Wife in Alpha-1 campaign bid – Lancashire Evening Post

A widow who lost her husband to a rare genetic disorder is campaigning for awareness of the illness to be raised. Charlotte Goode, 37, from Clayton-le-Woods, near Chorley, lost her husband Stuart to Alpha-1 Antitrypsin Deficiency in August 2009. Now, the mum-of-two, is urging people to sign a petition calling for the establishment of a specialised service for Alpha-1.

The online petition has been launched by the Alpha Alliance and Charlotte is backing it following her family’s experience.

Full Story…..

Bobby’s Story

Hi, My name is Charlotte and I lost Stuart, my husband, to Alpha-1 Antitrypsin Deficiency in August 2009. He was 36 when he died. He was diagnosed 2 1/2 years earlier. Up until his diagnosis he had lived a happy and healthy life although he was very ill shortly after he was born. His illness was painful, stressful, confused and his treatment extremely poorly managed. Earlier diagnosis could have prevented his death or at least prolonged his life. Stuart was ignored by doctors, letters were lost and he had to ‘project manage’ his illness himself. Stuart leaves behind two sons, they were 3 and 1 when he died. Our eldest son, Bobby, is now 6.

Read his story as he remembers what happened to his daddy and please sign the e-petition.

Jemma, Evie and Family Front Page News Newquay Voice

A NEWQUAY mother has begun a fundraising mission to help raise both awareness and funds for a rare disease. Gemma Masters held a charity open-mic night in Porth last Thursday evening in a bid to raise vital funds for Alpha-1 UK Support Group. Around 30 people attended the event which also helped raise awareness of Alpha-1. Gemma said: “Only 5% of children show symptoms as a child. As a result of it, Evie gets recurrent chest infections and suffers poor weight gain. We have been battling to find out what is wrong with her since she was born seven years ago. It apparently takes seven years to detect but, even though you are born with it, people don’t think to test for it because it’s so rare.”

Full Story:-

Lucky 7 Charity Day – Fundraising Event for Alpha-1

Alan Lyons and his wife Claire will be taking part in this charity fundraiser for Alpha-1 and other local charities on Sunday 7th April. Alan is eldest son of Joe Lyons member of this group. Please support Alan and Claire by donating through “The Lincoln Friday Club Website” This event supports a number of charities and fund raising will be through PayPal. If anyone would like to sponsor them through PayPal please mention them by name when making the donation to ensure the Alpha-1 cause is recognised.

Here is the link to The Lincoln Friday Club Website where you can make your donation:
Thank you for your support.

Alpha-1 Alliance – Campaign Update

The Alpha-1 Alliance is campaigning for a highly specialised service within the NHS for patients with severe Alpha-1 antitrypsin deficiency. We’re calling on the NHS to set up three or four specialist Alpha-1 centres in hospitals across England that would allow patients prompt access to specialist clinicians and treatment. So far this year we’ve been focussed on raising awareness in Parliament about the campaign and the unmet medical need of Alpha-1 patients. We also recently met with NHS officials to find out more about the process for securing a specialised service.

Parliamentary support for the campaign
In January representatives from the Alliance met with four Members of Parliament (MPs) in Westminster from across the political spectrum. This allowed us to help improve politicians’ understanding of the condition and what needs to be done to ensure patients have better access to treatment and specialist clinicians. Mark Pawsey MP (the Conservative MP for Rugby) has a constituent with Alpha-1 and has been championing the campaign within Parliament.

Reform of the NHS
The NHS is currently undergoing a considerable amount of structural reform which has meant there has been significant uncertainty about the process that would need to be undertaken in order to set up a new specialised service for Alphas. Previously a body called the Advisory Group of National Specialised Services (AGNSS) would have advised the Government about whether or not to nationally commission a new highly specialised service. However, from 1st April this responsibility shifts to the new NHS Commissioning Board who will make all future decisions on specialised services. Potential future access to augmentation therapy for Alphas will need to be looked at separately by a NICE assessment. 

What can you do to support the campaign?
For the campaign to be successful it’s crucial that Alphas make their voices heard and let Government know why it’s so important that patients can access a specialised service within the NHS. We’re currently undertaking a survey of the views and experiences of Alphas and their families which we’ll use to write a report that will be presented to MPs and Peers at an event in Parliament later this year. Please share your views with us by completing the online survey:-

We’ve also set up a petition on the Government’s e-petitions website calling for the establishment of a specialised service for Alpha-1. The petition now has over 1,000 signatures, and if we can reach 5,000 signatures it will be one of the top 10 petitions to the Department of Health. We’re calling on all Alphas to sign the petition and circulate it to everyone they know to help us demonstrate the strength of feeling behind the campaign, and the need to provide specialised treatment for Alphas within the NHS:-

About the Alpha-1 Alliance
The Alpha-1 Alliance includes the Alpha-1 UK Support Group, Alpha-1 Awareness UK and Alpha-1 Advocacy and Action and is chaired by Dr Ravi Mahadeva, representing the clinical community.

Mum Tells of Battle to Find Treatment for Daughter

Pirate FM has learnt that a Newquay schoolgirl has spent her whole life in and out of hospital because of a rare genetic illness.

Seven year old Evie Masters has Alpha-1 Antitrypsin Deficiency.

It means her body does not produce enough of a protein that protects our lungs and liver from damage.Evie Masters - Squeezy's Story

She suffers from chest infections and could end up needing a transplant in later life.

Mum Jemma says ten days after being born, little Evie went blue: “I was told she probably wouldn’t make it through the night. Her lung collapsed, she had pneumonia and she was in Treliske for the first six months of her life.

“If it’s not treated correctly it can lead to transplants. It’s at the back of my mind, because we don’t know what the treatment is or what her long term life expectancy is.

“When Evie is sick everything sort of stops – and it’s normally three weeks out of the month she’s ill for.

“But she always makes people smile. She doesn’t complain about being ill – she just gets on with it.”
Jemma has started a Facebook campaign called Squeezy’s Story; the name given to Evie by a nurse at Treliske because she is so small.

The campaign is hoping to raise awareness as well as money for better diagnosis and treatment in the UK.

At the moment, the closest available centres are in America.
Charity Alpha-1 UK Support Group is calling on local people to sign an e-petition to try to get that changed.

Spokeswoman Karen North says: “Not very many specialists in the country even know about Alpha-1 so it’s rarely tested for, rarely diagnosed and if diagnosed, there isn’t a treatment in this country available for it.”

Pirate FM News – http://www.piratefm.co.uk/news/latest-news/895865/mum-tells-of-battle-to-find-treatment-for-daughter/

Squeezy’s Story

For the past seven years we have battled to find out what Evie has wrong with her, we have finally been told what she has and it is called Alpha 1 antitrypsin deficiency, this has the possibility to lead to lung and liver disease.

It isn’t something that many people know exist, so I would like to help raise awareness and funds to help my daughter and other people with this condition.

If you like to donate to this Charity please use this link, Thank you

Help us achieve 100,000 signatures on the e-petition to the Department of Health urging them to nationally commission a specialised and help get this cause debated in Parliament:

A bit about Evie’s story so far…

When Evie was born she was jaundiced, we obviously didn’t give this too much consideration as many babies are born that way. At only 10 days old she stopped breathing and turned blue. We rushed her to hospital and found out she had suffered from a collapsed lung. She was placed on oxygen, given intravenous antibiotics and fed through a tube. At that time we were told to prepare ourselves for the worst! Thankfully she held her own and they started to tube feed her Nutramagen as she was also suffering from reflux and was intolerant to breast milk. After 6 months in hospital in Cornwall she was transferred to Great Ormond Street and remained there for 2 weeks.

She was tested for many conditions, including Cystic Fibrosis and Ciliary Dyskinesia but never Alpha-1 Antitrypsin Deficiency, although we now know that being a jaundiced baby should have automatically triggered that test. Evie continued to remain underweight and all wheat and gluten was removed from her diet. This helped a little and she did start to grow and put on the tiniest amount of weight.

For the last 7 years Evie has had a chest infection for pretty much 3 weeks out of every 4. She has also had a few kidney infections although we are still unsure if there is any connection to Alpha-1! She remains hugely underweight for her age and has to drink Fresubin calorie drinks, we also add Duocal in powdered form to her food and drinks to boost her calorie intake. She also takes Azithromycin daily which is an antibiotic, in addition to the antibobiotic she takes to treat any infection, and uses two inhalers daily.

Due to the constant infections Evie tires easily and has subsequently missed a lot of schooling. Jemma, Evie’s mum, had to give up her job because of the amount of time she needed to take off work to care for Evie whilst she was ill. 

On average it takes 7 years for someone to be finally diagnosed with Alpha-1 Antitrypsin Defiency, please help us raise awareness of this rare genetic condition by liking and Sharing Squeezy’s Story.

Find Squeezy on Facebook:-