Meet the folks at Dr. Freeze's lab.

This is a video of the scientists working in Dr. Hudson Freeze's lab at Sanford-Burnham Medical Research Institute. They're talking about their inspiration: the patients with Congenital Disorders of Glycosylation (CDG). CDG is the group of genetic disorders in which Bertrand's disorder, N-glycanase deficiency, roughly fits.

The second person in the video is our beloved Dr. Ping He! He is running most of Bertrand's experiments, and we couldn't be more grateful to him, Hud, and everyone else in the lab.

The patients may be their heroes, but they are ours.  :)

Cousin Time & "Talking" Time

Nothing quite like some adorable kiddos playing together to make things seem right in the world again.  The first two videos are of Bertrand and his 5 month-old cousin Gabby playing together. The last video contains some of Bertrand's funny vocalizations; the panting in particular is new within the past month.
(Please ignore my silly mommy/auntie commentary.)

Communication Matrix Profile

The preceding communication matrix describes Bertrand's current communicative capabilities.  I loosely interpret the results as, "my son is a potential genius trapped in a body that won't do what he wants it to do."  You've got to admit, he sure works what he's got!  I am absolutely certain that if we can find a way to improve the condition of his nerves and muscles, we'll improve his communication.

Happy 2nd Birthday, Victoria!

Our little miss sunshine, the harbinger of mischief and joy, turned TWO!

We couldn't be more proud or happy to call her our daughter.

Victoria: Mama, Daddy, and Buddy love you!

"Me and My Chair"

I overheard the following Sesame Street clip while Bertrand was doing his stander time. 

 While the animation was unfamiliar, I was hit with deja vu.

A brief internet search confirmed I remembered the song from watching the original as a kid!

While some things have changed, the message of love and acceptance is timeless.

We love Sesame Street.  :)

Reflection on life and birthdays

Victoria turns 2 this Sunday.  Where did that time go?!  I am continuously reminded of the saying: "the days are long, but the years are short." 

I have a funny relationship with my kids birthday parties.  It all started with Bertrand's first birthday.  Being my typical self, I said, "He's a baby.  He doesn't care about parties!  He has everything he needs."  So, we did a small dinner with family.  

We didn't even buy him a present.

A few months later we learned that Bertrand's condition was fatal.  He could very likely die before his second birthday.  Bertrand could die never having had a birthday party.  

This would not do.  

I don't know about you, but my birthday parties are some of the most vivid and loved memories of my childhood.  Big parties with lots of food are a hispanic tradition.  

Bertrand couldn't possibly die without having had one.  So, he had a huge 18 month birthday bash.  It went against everything in my nature (party person, I am not), but I made sure he had a party all of us would remember.

Since then, Bertrand has had more (in my humble opinion) fabulous birthday parties.  And when Victoria came along, we followed the trend.  Her first birthday was small but fantastic.

Then this year came along.  My wise brother-in-law Steve said that all of his birthday parties were family affairs.  What was wrong with that?

What indeed?  Nothing.  Absolutely nothing.  

Matthew is flying out to Germany and will be missing Victoria's actual birthday.  A small non-party birthday celebration suited us just fine.  Tonight we'll be having a small dinner with family.  

I was fine with this, until the last couple of days.

Wednesday night I learned that our dear friends Javier and Noralia's daughter Iara had passed away.  I spent the entire evening clutching Bertrand and sobbing.  (He was a good sport about this.  He kept laughing.  I tell myself he was happy that Iara was free.)

I woke up with gritty eyes and a headache the next day with the intention of buying Iara's rose for my garden, but something stopped me.  Later that morning, with a sinking feeling, I read about Gavin's condition--multiple seizures and three cardiac arrests in less than 24 hours.  My heart was heavy but I knew I'd be ordering another rose.  

Typically, I only buy rose plants to memorialize the children I've known in "real life".  But even though I haven't physically met Gavin or even Iara, I am more emotionally connected with them and their wonderful parents than with many of our "real life" family and friends.  These children and their families are a continuous source of strength and inspiration for me.  It's an honor that I get to care for them (even if in a small way) and keep their memory alive.  

Its a peculiar, heart-wrenching kind of joy when I see Victoria point to one of my plants and say "flowa fo Nannah" (translation: flower for Hannah).  I tell her how Hannah loved the colors pink and yellow--just like Victoria.  And how Hannah loved Minnie Mouse, and dancing to music.  We go inside and play "Ice Ice Baby" (one of Hannah's favorite song's) and I watch Victoria jump and dance.  

While I keep the memories of my precious flowers children alive, and strive to fund and conduct more medical research, I find that the greatest way to honor these children is to Live.  I strive to live my life fully, and encourage those around me to do the same.  To dare greatly, and achieve, nay, exceed potential.  Every day is a gift.

I really wish I was throwing Victoria a big birthday party.  I want to celebrate ALL the people I love.  For now, I'll settle for lots of hugs and letting the people I love know it.  And yes, dear blog reader, I love you too.  :) 

Carpe Diem.

New report reveals the substantial burden of rare diseases

New findings reveal the substantial burden of rare diseases due to lack of resources, financial challenges and emotional unrest  

Lexington, Massachusetts, US – April 9, 2013 – Shire plc (LSE: SHP, NASDAQ: SHPG) today launched a Rare Disease Impact Report, which uncovers the health, psycho-social, and economic impact of rare diseases on patient and medical communities in the United States (US) and United Kingdom (UK). The report, developed in collaboration with an external advisory board of thought leaders in the medical, advocacy, health policy and health economics fields, will be distributed at the World Orphan Drug Congress in Washington, DC (April 9-11) and is available for immediate download at www.rarediseaseimpact.com.

According to more than 1,000 survey responses from a multi-stakeholder audience sample, the Rare Disease Impact Report reveals¹:

• It takes, on average, more than seven years in the US and five years in the UK for a patient with a rare disease to receive a proper diagnosis
• On the journey to diagnosis, a patient typically visits up to eight physicians (four primary care and four specialists) and receives two to three misdiagnoses
• Physicians (both primary care and specialists) often don't have the time, resources and information to properly diagnose/manage patients with rare diseases, compared to more common diseases
• Due to the uncertainty, the lack of available information, resources, and economic strains, rare diseases take a major emotional toll on patients and their caregivers

“This Impact Report brings to light the specific barriers to quality care that exist for patients with rare diseases; particularly the challenges in getting an accurate diagnosis, adequate information and ongoing care,” says Nicole Boice, founder and CEO, Global Genes | RARE Project, a leading rare and genetic disease patient advocacy organization. “I am thrilled that Shire engaged Global Genes in this initiative and hope it will inspire the rare disease community to work together to better meet the needs of rare disease patients and their families.”

Rare diseases are conditions that affect a small portion of the population but are often chronic, progressive, degenerative, life-threatening and disabling.² While individual rare diseases are uncommon and disparate, collectively, there are approximately 7,000 different types of rare diseases and disorders affecting an estimated 350 million people worldwide.³ Despite the progress that has been made over the past few decades to help improve the quality of life for patients managing these complex diseases, there are still significant gaps in care and barriers facing the community at large.

“The findings from our Rare Disease Impact Report are sobering,” says Flemming Ornskov, MD, Chief Executive Designate, Shire. “As a leader in rare diseases, Shire hopes that this report will help drive forward a collaborative effort with the patient and medical communities to address the unmet needs identified.”

Rare Disease Impact Report Findings¹

Across the groups surveyed, findings center around three overarching challenges:

There is a lack of resources and information to address these less common illnesses

• Physicians (both primary care and specialists) often don’t have the time, resources and information to properly diagnose/manage patients with rare diseases, compared to more common diseases
  • The majority of physicians surveyed reported it is more difficult to address the needs of a rare disease patient in a typical office visit (92% in the US, 88% in the UK agreed) and more office visits are required to diagnose a rare disease patient (98% in the US, 96% in the UK agreed)
  • In addition, more than half of physicians stated there aren’t enough opportunities to network with other physicians who treat rare diseases (54% in the US, 62% in the UK agreed) 
• From a patient and caregiver perspective, around half of those surveyed stated they received conflicting information from different health care professionals about treatment options (60% in the US, 50% in the UK agreed)
  • In fact, more than half of patients and caregivers stated they needed to provide their healthcare professionals with information on their rare disease (67% in the US, 62% in the UK agreed)
• As a result of these challenges, on average, it takes 7.6 years in the US and 5.6 years in the UK for a patient with a rare disease to receive a proper diagnosis, based on survey results. Along the way, the average patient visits four primary care doctors, four specialists and receives two to three misdiagnoses

The economic impact of diagnosing and managing rare diseases is significant. The journey to diagnosis and beyond comes with a steep price tag for many coping with a rare disease. The long road, which frequently includes numerous tests and physician visits, can become financially overwhelming, particularly for those in the US as compared to the UK 

• Payor respondents reported several factors contribute to the higher costs of care for rare disease patients compared to more common diseases, including the need for more diagnostic tests (100% in the US, 80% in the UK agreed) and more costly diagnostic tests (100% in the US, 90% in the UK agreed)
• Payors also found it difficult to make rare disease coverage decisions due to the lack of standards and guidelines. Almost all payors surveyed indicated there is less information/data available to help determine the standards of care for rare diseases (95% in the US, 90% in the UK agreed)
• Although 90% of patients surveyed reported they had health coverage in the US:
• 55% of US respondents incurred direct medical expenses not covered by insurance compared to 18% of respondents in the UK not covered by the National Health Service
• 37% of respondents borrowed money from family and/or friends to pay for expenses in the US compared to only 21% of respondents in the UK

Due to the uncertainty, the lack of available information, resources, and economic strains, rare diseases take a major emotional toll on patients

• Patient respondents reported several emotional difficulties managing their disease including depression (75% in the US, 69% in the UK agreed), anxiety and stress (86% in the US, 82% in the UK agreed), isolation from friends/family (65% in the US, 57% in the UK agreed), and worry based on future outlook of disease (90% in the US, 91% in the UK agreed)
• For those rare disease patients where treatment options are limited, overall they worry more, feel more depressed, interact less and feel more isolated from family and friends, compared to patients with rare diseases for which there are available treatments

Data Collection

In January 2013, Shire HGT conducted online surveys over a four-week period among US and UK rare disease patients and their caregivers; physicians treating patients with rare diseases; payors who handle reimbursements for healthcare plans and government/institutions; and thought leaders in the rare disease space. Surveys were fielded through the market research agency, ORC International and also distributed by advocacy group partners Global Genes and the Genetic Alliance UK. 

The Rare Disease Impact Report Advisory Board

An external advisory board anchored by thought leaders in the medical, advocacy, health policy and health economics fields lent their expertise to the development of the Impact Report. Advisory board members include Nicole Boice, Founder and CEO, Global Genes | RARE Project; Dr. Priya S. Kishnani, Division Chief, Medical Genetics, Duke University Medical Center; Tomas Philipson, Daniel Levin Professor of Public Policy Studies, The University of Chicago; Alastair Kent, Director, Genetic Alliance UK; Dr. Christian J. Hendriksz, Clinical Lead, Adult Inherited Metabolic Disorders, Salford Royal NHS Foundation Trust; and Mike Drummond, Professor of Health Economics, University of York.

Please visit www.rarediseaseimpact.com to get more information and view the full Impact Report.

For further information please contact:

Media
Jessica Cotrone (Human Genetic Therapies)	jcotrone@shire.com	+1 781 482 9538