be transferred to a regular room tomorrow.