One Year Later

Isn't strange when some one says you can't have it, you want it more. Or you can't do it and your determination gets in the way and makes it happen. That's how I feel about Hayden almost every day.

Today it has been one year since he came home from UCSF PICU. Thank you to all of you amazing doctors, nurses and respiratory therapists (and you know you are) who made bringing Hayden home a reality. 

He finished 6th grade, he's made new friends and kept up with the old, he's had easy days and hard days, but in the end he is happy and that is what matters most.

Special thank you to Dr. Kitterman who was there for us every morning at 7am rounds for 4 months straight. You are an angel!  And to Nurse Adrienne who was with him from the beginning and pushed the limits so Hayden could understand why he should live.

To all of Hayden's amazing nurses and respiratory therapists,  we miss you all and are a huge reason Hayden is here today.

To Hayden's doctor's, thank you for telling us the truth and not holding back. I know that is what gave John and I our determination to see him walk out of the hospital.

Thank you to our families and friends who still give so much to us and Hayden in terms of love and support.

xo
Megan

Hayden and John at Stinson Beach for 4th of July.
Hayden's first sleep over away from home since being
in the hospital.

12 years ago today....

Twelve years ago today at 7:30am,
Hayden came into my life.  

It was quite possibly the best day ever.
  

He was so perfect, except for those funny looking toes :)

His little smirk makes my heart glow...

Art at Old Mill School - Kindergarten

Last year at this time, I wasn't sure if he would make it
out of the hospital.  The doctors said there wasn't
anything else they could do for him.

Hayden in the Pediatric ICU with companion dog Nalani.

And you all know what happened,
Hayden showed them he could fight.

So we had his11th birthday party in the hospital.

Birthday gathering in the UCSF Pediatric wing

He graduated from 5th grade....virtually.

Me accepting Hayden's diploma.
Hayden was participating via Facetime. 

And then on July 11th, he walked out of the hospital and

we went home. Oh my god I almost cry thinking about it!

Day before leaving hospital

This last year has been so amazing. 

I am so very proud of everything Hayden has accomplished.

Going to 6th grade.

Going to school dances.

Making new friends.

Keeping up with the old ones.

But most of all I am proud of the things that may seem little.

I am proud that he gets himself out of bed every morning...

even when its hard to breath.

Sleepy Hayden

I am proud that he will go to school with a stomach ache

and a head ache just because they are 

dissecting worms that day.

I am  proud that he is willing to take chances and

trust doctors and nurses even when he is scared.

I am proud that he gets out of the house to see friends at

the movies, go to baseball or soccer games because

its a big deal to pack up his equipment and get him outside...

and sometimes it scares him.

Hayden & MTS Soccer Team

Bottom line I am so proud of all that he has done

 since leaving the hospital. 

@ Tamalpie...new favorite restaurant

He is such an amazing kid and an inspiration to me.

Bailey & Hayden

Happy 12th Birthday Hayden!

Love, Mom

Alison & Ado's 1st Blogoversary - Blog Bash

My friend Ado started a blog while Hayden was in the hospital last year.  Her blog got me through some rough times with a lot of laughs.  This week she is celebrating the 1 year anniversary of her blog TheMomalog.  To celebrate, all friends who blog are invite to post a favorite post from their blog.

My favorite post is "Top Ten Reasons You Know You've been in the Hospital Too Long".  It entertained me to write this and it still entertains me to read it.  I was exhausted and an emotional roller coaster after being in the UCSF pediatric ICU for 6 weeks practically night and day.  But I figured out, through writing this blog, that if I could just make myself laugh through this ordeal...somehow find some humor in it all, we would all survive.  And we did :)  Hayden finally came home on July 11th, 2011.

As a post script, I would say that UCSF Children's Hospital is the most amazing place.  Their staff is the reason that Hayden is alive today.


Top Ten Reasons You Know You've Been in the Hospital Too Long:
10.) you are on a first name basis with all doctors and nurses in your unit....as well as the janitors and admin staff

9.) you feel totally comfortable silencing alarms on the various machines your child is hooked up too....he looks fine and is sleeping.

Hayden sleeping with his Giant's jersey.

8.) you no longer hear the alarms on the machines your child is hooked up too because you've finally gotten 10 minutes of peace and are fully engrossed in a book that you haven't had a chance to read in a week.

Display from one of the machines Hayden was hooked up to.

7.) you feel completely comfortable barking at the resident during rounds (i.e. in front of 15 other doctors) because he does not communicate well.

6.) you feel completely comfortable complaining to the cheif of the department of said resident about his horrible communication skills

5.) you recieve apology from said resident and preach to him like his is a kindergartener about how good communication is the key to success in any profession. (Julie Althoff - Hayden's kindergarten teacher- would not approve of his commmunication skills either.)

4.) you start telling the nurses and doctors what to do and feel completely comfortable and commanding in your medical knowledge even though your degree is in Political Economies of Industrial Societies (but your sell textiles to the healthcare industry! )

Hayden taking his first step walking after 3 months in bed on a ventilator.

3.) you forget what you say to who and when you said it

2.) you forget what day it is

and the top reason your know you've been in the hospital for too long is....

1.) you have run out of space on the walls to decorate and start decorating the ceiling!!! Hayden's Room Remodel Complete!

Hayden's friends brought posters, pictures,
and balloons to decorate his room.
Hardly a speck of bare wall was showing at one point.

TODAY IS RARE DISEASE DAY!

So extra ordinary that this year Rare Disease Day lands on a Leap Day!  Two special days to be celebrated.
To learn more about Rare Disease Day and Hayden's rare genetic condition please go to
http://www.ifopa.org/en/news-and-events/latest-news1/331-rare-disease-day-2-29-12.html

RARE

rare/re(ə)r/ Adjective

1.) marked by unusual quality, merit or appeal, distinctive

2.) seldom occuring or found uncommonly

Typically when we think of something as rare,

we think of something special,

unique or hard to come by.

Something spectacular such as the Hope Diamond,

 or discovering long, lost ancient ruins

or even a fossilized sand dollar 

such as the one I found recently on the beach.

Rarely, no pun intended, do we like to associate 

the word "rare" with an illness. 

However there is nothing spectacular about 

receiving a diagnosis of a rare disease.

It is, in a word, devastating.

Less than 5% of rare diseases have 
any therapies or treatments.

There are 7,000 identified rare diseases with no cures.

350 million people have a rare disease. 

That is more than all those with 
Cancer and AIDS combined.

Finding funding for research, advocacy 
and community outreach

for these orphan diseases,

as they are called, can be challenging.

However within this rare community of people,  

there is something special about a rare disease, 
the people.

These special people are…

...the scientists who study it,

Researchers in the FOP lab at University of Pennsylvania.
Meiqi Xu, Drs Frederick Kapkab and Eileen Shore

the patients and families who live with it
and support research through family fundraisers,

Hayden Pheif, skiing in 2008, at the Far West
Disabled Sports Center in Alpine Meadows, CA

the people who spread awareness 
through outreach and advocacy.

                     

These people are rare in a very special way. 

They give us hope.

  

Even though the people afflicted with rare diseases

create a very large community,

their conditions remain largely unknown

to the vast majority of the world population. 

Next Wednesday, February 29,

is

World Rare Disease Day.

This day was created in the United States

by the National Organization for Rare Diseases (NORD)

to raise awareness and 

increase advocacy for these special diseases,

as well as to provide hope to the 

patients and families afflicted by them.

Please join me in spreading the word about 

Rare Disease Day and get involved.

http://rarediseaseday.us/

http://www.globalgenesproject.org/index.php

www.ifopa.org

NIH Program Helps Developers Navigate Path to New Drugs for Neglected Diseases

http://jama.ama-assn.org/content/307/6/549.full

Medical News & Perspectives

JAMA. 2012;307(6):549-550. doi: 10.1001/jama.2012.83

NIH Program Helps Developers 

Navigate Path to New Drugs 

for Neglected Diseases

1. Rebecca Voelker

KEYWORDS: 
• drug discovery, 
• investigational new drug application, 
• national institutes of health (u.s.), 
• rare diseases.

Competition to cross the so-called Valley of Death has become rather stiff at the National Institutes of Health (NIH).

Since 2009, the NIH's Therapeutics for Rare and Neglected Diseases (TRND) program has solicited proposals from scientists and pharmaceutical companies trying to navigate that dead zone between discovering promising compounds and getting them into human clinical trials. To date, TRND has received 125 applications for nonmonetary assistance; 10 have gotten the green light.

Fibrodysplasia ossificans progressiva, which hardens soft tissue into bone, is a rare disease that the National Institutes of Health has targeted for new drug development. 

(Photo credit: E. Shore, PhD/F. Kaplan, MD/Univ of Pennsylvania/Nature Genetics)

“What this reflects is the really substantial need for novel therapeutics for rare and neglected diseases but also enormous opportunities because we’ve seen a lot of really good science,” said Christopher Austin, MD, scientific director of the NIH Center for Translational Therapeutics, which oversees TRND.

Rather than award grant money directly, the congressionally mandated TRND program partners with chosen applicants to determine the steps and studies needed to submit compounds to the US Food and Drug Administration (FDA) for investigational new drug approval. “We combine our money with our know-how,” said Austin. “We pay [contractors] for the studies or we do them ourselves.” In the world of drug development, TRND has a molecular-level budget: $24 million.

The most recent round of project approvals, announced late last year, will aid in developing new treatments for fibrodysplasia ossificans progressiva (FOP), a connective tissue disorder; autoimmune pulmonary alveolar proteinosis, which causes breathing problems and can lead to respiratory failure; creatinine transporter deficiency, a cognitive function disorder; schistosomiasis, a parasitic infection; neonatal herpes simplex virus; and Duchenne muscular dystrophy.

“We really tried to choose projects with the greatest medical need and the greatest scientific opportunity,” said Austin.

One that meets both objectives is a project to develop better treatment for schistosomiasis, a neglected tropical disease that affects more than 200 million people worldwide at any given time. Infection with Schistosoma worms can cause severe anemia, diarrhea, internal bleeding, and organ damage. Treatment with repeated large doses of the antihelmintic praziquantel is effective. But reinfections are common because the worms swim freely in water used for bathing and swimming in developing regions. “You can't treat everyone; there's not enough drug,” Austin said.

So TRND resources are going to 5-year-old Concert Pharmaceuticals Inc of Lexington, Mass, to develop a new drug similar to praziquantel but with a key difference in chemical composition: the drug's hydrogen atoms are replaced with atoms of deuterium, a hydrogen isotope.

“We observed preclinically that deuterium appears to stabilize the compound metabolically, so we would hope to be able to give lower doses,” said Roger Tung, PhD, Concert's chief executive officer and cofounder.

Concert has developed what it calls a deuterated chemical entity platform. It's based on the principle that drug metabolism in the body involves breaking carbon-hydrogen bonds. Compared with hydrogen, deuterium forms a stronger bond with carbon. This stronger carbon-deuterium bond results in drugs that are metabolized more slowly, raising the possibility of smaller doses and fewer adverse effects. Some of the company's compounds to treat chronic kidney disease and HIV infection that are built on this platform are in phase 1 clinical trials.

“There are other diseases for which this approach might be relevant,” said Austin.

Unlike schistosomiasis, which affects hundreds of millions of people, FOP affects only 3000. The genetic disease in children causes soft tissue to harden into bone. Over time, joints become locked, and the chest becomes encased in bone, restricting the lungs. “It's an awful disease,” said Kenneth Bloch, MD, professor and chair of medicine at Harvard Medical School in Boston and lead investigator of the TRND-supported project seeking treatment for FOP. Currently, no treatment is available.

Bloch and his colleagues have developed a mouse model of FOP and shown that a small-molecule inhibitor of the bone morphogenetic protein type I receptor may reduce abnormal bone formation. TRND will support further medicinal chemistry studies to optimize the small molecule. Bloch said he and his colleagues talked for several years with pharmaceutical companies and venture capitalists about funding for additional research but came up empty.

“In a way, TRND is behaving like a pharmaceutical company by providing a novel form of support,” said Bloch. “We have lots more safety work to do . . . but we're thinking about clinical trials.”

Even though it may take several years to complete all the steps needed to submit a new drug application to the FDA, Bloch said the FOP research has broad applications in other conditions with bone abnormalities. For example, some patients who undergo hip surgery develop abnormal bone growth that interferes with hip function.

“What we learn in this rare population really can be extended,” he said.http://jama.ama-assn.org/content/307/6/549.full

SIX MONTH ANNIVERSARY

Today is the 6 month anniversary of Hayden coming home from the hospital.  It truly seems like yesturday.  I can't wait until it has been a year and I will really feel like it is all behind us.

We've kept in touch with our friends we've made at the hospital. We met one of our favorite traveling nurses, Emily, who was in town from Boston, at Gott's a great hamburger place in the Ferry Building.  It was so fun to see her outside of the hospital.  It felt like we were old friends. We are meeting another one of Hayden's favorite nurses next week at Swirl for fronzen yogurt.

We've only gone back to UCSF Children's Hospital a couple of times for what ended up being minor issues. Strangely it was like going "home", which seems like an odd word to use.  Now that we now know all of the staff at UCSF in the PICU and they know us, it feels comforting if the occasion arrises that we need to go there.

I still worry everyday that Hayden will get sick again or that somehow he will slip away in the middle of the night, like a mother worring about her  baby having SIDS. But every morning I wake up and there he is.  Sleepy and trying to wake up so he will get to school on time. We give each other a "good morning" hug and start our routine to get ready for school.  Another day in the life of a remarkable boy.

Elsa & Hayden in December