Rock Climbing

How Rare Disease Affects Me

I get asked all the time why I am so passionate about RARE Disease.  I get asked even more why I have volunteered for the last 8 years for rare disease, without pay.  Individuals who have not encountered rare disease, or really thought about it for that matter, truly become confused by my drive and dedication – especially when it comes without a paycheck. Yet, even during this economic instability we have been facing over the last couple of years, and my bare minimum income after a divorce – the answer to fight for rare disease is still a simple answer for me:

Because rare disease affects me and millions of others.  We need to raise awareness and start making it a priority.

The more we ignore the reality of what is occurring around us, the greater the difficulty to fix the problem later on.  

In my family alone, we have had countless disease and rare disease sufferers generation after generation.  And, it never occurred to me until now – how much it has affected my family – mentally, financially, and of course – physically.

Life has a purpose.

Here’s the list:

My mom:   Diabetes, Graves Disease, COPD (Diabetes was once considered rare) Graves’ disease is a rare disease affecting the thyroid gland and often the skin and eyes.

Dad:  Multiple Sclerosis(Consistently battles his disease, with occasional liver/kidney/eye failure) Multiple sclerosis is a chronic neuroimmunologic disorder of the central nervous system involving the brain, spinal chord and optic nerves.

Great Uncle:  Neurofibromitosis (They called it Elephant Man’s Disease – he died at age 22) - - Neurofibromatosis is a genetic disorder of the nervous system. It mainly affects how nerve cells form and grow. It causes tumors to grow on nerves. )

Aunt:  Alzheimers/ Dimentia (Progressing quickly – She has Binswanger disease – a progressive neurological disorder)

Grandfather:  Severe Rheumatoid Arthritis (This is a rare disease in children – he died from complications of RA) My

Son:  Russell-Silver Syndrome (Has a fresh mouth at the age of 8.5 – but, managing his disease day by day)

Me:  Neurofibromitosis (I currently have a nerve sheath tumor in my left arm that needs to be removed.) (Still waiting for final confirm from Genetics)

My mom has struggled to keep herself and her husband healthy, through constant recurrences of MS attacks and recurring pneumonia – they have exhausted any financial gains they have acquired over the years and occasionally wonder if the next hospital visit is going to push them over the edge.

My Aunt took care of her mother to the age of 102.  Now, my Aunt struggles to remember where she is and why she is living with her daughter instead of relaxing in her own home (wherever that is).

My Great Uncle and Grandfather passed away at young ages – obviously, my grandfather old enough to have me in his life until I was 7 years old – but, they both suffered greatly.  Suffering from social disparity was just a small part of their pain – as their diseases were physically overbearing.

My son goes through stages of anger, denial, and self-doubt.  He wants to be a football player – and his doctors tell him NO.  With the disproportion of his head compared to his slight body frame – the danger of concussion and bone breakage is too great.  This recent news has deflated him and his desire to be “normal” is even more great.  My heart pours out for his tender ego and sweet heart.  I love him so.

For me?  Well, I choose not to have the tumor removed.  I’m too busy and I have more important things to concentrate on – taking care of everyone else.  Besides – I am currently without health insurance and could not afford the $40,000 or more that it would take to have such delicate surgery of the nerve.  I’m not ready to take the chance of having loss of any feeling in my arm – AND – really, the financial aspect is the biggest drawback.  No.  My arm rarely hurts and the tumor is not going anywhere.  I’m fine.

So, we have addressed the physical burdens of rare disease.  The emotional drawbacks.  The financial dependence and inability to pay for much of the treatments necessary to follow-through with maintenance.

It’s disappointing, to say the least – we as a society are so focused on so many things that only focus on our immediate wants, needs and desires – that we are failing to focus on the future.  We have failed to integrate technology, politics, education and patient centered care (for the most part) toward a much needed cause – RARE DISEASE.

For me, I find happiness in knowing that even if I make a difference in the life of one person with rare disease – I am effectively making a difference for my family too. And I will do anything to make it to the top.

At the top.

The Month of February

During the month of February,  much of the American population will be celebrating historical events, special interest groups and campaigns.  Some of these include Black History,  American History, Children’s Dental Health, and American Heart Month.  Internationally recognized events in February include National Embroidery month (my favorite), Wild Bird Feeding, Cherry and Friendship month.

To much of the Rare Disease Community, February has become a month to celebrate successes in research, tributes to organizations fighting for their cause, and remembrance of those who have lived with rare disease.

With the promotion of rare disease from organizations such as NORD, R.A.R.E. Project, EveryLife Foundation and Rare Disease Legislative Advocates, the rare disease community also has a chance to make a difference in research, managed care, and legislative processes.

Unity Makes Change – the ULTRA Act

 As we continue to unify our “voices” and bridge the gap between the rare disease community, members of Congress and those who are unfamiliar with rare disease – our solidarity has managed to strengthen the rare disease community and raise awareness of the unique needs of individuals with rare disease.

Together the EveryLife Foundation, Rare Disease Legislative Advocates, RARE Project, and others are working to bring the “many voices” of the rare disease community to Capitol Hill for Rare Disease Day.

With the ULTRA Act of 2012, H.R. 3737 – our goals to unite the rare disease community will not only help spur the development of treatments for very rare diseases but will promote excellent science and improve the FDA’s regulatory process for all patients with life threatening diseases.

To date, 107 patient organizations have already supported ULTRA & more than 1000 people have sent emails to their Congress Members.

We urge all organizations to come together as a solid unit and continue the charge of what February 29 means to so many with Rare Disease.  As ONE, we can make a difference.

For more information about Lobby Day on February 28:

http://bit.ly/RDLALobby

‘MEET JUNE!’

I am a 43 year old woman with Relapsing Polychondritis. 1 in 3.5 Million people are diagnosed with this disease. My favorite saying is “I couldn’t just win the lottery??”  I was diagnosed by my allergist who recognized my swollen ears, a hallmark of this disease. Some day it will probably kill me, but, as they say, ‘no one gets out alive’, it’s what you do with what you have that matters!

In the important parts of my life, I am a mom of two adult sons, a wife of 20 years, and have two dogs and two cats. My submitted picture is of my service dog, Dante. I am currently losing my hair due to the disease and medications, and he has a cheery smile.  I teach children with special needs at the Leavenworth School District here in Kansas, and return to Michigan to my home.  There were no jobs in Michigan so I came to Kansas to teach. My school family is wonderful and makes both living far from home and with this disease much easier.  I have a long- worked for Ph.D. in Autism, communication, and special education, which I earned May 2011.  RP was NOT going to take that away!

While I am a “survivor” with this rare, serious, difficult disease, I refuse to be defined by it.  As February 29th comes, we will be “Leaping for Rare Diseases” to raise funds for NORD, in a jump-rope-a-thon at the middle school where I teach.  I can’t jump but will be organizing and supervising.  I am hoping for research that discovers what causes, and cures, the rare illnesses all of us face.  My students, who live with Autism and varying other disabilities, will be jumping too!   For anyone who has this, or other rare diseases, we must continue to do all we can to make these “rare” diseases “cured” and eliminated. Once they believed chicken pox, rubella, measles, and many other illnesses could not be conquered. Once we understood them, we were able to practically eliminate them. This is my goal for our children’s future- that what is untreatable now will be unknown in the future.

June Cotter
Kansas

RDLA is partnering with the EveryLife Foundation for Rare Diseases, RARE Project, Sarcoma Foundation of America, Darlington House and ViroPharma to ensure that rare disease advocates are present on Capitol Hill during Rare Disease Week!  Join us and make sure Congress hears your voice!

Lobby Training Breakfast
7:30a.m. – 9:30a.m.  Darlington House 1610 20th ST NW Washington DC

Learn about the Rare Disease Congressional Caucus and legislation to help spur the development of treatments for rare disease patients, including the ULTRA Act and Creating Hope Act 

Hill Meetings with your Representatives
10:00a.m. – 5:00p.m. on Capitol Hill
Transportation will be provided from the Darlington House to Capitol Hill

Each advocate will be scheduled for at least three meetings

Happy Hour Lobby Day Celebration
5:30p.m. – 7:00p.m.  Darlington House 1610 20th ST NW Washington DC

Join us to share your meeting experiences and feedback from Congress
The happy hour includes appetizers & a no host bar

Please click YES below to register for this event.
You must provide your home address in order for us to help schedule a meeting with your Members of Congress:

Financial Assistance Available:  To help offset travel costs, $500 travel scholarships are available to advocates who wish to attend and have financial need.  To apply, please click here to download the application.  A limited number of scholarships are available.  Scholarships will be distributed in order to ensure a diverse representation of the rare disease community can participate.  Please return completed applications via email to patientadvocate@kakkis.org or fax at 415-884-0562.

HOTEL:  We have reserved a block of hotel rooms for Monday & Tuesday nights at The Embassy Row Hotel at the discounted rates of $169 single or $189 double per night.  The Hotel is located in Dupont Circle a 5 minute walk from the Darlington House.  To receive the discounted rate, please book directly with the Hotel by calling 202-265-1600 and mention the group “Rare Disease Day Lobby Day.”  Please book your hotel room immediately as we will not be able to guarantee this rate once our block of rooms is filled.  Discounted rate expires on Feb. 20th.

‘MEET ANDY!’

Hi, my name is Andy. I was born in Watford in the UK back in 1975.  In 1994, I moved to Australia to attend University.   This is also the same year my medical problems started with my first kidney stone a week before my nineteenth birthday.  Since then, I have had over 100 stones, thanks to a rare disease known as Cystinuria.  In 2000, I contracted my second rare disease, CIDP.  A peripheral nerve disorder that has left me with pain, numbness and severe weakness in my arms and legs.

Right now, I live in Melbourne with my wife and two young children.  I own an advertising agency in South Melbourne called FreeForm.  Unfortunately, my health problems preclude me from working there full-time, but it is a business that I started, I am proud of and passionate about.

If you want to find me around Melbourne, I can normally be found watching the cricket or staring at the sky through my telescope.  You can learn more about me by reading my blog at www.shakesandstones.blogspot.com.  Stay well:)

Andrew Price

Melbourne, Australia

‘MEET VANESSA AND JACOB!’

Vanessa and Jacob both suffer from a very rare genetic disease. They are the first known cases of duplication chromosome 14q32.33. They both have low muscle tone, vision problems, weakened immune systems, asthma, OCD, ADHD, and heart defects.

Vanessa has non alcoholic steatohepatitis, glaucoma, her right side is 2 inches shorter than her left, she has obesity through the trunk, and is bipolar. Jacob has Atrial septal defect and an anurysm in his heart, severe asthma, developmental delays, and has mild autism.

We have been told that there is no other case of this illness. Despite what they have been through and continue to go through they are strong children. They keep their chins up and smiles on their faces. They know that they are different from other kids but they are loved for who they are.

Our future is unknown, so far no one has been able to tell us what the future holds but our goal is to make more and more people aware of this illness and hopefully someone out there can tell us something. But for now we have God as our guide and he knows all about it.

Barbara Jennings
Kentucky

‘MEET NICO AND HIS FAMILY!’

Our eight-year-old Nico could likely give a pretty extensive tour of the Hospital for Sick Children (SickKids), his home away from home.  He could show off all the places he spends his time at:  the neurosurgery clinic; ophthalmology clinic; ears, nose and throat clinic; dermatology; cardiology; growth hormone program area; urology; gastroenterology; and neuro-psychology to name a few.

Born slightly premature, Nico was born with an unknown genetic abnormality and was having difficulty breathing and feeding on his own.  For his first five weeks, he underwent extensive testing, including MRIs, x-rays and other invasive procedures to determine the cause of his issues.  Doctors were unable to give us a diagnosis.

At 3 months of age his heart went into failure and he was rushed from his local hospital to the children’s hospital for emergency open-heart surgery.  Nico experienced numerous health complications following his first incident, including hydrocephalus (fluid on the brain), a brain hemorrhage, pulmonary valve stenosis and failure to thrive.  Over the years, he has endured 16 surgical procedures, six of which were major operations and we nearly lost him on at least 3 occasions.

We are still searching actively for a diagnosis for Nico as one has not yet been arrived at.  Genetics has said it is possible it is so rare we may never know, they have suggested for the time being we could name it “Nico Syndrome”.  Nico is the light of our lives, he and his two brothers have experienced much more that most kids their ages and they endure it with maturity and a positive attitude.  We are very proud of them and how they all handle the various issues that have arisen over the years.  They show us what is most important in life:  family!

WHERE:        Washington, DC

WHO:           RDLA

RDLA (Rare Disease Legislative Advocates) is partnering with the EveryLife Foundation for Rare Diseases, RARE Project, Sarcoma Foundation of America, Darlington House and ViroPharma to ensure that rare disease advocates are present on Capitol Hill during Rare Disease Week!

Join us and make sure Congress hears your voice!

SCHEDULE OF EVENTS:

Lobby Training Breakfast

7:30a.m. – 9:30a.m.  Darlington House 1610 20th ST NW Washington DC
Learn about the Rare Disease Congressional Caucus and legislation to help spur the development of treatments for rare disease patients, including the ULTRA Act and Creating Hope Act 

Hill Meetings with your Representatives

10:00a.m. – 5:00p.m. on Capitol Hill Transportation will be provided from the Darlington House to Capitol Hill
Each advocate will be scheduled for at least three meetings

Happy Hour Lobby Day Celebration

5:30p.m. – 7:00p.m.  Darlington House 1610 20th ST NW Washington DC
Join us to share your meeting experiences and feedback from Congress
The happy hour includes appetizers & a no host bar

You must provide your home address in order for us to help schedule a meeting with your Members of Congress:

If you can’t join us in DC, please stay tuned for Action Alerts!  We will email you ways to participate in Rare Disease Day from your home or office by making calls and sending emails to your Members of Congress and sending emails to support legislation that will help spur the development of lifesaving treatments!

Deadine for submissions is Jan 13

MarbleRoad who is managing this promotion was awarded an “Empowerment Grant” from Genzyme to hold an online contest within the rare disease community for age-appropriate stories reflecting the perspective of self, sibling, caregiver, or other relevant role in the illness experience and to help facilitate dialogue and understanding for families facing complex illness.

There are two categories for submission. One is picture books for pre-readers ages 0-5 (under 300 words) and the second is early reader books for children 5-7 (under 1300 words). Books should illustrate the perspective of self, sibling, caregiver or other relevant role in the illness experience.

Ten finalists will be chosen from all submisions to receive a video camera to further capture and express their rare story. The final videos will be posted online where the public will be allowed to view and like their favorites.

For more information, go to: http://www.myrarestory.org or follow #myrarestory on Twitter to learn more.

MarbleRoad is a non-profit, 501(c)(3) public charity whose mission is to connect people who have complex illnesses with the resources they need to help them improve their lives.

What is a blog hop?

A blog hop is when bloggers write about a common theme/topic on a specific date. The hosting blog (which will be us) will promote all participating blogs and each participating blog includes links to the other blogs within their own post enabling readers to hop from blog to blog. Our blog hop theme is RARE disease awareness and specifically for calling attention to upcoming World RARE Disease day and outlining ways people can get involved.

How will this work?

• Email us at bloggers@rareproject.org to let us know that you will participate. Deadline to enter is Monday, January 23rd.
• Write your blog post but don’t publish until Monday, January 30th. Click here to download our Blog Hop content sheet which you can use for your post but personalize with your own story and perspective.
• We will provide you a list of links (to other participating bloggers) that you add to the end of your post which will allow readers to easily “hop” from blog to blog.
• Tell your Twitter and Facebook followers/friends about your participation in the blog hop. Tweet with us @GlobalGenes and use #1MIL4RARE. Tag us on Facebook @GlobalGenesProject.
• Remember please do not publish your post until January 30th.

Why Are We Doing This?

The RARE Project exists to raise rare disease awareness, unify, equip and empower a vibrant global rare disease community and fund innovations to support “in-their-lifetime” rare disease research. We have pledged to unite 1 Million for RARE in 2012. Download our Blog Hop content sheet to read some of the astonishing statistics around rare disease. We hope you will sign up to blog with us. If you are not a blogger, you can still participate and help us raise awareness just by reading and sharing blog posts on January 30th.

Thank you!