in Huntingdon Beach California


I will be there representing all of us! We are being sponsored by Healthcare at Home a company from the UK. I met Natalie Douglas in April at an eyeforpharma conference in Philadelphia. She is a Board member of She is impressed with our community, and the work we are doing since the important survey when 478 of you participated.

I will bring the reports...but mostly KNOW that YOU are the Gatekeepers of so much important work for Rare Diseases! I want to let everyone know YOU are the ones who cheer each other into clinical trials. You are the ones who are testing personalized medicine...which as LittleLab4CF reminds me is like a nuclear bomb to your changes all the cells. (He may correct me here).

You are the ones so many diseases which have NO drugs can look to.

You have forged the path. You are the pioneers for genetic medicine

I want them to know.

Fabio Gratton will also meet me in Huntingdon Beach to show me the new website his team has been working on for us.
I will even get to meet some of you out there.
I am humbled and excited!
Salt and Light,


Amber: I will be thinking of you as I look it over with Fabio! You will love all the new features and be trying it out I am sure!
The conference is September 24th and 25th, then a Gala dinner...I'll be meeting Fabio and some members of the between.
Can't wait!
Salt and Light,


[FONT=Verdana, Arial, Tahoma, Calibri, Geneva, sans-serif]Today is my first day at this conference on rare diseases. I bring your spirit and fight. I wonder what i will learn and who i will meet. Their stories will be amazing and i will share them with you.
This journey today is about communication...who will throw their stories in the air? From where will the inspiration come? Every day for 20 years, this has been a place to share the struggles and dreams of lives lived one day at a time with a rare disease and its aftermath.
The real heart of this is learning self management....As one member so aptly stated " what is in my toolbox today?"



Super Moderator
Have a great time Jeanne! Thanks for being there to represent us! Can't wait to hear more about it. :)



Some notes from my first day...the keynote speaker was
Bonner Paddock
I will share some of my notes...he began by asking. "Who sets our limits?"
He spoke of his cerebral palsy as being given a gift. He spent the first 30 years of his life being angry and embarrassed because he couldn't walk like everyone else.
He talked about limits...
How many people like hanging out with people with a crappy attitude?
Are you a pessimist? Optimist? Realist? Delusional?
Do you have emotional poison? You control your attitude.

How do you counter someone with a bad attitude?

Fear. Jealousy. Anger. Sadness
Don't lower yourself
Always help to pick someone up. But don't go down the pit with them.

he had great slides ....
He is a clone of so many of you...with a beautiful way of communicating...I am in my hotel room trying to write this on my for me to add to it through the edit key

watch the above and be inspired!...


Getting a diagnosis is a struggle we see evidence of every many families come here and question us.....

yesterday, i had lunch with catrina frost. Her daughter cailee 5 years old has a rare eye disease...they are preparing her to be blind. She may even lose her eyes.

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i bring her story to you....


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This is James. There are only 46 children in the world so far diagnosed with AHC. Alternating hemiplegia o childhood. I had the honor of meeting his dad Jeffrey Thursday. It was a long journey to diagnosis but they are proud that they can now get on with a community and a cure.
what is ACH like you may wonder
What is AHC like?
Movement problems like cerebral palsy
Learning challenges like autism
Behavior issues like ADHD
True epilepsy in at least 50% of the cases
Bouts of temporary paralysis that lasts for minutes to days at a time
Currently incurable and untreatable

There is still much hope because research is progressing rapidly


Meet Grace Wilsey. And hear oh so many times..."rare is not an excuse". Her dad Matt and her mom leave "no stone unturned"


Super Moderator
So much wonderful stuff Jeanne! Thank you for representing us. And I hope others are "getting" what an on line community can do and thinking of replicating for their rare disease. Gammaw just solved 3 years of pondering, worrying, questions, with her excellent research, and building on the great info Steve and Dot shared!!


This morning I will have breakfast with my friends from Healthcare at Home of the UK they are our sponsors to this amazing conference.
Then at 10:30 I will meet 2005CFMom Teri! Our long time member and Supermoderator. I am so honored.
Tonight is the Blue tie Gala...I will be at the Healthcare at Home table. They had one extra seat which they offered up to Fabio Gratton who comes with our new website...
Salt and Light


Love, you are so right..everyday we solve problems...i will send that thread to Pari. I already sent it to my friends at Healthcare at Home!
Pari asked to partner with us...we'll see if they have what it takes to answer all our questions...
Salt and Light,


Super Moderator
Just got home from our long day. First, we had a wonderful visit with Jeanne. It was such a pleasure to meet in person and hear about what is happening at the conference. Then had a nice stroll along the beach before heading off to make an Orkambi delivery to my daughter, Sarah, in college. Took her along with a new friend out to dinner. Jeanne, make sure to thank the UK home care for "brunch". Emma was still full by dinner time and just ordered a bowl of soup. Special thanks to my husband for doing all the driving because I hate So Cal freeways. Now off to bed!


My time with Teri and her family was so special. Her daughter Emma is a doll....16 years old...home schooled and totally focused on her studies. The home schooling for Sarah wCF and Emma made a big difference and was brought on by all the time it takes to do do the CF treatments. Their dad is also so special and grades their papers!. What a special family with great relationships to bring out to the world. Sarah is now away at college.

Saturday was indeed a big day for me. Healthcare at Home of the UK sponsored me, but also was a big sponsor of the whole Global Genes Rare Diseases. There may have been 5 or 600 people in attendance...and HAH put on the cocktail hour(s) husband Peter who has been on the Board of our local Visiting Nurse Association...figured instantly that "hey they aren't bound by being non profit like the visiting health in the US".
No, they aren't they can be support many causes and Global Genes, Rare diseases is one of their missions.

Fabio Gratton did join us at our table for dinner and we listened to the speakers. One speaker was young woman has CF and met the IronMan challenge!
I was painfully aware that we can only do something like this on line because our community can't be together, but I am ALWAYS aware of that.

Then cam the most amazing time, when Fabio showed me our NEW SITE! It is so beautiful and comprehensive!
I can't wait for you to see it.
It will be finished in October, then we will have the Health Opinion Leaders look it over and then out the door to all of you!
You will want to be part of this!

Thank YOU and
Salt and Light,


Super Moderator
What a great opportunity to learn and meet others that are struggling. Everyone deserves a chance to tell their story. Anxiously waiting for the new website.


Sounds like you got a lot accomplished! Excited to hear all about it in the coming weeks/months and see how things can progress. How's the new site coming along?