Rare Disease Day
Rare Disease Day takes place on the last day of February every year. It was first launched by EURORDIS and its Council of National Alliances in 2008. Since it's launch, thousands of events have taken place throughout the world reaching hundreds of people and resulting in a great deal of media coverage. This year, 2017, marks the tenth international Rare Disease Day coordinated by EURORDIS. Hundreds of patient organizations from different countries and regions all over the world hold awareness-raising activities and events based on the declared theme of that year. The main goal of this day, and the days surrounding, is to raise awareness amongst the general public and decision makers such as, policy makers, public authorities, industry representatives, researchers, health professionals, and anyone with the general interest about rare diseases and the impact it has on patient lives. Its campaign started as a European event and has continuously become a world phenomenon, with the USA joining in 2009 and participation in over 80 countries throughout the world in 2016.
Every year they have a theme and a slogan. In 2014, the theme was care. The slogan was "Join Together for Better Care!" 2015's theme was living with a rare disease. That year's slogan was "Day-by-day, hand-in-hand". In 2016 they decided on patient voice as the theme and"Join us in making the voice of rare diseases heard" as the slogan. Finally this year, our theme is research. Slogan being "With research, possibilities are limitless".
As I was thinking and researching about the theme and slogan of this year's campaign, I realized how the two truly represent my life in the last three years and especially at this current point. There's a couple different roads I want to go down with these things, so I'll start down the first one.
First, I want you to really allow yourself to feel and visualize as you read through the rest of this post.
Imagine, one day, you notice something is just off about your body or is certainly not right. Something has changed and you don't know what. After waiting maybe a week or so to see if it just "clears up" or "goes away" you go into your primary doctor. There, you try to explain your symptoms. Which, more often than not, don't entirely make a lot of sense. Usually, at least in my experience, that's when the doctor tries to troubleshoot with the symptoms that most make sense or pair together. In my case, shortness of breath on exertion and perfectly normal stats at rest , coupled with the fact I just had a 9 lb baby, made them think I was simply out of shape. Later, they attempted allergy and asthma testing.
After you've seen many different doctors in their specialties and all the tests, scans, and possibly biopsies come back clear or negative or even inconclusive, you sit back down with your doctor who's reviewed all the results and reports. They look at you and explain: they do not know what is wrong. There is something wrong but nothing explains your symptoms or why the results are what they are. Imagine how you would feel and what would be going through your mind. If you are lucky, you're able to go to a specialist who can diagnose your disease but they tell you that there is NO CURE or even treatment available. Or that the treatment available is not fully effective but just the best possible option. Take a moment to really put yourself in that position because 30 million people in the United States alone are living with rare diseases. This equates to about 10% of the United States. It is estimated 350 million people worldwide suffer from rare diseases. According to Kakkis EveryLife Foundation, 95% of rare diseases have not ONE single FDA approved drug treatment. Due to the broad diversity of disorders and relatively common symptoms which can hide underlying rare diseases, initial misdiagnosis is common. In addition, symptoms differ not only from disease to disease, but also from patient to patient suffering from the same disease. As a result of the rarity and diversity of rare diseases, research needs to be international to ensure that experts, researchers and clinicians are connected, that clinical trials are multinational, and that patients can benefit from the pooling of resources across borders.
Another way the 2017 slogan is so true to my life at this point is that it helped make the decision to move forward with transplant. When my parents and I finally sat down in my hospital room with Dr. Lane on January 27, we were told the heart-sinking reality of a short life expectancy without transplant. After the shock wore off, we realized that transplant is the better option because of the nature of my diseases. PVOD has absolutely no research, no drug therapy, and no funding. PAH also has very little research and funding. Transplant, on the other hand, has tons of funding and new methods of transplant and rejection therapy are still being studied and implemented. Transplant is essentially the lesser of two evils. Research and funding make a difference, but the only way to achieve these differences is through increased awareness.
Finally, I want to try and take you down one last road. In order to do so, I had to call a mother who's child was diagnosed with a rare disease. Holly and her husband Todd are the parents to an incredible and beautiful little girl name Cora. Cora was diagnosed with a rare disease called Tay-Sachs disease. (I will get more into this later on.) We know this amazing family because my mom signed up for "iRun for Michael," which paired her with Cora on June 8, 2015. Through this, we've gotten to know Cora and what her parents have endured because of her disease.
Cora was born August 15, 2013. At 7 lbs 14 oz she was as healthy as could be! Like every parent, Holly and Todd looked forward to and dreamt of what their new bundle of joy would bring to their lives and what she would be! 6 months and Cora's developmentally on track everything is looking good! 7 months comes and she was a little behind so they started some physical therapy. 9 months, Holly and Todd begin to notice something isn't right. They began doing the usual cluster of tests: EKGs, EEGs, X-Rays, and lots of blood work. It all came back normal! Cora began to develop an eye drift; she would look up and sort of "hang out" staring up and then she'd snap out of it and come back. She also wasn't sitting up the way she ought to at that age. These are the reasons Holly and Todd refused to give up and continued to push the doctors and specialists. Advocating persistently is the key when it comes to many patients with rare disease. "No" is unacceptable and "we don't know" is not good enough of an answer, especially when it's your child.
They then went from a neurologist to an ophthalmologist who informed them that she has cherry red spots on her retina. Your retina ought to be all red, but Cora had only a spot and the rest of it was mostly a creamy sort of pinkish color. Basically, she was seeing through pinholes. The doctor then starting talking about what he thought could be the diagnosis and other things that could explain what was happening. But when he started walking out of the office what he said has stuck with Holly... "we just need to figure out if this is survivable or not". Can you imagine hearing a specialist say that about your precious child?! I can't; it would absolutely rip me apart. Holly immediately thought, "What!? But she's only 10 months?!" They began ordering different tests like blood work which had to be done in multiple visits because she was so small. Cora also had genetic enzyme testing which took about two weeks. As they were waiting, Holly and Todd began looking into what they knew and what the doctors were testing for. They began to tell family and friends that best case scenario Cora would be blind. Worst case scenario: Tay-Sachs disease. On July 1,2014, the doctor delivered the news. Cora was diagnosed (age 10 and a half months) with Tay-Sachs disease -- a disease with no cure, no treatment, and no therapy of any kind, one that ultimately ends in death by age 5. Now, imagine if that were you. You are the parents and your child was given a diagnosis with no hope for a cure. This is your child. For those of you with children, can you even imagine? Those of you without children, either think of a child important in your life, or the future child you hope to have one day. This is why awareness is so vitally important. With awareness comes funding, funding brings research and the desire to treat and possibly cure people with a rare disease.
I want to take advantage of you reading my blog right now and bring a little more information about Tay-Sachs. Children with Tay-Sachs disease lack a vital enzyme, hexosaminidase A (Hex-A). Hex-A is needed for the body to break down a fatty waste substance found in brain cells. Without Hex-A, this substance accumulates abnormally and causes progressive damage until the nervous system can no longer sustain life. Gradually, Tay-Sachs children lose motor skills and mental functions. Over time, the child becomes blind, deaf, mentally impaired, paralyzed, and unresponsive to the environment. Symptoms, of course, vary from person to person.
Tay-Sachs, as I said, has no cure, treatment, or therapy. Most drug companies won't even take the time because they can't get their money's worth. The hope would be that one day there's a way to manufacture and deliver the enzyme that will cross the blood brain barrier. In the attempts made, the brain ultimately flushes the enzyme out. There is an experimental drug, but that is to prolong life not improve the quality of life. Most insurances won't even cover the drug. Patients have to endure invasive testing and placed on a ketogenic diet (drastically low carb and high fat diet that puts the body into a metabolic state--ketosis). They have extreme weight loss, vomiting, and many other extreme discomforts that Holly and Todd did not feel was worth putting Cora through. Their attitude is to manage Cora's symptoms and not spend her whole life fighting her body. When it comes to the hard decisions, Todd and Holly have to ask themselves, "Is this for her? Or is this for us? So that we can keep her around longer."
Holly did express that sometimes, when she sits and thinks about it, it doesn't feel real. Like, this isn't really happening, it can't be. I for one, can relate with my own life because I, too, usually at night, sit and think..."No... this isn't real. I can't be this sick." However, in the back of your mind, you know it is.
In the early days of her diagnosis, they went on trips, like Costa Rica for two weeks, Boston, Bar Harbor, family reunion in Georgia, and one of their favorite spots, Asheville in North Carolina! They knew that soon they wouldn't be able to travel as much or as easily and they wanted to make the most memories as possible! Each birthday is a celebration! They also celebrate half birthdays as well, and now celebrate each month that they still have with her.
Todd and Holly were blessed to have another little girl! But the fear that this child could also have Tay-Sachs was a very real possibility and fear. Thankfully, she does not. They try to get as many photos with her and of Cora and her sister. Ultimately, they just enjoy her as much as they can. When I asked what sort of things they do, the first thing she said was, they just hold her. To a parent, just holding your child sick or not is everything. I am blessed to have gotten to talk with Holly and hear from her own mouth about their journey and how they make the most of what they have been given. She's incredibly strong and inspiring. This family has truly touched me and now I understand, for my own, why they hold such a special place in my mom's heart. Below are some photos and a link to her Facebook page "Celebrating Cora." If you want to know more, go check it out!
One last tid bit before I finish! A very easy way to help bring awareness to any kind of disease is looking into different fund raisers! From races, walks, to anything else of that nature. Simply volunteering your time to help the organizations etc! Most diseases, even rare, have some sort of organization or association they fall under. They all, usually, have a website where you can find their list of planned events for the entire year and where they'll be held, what they'll be, etc. For example, Team Phenomenal Hope (for pulmonary hypertension) is doing a big 5k walk/run in Pittsburgh on April 2! Lastly, I just want to thank you all for your continued support and love. It's truly been overwhelming and I am blessed.
Celebrating Cora! --> www.facebook.com/celebratingcora
