Christina's Story: Feeding Tube Awareness Week

 This year for feeding tube awareness I have really been reminiscing about the last year.  Last year this week I had just had my very first feeding tube placed. I had such mixed emotions about it.  I knew I needed it, and I just wanted relief, but at the same time I had no idea what life was going to look like for me with a tube.  Would my boyfriend be freaked out?  What will my grandparents understand?  Will I be stuck at home all the time?  How will I have to dress to accommodate it?  

 I have a G-tube MicKey button.  It was supposed to be a GJ tube, but due to breathing complications during placement we had to stop the procedure. But honestly I have been perfectly happy with the G tube so far.  For me the tube serves a few purposes.  One, it allows me to bypass my esophagus as I am unable to properly swallow foods or meds.  They either go into my lungs or just sit in my chest.  The other benefit is that I am able to receive a hypoallergenic and easily digestible formula that doesn't trigger the same Mast Cell (allergic) responses that regular foods do and it is easy on my slow digestive motility. It has actually been a huge blessing in my life. I thought that I was going to feel more stuck at home because of it, but if anything I feel more freedom.  Now I can feel confident when I go out that I won't have to worry about finding food I can eat or feeling sick. I used to have to skip meals for a whole day if I had plans because the second I would eat I would start to be sick. 

 We don't know how long I will need the tube. We are doing our best to improve my swallowing and stabilize my allergic responses, but the truth is I don't really know what the future holds for me.  We don't even really know if the swallowing issues are due to all of the spinal instability/spinal cord compression I have had, the surgeries I have had to stabilize it, or if its just due to having a floppy throat from EDS.  So who knows, this could be my last feeding tube awareness week, or just the beginning.  I couldn't tell you. But I can tell you that its been such a powerful thing to be a part of.

Before having my tube placed I barely knew anything about feeding tubes (they aren't exactly something that comes up in a lot of everyday conversations).  And turns out Im not the only clueless one, because I have actually had to teach multiple nurses how to use one. I guess that MicKey buttons are especially uncommon, especially in my age group. There really needs to be more awareness around this stuff. Yes, people besides babies and elderly people sometimes need feeding tubes. No, I don't have an eating disorder. And yes, people with feeding tubes can actually live fairly normal lives, it isn't always just an end of life intervention. In fact, for many of us, when asked, we will tell you that it was really more like a beginning to life.  

This Spotlight Story was written by Christina Doherty, you can find her YouTube Channel and Etsy shop under the "Our Community" page as Water Color Me Impressed. Instagram: @watercolormeimpressed

Taylor's Story: Feeding Tube Awareness

Happy feeding tube awareness week! In honor of this week, I thought I would share my story of how I got a feeding tube.

My journey with feeding tubes started over four years ago. I was having stomach issues for three and a half years prior, but things did not get worse until I got pancreatitis my junior year in high school. After that, I started to have extreme pain every time I tried to eat that also included bloating, nausea, constipation, and distention. I started to rapidly lose weight and that is when I received my first tube. I had an NJ tube, or nasojejunal, which means a tube went in my nose and by passed my stomach so it is in my jejunal, or small intestines. I was able to gain some weight back and got my tube pulled out.

Towards the end of my senior, I started not to be able to eat again. The pain was too much to handle from eating. I started to get extremely thin and malnourished. I was then diagnosed with chronic intestinal pseudo obstruction, or CIPO. In short, CIPO is when your muscles and/or nerves cause symptoms like a bowel obstruction, yet there actually none. The intestines cannot contract and push food, stool, fluid, and air through the intestines. This diagnosis led me to be on total parenteral nutrition, or TPN. TPN is intravenous nutrition. It does not go into your GI tract, but instead through your veins. This allowed me to have a bowel rest and have nothing going into my stomach or intestines. A broviac line, which is a central line, was placed into my chest so I could have access to receive my TPN. After a few months I was able to gain back all of my weight. It was then decided to trial being off of TPN and try food again.

I was doing okay for a little with eating, but it did not last long. Once again I lost all the weight I had gained and then some. I was at my all time lowest weight. I went back into the hospital for immediate nutrition and it was decided that I should try going back to tube feeds instead of TPN. I had an NG (nasogastric) tube placed, which meant I had another tube go through my nose and this time it went right into my stomach. I gained back my weight again, but the feeds were causing so much pain, nausea, distention, constipation, and bloating still.

 (before and after getting nutrition for three months)

After more testing, I was diagnosed with gastroparesis. Gastroparesis means stomach paralysis. It is a motility disorder that delays gastric emptying so food slowly moves through your stomach and into your intestines or does not move at all. Because of this and my CIPO diagnoses, we concluded that it was best to go with a more permanent tube and a different type.

I now have a GJ feeding tube. It stands for gastrostomy-jejunostomy, which means the tube is in both your stomach and intestines. I have this particular one so I can do tube feeds through the J port that goes into the intestines to avoid the pain of feeding into my stomach. The G port goes into my stomach to vent air out and to drain stomach acid.

While my feeding tube does not cure me from all my medical problems, it stops me from becoming malnourished. I still have pain and other symptoms, but I have a little more energy to do something every once in a while. Without a feeding tube, I would not be here. It has literally saved my life more than once and for that I am grateful to have one.

This Spotlight Story  was written by Taylor Kulp: I am 20 years old from Pennsylvania. I have multiple chronic medical conditions and absolutely love dogs.  Instagram: taylornkulp

Alice’s Story: Why I Want To Hear The Word "Vascular" More Often

I am twenty-one years old. I am a college graduate, I eat my vegetables, do my physio, and love animals. I am kind, funny, and compassionate. I am just like any other twenty-something with goals, dreams, hopes, and fears. Except, as anybody diagnosed with a serious and lifechanging illness understands, we are nothing like the average person in our age range.

I am only in my third decade of life with the crumbly joints of an elderly person. I have learnt how to self-relocate joints, how to wrap myself tight enough to hold my body together, how not to cry until I’m in the car after every awful appointment. It isn’t uncommon for me to get stuck in the bathtub, or to accidentally cut myself with the most mundane objects (seriously, the bristle end of a toothbrush?), and I have a nasty habit of fainting and concussing myself. With all my years on this planet, and these experiences, I thought I understood fear.

Exactly two months ago was the day when everything really started going downhill. Most of November 8th is a blur for my family and I. The visit to the hospital started off well, having my poor, broken body prodded, and manipulated into positions only faulty connective tissue can manufacture. My Beighton scale and Brighton criteria were positive, my doctor’s jaw dropped when she watched me dislocate my shoulder with zero pressure involved. As the testing continued, we began to relax – breathing became a little easier as we had realised that we were FINALLY being taken seriously. Unfortunately, the experience didn’t stay this positive. We were instructed to take a seat, so we could discuss the doctor’s ideas and opinions surrounding the question of me having Ehlers-Danlos.

The word just fell out of her mouth, no empathy or feeling involved, as she stared at me. Vascular. . Forty-eight. Forty-eight is the average lifespan for a Vascular Ehlers-Danlos Syndrome (EDS) patient. That’s 27 years left, if I follow behavioural trends in the same way I do in other areas of my life. Sure, I was hypermobile, but I also showed signs of significant vascular involvement. I couldn’t speak, or think. Hell, at this point, I could barely contain the contents of my stomach (slow digestion problems, anyone?). After years of extensive research into the possible causes of my failing body, we had never considered vascular issues. The more I thought about it, the more features of Vascular EDS I could see in my mother. My best-friend, my hero, and my biggest advocate. It’s a whole other world of pain when you can recognise aspects of a deadly disease in someone you adore and would do anything to protect.

Luckily, it has been two months of healing. During this period, we both have undertaken more research than I thought possible. We have cried, dealt with grief and anger. But most of all, we have clung to each other, offering support in a way nobody else could provide. Being diagnosed with such a taxing condition is life altering, your world is turned upside down with a single sentence.

If you’re going through the diagnostic process, for any illness, I want you to know you’re allowed to cope with your new reality in any way that is healthy for you. You get to be a little bit selfish, and you’re allowed to take as much time as you need to process what’s happening. You’re allowed to cry as much as you need to, but you’re not allowed to give up. Take it one day at a time, and just keep breathing, even if you feel like you can’t anymore. Better days are on the horizon, even if the improvement comes from your mentality towards your new label rather than physical improvements. Realistically, it won’t get easier straight away, but I promise it does start to hurt a little less over time. I found that the more we understood what was going on, and the more prepared we were, the easier it became! Chronic illness warriors are the bravest people I’ve had the privilege of meeting, be it in real life or through the interwebs. I have zero doubt that you can do it.  

To my vascular babes especially, my inbox is ALWAYS open for anything you need. I know how terrifying and lonely it is, when all the information about EDS focusses on types 1-3. Vascular Ehlers-Danlos is chronically underrepresented, but together we’re going to change this! We are the pioneers of better medical treatments, we are the patients that will improve quality of life for the patients of the future, and together we can change the way EDS is represented and diagnosed. Personally, I view this as the biggest blessing of all. Not every person has the capacity to cope with hardships like we do, we are warriors.  

The Spotlight Post was written by Alice, a post-graduate linguistics student from New Zealand fighting Ehlers-Danlos syndrome, collecting comorbidities since 2010. Follow her and Contact through Instagram: @vascular.vibes

Christine's Story: How to Save a Life (Suicide Prevention Day)

This Spotlight post is written by Christine Toupin. Trigger warning: This Spotlight post deals with mental illness, self harm, suicidal ideation, attempted suicide, and medical negligence. 

September 10, 2016 is World Suicide Prevention Day. It's been just over 30 weeks now since I attempted suicide, so this particular day has significant meaning to me. I didn't know about World Suicide Prevention Day until recently, and I think it's a great concept. But I do have one problem with it. Every day should be a suicide prevention day.

February 3, 2016. When I called 911 twice telling them that I was suicidal. That should've been a suicide prevention day. They should've taken me seriously. They should've responded in a manner equivalent to the intensity of the situation, and they didn't. Instead, they came to my house and told me that I was fine. That night I took an overdose that was intended to kill me. I wasn't fine. I wasn't just an overdramatic, rebellious, attention seeking teenager. I was hurting. I was unsafe. I was crying out for help desperately. But that wasn't a suicide prevention day. I almost died that day. That day should've been a suicide prevention day.

Everyone has their own set of coping skills and they look different in every single person. Granted, some are far healthier than others, and some coping skills aren't healthy or safe and that's important to address. But coping skills are still coping skills and sometimes they're the only things that keep people going. So before judging someone's coping skills or blaming them, it should be considered that perhaps they're at a point where those coping skills are the only things that they have left. Maybe they need more support instead of judgment. Maybe they feel hopeless. Maybe they need help. Maybe before you take away the only thing they have left you should give them some support. Every day should be a suicide prevention day.

So how do we make things different? How do we take steps to prevent suicide, not just on one day a year, but every day?

Listen to people. Make sure people know that you're there for them. Respond with support and kindness and without judgement or condemnation. You might be the only person with whom they ever share how they're feeling. When someone trusts you enough to tell you something serious, always take it seriously.

Ask questions instead of making assumptions. Don't assume that depression is the same for everyone because it isn't. Don't assume that someone is fine just because they're smiling. Ask them "How are you doing today?". See what they say. Maybe they're doing great. Maybe they aren't. But you can't know if you don't ask.

Reach out regularly. Instead of making a ton of effort one day to tell the world "If you need help, I'm here!", make it clear to people in the little things that you do every day. When you know that someone is having a hard time, ask them how you can help. From time to time, if you want to make that Facebook post or whatever saying that you're there for everyone, go right ahead, any day that you'd like. Reach out anytime you find it appropriate, not just once a year because everyone else is doing it. Go with that gut feeling. Reach out to people who are hurting. You just might save a life.

If you're hurting, get help. There are people who want you to keep living. You are worth something in this world. Ask for help. Make today your suicide prevention day.

Take steps to prevent suicide. September 10. February 3. Today. Tomorrow. Every day. Because every day should be a suicide prevention day.

Note: If you or anyone you know is feeling suicidal or struggling with depression, please reach out. You are not alone. You are important. You are loved. Christine, the author of this Spotlight piece, is currently in the hospital as I'm publishing this, so let's all send her some love and support. xo S

Elizabeth’s Story: Girl In Purple

I don’t know where to begin or what to say. First off, I am Elizabeth Milstead, the founder and CEO of Girls in Purple Company. I started the company when I was fourteen years old in hopes to raise awareness for other chronic illness fighters across the world. When I was fourteen, because of the pains I had in my hands, I could barely write or function with them. In an attempt to help others and make my hands grow stronger, I started to make my own jewelry and sell it. Soon Girls in Purple blossomed and has grown over the past year or so in so many ways. My company isn’t just a jewelry company. It is a community of chronic illness fighters and human beings fighting through the daily struggles life throws at us. The motto of Girls in Purple is “Life is a beautiful gift” which is so true!! If anything I’ve learned from chronic illness is that to never take ANYTHING for granted and to always be thankful for the good and bad days. Girls in Purple now has a team of 5+ interns, 35,000 + followers on Instagram, and a community of chronic illness fighters that unite through the darkest times in life. We should never be alone in this fight because WE MATTER. We matter and have a purpose. I know it’s tough. I know it isn’t easy but if we unite together we can beat our chronic illnesses once and for all.

I am technically an undiagnosed chronic illness fighter. Doctors say I will never know what my illness is because I’ve been sick for so long. I have been sick for almost three years now and am the age sixteen almost seventeen. Doctors know though that I struggle with chronic pain and fatigue which is why I advocate both of those in my business. After these path couple months of debilitating struggle, I came to the realization one morning I wanted more. I wanted to raise even more awareness and felt as if I was being called by God to make a difference. I am so happy to share with all of you that my business Girls in Purple is expanding into a print magazine. I am absolutely in awe over all the support I’ve gotten and cannot wait for this print magazine to come out. YOUR story matters so share it. Help make a difference with me. If we join hands together, we can beat our chronic illnesses. We can beat the pain and suffering we go through every day. There is light at the end of the tunnel my friends, I believe it and so should you. Help me create something beautiful. I am blessed to have Shira from Sick Chicks helping me spread awareness. She is going to share her story and her organization in the first issue of the magazine. Don’t hesitate to reach out to me to be apart of this. Don’t hesitate to share your story because your story deserves to be told. You deserve everything loves. You really do.

I love you fellow spoonies and chronic illness fighters from the bottom of my heart.

xx, Elizabeth Milstead, @elizabethmilstead on Instagram 

#CuresNow by the People, for the People

This Spotlight post was written by Lisa Schill of The RASopathies Network

In those first few moments of his life, I knew something was wrong. I only had a moment to touch him before he was whisked away to the NICU. After a year and a half, we finally had a diagnosis. A RASopathy called Noonan Syndrome. No treatment. No cure.

I am a mother. My main goal in life is to make sure my children are healthy and happy. But what if you can’t keep them healthy? What if you don’t have the band-aids to fix their boo-boos? You dedicate your life to finding them.

Max working on finding cures

21st Century Cures was written by the people, for the people. It is legislation that will help reform the process of drug development by delivering treatments and cures to more families, safely and efficiently. An innovative bipartisan bill that was created after a year of discussions with patients, caregivers, researchers, physicians, and industry - ALL the stakeholders. Everyone in America had the opportunity to share their thoughts, feelings and concerns regarding how to ensure more treatments and cures could make it to the people who need them the most. One of the finest examples of our democratic process at work. It passed the Energy and Commerce Committee unanimously and passed the House by an overwhelming majority.

What does the bill include? It includes more funding for the NIH and FDA, which is desperately needed. It encourages that the patient perspective is at the core of all aspects of the drug development process. The cherry on top – the OPEN ACT. The OPEN ACT was included in the House version of the bill, but separated in the Senate version. The OPEN ACT has the potential to double the number of treatments for rare disease patients.

Just as our forefathers fought for democracy on the Freedom Trail, we are fighting for the health of every American. Everyone will eventually be a patient one day.

When your time comes, are you going to want more and better band-aids in the medicine cabinet?

Senate, we are calling on you to answer the needs of your constituents. The time is NOW for #CuresNOW. Every day, week, or month we wait to pass 21st Century Cures and the OPEN ACT are precious moments lost. Moments celebrating babies first steps, another candle in a cake, or a kiss confirming vows. Moments that should not be taken for granted.

Senate, please help us pass 21st Century Cures and the OPEN ACT today. The longer we wait, the more lives we lose. This legislation is an opportunity to create meaningful change for people that we all know and love. Make it a point to make a difference in their lives and many others with a yes vote when the Cures and OPEN bills come to the floor in September. We need your support. #CuresNOW

Finding Myself Advocating for #CuresNow - Sharon Nissley

This Spotlight Post is written by Sharon Nissley - founder of KFS Freedom - and was originally posted on The Mighty

Rare disease has changed my life in many ways, but the most unexpected recent change has been my interest in laws and political issues regarding health care and treatment options.

You see, I am a right brainer.  I enjoy and flourish in the arts. I've never jumped for joy while taking a math or science class. I can recall looking up medical terminology after diagnosis's, and subsequent MRI or test reports years ago, and how strange learning about medicine was for me. I was in a new arena and out of my comfort zone. However,  I realized that in order to advocate for my care, it was a necessary step, and I was finding it interesting! I was being forced to expand in ways I had never imagined. Being creative had always been my focus whether in study, or for fun.  But more recently, as a patient and advocate,  I've experienced another surprising shift in interests.

Why, you ask?  Because for the past 6+ years I've been relentlessly and urgently seeking treatments as a patient, for the following rare diseases: Klippel-Feil syndrome, Cervical Dystonia, Ehlers-Danlos syndrome, and Vasculitis.  Time and time again, I have found little understanding or relief.  I've traveled to 5 states seeking care.  Yes, there are a few great doctors out there. Great doctors who have limited time, limited accurate information, and limited treatment and medication options to offer me as a patient dealing with such an odd laundry list of rare conditions.

I've been at a personal stand-still regarding my care for well over a year.  After putting down the paint brushes to focus on MRI reports and the like, I have come to a dead end regarding what might help the chronic debilitating pain and muscle spasms that send a constant911 signal throughout my body. I know I am not alone in this - care options for those with rare conditions are extremely limited. Complaining about it, and doing nothing will get us nowhere.  However, for myself and others in the rare disease community and beyond, there is something we can do to help ourselves! 

You see, there is a bill, the 21st Century Cures Act H.R. 6,  that is critical for the improvement of care for Americans as a whole, but namely for rare disease patients who are so in need. In July 2015 the bill passed the House. This fall, when summer recess ends, we need the Senate to pass this bill, for it to move forward. This bill needs to be implemented and we are running out of time!  

I've been preparing to meet with my legislatures personally, to urge them to help pass this bill now. Gulp. I'm completely out of my comfort zone! 

The idea of walking into a government office makes me so nervous, but so does a future without proper health care for the conditions I face daily. 

I've literally had to brush up on how a bill becomes a law, think "I'm Just a Bill"  style!  Just like I had with every unknown medical term on MRI reports, I've looked up some unknown government and political terms, to understand the process.  After learning more about this bill, which includes the Open Act HR 971/S 1421,  and funding for the NIH and FDA, we can't let this valuable path to cures pass us by!  Dare I say, I am passionate about the importance of supporting this bill - right now!  

The 21st Century Cures Act will expand treatment options for all of us, not just those who have a rare disease.  I am asking you to please join myself and others. Send your Senators and Representatives an email. Hop on twitter and tweet to Congress using hashtags like #CuresNow, #OPENact, and #Path2Cures! Not sure who your federal representatives are? Click here. Speak up, call, write, or set up a meeting, because it really is up to us, and we cannot afford to wait. 

Of the 7000 rare diseases, that affect 30 million Americans, only 5% of rare diseases have an FDA approved treatment. The 21st Century Cures Act  has been developed to help us, but it needs our support now! Heck, if I can, you can!  Not to mention, new treatment options would allow me to feel well enough to get back to other passions!   Together we are powerful.   

You can follow Sharon through her organization Klieppel Feil Syndrome Freedom and on her personal Twitter

We Need #CuresNow and #OPENAct - Kylene Boka

I usually do my best to stay out of politics, but every so often something comes up that I can't let go by. And right now, one of those somethings is makings its ways through Congress. The 21st Century Cures Act has been passed by the House and will up for consideration in the Senate in September. This has the potential to be a game-changer when it comes to health legislation.

The 21st Century Cures Act will put into practice new legislation and infrastructure to continue funding medical research focused on discovering treatments and cures. Institutes, such as the National Institutes of Health, that are dedicated to being on the forefront of research and medical advancement cannot function without funding. This act will help guarantee funding for these research facilities that place a huge role in why the USA is where the world comes for treatment. This act does not specifically fund rare disease research, but provides general funding for healthcare and biomedical science to guarantee the resources needed for researchers to continue making advances in this field and discovering new breakthroughs.

Is there anyone who hasn't known someone with cancer? What about Alzheimer's or Parkinson's or diabetes? The 21st Century Cures Act even addresses new issues, such as the Zika virus, to provide funding that allows researchers to stay at the forefront of what is happening in the medical field and to keep working to find better treatments, and eventually cures. Health can change so quickly...this might not seem like it is relevant for you today, but I can tell you that I never expected it to matter to me either. In 2, 5, 10 years when someone you know is facing a tough diagnosis, you will want to know that you have hope for treatment and maybe even a cure thanks to the 21st Century Cures Act.

So I hope you see why this is important. But for me, it goes one step further.

The OPEN Act is also up for consideration. This specifically targets rare diseases and the ways they are treated and managed. This act provides incentives to large pharmaceutical companies to allow for off-label use of currently on-label medications to treat rare diseases with no currently approved treatment options. 

In English, that means that patients living with a rare disease that has no FDA approved treatments, may get approval to use medications already on the market for other conditions. Many times medications that are FDA approved for certain issues can also work for other conditions even if they are not specifically approved for them. 

It may seem complicated, and again, not relevant, but remember that 1 in 10 Americans are living with a rare disease. You probably know more people than you think who are living with one of 7000 identified rare diseases. Out of these, 95% have ZERO FDA approved treatment options. Mast cell disease is a part of that 95%.

Yes, there are medications that we can take to manage symptoms. HOWEVER, because nothing is specifically FDA approved for mast cell disease it can either be incredibly expensive because it is denied by insurance (which usually means it isn't really an option because what rare disease patient has thousands of dollars just lying around) or if it does happen to get approved, it takes months/years to get that approval. In the mean time, we're left trying to figure things out for ourselves and wondering how much long until we're out of options. 

The OPEN Act would give rare disease patients another lifeline when nothing is working. Instead of being told that the only available options have been exhausted and there is nothing left, there is at least the hope that maybe there is still something that could help. It might not provide cures, but it at least gives the potential of treatment to give more time until cures are found. 

I am thankful that right now in the treatment of my mast cell disease, we still have things to try. We are making progress with the Xolair (which took 5 months to get approval) and getting better at tweaking my medications to continue improving my symptoms. But it's not perfect, and there are days when I feel like nothing is working...and I wonder what could happen if I were to get to the end of what is currently available. I have friends who are there now. 

Friends who are faced with the choice of anaphylaxis from IV nutrition or anaphylaxis from tube feeds...Friends who react to the only medications available to manage their symptoms because they have been stuck waiting for insurance approvals for 7 months...Friends unable to get any treatments beyond over the counter medications because insurance won't approve anything for a condition they don't have codes for...and billing codes for mast cell diseases won't be available until October 2016...

It's crunch time. Not just for those of us with rare diseases waiting for access to treatments and insurance approvals. It's crunch time for the 21st Century Cures Act and the OPEN Act. Please help raise awareness for the need for medical research to benefit all healthcare as well as provisions to allow additional options for rare disease patients. We have the month of August to get the word out. 

We need #CuresNow! The #OPENAct matters because we understand that medical advances don't happen overnight and finding a cure doesn't mean anything if the patients who need it can't get treatment now.

This Spotlight post was written by Kylene Boka and originally posted on "Maintenance Required" 

Why I Support #CuresNow - Stephanie Fischer

When I was 29 and seemingly healthy, I had a stroke caused by a rare disease I hadn't known I had. I was fortunate to fully recover after a few weeks of physical therapy and months of speech therapy. I've taken several different blood thinners off-label to prevent another stroke.

I support the 21st Century Cures initiative because it would be truly transformative to our biomedical enterprise. U.S. regulations have not kept up with scientific advances, and change is desperately needed to accelerate the discovery, development and delivery of new treatments to patients.

The House Energy and Commerce Committee spent more than a year soliciting feedback from researchers, patients, physicians, leaders of the Food and Drug Administration (FDA) and National Institutes of Health (NIH), and other stakeholders to identify what improvements to the research and development ecosystem could have the greatest impact for patients. The legislation was considered by the Committee and then received broad bipartisan support when it passed the U.S. House of Representatives by a vote of 344-77 last July. 

Despite this widespread support in the House, and by the more than 700 advocacy organizations that signed on to support 21st Century Cures, the U.S. Senate has not yet voted on the bill.

Time for Congress to act is running out. And time is running out for patients who need new treatments. Please call your Senators to urge them to support #CuresNow and the OPEN ACT (HR 971/ S 1421), which would provide an incentive to encourage biopharmaceutical companies to repurpose medicines for rare diseases (resulting in more FDA-approved treatments for patients).

InvisiYouth

I often get asked, “How did you come up with InvisiYouth? The idea of helping teenagers in pediatric hospitals—while needed—is so specific so, how did you think of it?”  The answer to it is simple, when I was a teenager, I used to be one of these teens dealing with chronic illness in pediatric settings.  Way back when I was a 15 years old, with a typical teenage invincible attitude, I spent all of my time either on the tennis court or in the library writing my latest short story. For over eight years, I was a competitive tennis player and used every opportunity I had to practice more and more, no matter how sore my body might have been.  At one early morning practice, my life would change forever.

While doing some basic ground strokes with my coach, I kept feeling this burning pain throbbing into my left dominant hand and when I tried to switch my grip to alleviate the soreness, I made one wrong hit, my thumb popped and immediate bone-crushing pain ensued. Flash forward a week, and my hand looked anything but normal.

Swollen four times the size and bruised to the deepest shade of blue, my hand looked horrendous but, the pain was even worse.  To put it briefly, it felt like I was being whipped with barbed wire while being lit on fire within the confines of my hand.  None of my doctors knew what was happening and finally one pediatric orthopedic said I might have Reflex Sympathetic Dystrophy (RSD).  In a nutshell, RSD is a neurovascular condition that results from an injury to your nervous system. Pain from an original injury gets damaged and changes into an abnormal neurovascular condition which causes a cycle of intense pain and injury to the affected area; your body is continuing to respond to an injury that does not exist any longer. 

For the next two years I was referred to countless doctors, from rheumatologists to cardiologists, neurologists and hematologists but no one could treat my condition correctly. They would all say that I definitely had RSD but my symptoms were so abnormal and unresponsive to physical therapy (the only known-successful form of treatment) so they believed something else had to be medically-wrong.  That reason alone led me on the wild goose chase for an answer.  Growing through my teen years with this health problem, all teenage drama tends to be heightened, obstacles are less about the latest social media trends or hallway gossip and more about when your next physical therapy session was or which doctors appointment I had to schedule between class, which often meant missing school, clubs, and seeing my friends.

My life seemed to be going along parallel to my friends, both moving in the same direction, but taking two completely different paths that never intersected.  While my friends were planning their lavish Sweet 16 parties, I was lying on a hospital bed having an unsuccessful nerve block. And while I was spending my summer in recovery from my spinal correction and fusion surgery, they were off visiting colleges or lounging at the pool. Needless to say, life was different for me, and it would take years before any treatment would pay off.  The entire second half of my teens was spent dedicated to my health condition and trying to resolve the problem that at times, felt like no one had the exact answer.

Sure, when people see me now, they see a normal, healthy young woman in her twenties but, they really don’t understand that underneath it all, they are missing a big part of my past that makes me who I am.  A part from my teens when the notion of “healthy” and “normal” were never even considered as verbs to describe me.  And while yes, I still deal with residual RSD and perpetually feel bruised on the left side of my body with the occasional flare-ups thanks to cold weather or the unfortunate stumble with my left limbs, it has become my new normal.  I don’t need people to pity any part of my life because I am so grateful for every day that I have, good or not.  Dealing with a chronic illness in my past has opened my eyes to being beyond grateful and happy about life, to find the humor in even the worse situations, and to live my life the way I dream for it to be. 

It was almost three years ago when I first came up with the idea of InvisiYouth Charity.  I had spent so much of my teen years in over 31 pediatric doctors’ offices, facilities and hospitals but the one singular trait through majority of them was that as a teen, I never felt represented.  More that I was misrepresented in every way as a teenager in pediatrics. Either doctors treated me like an adult and ignored my parents, barely explaining anything in a way I could understand, or I was treated like a child where the doctor would only talk to my parents as if I wasn’t in the room.  I was surrounded with pain charts that had smiley faces (which I needed to point to when asked my pain level—usually it was the face with the sad expression and one tear coming from its eye).  Or I would need to listen to jokes and put on hospital gowns with teddy bears or circus animals, nothing ever appealing to my growing fashion sense that would have made me a little more comfortable in the situation.  Nothing about my pediatric experience allowed me to feel like a teenager but rather, I felt like I was caught in this gap, this invisible section of pediatric settings, that didn’t exactly know what to do with my teenager mentality and lifestyle. 

This feeling of never having a voice in my health began to set a fire inside me, a passion to make a change to this community. And it wasn’t just me…constantly I was hearing from other teens who were still going to their pediatric doctors or had chronic health conditions making the same claim: Why is there no place for teenagers in pediatrics? How can we learn to deal with pediatrics as a teen, and for clinicians to learn how to interact with us? Where is our voice?

That is why InvisiYouth Charity was born.  Teens are a unique group and they need to be helped as such.  That’s what InvisiYouth is all about—Helping teens in pediatrics find their own voice.

Follow us on Twitter (www.twitter.com/invisiyouth) Instagram (www.instagram.com/invisiyouth) and Facebook (www.facebook.com/invisiyouth) 

When Depression Is Like Being Locked Up In A Tower

Imagine, if you will, a faraway land in which the darkness rules and the sun never shines. 

In that land is a tower so tall, you can see it wherever you are. Inside that tower is a girl, as young as 12. She’s not alone in the top of the tower, for there are many demons chasing her. Telling her she’s worthless, that she’s a waste of space and oxygen, that it’s ridiculous to even try to do anything, that her friends and family have abandoned her, that she will never amount to anything and that her entire life before darkness overtook her home was a naive lie.

The demons have locked her in this castle and refuse to allow her to leave. Once upon a time, before she became locked in the castle, she had a wonderful life, filled with friends and sunshine. That was before the darkness overtook her home. Now, she spends every day locked in the tower, and has been there many years. No knight is coming to rescue her, for no one even knows she’s in the tower, as the demons have prohibited it. She’s tried to contact help from a small phone in secret, but the connection was bad and she was misunderstood. She sometimes wonders if she would just be better off dead.

Now, let’s change it up a bit: that little girl could be you. Because that is what it feels like to someone who’s been caught by depression — they feel just like that girl. Depression has locked every door in their minds that looks open, and a lot of them are petrified of asking for help. Even for the ones that do, they are often misunderstood and don’t get the help they need. They feel completely overpowered by it and it can seem completely hopeless.

If you know someone struggling with depression, please listen to what they tell you. Most of the time people cry out for help. Listen to that. Remind them there’s always help available. Help them get support when they’re not up to it themselves. Don’t judge them for how they feel. They can’t control it. Make sure they know people are there for them and that they are loved. Without realizing it, you might just save their life.

This Spotlight post was originally posted on The Mighty and was written by Christa T. She is an avid writer, enjoys reading, horseback riding, and spending time with friends. She has multiple chronic medical conditions and is passionate about reaching out. 

When Silver Linings Are Hard To See

I’m having a rough day. As one of my best friends would call it, an “I wish I weren’t sick” day.

 Most of the time, I think I handle being chronically ill and all the baggage (sometimes literally)  that comes with it fabulously.  After all, what am I supposed to do? When illness is a huge part of your life, you find a way to live with it. I do things while in pain, because if I waited for the pain to subside, I might never leave my bed. I try my hardest to be cheery, even when I feel like crap. Those that love me can generally see right  through my false cheer, and even more on a difficult mental day.
On the “I wish I weren’t sick” days, everything feels a million times harder. It all adds up- pain, nausea, fatigue- like an overdrawn back account you have to pay off sometime. On these days, it’s really hard to hold it all together.
It’s okay to not be strong all the time. It’s okay to spend a day doing nothing, or doing nothing but calming things. We spend so much time taking care of our bodies, I think sometimes we forget that we also have to take care of our minds. So if you’re having an “I wish I weren’t…” day, practice some self-care. Take a bath, watch a funny movie, put on fancy makeup just for the heck of it. Don’t think you have to focus on the silver linings and the collateral positives one hundred percent of the time- being positive all the time is impossible, especially when you don’t feel positive.

And if your new “normal” feels not so normal at all, remember that you are not alone. And remember that things do get better.

This spotlight article was written by Savannah Orth; a student, activist, writer, and avid follower of superheroes. The original post can be found at her personal blog, Actual Mutant. 

5 Bills That can Save A Child’s Life (or Your Own) and Two Things That May Kill You

I recently spent a week in Washington DC representing Myasthenia Gravis, an autoimmune disease I have, for Rare Disease Week (yes, that’s a thing). I was also lobbying Congress on upcoming healthcare bills as a patient advocate. The state of healthcare is very exciting on the Hill right now, and the bipartisan support many bills are receiving is helping them pass quickly.  Unfortunately, this is also a very political year which means many won’t make it thought just because it’s a very political year. 

You can truly make a difference in your own life and health, and I will show you how later.  It’s really easy.  Just a couple of clicks and you are done.

Here are some down and dirty statistics you may find surprising.  There are currently over 7000 rare diseases recorded and over 30 million people in America currently have one. That’s a lot of people which makes rare diseases not so rare.  50% of those with one are children who won’t live to the age of six. Unfortunately, only 5% of all rare diseases have a treatment protocol.  One of the reasons for this is because it cost almost a billion dollars to bring a new drug through clinical trial.  Only about 12%  make it all the way through the process so developing a drug for a small population isn’t cost effective to pharmaceutical companies.

Now for the good news…Sort of

In July of 2015, the House of Representatives passed the 21st Century Cures Act by a wide bipartisan margin (344-77).  Among other things, this bill gives new funding to the NIH and FDA, allows for the repurposing of already researched, existing drugs for rare diseases since most use off label drugs anyway since they have none of their own.  It also advances research for neurological diseases, and refocuses drug development on the patient.  This Act has the potential to speed up treatments by decades.  Then it stalled in the Senate.

Here’s the part that could kill you:

Part 1:

The Senate started picking the 21st Century CuresAct apart, scheduling three different hearings at various times to pass individual provisions and bills. Speculation is that they don’t want to see it passed under President Obama’s term so they are slowing it down. Sadly, Congress only meets for 10 days in March and has all of August and October off.  At the rate of their attendance, countless people will have died because our legislature is on vacation.

Part 2

We can either get involved in our own healthcare, or risk dying by lack of attention.  It’s that important. From what I’ve heard from Congressmen, staffers, and other advocates, those regulating our lives in Washington really do listen.  I personally spoke with my local Congressman regarding two bills I am deeply connected with and as a result, he cosponsored both giving them a boost in credibility and making them one step closer to becoming a law.  So did my Senators.

It’s time to make ourselves heard.

Some of the components in the 21st Century Cares Act, have been pulled out as stand alone bills to get them passed quicker.  Although they aren’t as strong as the entire Act, they still have merit and are worth our involvement. Unfortunately, they can easily disappear if we don’t help them get pushed forward. There are 8,863 bills currently under review.  It’s easy for them to get lost in the shuffle. If you want to support any of the bills below, you are just a click away from having a major impact. I made it even easier by giving you the links to find your legislator and send a letter (some are pre-filled) for each bill. You can also click on their links to get more information about them.

These bills are currently under review in the Senate:

• Family Caregivers Act (HR 3099) – Maximizes childhood cancer survivors’ quality of life, moves childhood cancer research forward and helps kids get access to life-saving treatments. To send a letter of support for this bill to your Congressman CLICK HERE
• The Advancing Hope Act (S1878) – amends the Federal Food, Drug, and Cosmetic Act to expand the priority review voucher program for rare pediatric diseases and includes treatment for pediatric cancers.  CLICK HERE to support this bill
• The Open Act (S.1421) – extends by six months the exclusivity period for a drug or biological product approved by the Food and Drug Administration (FDA) when the product is additionally approved to prevent, diagnose, or treat a rare or orphan disease.  To send support of this bill to your Senator CLICK HERE

• Medicare Home Infusion Site Act (S275) – will allow Medicare patients to receive ongoing infusions at home instead of the hospital.  This is at a $93 million savings to taxpayers and also prevents infection exposure in the patient . To send a letter CLICK HERE

• Childhood Cancer STAR Act(S1883, HR 3381) – accelerates development and availability, of promising childhood cancer treatments. To send a letter CLICK HERE

Congressional staffers count the letters received and report back to their members on a daily basis. The more they get, the more they pay attention.  Get their attention now.

You made it!  See I told you it wasn’t that bad.

For those who choose to make a difference in there world and sent a letter, I would love to hear how it went and who you sent one to.  I’ll bake some cookies in your honor as a thank you.

 

About the Author

Lisa Douthit is the author of Amazon’s #1 bestselling book, Wellness Warrior – Fighting for Life in Fabulous Shoes and an Integrative Health Consultant who is passionate about healing from all perspectives. After struggling with multiple bouts of cancer and autoimmune disease, no one understands the physical, spiritual, and emotional rollercoaster better than she does. As one of the 40 million American women currently suffering with an autoimmune disease, she made it her mission to have a voice for all those with an invisible illness, and prove you can be well without perfect health. She has a private Facebook Group called Wellness Warrior Tribe for all those with chronic illness looking for support and encouragement.  For more out of the box thinking that is guaranteed to bring you joy, Like her FaceBook Page Here or join the tribe Here.

Withdrawal

Withdrawal: Searing pain. Drenched in sweat with involuntary shaking because you are so cold. Yet there is no fever. Your pulse races. Your vision blurs. Everytime you stand, you risk falling because you're too weak and too dizzy. Your brain feels fuzzy. It's hard to think because you are so overwhelmed. Your brain screams at you from the squeezing pain. You see things, hear things. Maybe not every time or all the time, but even one time makes that always set in the back of your mind. The nausea overwhelms you. You're doomed whether you eat or stay away from food. Then the effects of not having that specific medication on board set in. For antidepressant withdrawal, you get the emotional mess of not having medication to balance out your mood. You go from angry to happy to a crying mess. Your blood pressure goes up and most of the time you end up in the ER. Doctors see this all the time yet still allow people to go through it. They cut off meds, change them too quickly, mess up the weaning process, and don't even bother to make sureyour calls get through to them.  That is the reality of withdrawal. Not all people who go through withdrawal are addicts. Some of them are people just like me.

This post was written by Gabriela Baker, you can follow this journey on Instagram - @thosespooniestories

Xoxo, Wheelchair Girl

Hi! My name is Sara, I'm 17, and I got sick 7 years ago. I met "Sick Chick" about four years ago back when we both lived in California, we instantly became good friends. I now live in North Carolina and am getting treatment at Duke, which I love. I have Postural Orthostatic Tachycardia Syndrome (POTS), Ehlers Danlos Syndrome (EDS), Gastroparesis, Platelet Storage Pooling Deficiency, Mast Cell Activation Disorder (MCAD), and many more diagnoses. 

Since junior high I haven't been able to go to school. Not being able to go school has been hard. I have lost a lot of friendships, but I do have great “Potsie” friends who understand me and are always there for me. It's just hard not to experience the high school things that I should be doing ,you know? Like dances, boys, driving, ect...

I've actually met some great friends since moving to North Carolina. And they don't seem to forget about me when I cant follow through with plans. They come visit me and they invite me to their high school events. I feel like I'm part of a high school group for once. Even though it's hard because I can't participate sometimes because I’m too sick, or they are doing something that my body just can't do, I know that they will be there for me the next time. 

It's crazy to think that soon I will be 18 and "normally" would be going off to college. But, I have a lot of credits to finish because I’ve missed so much school. All my friends are counting down the days until they graduate. I'm counting down the days until my next bag of saline. It's going to be hard to stay at home while everyone goes to college, but it is what I have to do. Sometimes plans change. Maybe I can go to college next year, who knows?

Sometimes I miss my old healthy self, sometimes I don't. I mean, yeah sure, I miss being healthy and full of energy and all that crap. But I wouldn't change any of this. I am lucky as heck to have met so many people along my journey. Even through the bad stuff there is good. We can always find good.

Us Sick Chicks are fighters. 

-Sara

You can follow this journey at “Saras daily Journey”

As Ellie: A New Chapter

Not knowing why my body was failing me was one of the most trying experiences I’ve ever experienced. I questioned everything. And everyone questioned me. I would stay up at night and wonder if I did this to myself somehow. I would question if my pain was really real. Doctors would write me off as anxious and emotional. My friends began to fall away, thinking I was faking. For years, I lived in this world of invalidation and defeasance and dissolution. My body was failing me, I knew that, but I didn’t know why and without a cause there’s not much to help.

For the first time in years, I feel a wave of relief wash over me. For the first time in years, doctors aren’t writing me off. This week for the first time a doctor told me “your pain is real and we can do something about it.” For the first time since I became ill, I have a name for the thing that broke my body. Ehlers-Danlos Syndrome.

What a strange feeling it is to be happy about a medical diagnosis. Especially one with no cure. But boy, am I happy and relieved and at ease. How I see it is, with this diagnosis I wasn’t given all my symptoms, I already have those, now I just have a name for them. It also didn’t bring a cure or really much treatment but it brought closure.

After years of searching, we have answers and answers are so valuable.

I’m not saying I’ll never run into people questioning me again, that’s simply inevitable but I can stop questioning myself.

This whole battle of not knowing wore me down, it wore my spirit down. Now I’m ready to start the next chapter. A chapter of validation.

This Spotlight post was written by Ellie from The Superhero Project and As Ellie

Cimorelli: Up At Night

One of the highlights for me of the Global Genes Gala in September was seeing Cimorelli perform! I loved it so much that my friend and I got tickets to see their concert again a few weeks later. Since the concert Amy and I have been talking about everything from the struggles of unrequited love (that girl should be me...) to the gift Chris Pratt is on "Parks and Rec". The girls in Cimorelli are so genuine, funny, and sweet! Also, they have a strong connection to this "rare world". 

Their first full length album is now available to pre-order! It'll keep you Up At Night, trust me. Check it out along with other awesome packages here. I've ordered my CD, and I can't wait for it to come in March - right in time for my birthday! Some of their other packages include posters, signed polaroids, and even the chance to write a song with them in person or over Skype! How cool is that?!

So, I know attached the link already, but here it is again, because seriously, you have to check this out. It's totally worth it! I just know you'll love Cimorelli as much as I do. 

Be sure to let me know when you pre-order your CD!

Xoxo, 

Sick Chick 

Only The Cool Kids Have Tubes

Think about how many times today you went into the kitchen to grab a snack, or went out in public and saw a billboard centered around food, or watched a commercial advertising a new fast food joint. We have restaurants and shops and grocery stores every time you turn your head. Can you think of a holiday that doesn't involve some kind of food? Now imagine that you couldn’t eat any of it.

This week, February 7-13, is Feeding Tube Awareness Week.

What is a feeding tube, you may ask, and why do we need an awareness week for it? Well, it's a tube that feeds someone. There's different types and many, many different reasons for needing one, but the concept remains the same: it is a means of providing nutrition when someone, for whatever reason, cannot eat.

Let’s go to lunch. Why don’t we go out to eat? Can you come over for dinner? Normal phrases, but for those of us who can’t eat, they are difficult. I can eat small amounts of food on good days now, but many people can’t, and will never be able to. Can you imagine never eating your favorite food again?

I have one. And it's saved my life. I have a condition called gastroparesis, where my stomach does not process food correctly.  Essentially, my body doesn't allow me to get the nutrition I need, because it doesn't absorb it. My specific tube uses a special  kind of formula (easy to digest) and bypasses the stomach entirely. Handy, right?

A feeding tube allows me, and many others, to live and to thrive. It is what gives me the energy to go to school, to go the beach, to live a life that is independent of my chronic illness.

-Savannah

Some fantastic resources about feeding tubes include:

The Oley Foundation

The Feeding Tube Awareness Foundation

If you are the friend or relative of someone with a tube, are facing the possibility of getting a tube yourself, and would like to ask any questions, my personal email is bebravemydear@gmail.com.

Kayla's Story

Hi, my name is Kayla and I’m 12 years old. I met “Sick Chick” because we have the same primary care doctor, and she asked me to do a post for her website. Here’s a little bit more about me! I’m from Northern California. I love volleyball, school, and hanging out with my friends. I have Systemic Mastocytosis, Ehlers-Danlos Syndrome (EDS), Common Variable Immunodeficiency (CVID), Exercise Induced Anaphylaxis, Severe Food Allergies, as well as multiple other diagnoses, but these are my main ones.

I’ve realized that being a “normal” middle schooler with these diagnoses is really hard. 95% of my friends have NO idea that I’m chronically ill. The reason they don’t know is simple – I don’t want to be pitied or looked at differently. Hollywood has created this “sick kid” image where unless you have oxygen, a wheelchair, a PICCLine/Port, etc. you’re not sick… false!! I mean, yes some people have that, but others don’t. I may not “look” sick to society, but inside my body is constantly fighting itself. I am always in pain. One of the most hurtful things someone can say is, “You don’t look sick.” It’s like, “Thanks for the lovely reminder that I’m sick, but you just can’t see it!”

I have done my best to keep it a secret, but people are curious and ask a lot of questions. Like in my new school. I missed 33 days of school and started half way though. After about a month people got annoyed that I wouldn’t tell them. A girl actually followed me around for a whole day asking me “Why?” repeatedly. I swear, I was about to punch her. Some may not realize how hard it is to share something so personal. And then there are those impossible days where you just can’t do it anymore. For example, I was at school and it was towards the end of the year. I was told the week before that if I didn’t start eating I would have to get a feeding tube. At this time only three people knew about the medical side of me. We were at lunch and I was sitting with my friend, “L”, and I just broke down. I was crying, I said I was scared about the feeding tube, and that I probably wouldn’t be able to come to school. Then there was my other friend “J” who had no idea why I was crying. That day was hard. In the end though I have no feeding tube, I have a PICCLine instead.

I sometimes wish I didn’t have this life, but then I realize that I wouldn’t be who I am without it. Most people who aren’t sick think the person is made up of the illness, but that’s not true. Yes, we have the illness and yes, it has built us into who we are today, but we are not made of the illness, the illness is a part of us. Just like if you play a sport, that sport is just a part of you. Every chronically ill kid has better days than others, but I believe in living for the day. Don’t worry about tomorrow. That may sound pretty cheesy, but it’s true.

~ Kayla 

Team Taylor: Rare Disease Video

Hey everyone! 

For Rare Disease Day 2016 I am creating a video to help the cause of bringing awareness. My goal is to have spoonies and non spoonies along with pictures and facts in this video. I want to show the good and bad of these rare diseases that we have to battle each day. 

Those who are not spoonies can be part of this video by sending in pictures of them holding signs with encouraging words for those who battle each and everyday. 

For the spoonies, there are two options you can choose from. You can choose whichever you feel most comfortable with. 

       Option #1: Send in a picture of you holding a sign with words to describe your battle. Example: I am a fighter / I am not my disease / Warrior / etc. 

        Option #2: Another part of my video is a special feature portion. For this portion you can either submit a short video clip or a few photos of daily life with a rare disease. 

Along with your submission of either photos or a video clip, if you could send me your name / age / and names of your disease(s) that would be great. For each disease that I have a representation for I will be adding in 2-4 facts. For diseases that I don't have photos for will most likely receive 1-2 facts depending on how many submissions I get. 

Thanks in advance for helping me with this video. 

-Taylor N. 

P.S.

Here is my contact info if you have any questions 

Personal Facebook: Taylor Nearon

Email: teamtayloragainstmcad@gmail.com

Instagram: taylorrr_nearonn