Spread the Word, Make a Cure a Reality

We have worked tirelessly to get AKU patients the care and treatment that they need.

In 2012, we established the world’s first treatment centre for AKU: the National AKU Centre. Following that, we received funding for our DevelopAKUre clinical trials to test the world’s first treatment for AKU. Many of you will have already heard a lot about the clinical trials of nitisinone, especially those who took part in our first clinical trial (SONIA 1).

What many of you don’t know is that we’re still missing vital funds, primarily for patient and carer travel. We’ve raised enough for all of the medical tests and some of the patient costs, but we’re still missing $98,000.

That’s why we’ve started an online campaign to raise these funds, which will launch on the 1st of September.

Help us spread the word
One of the ways you can help us is by spreading the word of our upcoming campaign.

All you have to do is sign up to our page on Thunderclap, a website created to raise awareness of promotions and causes, through your Facebook, Twitter or Tumblr account. You then agree to send out a message of support at the same time and same day as everyone else: 12pm on the 1st of September. This will announce the start of our campaign, and help create a lot of conversation about AKU and our fundraising.

To support us this way, all you need to do is head to this page. Sign up by just clicking a button, agree to send out a message, and even adapt it if you want! Supporting us is that simple.

Asking your friends and family to do the same would also be a big help, because if we don’t reach our goal of 100 supporters then no messages will be sent out. So please forward this e-news and tell everyone you know!

Our biggest online campaign yet
Indiegogo is a crowdfunding website, designed to allow people to fundraising online in a big way. Crowdfunding is a way for supporters to help fund projects by collecting small contributions from a large collection of people online.

On the 1st of September, our campaign on Indiegogo will go live to the public for only 20 days. That’s the amount of time we will have to get the money we desperately need to support AKU patients.

For 20 days we will be updating the campaign daily, raising awareness of AKU through patient and carer stories, research updates and more on how the money will be used. We will be working non-stop to raise the funds, in order to ensure our patients have all of their needs met during the clinical trials.

Please do tell all of your friends, family and your colleagues about the launch of our campaign on the 1st of September. The first to donate will be the first to receive our perks, which you can find out more about on the day of the launch.

Why $98,000?

The reasons we need a further $98,000 is to allow us to:

• Bring patients from across the world to our clinical trial centres. We believe patients shouldn’t have to pay anything towards taking part and getting the help they need.
• Allow patients to bring carers with them when they attend the trial. There is currently no funding available for travel or accommodation for carers. As some of the patients are extremely disabled, travelling long distances by themselves can be extremely daunting.
• Help care for them properly while they are on the trial. Many of them are very disabled and suffering. In some cases, we may need to hire specialist ambulances for those who are extremely disabled but still want to participate. 
• Support the work of the AKU Society and our sister societies across the world. 
• Organise events across Europe in order to give AKU patients and families everywhere access to information about the disease and the trials. 

All we need now is your support.

Please spread the word on Thunderclap, tell all your friends and family about the launch on the 1st of September, and support our crowdfunding campaign on Indiegogo. With your help, we can reach our goal and help AKU patients everywhere. 

Rare Disease Working Group Comments to Expedited Guidance

On June 25, FDA issued a notice in the Federal Register requesting public comments on their Draft Guidance for Industry on Expedited Programs for Serious Conditions, which was issued to fulfill the Food & Drug Administration Safety & Innovation Act (FDASIA) (Public Law 112-144) mandate.  Unfortunately, the draft guidance does not address the issues specific to rare disease drug development as required by FDASIA. 
 
The EveryLife Foundation and its Working Group of patient organizations and industry stakeholders have collaborated on the attached comments on the draft guidance.  We urge your organization to submit comments to the FDA requesting them to revise the guidance to ensure rare diseases have access to Accelerated Approval.  If your organization is not able to submit comments, we encourage you to add your organization’s name in support of the attached comments which will be sent to the FDA.  It is vital for the FDA to hear from the patient community on this issue.  FDASIA requires the FDA to issue the final guidance by July 2014.     
 
Public Comments are due to the FDA by Monday, August 26^th.  If you would like to sign on to the EveryLife Foundation comments, please email LWhite@EveryLifeFoundation.org by 3pm Eastern, Friday August 23^rd.
 
For more information on this issue, please go to: EveryLifeFoundation.org.
 
Thank you for taking action to help spur the development of safe and effective treatments for rare disease patients.

Emil Kakkis, MD, Ph.D, President
EveryLife Foundation for Rare Diseases

Special Call for Proposal Databases for Clinical Research Data in Rett Syndrome

IRSF is sending out this Request for Proposals for the specific purpose of maintaining existing and/or developing new databases for clinical research data in Rett syndrome.

The budget for the Database grant is $50,000 per year for a period of two years.

Applications may be submitted by any private sector organization; any public sector organization; universities; colleges; hospitals; laboratories; healthcare systems; and units of state and local governments.

All applicants must submit an LOI to be considered for a full application. Those LOIs that are approved will be notified and invited to submit a full application. The LOI must be received before August 31, 2013.  The full application deadline is October 15, 2013.  Final decisions and notifications will be made in spring of 2014.

Please visit the IRSF website for application instructions

NIH Guide RFAs

We continue to point out several Requests for Applications (RFAs) published in the NIH Guide that may be of interest to our Rett researcher community.  Please review the following RFAs if this is applicable to your research interests.

From the July 12th Guide, there is a special call to enhance the training of new investigators in clinical trials.

• NINDS Clinical Trial Methods in Clinical Neurological Disorders Course (R25)
  (RFA-NS-14-001)
  National Institute of Neurological Disorders and Stroke
  Application Receipt Date(s): October 09, 2013

From the May 31st Guide, there are R01 and R34 mechanisms related to Services Research for Autism Spectrum Disorder.

• Services Research for Autism Spectrum Disorder across the Lifespan (ServASD): Research on Early Identification and Linkage to Services for ASD (R01)
  (RFA-MH-14-100)
  National Institute of Mental Health
  Application Receipt Date(s): October 22, 2013
• Services Research for Autism Spectrum Disorder across the Lifespan (ServASD): Pilot Research on Services for Transition-Age Youth (R34)
  (RFA-MH-14-101)
  National Institute of Mental Health
  Application Receipt Date(s): October 22, 2013
• Services Research for Autism Spectrum Disorders across the Lifespan (ServASD): Pilot Studies of Services Strategies for Adults with ASD (R34)
  (RFA-MH-14-102)
  National Institute of Mental Health
  Application Receipt Date(s): October 22, 2013

Struck down by rare disease

After weeks in hospital and lots of uncertainty, my husband is finally home with his family.

Derek was diagnosed with prostate cancer in May 2012. He had surgery the following September and it was a success. He is now cancer free.

What we didn’t know at the time was that the surgery also triggered a catastrophic series of events and that he would almost die.

The problems started with Derek’s slow recovery from the surgery. He was so tired he couldn’t do anything. After multiple trips to his doctor he was finally admitted to hospital.

Over the next few days he had a partially collapsed lung with a query of pneumonia, plural effusion, acute kidney injury, transient liver damage and myopericarditis.

It had turned into an episode of House and Derek was the patien

Specialists from urology, infectious disease, general medicine, haematology and cardiology all tried to work out what had gone wrong.

So it was decided that general medicine would run the show.

After several days in an intensive care situation, he was diagnosed with probable catastrophic antiphospholipid syndrome (CAPS), a very, very rare event.  

Eventually we got an answer.  He had suffered an adrenal infarction, which had put him into an adrenal crisis. 

As he was about to be released they discovered a pericardial effusion which meant another week in hospital.

After three weeks in hospital Derek finally got home.

This was just the start of what has become a very long journey to partial recovery.

The general opinion from the doctors that saw him was “we can’t believe you are alive”.

Yes he is alive, he is doing OK. Ten months on, he is working full time (just) which is very surprising to most because he is still recovering.

He is also now learning to live with adrenal failure.  

Derek was fit and well before he went for surgery, this, and determination, is what got him through.  It is also what is getting him through recovery.

There are days when he still “doesn’t have enough data” (Derek is a software developer) to function fully at a mental level.  At those times, he also doesn’t have enough energy to function physically.

His day involves taking medication at 6am, 7am, noon, and 4pm to stay alive, and then more medication at 6.30pm to make sure he doesn’t suffer any form of blood clot again.

Stress is something we now try to avoid, which isn’t possible when you work in a stressful job and and have two teenagers, but we are getting there. 

It will be months yet before we know what life without adrenal glands is going to be like, because it is going to be months yet before Derek has recovered.

What we do know is that CAPS has a survival rate of about 50 per cent.  Adrenal crisis, can also kill when you don’t know you have it.

We have met one other New Zealander online, who has both CAPS and adrenal infarction.  So when I tell my husband he is one in 1 million that is pretty close to the mark, it is not because he is a great father, husband and friend. 

It is because there are so few people around like him.

If you are interested in following him through his recovery, then you can visit our blog.