What's in a name?

To even be classified in the rare disease category, the disease can only have effected less than 200,000 patients. Defined by NIH, rare diseases are "life-threatening or chronically debilitating diseases which are of such low prevalence that special combined efforts are needed to address them." In total there are about 6,800 rare diseases that affect about 25 million to 30 million Americans in total.

In the world today, there are only about 50,000 cases of patients who are living with a Sarcoma related cancer. Of that population, about 12,000 new cases are diagnosed each year and about 5,000 patients lose their battle each year as well.

A Sarcoma is a rare cancer in adults (1% of all adult cancers), but rather prevalent in children (about 15% of all childhood cancers). It is made up of many “subtypes” because it can arise from a variety of tissue structures (nerves, muscles, joints, bone, fat, blood vessels - these are collectively referred to as the body’s “connective tissues”). Because these tissues are found everywhere on the body, sarcomas can arise anywhere. Thus within each type of the “popular” cancers, there is the occasional surprise for the medical pathologists (e.g., breast sarcoma, stomach sarcoma, lung sarcoma, ovarian sarcoma, etc.). But the most frequent location are the limbs, since this is where the majority of the body’s connective tissue resides. It is often hidden deep in the body, so is often diagnosed when it has gotten too large to enable a hope of cure.

Researchers have made considerable progress in recent years in figuring out ways to diagnose, treat and even prevent a variety of rare diseases. Still, much more remains to be done because there are no treatments for the vast majority of rare diseases.

The Orphan Drug Act of 1983 provides incentives for drug companies to develop treatments for rare diseases. In the 25 years since the Act was signed into federal law, the U.S. Food and Drug Administration (FDA) has approved more than 340 treatments for rare diseases.

Recently, the National Institutes of Health (NIH) launched a new effort, called the Therapeutics for Rare and Neglected Diseases (TRND) program, to create an integrated research pipeline to jump start the development of new treatments for rare and neglected disorders. The NIH Office of Rare Diseases Research (ORDR) handles oversight and governance of TRND. The laboratory work for TRND will be performed in a facility administered by the intramural program of the National Human Genome Research Institute (NHGRI).

To provide patients and their families with timely and reliable information, ORDR and NHGRI have created the online Genetic and Rare Diseases (GARD) Information Center. GARD offers a searchable, frequently updated Web site located at: http://rarediseases.info.nih.gov/GARD. Users can also contact GARD's information specialists directly by e-mail, telephone, FAX, TTY or postal mail.

In addition to GARD, there are many non-profit groups that provide information and support, promote research and advocate for policy issues related to various rare diseases. Among the groups that span a broad range of disorders are the National Organization for Rare Diseases, http://www.rarediseases.org, and the Genetic Alliance, http://www.geneticalliance.org.

Also, Uplifting Athletes, http://www.upliftingathletes.org/, partners with collegiate football teams raising awareness through outreach, research, education and advocacy for rare diseases.

To learn more about specific rare diseases, please check out the National Institutes of Health, Office of Rare Disease Research, http://rarediseases.info.nih.gov/Default.aspx.


Raising Awareness for Rare Diseases .......

Abnormal is the new black ....

Initially I started this blog to help our friends and family members track Andrew's progress through his year-long cancer treatment. But more recently I have been receiving phone calls and emails from friends and family members about their own life-changing medical experiences, that I thought I would broaden my topics to help my loyal audience understand how we managed Andrew's overall care, health and well-being and our own sanity throughout this ordeal. And how we continue to deal with issues as they arise on a daily basis ... here is our story.


As much as I think our married life is 'normal', I have come to realize that my perception of what is 'normal' may be a little off base. About 2 months ago I started a new job at a university in the Northern Virginia Area. Meeting new colleagues and learning a new routine has its' own challenges but trying to explain why I have not been working for the past 10 months, and that I didn't have a baby and wasn't laid off by the economy or the recession, has left me to question about the normalcy of our past year.
Anyone who has gone through a major life-changing experience can relate to the awkwardness that occurs when colleagues ask, "So what were you doing before you came here?" Any normal, warm blooded mammal would want to respond honestly, that is of course your first reaction, but not all recipients of the answer can handle the truth. I have been delicately walking the line between the truth, 'I have been taking care of my husband who was battling cancer for the past year'; and a canned less truthful answer, 'I was at another university and then took some time off for the past year to deal with personal matters.' No matter which answer I give, eyebrows raise and in most cases curious questions follow. Saying that you have been away from work on personal matters usually gives people the impression that you, personally, were locked up in a padded room, for some time ,and only given foods that could be eaten with a spoon while rocking back and forth humming to yourself .... Kinda think about it, maybe I should have chosen that option this past year!! But using the C word ... Cancer ... always makes people stop in their tracks. When I say cancer, I can see people's reaction. They tense up and give me that 'deer in heads lights' look so commonly associated with the shock of hearing that someone Andrew's age was struck by this disease. And usually after the initial shock leaves their body, a wave of pity follows with a follow-up question of, "So is he ok now?" I find myself laughing at that question now and one day I'm going to be brave enough to answer back, "That depends what your definition of ok is? If your definition is that we live our life every 3 months to 3 months just waiting to see if his most recent scans are clear from cancer or if it has reoccurred and wondering what we will do next if it has ... then yes, he's just fine!!" But my normal response is, "yes, he's fine."
For most people, it is hard to fully grasp the concept that someone who seems very healthy on the outside, actually has cancer on the inside. Something that I've learned first hand is that cancer does not care who you are, how much money you have, if you are a good person or not, or if you can handle the disease. It can strike at any time and without warning. And no one is immune to its deadly path of fury.
So here are a few things to remember when someone tells you that there life, loved one, or themselves is or has been affected by cancer:

1. Be supportive, but not intrusive. Ask if you make dinner; take the kids for an afternoon; drive them to an appointment; do the laundry or clean the house. Name specific things you would be happy to do instead of putting the 'ball in their court' to call when they need something.

2. Even if you are upset to hear the news, be respectful of others feelings too. It is hard enough for some people to say they have cancer without having to console you.

3. Listen without always needing to respond or add your own personal story to the conversation. Cancer patients and their caretakers sometimes need to vent their fears and frustrations without judgment or comment.

4. Treat the person affected by cancer as normal as possible. No one wants to be treated like they are sick all the time, so allow the patient to back-out of plans only if they want to.

5. Don't be afraid to talk about the illness but don't always make it the topic of conversation. Being inquisitive and concerned is natural but being overbearing can become a burden.

6. Be honest with the person who has cancer if you cannot handle hearing about their disease. Not everyone can bear to see and hear about the patient for their own personal reasons, but being honest upfront is always the best policy. In that case, sending cards or emails is a great way to show you care.


No matter what, always be mindful of what the cancer patient and their families wishes may be but always be supportive in any way possible. Cancer does not always have to mean the worst and with new research being discovered every day, maybe one day soon, we will see a cure for this senseless disease.


Raising awareness for Rare Diseases ....

Raising awareness for rare diseases ....

Today begins my own personal journey of writing more blogs, less about mine and Andrew's personal day-to-day activities and more about the broad topics that we have encountered over his year of treatment. I get calls all the time from friends and family members who are dealing with their own life-changing medical events and they ask how to find the right doctor; keep up-to-date on the latest medical articles; organize their medical records; and how to deal with insurance. This is a good time for me to write about how I made it through this time, kept my sanity (which is obviously up for debate most days) and came out the other end with a smile. I am aware that not all life-changing events turn out with a positive outcome like ours, and I will touch on more sensitive topics as well.
I look forward to receiving feedback from my loyal followers and hearing about questions you would like answers. And as always, thank you for your love and support.

Raising awareness for rare diseases ......
xoxo,
Amy