To the Experienced Hospital Staff Member Who Couldn't Accept That I'm Rare

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I sit on a hospital bed — vulnerable, shaken by how unwell I became, waiting for your guidance to prevent this medical emergency from happening again. I am an unusual case. Rare. “Interesting” (which I have learned is never good in a medical sense). I have been told after months of medical emergencies that conventional treatments will not work with me, that something drastic will be required. I’ve explained this to you more than once, and we seemed to be getting somewhere, but today when you sit down things are different.

You talk to me as if I am a typical case. You make me feel like I am to blame for any deteriorations in my health and suggest that I must have been giving my injections incorrectly. You ignore my polite and careful reminders that I have tried the things you are suggesting many times before and ended up a little too close to departing the planet as a result. You tell me how long you’ve been working with this particular illness. You take my hope, piece by piece, until I am so desperate not to have to fight this hard for my life again that I find my voice and anxiously tell you I don’t really feel like you are listening to me.

“I am listening, I just refuse to accept what you are saying” is your response. My world crumbles around me. Tears burn in my eyes, but I cannot let you see them. My life is in your hands and you are unwilling to hold on to it. You have only met me three times and yet you refuse to accept that I know anything about my situation. You refuse to treat me as anything other than typical and tell me you have done your part and the outcome is now up to me. I want to crawl under the blankets and disintegrate. I want to give up. I wonder why I bother to speak. I suddenly feel so entirely alone in this, and feel that you are leaving me to die.

The problem is that you have specialized in this illness for as long as I have been alive and you are no longer willing to learn — you have too much experience and think you have seen it all. And when I break down because of your words, you say you are worried about my emotional state, not entertaining the possibility that you could have triggered such a response with your ignorance.

MIGHTY PARTNER RESOURCES

Placing your health in the hands of people you barely know can be a lot more distressing than others imagine. In an emergency or an unplanned hospital admission, reality asks us to rely on complete strangers, and circumstance simultaneously asks us to work with them and fully depend upon them. Well-meaning relatives and other people lucky enough to look at the situation from a viewpoint of near-perfect health often expect us to seamlessly and effortlessly take a leap of faith, not considering that sometimes doctors and nurses do not know what to do, and often belittle our own knowledge and experience with suggestions that doctors know what they are talking about and we should just put our trust in them. They may assume that because we can explain a rare condition in such detail, most medical professionals must share in the same knowledge. The more experienced the staff member, the more ideas they should have, the more likely they are to have seen a case as complex as the one brewing inside of us. But, as you have shown, that is rarely the case. 

Experience can turn into ignorance, and an unnecessary fight to get the correct treatment begins. So many times people say,

“I’ve been doing this job for 20 years…”

“I’ve treated many people with this condition…”

“I haven’t seen anything like this before…”

Staff sometimes go on the defensive, as if the information you are giving them in order to allow them to make a more effective plan of care is a personal insult to their ability to practice medicine. They may refuse to talk to your specialist team because they feel they have the experience to be able to figure you out for themselves, and in doing so expect to make the sort of discoveries that took years of testing and hospital stays to understand. Why?

Please accept that it really is as complicated as it looks. 

Follow this journey on Trying to Get a Life.

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Saying Goodbye 'With Love': A Tribute to Christina Grimmie From the Rare Disease Community

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On Friday, June 10th, Christina Grimmie, age 22, was fatally shot after a concert in Orlando where she was doing a meet-and-greet with fans. Christina was a talented and successful vocal artist, who placed third on the popular television show “The Voice,” and toured with artists such as, Selena Gomez and Rachel Platten. She was also a supporter of the rare disease community and performed at the 2015 Global Genes Tribute to Champions of Hope last year.

In the wake of this senseless act of violence, the rare disease community came together to share their heartfelt tributes and goodbyes to a wonderful artist, advocate and friend who will live on in the hearts and memories of many.

“I first met Christina at the 2015 Global Genes Tribute to Champions of Hope where I was being honored as the 2015 RARE Champion of Hope Teen Advocate. I was so nervous, yet excited and had absolutely no idea what to expect. I began the walk down the blue carpet with cameras flashing in my face and people pulling at me for interviews. I clung to my fellow honoree and friend, Madi Vanstone. I’m sure I looked like a lost puppy or a fish out of water. That’s when I turned and saw Christina walking down the blue carpet, confidently just doing her thing — posing, working the interviews, totally calm and in control.  

After both of us were finished she came over to me and asked if this was my first time ‘doing a carpet,’ I nodded anxiously. She told me not to worry about it, that ‘it [would] probably get easier every time.’ (She didn’t want to over promise.) We then had a nice little chit chat about hair dye and I felt better about everything. This was the moment I knew we would become friends.

That’s just the kind of person Christina was (it’s heartbreaking to go from saying ‘is’ to ‘was’ about a person so lively and spirited). If she saw someone in need of help, she was the first one there. Whether small, like a freak out over a first time ‘doing a carpet,’ or something big like coming to the Global Genes Denim Dash just to be supportive of the cause, without regards to any publicity. I’m lucky I was able to have called Christina a friend and to have known her and her family even for the short time I did. She was so humble, witty and bighearted. Her faith was unshakeable. She will most certainly be missed.” – Shira Strongin, Founder/Activist: Sick Chicks and Chair at We Are More

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Savannah, christina, and shira at the global genes demin dash
Savannah Orth, Christina Grimmie and Shira Strongin at the Global Genes 2nd Annual Denim Dash.

“I never had the pleasure of meeting Christina, but I can tell you that in the rare disease community, she was known for her kindness just as much as her incredible talent. Recently I watched a video of Christina performing at the 2015 Tribute to Champions of Hope in, stating she looked around she saw ‘amazing people that work so hard and keep pushing on to create awareness.’ Through her devotion to the rare community, she truly became one of those people. Christina was one of the first supporters of a project I’m working on called ‘We Are More,’ an initiative hoping to change the way young adults with illness and disability are seen by society. She really wanted young people with illness and disability to continue to have ambitions, dreams and hopes for the future. The fact that she had so much faith in our mission to empower young people and encourage them to dream makes it all the more tragic that someone robbed the future hopes and dreams of hers. Although Christina’s life was ended by a senseless act of violence, the impact that she made on the rare disease community will never fade. I know I’ll always be thankful she believed in us.” — Emily Muller, Founder/Activist: Emily’s Fight and Lead Communications at We Are More

“[Christina] was a wonderful, beautiful person inside and out, both on stage and off. She was an incredible inspiration for the rare disease community in her too short life. She was an emblem of youth and advocacy. And in that aspect, we were one and the same.”  – Ben Lou, Member At Large: We Are More and [Christina’s] “favorite person.”

Christina’s Mother, Christina’s Father, Ben, Christina at the Global Genes 2nd Annual Denim Dash - image provided by Ben Lou
Christina’s Mother, Christina’s Father, Ben, Christina at the Global Genes 2nd Annual Denim Dash.

 

Jesse and Christina at the 2015 Global Genes Tribute to Champions of Hope
Jesse and Christina at the 2015 Global Genes Tribute to Champions of Hope.

“The world knows Christina through her videos and music. I was fortunate to get to know the young woman behind the voice. Christina was goofy, caring and devoted to her faith. At the Global Genes Tribute to Champions of Hope, where she gave an impromptu a capella performance (due to sound issues), she coolly laughed off the technical difficulty stating ‘the piano was just a stage prop.’ That was Christina, seeing the silver lining to everything. Her sound will be missed, but her legacy of compassion will live on.” — Jesse Marimat, Patient Advocate

Christina was the type of person who you could meet and feel like you’ve been her friend for years,” [Travis] explains. “She had a diamond heart and was so giving. I only had the gift of knowing her for less than a year, but her charisma, talent, and enthusiasm for life were inspiring to me far before I had the pleasure of calling her my friend. Her legacy will continue to touch lives forever. She and her family are beloved by so many and my deepest prayers go out to them, as well as all of her friends and fans.” — Travis Flores, Patient Advocate, Writer, Actor, Philanthropist (in a statement to Entertainment Tonight)

Christina and Travis at the Global Genes Gala and the Global Genes Denim Dash
Christina and Travis at the Global Genes Gala and the Global Genes Denim Dash.

 

Christina and Aleem at the Global Genes Tribute to Champions of Hope
Christina and Aleem at the Global Genes Tribute to Champions of Hope.

“I had the honor of performing with Christina at the Global Genes Gala in Newport Beach last year. Her performance that night is one I will never forget. While she was playing her set, her piano gave out due to technical difficulties. This is an uncomfortable situation to be in while hundreds are watching, but Christina was unfazed. She quickly reacted by grabbing the mic and delivering an a cappella performance that left the crowd in awe and garnered a well deserved standing ovation. Christina was a true professional but more importantly, a true artist. She touched the lives of many through her kindhearted personality and unbelievable raw talent. Her music will live on forever.”  — Aleem, Singer/Songwriter

“For years, Christina Grimmie had always been the beautiful voice with the captivating persona that I’d watch YouTube videos of on repeat. It wasn’t until last September that I began to see the girl behind the beautiful voice. The girl who spent her free weekends at charity events, who lent her platform to those who had none. I actually met Christina through a charity, Global Genes. She was at their 2015 gala as a guest, friend, and performer. After a great couple of songs, she was ready to sing again when, completely out of nowhere, the audio stopped working. It reminded me of a Michael J. Fox quote, ‘Things are going great; then you hit a wall and things change. I think it says a lot by how you react to that.’ And as everyone in the audience was waiting to see how this tiny, beautiful musician would react to no music, she laughs it off and puts everyone at ease, and continues to happily sing a capella, and man can she sing. In the short while I was able to live in her light, I didn’t have a worry in the world. By being in the same room as her, I felt safe and comfortable. She was one who saw everyone as an equal, and who showed her faith through her actions. You could tell by the love, compassion and acceptance that she welcomed you with. It’s my greatest hope that I can honor Christina by living my life as she lived hers: completely, brightly, and confidently, even when the music goes out.”– Madison McLaughlin, Actress, Advocate

“We are heartbroken to hear the news about our friend Christina Grimmie. She was extremely talented with such a kind heart. She used her platform to not only increase positivity in this world, but to help raise awareness and funds for numerous causes. Christina was a selfless rare disease activist and has left a lasting impression with personal friendships she made in the rare community.We will never forget how she silenced a room and moved people to tears with her amazing acapella performance at the Tribute to Champions of Hope last year.  She has left an untouchable legacy and will be greatly missed. Our thoughts are with her family and friends.”Global Genes

Christina generously supported the entire rare community. If you can, please consider giving back by donating to her family and supporting them through this difficult time.

Or, consider signing this petition that would help Christina be remembered in the next Legend of Zelda game, which was her favorite game of all time.

Christina Grimmie Tribute Performing (2)
Christina Grimmie, March 12, 1994 – June 10, 2016
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I Have a Rare Disease, but It Doesn't Have Me

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Dear Rare Disease Patients,

I struggled with ongoing lung symptoms for two years. I was referred from one specialist to another without any clear diagnosis. I donated my share of blood for testing, and I have mastered the stillness and calmness of CAT scans. My emotions have become immune to the process of new doctors, new tests, new procedures and new surgeries.

I know the process of checking into the ER. I can rattle off my medications without looking at the note card in my wallet. I remember to always have a hospital bag packed with a cell phone charger, a movie and my own pair of socks. I can navigate the hospital better than I can my own college campus. I know my health insurance policy number, as well as the phone number. I have waited to receive a room until 3 in the morning, and I have adorned the ever-fashionable hospital smock with multiple plastic bracelets. I have managed to become accustomed to a lifestyle I did not choose.

Eventually, I was diagnosed with dendritic pulmonary ossification. These sounded like scary and unfamiliar words. I remember I had to ask my doctor to explain what this really meant because I was taken aback. I was told my lung tissue has bone fragments or calcification deposits growing. I was also told my lungs form cavities or holes in addition to small nodules that turn into scar tissue. The scar tissue prevents my lungs from receiving oxygen unlike where healthy lung tissue disperses oxygen to the rest of the body.

Angie lying on a bed in the hospital
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Angie lying on a bed in the hospital

I did not grasp the seriousness of this condition until I was informed it’s an orphan disease and is normally seen in the elderly. I was told my condition falls under the category of an “Interstitial Lung Disease” and there was not a cure.

I felt like a rare and unusual case, but that is because I am. I am an entity composed and comprised of a disease that is not known. I am the possessor of a body that has a disease without a lot of knowledge or background. My disease does not have cure or an effective treatment.

There are days when I thought, “How this could have happened to a person who ran five to six miles a day four to five days a week?” I thought about how unfair it was for me to have to spend more time at appointments than in my junior year college classes. I thought, “How could have I been dealt such an unfair hand?”

Yes, I have a disease. Did I chose an orphan disease? No. Did I want my quality of life to be drastically altered? No. Did I want to adopt a schedule centered around nebulizer treatments and medication? No. Did I like going to hospital once a week for four months? Heck no. Did I want to educate my doctors on my disease and new symptoms? Absolutely not.

I have a disease, but disease does not have me. The disease will not tighten its grip because it is one of a kind. I will not take the label of being the sick girl or the sick student or the sick friend. I am not going to let the unknowing-ness disassemble my strength. I am only at the beginning stages of this disease, not at the end, and I am not going to let the ambiguity and uncertainty become a resident in my mind. I still have dreams and aspirations of becoming a child life specialist, and frankly, that dream is more magnified and crystallized now than it ever has been. This disease may be a rut in the road, but it will definitely not become a root of my authenticity.

I have been told that the prognosis is unknown, that a treatment is not established and that a cure has not yet been developed. This may seen disheartening, depressing and hopeless to some, but I have my voice, my updates on symptoms and my follow-ups that can pave the path of a possible treatment or a delay of the disease.

I can help those who are not yet diagnosed, and I, right now, can acknowledge the fear, the vagueness, the patience running thin, and the disbelief of Interstitial Lung Disease patients with dendritic pulmonary ossification.

Sincerely,

A Fellow Rare Disease Patient

The Mighty is asking the following: Write a letter to your teenaged self when you were struggling to accept your differences. Check out our Submit a Story page for more about our submission guidelines.

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What the Other Rare Disease Moms in the Waiting Room Helped Me Realize

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Perspective is everything.

While at the clinic yesterday for a rehab doctor appointment, we were told again that our daughter would never walk independently and that we should definitely stop focusing on this as a goal. We were also told she would never speak clearly enough for non-family members to understand her, and that we should consider a communication device. I told this physician, “We’ll see,” but I was feeling defeated.

As we were leaving the office, five mothers commented on how they would be overjoyed for their child to someday use a walker with such finesse as does our daughter. And I felt an incredible gratitude as I looked down at my spunky, sweet girl pushing her hot pink walker past the wheelchairs, and also a sadness for these mothers’ hearts.

I wondered how many of these parents had also been told about their child’s limitations that day instead of being told of their child’s value.

A sixth parent confided in me, with teary eyes, “My son used to have a walker like that, but now he has to use his chair. He has a degenerative disease.” I glanced over at him. He was beaming with the widest smile I’d seen that day. Her son looked happy, but his mother was so consumed with sadness that she didn’t seem to notice. “He looks like such a happy boy,” I commented. His mother might not have considered that other children (mine included) also suffer from degenerative diseases and that I sometimes have terrifying images of our future scream through my head. Her son was definitely not one of these images; he was a joyful light.

Like all rare kids, our daughter will write her own story — not a rehab physician.

She may or may not walk independently some day. We’ll see. But most importantly, she is a bright light in our world.

Anneliese in a field
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Anneliese, Gia’s daughter.

The Mighty is asking the following: What’s one thing people might not know about your experience with disability, disease or mental illness, and what would you say to teach them? If you’d like to participate, please send a blog post to [email protected] Please include a photo for the piece, a photo of yourself and 1-2 sentence bio. Check out our Submit a Story page for more about our submission guidelines.

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Facebook Showed Me My Daughter Wasn't the Only One With Her Rare Diagnosis

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From the time my daughter Kaia was 18 months old, up until January of 2015, I thought she was the only one. Medical databases didn’t have the answers, so who would have thought that Facebook would?

When she was diagnosed, I tried to Google; however, I found nothing. So I shut down about it for a few years. I rarely talked about it. Nobody understood. It was hard enough for me to understand it all, much less try to explain it to other people. In January however, things shifted. Kaia was going through some trials — trials that left me desperate. I decided to Google again. This time, I found Chromosome Disorder Outreach. Through the site I learned they had a Facebook page. Through their Facebook page, I discovered there was a support group for families of those with chromosome disorders. I joined the group. I saw people posting pictures of their kids, struggles they were going through, and they, too, were searching for others. My eyes were opened to a world I didn’t know had existed. So many disorders. So many unanswered questions for so many parents. I was not the only one. I was looking for a different match, but we were all on the same journey. Someone then mentioned that there was a specific page for Chromosome 7. So that’s where I went. I decided to post my story:

“This is my baby doll. Her name is Kaia Jayce. At 18 months old, she was diagnosed with partial 7p monosomy (7p22.3-22.2). To our knowledge we don’t know of anyone with her same deletion. She loves dancing, music, school and is always joyful. She’s our angel baby. She was observed to have a large forehead, wide-set eyes, thin hair and a mild developmental delay. She also has glial scar tissue all over her brain. We see a neurologist in March. She is almost 6. If anyone has a child with a close deletion, I would love to hear from you.”

This was posted on February 10, 2015. On March 8, a comment was made on this picture and it read:

“OMG! We have the exact same deletion! PM!”

She happened to be a mother I had spoken with before, but didn’t realize we were a match. I did indeed message her, and we instantly connected. We started comparing notes. Her daughter Clara had only been diagnosed two weeks prior to that. We formed this bond I can’t quite explain. I loved her. I loved Clara. And we had never even met! We lived thousands of miles apart, yet I felt this instant connection. I immediately knew we were in this together for life. That day will forever be a day that my life was changed, and I know hers was, too. We couldn’t believe both of our doctors told us we were the only ones, yet here we were, together, because of Facebook.

Two days later, we decided we wanted to share with the group how we found each other — to offer some hope to others and encourage them not to give up.

“I hope this will give some encouragement to anyone on this page. My daughter on the left has a deletion on her seventh chromosome, 7p22.2-22.3. I was told they didn’t know of anyone else with her same deletion. She was diagnosed at 18 months old and is now almost 6. I joined this page about a month ago. Amazingly, another mom was able to find a match for her daughter who has the same deletion as Kaia! I cannot express how thankful I am that this page exists. I hope this will encourage others to not give up hope if you’ve been told the same!”

This was posted on the morning of March 10. Something else amazing was about to happen. At 6:24 p.m. we received another comment:

“OMG! My daughter has the same deletion. She’s 9. I can’t believe it. I had to double check you said deletion not duplication. Because everyone I’ve come across has the same chromosome, but duplication. Wow!

So in a matter of two days, I went from thinking I was alone — we all did — to knowing there were others out there.

And we all instantly connected. Erika, Anne and I shared a bond that cannot be broken. It was unbelievable to discover how alike we are. We were all from different walks of life, yet we shared so many things in common. So now we were up to three “matches.”

Clara, Layla, and Kaia
Clara, Layla and Kaia, the first three girls with 7p22 deletion to connect on Facebook through this group.

From there, we decided we had to be advocates for our kids. If we could find each other, we truly felt others were out there waiting to be found as well. We started brainstorming ideas. On a whim, we decided to make a Facebook page and see what happened. On May 10, we created 7p22 Deletion Awareness. Over the course of five months, we were up to 11. 

Our own efforts at research and advocacy have blown our doctors away.

In five months, we had done what medical doctors couldn’t do. Due to ethical reasons, doctors cannot go on social media searching for matches. But when you put “mommas on a mission” in action, amazing things can happen! I hope our story will encourage others out there who are still on the search.

Because of our efforts, medical history is being made. At the upcoming American Society of Human Genetics (ASHG) conference in Baltimore this October, a poster presentation will be presented for 7p22 deletion. This is huge. It means 7p22 deletion will be presented to thousands of researchers, doctors, clinicians, etc. The name needs to get out there, to become known and help spur research.

The more awareness is raised, the more others will understand. Having a disorder so misunderstood and unknown leaves us, as parents, in a world that doesn’t know how to help our kids when they need it. They don’t fit into one box or the other. They’re kind of like this, and kind of like that. We are learning as we go, and so are the doctors, teachers, therapists and anyone else who helps our kids. This is going to be huge for our kids, but also for future kids diagnosed with 7p22 deletion. One day moms just like us will hear those words, and their doctors will actually have answers. Things of course will still be unknown. Even though kids share a deletion, it doesn’t mean they will be affected in the same manner. But knowing others are out there who they can connect with changes the game. The doctors will have a better picture, and in turn, so will the parents.

We hope to continue to be a support and a light of hope for those out there who have not been able to find and connect with others like their children. Our group is now up to 19, and it continues to grow. If you find yourself reading this and your child does have a deletion in the 7p22 region, please contact us. You can find us on Facebook at 7p22 Deletion Awareness. We are also on Instagram as @7p22del and on Twitter as @7p22del. You can contact us by email.

Below is the rest of the family we have found so far. Yes, I said family, because that is what we are. Here is a glimpse into the sweet world of 7p22 deletion:

collage or people with a rare chromosomal deletion

Follow this journey on 7p22 Deletion.

Do you have a story about your experience with disability or disease? Maybe a moment that made a big impact on you? Please send it to [email protected] and include a photo for the story, a photo of yourself and a 1-2 sentence bio. Check out our Submit a Story page for more about our submission guidelines.

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5 Similarities Between a Rare Diagnosis and Challenges of Winning the Lottery

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I recently heard the most intriguing report about lottery winners. Apparently, it’s not as easy as it sounds. I mean, you just won millions of dollars, so who cares how hard the process is, right? I am pretty sure I could “suffer through” winning 50 million; couldn’t you?

It really made me curious. The more I listened to the challenges associated with those who have won the lottery, the more I noticed great similarities between their experiences and my own when my baby boy was diagnosed with a genetic disorder.

1. You keep it a secret.

If lottery winners breathe a word to anyone, they run the risk of being hunted like prey. We left the geneticist’s office and sealed our lips and hearts around our news. It took weeks, months, which turned into years before we were comfortable telling people about our diagnosis. Not only because it was hard to talk about, but because we were fearful of being judged or labeled.

2. You need a team of specialists.

The prepared lottery winners assembled a team of attorneys and financial planners before even traveling to their state capitol to claim their winnings. We have recently added attorney and financial planner to our team of over a dozen specialists, which includes a cardiologist, neurologist, physiatrist and feeding specialist.

3. Your perspective changes.

Unfortunately for the lottery winners, their perspective on what they used to think was acceptable (a three-bedroom apartment in a semi-decent neighborhood) may shift in a negative way — they might start to see what they were “lacking.” Fortunately for us, our perspective on what was important in life shifted for the better. We now appreciate all the little things we were too busy to see before. Everything we do and have has a deeper value than before.

4. You find out who your real friends are.

There’s nothing like a little money to uncover the self-centered or swindling folks in your inner circle. Similarly, there’s nothing like a life-changing diagnosis to uncover the love, compassion and ride-or-die attitude of the people you’ll do life with forever (yeah, it may also uncover a few you won’t).

5. You win!

I feel our baby with special needs brought us into life’s “Winner’s Circle.” Through our struggles and doubts we have come to a place of rising above the everyday challenges of life and always finding a place where we win, because he wins. No matter the amount, lottery winnings are finite. The win in our lives and hearts will be with us forever and grow bigger, not smaller. They will be passed down to future generations in even greater proportion.

I’m sure I didn’t always feel the same excitement and rush as lottery winners do when they double-check those winning numbers with the ticket in their hand. But that baby boy is now 15 years old. And I can honestly say that given the choice between him and the $50 million, we’d pick him 100 percent of the time.

two brothers with their arms raised and smiling
Melanie’s kids.

Follow this journey on Redefine Special.

The Mighty is asking the following: Create a list-style story of your choice in regards to disability, disease or illness. It can be lighthearted and funny or more serious — whatever inspires you. Be sure to include at least one intro paragraph for your list. If you’d like to participate, please send a blog post to [email protected] Please include a photo for the piece, a photo of yourself and 1-2 sentence bio. Check out our Submit a Story page for more about our submission guidelines.

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