Share Your Rare: Rare Disease Day 2019

Hi all! It’s Rare Disease Day! A day where the rare disease community gathers and shares their stories, raises awareness, and maybe even paints their faces! I’ve gathered some answers from five of my rare disease friends. They all have very different diseases, but all require, or have required, TPN currently or at some point along their journey.

I’m excited to share a little snapshot into their lives, so let’s get to it!

22

Q: What is your rare disease?

A: A myriad of multiple complex chronic illnesses involving Ehlers Danlos Syndrome (TNXB mutation), Factor V deficiency, autoimmune and connective tissue disease, Chronic Intestinal Pseudo Obstruction, and Gastroparesis.

Q: Can you give us a super short description of what this disease is?

A: These diseases impact every organ system in my body. The most severe complications have been periods of intestinal failure due to Chronic Intestinal Pseudo Obstruction; where my intestines do not absorb nutrients and cannot handle fluid or food moving through them. I had to have an ileostomy placed; which means my colon is unhooked and I have a bag where my small intestine empties its contents into. I have a central line where I have received my nutrition and fluids for three years. My joints dislocate frequently, my skin tears easily, and I have struggles with wound healing due to my EDS. I have autonomic dysfunction, which means that my body cannot regulate basic functions such as heart rate, blood pressure, temperature, and more.

Q: It is pretty common for a diagnosis to take many years when it comes to rare diseases. How long did it take to get a diagnosis for your disease?

A: I began exhibiting more severe symptoms of my diseases when I was 12. It turned into a medical scavenger hunt, trying to use the clues given from my body to discover answers. I had to travel to multiple medical institutions before I found one that was knowledgeable about what was going on. It has a group dedicated to rare and undiagnosed disease, as well as a gastrointestinal motility center. I was 17 when we established more proper diagnoses of my rare diseases. It took seven years of searching and fighting to find answers. They do not have an all encompassing diagnosis for me, only a myriad of complex chronic disorders and diseases. This is a reason why rare diseases need more research and awareness. There are doctors who want to help you find the answers, do not give up until you find that doctor with the passion and drive to help figure things out together.

Q: How did you feel when you finally got your diagnosis?

A: Receiving  proper diagnoses was bittersweet… it was a relief to finally have answers for the things that mystified so many. It was comforting to know that things could no longer be questioned or denied as actually happening; yet it was heartbreaking to face the new realms of uncertainty. While we still are searching for more answers, we are grateful to know what we have learned so far. The hardest diagnosis has been Chronic Intestinal Pseudo Obstruction, as it can be debilitating for not only my quality of life, but also my ability to simply eat and absorb nutrients. Because they think something autoimmune has been worsening my health, I have been receiving regular high doses of IVIg which has put me out of intestinal failure as of now. It has allowed me to eat for the first time in three years.

Q: Has your rare disease changed your perspective, and if so, how?

A: Receiving a diagnosis of a rare disease was full of unknowns, yet it also fueled our fire even more. It made it clear that my family and I had to continue to fight, raise awareness for other struggling, and be relentless in the pursuit of better days and a longer life. My rare disease may be ravaging my body, yet I try to think it has strengthened my soul. It took its worst turns beginning at the age of 16. Instead of enjoying normal teenage experiences, I was giving it my best to make it through each day. I see this as a blessing… it distracted me from normal worries, and showed me what is most important in my life: family, friends, joy, community, faith, and so much more. My rare disease has inflicted an infinity of harm, but has brought a sense of passion for life that is commonly viewed as rare itself.

Q: If you had any words of advice for someone struggling with the same rare disease, what would they be?

A: To all of the fellow fighters… I want you to know you are never alone. You may feel weak and weary, but that is okay, because you have a community to fall back on. Remember who you are, the passions your soul feels and the things that bring joy to your heart. Chase these things, fight for these things, live for these things. Live life as fully as you can. Together, we can find our peace within the fight, we truly can.

19

Q: What is your rare disease?

A: I have Mitochondrial Disease.

Q: Can you give us a super short description of what this disease is?

A: Mitochondria are in all of your cells except red blood cells. They are responsible for turning food and oxygen into energy. My cells can’t make this conversion correctly.

Q: How did you feel when you got your diagnosis?

A: I was too young to understand it. I just knew I went to the doctor and spent time in the hospital more than anyone I knew.

Q: Has your rare disease changed your perspective, and if so, how?

A: I think I am different. Part of having mito is really hard because I can’t eat and I can’t go to school. I get tired really easily so I don’t get to do a lot of things, but I have also been able to do some really cool things because of mito and meet awesome people.

Q: If you had any words of advice for someone struggling with the same rare disease, what would they be?

A: Find a good group of friends who will be there for you no matter what.

20

Q: What is your rare disease?

A: Total Intestinal Aganglionosis, caused by a random mutation of the RET gene; the condition is also called total intestinal Hirschsprung’s Disease, very few cases of Hirschsprung’s impacts the entire large and small bowel

Q: Can you give us a super short description of what this disease is?

A: Ganglion nerves are responsible for coordinating movement in the intestines. With total intestinal aganglionosis these nerves are absent, and without coordinated movement it is difficult, if not impossible, to properly digest and absorb nutrition through the GI tract. Therefore, IV nutrition is necessary to sustain life.

Q: How did you feel when you got your diagnosis?

A: When we received Zeke’s diagnosis we were absolutely devastated. We were literally given a death sentence. We went through the process of grieving the loss of the life that we wanted for our son.

Q: Has your rare disease changed your perspective, and if so, how?

A: Zeke’s condition has absolutely changed our perspective on life! It made it much easier to identify what was really important to us in life, and it continues to inspire us to purge toxic mindsets and relationships from our lives. Every time Zeke has a rough day I’m reminded that there are no guarantees in life – tomorrow may come or it may not – and somehow we always have to try to find the balance between living today to the fullest, while preparing and growing for the future. Also, every time we’re in a children’s hospital we’re reminded of two things: 1) It could be worse, so we must always be thankful for what we have and not obsess over what we don’t, and 2) You never know what someone is going through – they might have a sick kid, may have lost a kid or may themselves be sick – so be kind to people and give them the benefit of the doubt.

Q: If you had any words of advice for someone struggling with the same rare disease, what would they be?

A: To another caregiver I would share Emily Kingsley’s short essay Welcome to Holland. This was shared with us shortly after we received Zeke’s diagnosis and I can’t even explain how much it resonated with us – it was just so very spot-on. To another child…I really don’t know what I’d say. I still find it hard to find the right words for Zeke. I don’t want to pity him, but I appreciate the horrendous pain he endures. I don’t want to share words of discouragement, but I also want him to know that it’s okay to rest, to take a break, to say “I can’t right now”. I want him to know that I love every particle of his being, but I hate that he has his condition. I want him to know that I treasure every hug, kiss and sweet moment with him, but I don’t want him to know that I always live with the fear of losing him tomorrow. Often words are too hard to find, so I suppose I’d just give them a hug 😊

23

Q: What is your rare disease?

A: Born with Gastroschisis and then diagnosed with Short Bowel Syndrome 6 days after birth.

Q: Can you give us a super short description of what this disease is?

A: Gastroschisis is a rare congenital disorder were there is defect present in the abdominal wall and the intestines and sometimes other organs, develop on the outside of the body while in utero. In most cases, the intestines and other organs are able to be placed back into the abdomen over a short period of time after birth. In other cases, such as Kyrie’s, the opening where the intestines protrude, can strangulate what is on the outside of the body, causing necrosis/death of the intestine; which then leads to the diagnosis of Short Bowel Syndrome.

Q: How did you feel when you got your diagnosis?

A: The morning of Kyrie’s resection, his surgeon told us that she didn’t know if his stomach was even viable. I’ll never forget telling her that I just want my baby to live. Going into surgery, we didn’t know what the outcome would be. When the surgeon came out and told us they had to remove all but 12cm of his small intestine, we were thrilled that he was alive and here with us.

Q: Has your rare disease changed your perspective, and if so, how?

A: Rare disease has changed our perspective on life in many ways. We quickly had to go from being first time parents, to special needs medical parents of a child with a rare, chronic, life- long disease. We learned we could not plan anything and had to take one day at a time; never knowing what the future will hold. We also learned to never take anything for granted and appreciate and cherish what you have in life, while you have it.

Q: If you had any words of advice for someone struggling with the same rare disease, what would they be?

A: For anyone struggling with Short Bowel Syndrome, you are your best advocate (in our case, as the parent, we are the best advocate for our child). Don’t be afraid to use your voice and speak up for what you believe in, in order to get the best care and what you need to live your best life. While facing such a challenging rare disease, educate yourself as much as you can. Befriend those who are living with the same disease because along your journey you are going to want someone to talk to, and that person will be someone who “gets it”; it can be easy to feel isolated and lonely while living this life and there’s nothing better than knowing you aren’t alone. Stay positive, love hard, hold on to hope, and always have faith.

21

Q: What is your rare disease?

A: My rare disease is Crohn’s Disease. I also have Autoimmune Autonomic Ganglionopathy.

Q: Can you give us a super short description of what this disease is?

A: Crohn’s Disease is one of two Inflammatory Bowel Diseases, or IBD (its sister disease is called Ulcerative Colitis). It is a chronic autoimmune disease, which is code for a confused immune system. Whereas a normal immune system attacks intruders like bacteria and viruses, my immune system confuses the tissue in my own GI tract as bad, and attacks it causing inflammation and ulceration. This leads to symptoms like abdominal pain, malnutrition, fatigue, bleeding, and diarrhea from the ulceration; but also a lot of systemic symptoms you might not expect like fevers, mouth sores, skin issues, eye diseases like uveitis, and joint inflammation.

Q: It is pretty common for a diagnosis to take many years when it comes to rare diseases. How long did it take to get a diagnosis for your disease?

A: I am very thankful that it did not take long for me to get diagnosed with Crohn’s Disease. My mom has Ulcerative Colitis, so when I started experiencing symptoms at 10 years old, she had an experts insight to get the ball rolling. John Hopkins clocks the average time from symptoms starting to diagnosis at about 2-2.5 years. But those numbers are improving, and awareness strengthens the continuation of that improvement!

Q: How did you feel when you finally got your diagnosis?

A: As a 10 year old girl I was not at all to eager to get a diagnosis. And I was certainly not pumped to get a chronic (lifelong) diagnosis that revolved around a lot of uncomfortable bathroom words. I adopted some pretty avoidant coping mechanisms and liked to pretend I was just a normal 10 year old. It’s typically oddly comforting to give heath concerns a name though. When you better understand what’s causing the turmoil, you can better attack it.

Q: Has your rare disease changed your perspective, and if so, how?

A: Absolutely! Whereas I avoided my Crohn’s Diseases existence when I was a kid, I have learned to see it as a gift. It is certainly not a gift I would have asked for. But after walking through years of appointments, surgeries, TPN, infusions, and countless painful days, I have been wildly thankful to learn how to have joy through pain. It has taught me how to more fully enjoy a sunny day when I am well enough to do so. And it has taught me that I can just as fully enjoy the gift of rain, and the astounding way it emphasizes the intricately exquisite colors of creation. In a world that points to success as ultimate, I have learned that pursuing relationships is far more meaningful than pursuing monetary gain or successful positions and titles. And I have discovered that the deep joy that can be found amidst trials is far greater than the empty happiness that lies in easy and pleasant circumstances. I learn more and more every day that good and hard beautifully coexist. Illness has helped me to remove the lens that sees the circumstances of this life as ultimate and adopt a perspective that identifies my true hope. A hope that anchors my soul and positions it in something far more eternal.

Q: If you had any words of advice for someone struggling with the same rare disease, what would they be?

A: Be kind to yourself. You’re probably going to go through some really tough days, but you’re also going to have some amazing one. It’s okay to struggle. Focus on the good. Figure out what’s most important to you and and make that your priority. Get on the same page with your doctor. Being able to ride my bike has been really important to me through some periods where I just couldn’t keep weight on. But my healthcare team has always supported me finding a way to promote my whole holistic health. Find a community that understands. Whether that’s friends, a support group through CCFA, or an online community. Illness can be really isolating if you bottle it all in, but there are tons of people that can help you realize how not alone you are. You’re not alone. And you’re going to come out stronger.

There are some super lovely little nuggets in there, aren’t there? Some of them brought actual tears to my eyes, these humans have a way with words for sure. I am so thankful they felt up to sharing with us! I hope you get out there and show your rare! Check out ways to over at the Rare Disease Day website!

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