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December 2020

Welcome to the Pompe Support Network community newsletter.
You will find the latest news and information of Pompe community activites, research developments from academia, and what the Pompe Support Network are doing to assist the Pompe community.
  • Latest government advice
  • Shielded Patient List government letter
  • Public Health England vaccination programme advice
  • A letter from the Chairman, Allan Muir
  • Journal of Inherited Metabolic Disease (JIMD)
: Coffee with a Caregiver with Wayne Belfitt
  • A report of Wayne's talk to AVROBIO
: Market Research
  • Extraordinary Measures
: Life of Pompe
  • A survey by Pompe Support Network
: Ways to Give
 

Further government advice for Covid-19 shielding
 

The government has updated its guidance for shielding and protecting people who are considered to be “clinically extremely vulnerable”.


You can view the latest Government advice on our website

The government is planning to send a letter to everyone on the Shielded Patient List (SPL). The letter is available online and is expected to be posted to people from Saturday 28 November and throughout the following week. You can view the letter via our website.
You may also receive an email from the NHS if they have an email address for you. The letters may take account of the “Tier restrictions” you are currently living under, so others in the Pompe community may receive differing advice.

As during the “first wave”, our advice would be to confirm any shielding advice with your clinical centre who will write to you separately.


Vaccination Programme Advice to healthcare practitioners from Public Health England (PHE).

You may also be interested to see the provisional advice being given to your GP and other healthcare workers about the vaccination programme that is about to be rolled out in the UK.

The PDF document can be downloaded via our website
COVID-19 Vaccination Programme

The document contains a lot of useful information about the virus, its transmission, symptoms of infection, and the potential vaccines with which we may be inoculated.

Government shielding advice

Pompe Support Network Chair, Allan Muir, has issued his personal views of Late-Onset Pompe disease and Long Covid-19.
Allan is very passionate about the subject and his report is now on our website for you to read.
Letter from Allan Muir

Research update

Two interesting papers were published in this month’s Journal of Inherited Metabolic Disease (JIMD). The abstracts are available online and are well worth reading.

The first paper is from the analysis of French Pompe registry data:

Long‐term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: Prospective analysis from the French Pompe Registry


“This study provides further evidence that ERT improves walking abilities and likely stabilizes respiratory function in adult patients with Pompe disease, with a ceiling effect for the 6MWT in the first 3 years of treatment.”

The second paper is available in full and echoes our concerns about the need for higher ERT dosing, especially in Pompe children:

Effects of higher and more frequent dosing of alglucosidase alfa and immunomodulation on long‐term clinical outcome of classic infantile Pompe patients

“This study shows that classic infantile patients treated with 40 mg/kg/week from the start to end have a better (ventilator‐free) survival and motor outcome. Immunomodulation did not prevent antibody formation in our study.”

Keep checking our Research page for all the new treatment developments as they are released.

Research Developments

Coffee with a Caregiver with Wayne Belfitt


On Monday 23
rd November, advisor to the Pompe Support Network, Wayne Belfitt, was invited to take part in American gene therapy company, AVROBIO, latest “Coffee with a Caregiver” online meeting. 



Hosted by AVROBIO’s Patient Advocacy & Engagement Senior Manager, Alayna Tress, Wayne was asked to share his Pompe experience from how he received his Pompe diagnosis through to how the disease has affected his everyday life and relationships. Wayne shared an engaging, incredibly honest, and humbling tale of his experiences of initial mis-diagnosis through to his thought process of when he is, simply, invited out to meet with friends. Where he has to consider so many aspects of the invite, whether it be the travel route, the wheelchair access, or the venue itself and the locations of its amenities. Wayne went to explain that on such occasions how it is sometimes, sadly, easier and safer for him to stay home.
 
Wayne shared his experiences about how his diagnosis with Pompe led him to train as a social worker (which he has since shared with positive effect within the Pompe community), and how the disease has affected his relationships with his partner and the difficult fine line between his loved one being his partner and care giver. 

As is Wayne’s way, the conversation was full of candid humour, but also highlighted the trials met by Pompe patients and how the need for improved treatments are so greatly required to help the everyday lives of each Pompe patient. 
 
Wayne spoke very highly of the continuing work and dedication of our Chair, Allan Muir
, and the Pompe Support Network as a whole. 
 
We’d like to Thank and congratulate Wayne on representing the Pompe community. 

               

 

If you are a UK resident and would like to share your experiences and perspectives such as this, or be more involved with supporting the Pompe community, please contact the Pompe Support Network at hello@pompe.uk

hello@pompe.uk

Market Research

Occasionally Pompe Support Network is asked to assist companies, through a third party, to assist with their market research. This research is usually required to support submissions to drug regulators (NICE, HMRC, EMA, FDA) when they are applying for market approval and reimbursement of their new medicinal products and devices. It can also be used to design drug trial protocols, prepare patient materials, such as Informed Consent forms, but also educational materials.

We were contacted recently by Liberating Research, and we were able to provide candidates to be interviewed about their experiences of Pompe disease. We provided all the patients they needed, carers and family members as well as homecare nursing staff. To quote one interviewer’s response that I received: “Just to let you know that the research was great – we spoke to 7 people diagnosed with Pompe and a couple of clinical nurse specialists, as well as yourself, so feel we got a really decent insight.  I also watched the film you told me about!"

(The film recommended to the interviewer was 'Extraordinary Measures', a film starring Harrison Ford based on the true story of two children diagnosed with Pompe Disease. It is available to watch on most online streaming services) 





So, I would personally like to thank everyone who took part in the interviews; collaborating in research is so important, to ensure that safe and affordable medicines are developed to further improve the lives of the Pompe community.

Life of Pompe
A Survey by Pompe Support Network

 
We recently invited members of our community to answer a few questions about their lives with Pompe Disease.

We’ve already had a dozen or so very interesting responses but there is still time to contribute some of your own life experiences.

This may not be the survey you would expect, a sample of the questions are listed below, so please do respond, even if you only want to contribute to one question:

  • Has Pompe bought any unexpected benefits to your life?
  • Whilst living with Pompe have you ever overcome any huge obstacles in life?
  • What do you see in other people's lives that gives a suspicion of Pompe?
  • Does life with Pompe ever cause amusement - or amazement?
  • Have you developed any useful skills as a result of living with Pompe?

You can add your contribution to the survey here

Life of Pompe Survey
The Pompe Support Network is, like most small charities, dependant on generous donations from the public and charitable grants from organisations. 
 
Did you know that just by online shopping you can raise funds for the Pompe Support Network - for FREE?
 
By shopping via Give as you Live Online, or AmazonSmile or eBay, you can raise money
for Pompe Support Network. It's free and easy - Simply click on the store you want to shop and then continue to shop as normal. Just that extra click will automatically generate free funds from your purchase for our charity. It’s so simple but can make a great difference to us.

So, for your next online food shop, or clothes purchase or staycation booking, please consider using these site to raise money for Pompe Support Network - all for Free!

You can also make a direct donation through Paypal 
 
Donate
Thank you for reading the Pompe Support Network Newsletter,
if you have concerns, stories, or you spot articles of interest, please let us know and we will try to include them in future editions.
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