Celebrate Rare Disease Day

This was published in the Buffalo News (my local paper) at: http://www.buffalonews.com/2010/02/28/972097/be-supportive-of-people-living.html

Below is my submitted article. They didn't change much, but I figured I would share both versions.

Honor Rare Disease Day; Someone you know may be

We are all around you, and you frequently don’t know it. We have appointments to see doctors with specialties you cannot pronounce, and have experience going for tests that no one wants to think about. We are the “winners” of life’s lottery in a way that no one would ever want to win. We are patients with a rare disease, and February 28th is our day to “celebrate”.

On the last day of the month, the world recognizes Rare Disease Day in honor of people living with rare, or orphan diseases. Patients with orphan diseases are not necessarily infectious or dangerous, we are merely alone. No ribbons, no support groups, and hardly a celebrity willing to lift a finger. So what qualifies as a rare disease? These are diseases that are considered to be life-threatening, or chronically debilitating. The disease I suffer with is a disease called Acromegaly. While most readers have never heard of this disease, its effects are very real to me and the people who love me. This is a disease without fame, but with dire, even fatal consequences if it goes untreated. The number of people diagnosed with Acromegaly are roughly 3 people per million. Not exactly cancer, so support is limited. Research is hard to fund, patient information is extremely limited, and emotional support for patients is virtually non-existent.

The problem for the medical companies is that research is not profitable when so few people may benefit from a new medication. I understand why this happens, but it doesn’t make treatment any more fun for the patients or their loved ones. Moreover, my insurance company is not thrilled that my medication costs $52,000 a year just for medication, and alternative prescriptions are actually more expensive.

The bigger problem for patients than the medical end is the emotional side of an orphan disease. I wasted a decade of my life telling doctors I did not feel well before I finally found the right doctor who diagnosed me. The reason it took so long is that the symptoms are severe, but cross over several areas of medical expertise. Since diagnosis, I have never met another Buffalonian with the disease, which can be very lonely, and nearly impossible to get advice from people traveling the same path. When I went online looking for information, all I could find out was stuff written for doctors, and the fact that it killed Andre the Giant. Now there is more support. I have actually made a lot of contacts and shared a great deal of information with my virtual friends on facebook and AcromegalyCommunity.com.

Rare diseases can be extremely lonely and scary for family members too. As frustrating as it is to be a patient without support, at least we know what we are dealing with; our friends and family only know what we tell them. Family may be afraid to ask questions of the patient, and they rarely have someone who can sympathize when their family member does not feel well.

If you have a friend or family member who has a disease you have never heard of, be supportive. Just because you have never heard of it does not make the symptoms any less real for them. If someone you care about tells you they have been diagnosed with something rare, please try to learn about it. It shows you care. If they need help, even if it is just a sympathetic ear, be there for them. They probably don’t know anyone else that has the disease to talk with, and your warmth means the world. While we may not always remember to say thank you, we definitely feel it.

Celebrate World Rare Disease Day. Someone you care about probably is.

Send good thoughts to Trys!

Trys is going in for surgery tomorrow!

Best wishes for a successful tumor removal and speedy recovery!

Update 2/9/10: Sounds like the operation went well!   

Sandosatin and Somatuline sales up 17% and 18.8%

Regarding Novartis' Q4 2009 results, PharmaTimes reports, "Turnover of the acromegaly therapy Sandostatin (ocreotide) rose 17% to $316 million." In a separate article, PharmaTimes notes that "Ipsen’s Somatuline (lanreotide) range of drugs for acromegaly and neuroendocrine tumours was up 18.8% to 36.5 million euros."

What is causing the increase in both Sandostatin and Somatuline demand?  I could understand if one went up and the other went down, but both are up!  Either people are increasing their dose, or more and more people are getting prescribed these drugs.  What other explanations could there be?

Is this further evidence to suggest that acromegaly and pituitary tumors are on the rise, as Ms Moge suggests?

Blog Updates

Hey everyone. Ellen and I were able to meet for the first time today! It was my first time meeting someone with Acromegaly and it was a great experience. I felt like we were old friends since we'd already chatted online. And it was nice to share with each other, knowing that we've gone through similar experiences, and can truly understand each other in that way. She and her husband were so sweet and funny. And truthfully I never would've suspected she had Acromegaly if I'd seen her on the street. Meeting with Ellen also made me realize how remiss I've been in following up with people. I've noticed many of you haven't updated your blogs and I hope you'll take the time to post and let us know how you are. I hope everyone is doing ok!

Pesticides and Acromegaly?

In a comment on the last post,

Starbucks Addict said...

On the finding causes front, I'm wondering if any of you may have been exposed to pesticides regularly? We moved to our new home in 2001. We had a major ant problem and I started having our home treated for pests regularly. They sprayed outside the home every few months starting in 2001, and a few times a year indoors for the first year or two. I started showing visible signs of the Acromegaly in 2003.

Thanks, Jenny, for the insight! I had heard about a cluster of people with acromegaly in India where the local doctors suspected pesticide poisoning:

A Village of Giants, by Jayita Bandyopadhyay

and upon further research found this additional article from the same author which was actually published earlier:

Here comes the desi Hulk

A select quote:

"These cases are very common in rural India where pesticide poisoning is rampant," said Dr Baldeep Khurana, a general physician."

Have you been exposed to pesticides? Please describe in the comments section! We need to gather more information because this merits a deeper investigation!

Acromegaly, Schmacromegaly!

Happy New Year everyone!

I hope that 2010 is the best year ever for our health. I have some really big goals for this year, and I truly believe that if we work together we will accomplish them:

1) Raise awareness about acromegaly

2) Find the cause of acromegaly

3) Find the cure for acromegaly

My dream is that one day acromegaly will be completely eradicated. Seem impossible? IT IS POSSIBLE! Look a the way that learning about human nutritional needs eradicated scurvy. We just need a better understanding of this disease. WE CAN DO IT! IF WE DON'T DO IT, NO ONE ELSE WILL. No one is more invested in finding the cause of and the cure for acromegaly than us, the people who are living with it either personally or through a loved one.

So let's pull in all our energy, contacts, and resources to work together to make this happen! Ideas:

1) Raise Awareness (and promote early diagnosis):

• Continue to support the work of people creating awareness on the internet, like Wayne at AcromegalyCommunity.org. Wayne, you are an inspiration!
• Look for more news opportunities, like Almu's newspaper feature or Tanya Angus on the Today Show, and spread the word. I admire Almu and Tanya for speaking out publicly about such a personal issue.
• Reach out to celebrities with acromegaly (Tony Robbins, perhaps? Professional wrestlers?) and encourage them to be spokespeople for the disease. Maybe the loved ones of celebrities who have passed away due to acromegaly would want to help as well.
• Get acromegaly written into an episode of House MD (TV medical drama that focuses on diagnosis of rare diseases) or some other mainstream entertainment vehicle.
• Create a flyer or business card with information about diagnosing acromegaly to people who might be in a good position to identify potential cases of acromegaly

2) Find the Cause (so future cases can be prevented):

• Work together to find commonalities between us - we're rare so we need to connect the dots
• Learn as much as possible about our disease and gain understanding of what's going on in our bodies
• Promote research
• Participate in research opportunities

3) Find the Cure (to be free from treatments):

• Early diagnosis increases the likelihood of a successful and complete tumor resection, so this ties back in with raising awareness
• Emphasize to our doctors that we are interested in a cure, not just treatment
• Participate in clinical trials
• Learn how how the health care industry works so that we can encourage them to help us
• Do research and make connections. No one knows this disease better than we do - others have taken matters into their own hands, so can we!

(I haven't seen this yet but the trailer alone is inspiring)


(Lorenzo's Oil- I haven't watched the whole thing but the synopsis sounds like what I hope to accomplish with acromegaly)

This post is just to start the ideas flowing - come up with more and let me know what you're thinking about in the comments!

Side note- I am inspired by the work of Fran Drescher's work in the cancer community (Cancer Schmancer).

Anthony Robbins - A Giant?

During my last post, I did a little research on Anthony Robbins, the motivational speaker who happens to have acromegaly. I am hoping that he will become a spokesperson for acromegaly, so that the disease would gain more recognition and ultimately, more resources for research towards a cure and better treatment.

According to this bio, "In 1994, a routine medical check revealed a tumor in Robbins' pituitary gland. Robbins explains in Personal Power that the tumor was actually an adenoma that had infarcted several years earlier. Due to the pressure of the adenoma on his pituitary gland, he had circulating levels of growth hormone several times higher than what would be normal for an adult his age. This had resulted in a subclinical manifestation of the disease known as acromegaly, which doctors told Robbins was responsible for his remarkable growth spurts as a teenager, as well as his large hands and feet. (He is 6 feet 7 inches tall, or 201 cm). After consulting with multiple physicians, Robbins decided not to have the adenoma resected, as it was not causing any clinical manifestations."

I find it interesting that he has TWO books with "Giant" in the title - Awaken the Giant Within, and Giant Steps.

On Page 448 of his book, Awaken the Giant Within, he promotes HGH! I cringe because he mentions it under the heading, "The Fountain of Youth."

The book was written in 1992, so I suppose that was before he was diagnosed. Anyway, has anyone ever met him or discussed his acromegaly further? I wonder how his diagnosis has changed his outlook on life and his priorities. I wonder what he was like before he found out about his tumor and what he's like now. I know that my diagnosis was one of the most life altering events in my life.

More on giants by Ms Moge over on her blog, Giant Bridges.