Follow your nose to discover the cause of Wegener's Disease

I read a really interesting article on Med Page Today that theorised that the nose holds the clues to the cause of vasculitis (including Wegener's Granulomatosis).  

Could the cause of Wegener's Granulomatosis be found in the nose?

It starts off with a lot of technical jargon but don't let that put you off; the practical implications of that science are explained later in the article. I'll summarise things here too, to make it even easier.

The research was undertaken by Peter C. Grayson, MD, head of the Vasculitis Translational Research Program, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, in Bethesda, Md.

For many people suffering with Wegener's Disease, the first symptoms are experienced in their nose, with nosebleeds and sinus infections very common. This is one of the reasons it can be so difficult to diagnose GPA (granulomatosis with Polyangiitis), because doctor's are treating what they think is a sinus infection rather than the real cause of the problem. Many sufferers then go on to have worse symptoms such as crusting, bleeding and even the destruction of cartilage and bone.

Examining the genes of people with vasculitis to look for a cause is not a new idea, but what Grayson did was new. Instead of taking gene samples from the sufferer's blood, he took the samples from the original source - the nose.

"Increased SERPINA1 expression in nasal mucosa of patients with GPA raises the possibility of a protease-antiprotease imbalance in the nasal environment that could play a causal role in the development of GPA," Grayson and colleagues wrote.

"The study has given us a really nice list of candidate genes and ideas and pathways to pursue in future experiments," Grayson said.

Peter C. Grayson, MD

Peter C. Grayson, MD

"The observation that some of the genes we detected were related to the innate immune system suggested that there may be interactions going on between the nasal microbiome and immune cells within the nose. That's a really attractive idea for us to follow," he said in an interview.

They also plan to examine gene expression in deeper nasal tissue biopsy samples.

While this is a really interesting development, it is clear that this is not going to lead to an imminent major breakthrough. For one thing the study was very small and that could cloud the results which could be linked to rhinitis, sarcoidosis and other diseases. However, it is good to know that research is continuing into vasculitis and gives me hope that one day the cause, and ultimately a cure, may be found.

The article is called The Nose Holds the Clues in Vasculitis and you can read it here.

Image from M&R Glasgow under Creative Commons licence.

$30,000 fund raiser for Vasculitis Foundation

RALLYALLEY-PTR-100214-01_49084607.jpg

This is an older news item, but I only just came across it today. 

Jason Wadler of Glencoe, Chicago area, ran a fund raising event for the Vasculitis Foundation called Rally in the Alley which drew 225 people. He raised $30,000. The bowling event helped raise awareness of all vasculitis diseases, including Wegener's Disease.

Jennifer Naida of Round Lake, also a fundraiser host, was crowned Mrs. Illinois International in 2010. She was diagnosed with Wegener's in 1983, and she was able to talk to people about the disease, it's symptoms and that there can be hope, given that Jennifer has lived with the disease for 32 years.

You can read the full article here.

Legal battle over Rituxan (Rituximab)

Thankfully, the cost of drugs is rarely an issue for British people who need what would otherwise be a costly treatment. This is because we have the National Health Service which is the envy of many countries around the world and something we should be proud of.

Sufferer's of rare diseases, such as Wegener's, in other countries are not so fortunate. The USA is one of them, and I was reminded of that fact when reading a news article about an ongoing legal battle between Pharmaceutical Research and Manufacturers of America (PhRMA) and the US federal government.

US fight over the cost of Rituxan (Rituximab)

US fight over the cost of Rituxan (Rituximab)

Last October the government, through the U.S. Health Resources and Services Administration (HRSA), ruled that pharmaceutical companies must reduce the cost of their drugs by up to 50% if the hospital they are used in serves a poor population. 

In May of this year PhRMA successfully sued the government so that the rule could no longer be enforced. However, the matter is now back in the courts once again.

Rituxan, known as Rituximab here in the UK, is one of the drugs that is in the middle of the dispute (this was the drug that saved Alicia's life). That's because it was initially used to treat Rheumatoid Arthritis but has found to be effective when treating other 'orphan' conditions, such as Wegener's Granulomatosis. The rule only allows for hospitals to obtain the drug at a discount when treating the non-orphan conditions.

I personally hope that the HRSA wins the latest legal battle so that there is at least the possibility that sufferers of rare diseases in deprived areas will have access to the best drugs possible. The alternative is that the hospitals can't afford them and the costs are passed on to the patient.

Having to worry about money when you are already stressed about your health is an unnecessary extra burden.

You can read more about the story here on Fierce Pharma.

Image from Images_of_Money on Flickr.

Ayesha Ahmed, Wegener's Disease sufferer, dies after double lung transplant

I read a tragic news story this morning. Ayesha Ahmed, who was fighting Wegener's Disease and had a double lung transplant, died at the age of 21. Incredibly, she lives less than 5 minutes away from Alicia and I and was treated at the Freeman Hospital, where Alicia received her treatment. It makes me wonder just how many individuals and families are fighting their own private battle with this disease and nobody knows about it.

Ayesha Ahmed - Wegener's Disease

Ayesha Ahmed - Wegener's Disease

Ayesha was the youngest ever Wegener's sufferer to undergo a double lung transplant. Prior to the operation she had been hooked up to an oxygen machine almost 24 hours per day, and every breath she took was painful. Ayesha often had to use a wheelchair.

Ayesha had the operation in February 2011 but was rushed to hospital four weeks ago as her health deteriorated. She died on the 25th July after developing pneumonia. 

I read about the story on our local newspaper's website, the Evening Chronicle. I have contacted them to thank them for bringing this terrible disease to the public's attention and to see if there is anything Alicia or I can do to help.

Here is the link to the Evening Chronicle article.

Good news for Wegener's Disease sufferers? UK Government unveils new rare disease strategy

Transient

The ‘UK Strategy for Rare Diseases’ contains over 50 commitments to ensure people living with a rare disease have access to the best evidence-based care and treatment that health and social services, working with charities, researchers and industry, can provide.

The UK commitments are in 5 areas:

  1. Making sure patients and their families and carers have the information they need, are listened to and consulted.
  2. Developing better methods of identifying and preventing rare diseases.
  3. Improving diagnosis and earlier intervention for those with a rare disease.
  4. Developing better coordination of care for those with a rare disease, including joined up consultation and treatment schedules.
  5. Building on research to improve personalised approaches to healthcare for those with a rare disease.

All 4 UK countries will work together to achieve these goals but will produce their own plans by February 2014 to help put the strategy into action.

3 documents set out the countries governments' shared vision.

UK strategy for rare diseases.

UK strategy for rare diseases - commitments.

Membership of the UK Rare Diseases Stakeholder Forum.

Let's hope that the reality matches the vision.

Image courtesy of Sean MacEntee.