Amanda giving her speech at Listen to Your Mother Vancouver

When I Overcame a Lifelong Fear to Advocate for My Daughter With Cystinosis

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I never had an interest in public speaking. In fact, I avoided it as much as humanly possible. It always made me think of those times in high school when I had to present a project to the class. My heart beat so fast I could barely breathe and my voice trembled as I tried to rush through the presentation as fast as possible. So it’s no surprise that I never followed any paths that led towards public speaking in my post-secondary school years. Until my life took a new direction.

Since my daughter’s diagnosis almost three years ago, my goals and the way I live my life have dramatically changed. Cystinosis is such a rare disease that most people only hear of it because they know someone affected.

I aim to change that. Though there are only an estimated one 1 in 100,000 to 200,000 people worldwide living with cystinosis, it shouldn’t limit the amount of people we can educate. All we need are people willing to listen.

I began writing about our journey with cystinosis on my personal blog and got the bug for writing about it on other sites after The Mighty published a letter I wrote to cystinosis. I realized this could be the way I get cystinosis out there, so I began submitting to parenting sites. I was thrilled to be able to share my stories and spread some awareness to an audience who would have never found their way to my blog on their own.

One day I saw a casting call for the first Listen to Your Mother Vancouver show. A show that invited people to read their stories related to motherhood on stage — in front of a live audience. I knew it would be an incredible opportunity to advocate for my daughter and cystinosis, but I immediately dismissed it as something I simply would never be able to do.

But it stayed in my mind, tugging at my fear of public speaking and daring me to do it anyway. If there’s one thing I’ve learned from my daughter’s diagnosis, it’s that this life is fleeting. It’s too short to worry about silly things like what others might think of me. And it’s definitely too short to let my fear stop me from doing what I want, and certainly from doing things I hope will make a difference.

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Choking back my fear and the rising urge to hide trembling under my bed covers, I booked myself into an audition spot and began rehearsing like crazy! I’d just written an essay I thought would be perfect. It talked generally about my motherhood journey and my dislike of the phrase, “as long as it’s healthy.” In my opinion it was universal while still a personal testament to my experience.

A couple months later I was surprised to learn the producers felt the same way! Somehow I managed to make it through my audition without my voice breaking, though I was pretty sure my heart was only seconds away from pushing right out of my chest, and then I was officially a cast member.

Amanda with the cast of Listen to Your Mother Vancouver
The cast of women speaking at LTYM Vancouver

On April 30th, 2016, I got on that stage with 12 other incredible women and bared my soul in front of almost 300 people. I told others how much my daughter meant to me and how her disease didn’t make her less than any “healthy” child. I fought back tears when I explained how much joy she brought us and how grateful I was to have her in my life. And I made it through, despite my lifelong fear of public speaking.

You can watch the video of my speech below:

At the end of the show I was in the crowd speaking with my friends and family who had come to support me when a woman I’d never met before introduced herself. She started with “hello” then immediately broke into tears. She began telling me about her daughter who had cystic fibrosis and that she completely understood how I felt. She thanked me for sharing my story and I was at such a loss for words that I gave her a hug and thanked her right back.

Amanda speaking about her daughter and cystinosis in Vancouver
Giving my speech at LTYM Vancouver

This show has been one of the most powerful experiences of my life. It started with my desire to raise awareness but ended with me growing as a person, conquering my fear and connecting with a stranger on a deeply profound level.

And I have my daughter — and ultimately cystinosis — to thank for it. Without them, I would have never even started writing and most certainly would not have gotten up on that stage. As difficult as cystinosis can be sometimes, it is now an integral part of our lives and I can’t help but be grateful for some of the lessons it has taught me.

You can read the full version of Amanda’s essay on Coffee + Crumbs.

Follow this  journey on Elsinosis.

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What I Learned by Not Keeping Silent About My Daughter's Cystinosis

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Alone, terrified and heartbroken — that’s how I felt when my daughter was diagnosed with cystinosis. I didn’t know what it was, had never even heard of it before, but this disease was inside my little girl. Wreaking havoc on her tiny body.

It wasn’t yet officially confirmed, just a word casually dropped by the ophthalmologist when he checked her eyes for cystine crystals, a symptom of the disease. He’d assumed the nephrologist had already told us their suspicions, and he probably thought he was helping to ease my worry by confirming it. What he didn’t do was bother to explain it. Just prescribed some eye drops and sent us on our way.

So my husband and I turned to Google, and my heart shattered. Reading the symptoms, I knew. I knew this disease might be responsible for her declining appetite and poor growth. All those times I thought she was just a picky eater, or slow to develop, cystinosis was there, damaging her kidneys. She was only 15 months old. How could this be happening? There were terrifying terms and complications being thrown around.

My despair grew by the minute. I could feel it, dark and heavy, blurring my vision with tears and crushing my heart. Even with my husband by my side, the loneliness I felt in my grief was all consuming. Not having an official diagnosis, we hesitated in telling our family. Talking about it was confirmation that it was actually real. When something happens to your child, the one who relied on you to protect them, the pain can be excruciating. Reliving that and sharing it with others can be too much to bear.

A day later, I headed back to work. hoping to have something to distract me from my pain. The ride there was difficult, and I had a hard time keeping it together. Immediately I regretted my decision to give it a try. But when I arrived, I had tasks to complete and clients to assist, and I quickly found that keeping busy was actually working, at least temporarily.

It was the small talk with co-workers that proved to be too much for me. I couldn’t exchange niceties and answer questions about our plans for the weekend while pretending that nothing was wrong. Quickly I found myself mustering up the courage to spit out the words that had been haunting me for two days: “My daughter has cystinosis.”

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They say the truth will set you free, and though I hadn’t been lying to myself, my silence had caged me with my pain. When I let out those words, I felt the pain that had wound itself tight around me begin to loosen. As it unfolded, some of it began to edge away from me. I could see it in the glistening eyes of my co-workers as I explained all I knew.

That’s when I realized how many people cared about me and my family. Speaking with them about the yet-to-be-officially-diagnosed condition my daughter had was not unnecessarily burdening them. They wanted to help, to be there. We were not alone in our new reality. There were people willing to lift us up and support us during this difficult time.

When I got home, I told my husband how relieved I felt to share and talk with others, so we made plans to see his parents the next day. Every time we opened up and let people in, our heavy load became a little lighter. We had a long and challenging road ahead of us, but at least we knew we would not have to travel it alone.

By not talking about it, we had given cystinosis more power than it deserved. My daughter is stronger, and so are we — with our friends and family by our sides.

The author's friends and family

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6 Lessons I’d Like to Share With Parents New to Cystinosis

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Shortly after my daughter was diagnosed with cystinosis, I was lying awake in bed one night with my mind full of thoughts and me desperately trying to silence them. Then an idea popped into my head. Maybe I should start a blog. I felt scared, alone, broken and hated the idea of anyone else feeling this way.

There were so many questions I had and so many unknowns in our future, and I knew there must be other parents out there who felt as I did. I wanted to help. I also hoped that writing out my feelings and the many, many thoughts that kept me up at night would give me some peace. Although I have certainly found a lot of healing therapy through writing, I can’t say it’s done much for my overall sleep.

Amanda Buck and her daughter.
Amanda and her daughter.

But my main motivation for publicly sharing our challenges and triumphs was my desire to help others, namely parents who would join our community after me. To think that I might make a challenging time in my life a little bit easier for someone else gives me hope and a deep sense of connection to the cystinosis community. And to actually have someone thank me has been so fulfilling.

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So I thought I’d share some of the things I’ve learned over the past couple years and the advice I would give to parents new to cystinosis.

1. Your journey is not the same as your child’s.

Many say that cystinosis can often be harder on the parents than their children. I hope very much that this is true. In the beginning, I was so upset that this was happening to my daughter. Why couldn’t it be me to take all the pain? Someone so young and innocent didn’t deserve it.

But right now I’m the one who’s keenly aware of the injustice. I’m the one who worries about making the right treatment choices and who frets about how much she’s eating or how much she’s growing.

My daughter, however, seems happy and mostly carefree. She doesn’t know any different nor does she appear to lament it. She has the same childhood as any other kid with a few added inconveniences but, at least for the moment, the fear and the heartache seem to be all mine. I am in no way, shape or form trying to say parents have it harder. Just that you’re both hurting in different ways, and I for one find comfort in knowing that I can at least take the brunt of the emotional pain.

2. Look for the positives.

That may sound like a ridiculous thing to say when your child is first diagnosed, but there are silver linings to be found. You’ll be amazed at the strength and courage that such a little person can possess, and every day will provide another opportunity to remain in awe of your child.

This can also serve as either a wake-up call or a reminder that the time to live life is now. Your child deserves the most amazing life and so do you. Don’t let fears or apathy hold you back. Get out there and do it! My biggest silver lining is the amazing and supportive community of parents, caregivers and adults with cystinosis. They ease my fears, answer my questions and give me hope.

3. Be mindful about what you share.

This isn’t something I overly considered until it was brought up in a writing group that I was a part of. Some people feared that in our mission to raise awareness and fundraise sometimes parents overshared and essentially took advantage of their children by using their pain and vulnerability for sympathy.

Immediately, I regretted sharing a picture of my daughter. It was minutes after her nasogastric (NG) tube was inserted as she was lying with her eyes still red and face splotchy from her struggles. I shared it because she now had a visible sign that she was different. It broke my heart when they inserted it, and I thought the weary look on her face represented how tough it can be sometimes. But that picture was taken after a very traumatic event for her, and she was extremely vulnerable. How would I have felt if that had been me? Would I have wanted that moment shared on the Internet for the world to see?

4. Don’t let it scare you from having more children (if you want more).

After her diagnosis, I became torn on whether or not we should have more children. We both wanted another baby, but we also worried about having another child with cystinosis. The disease was still so new to us, and we really didn’t know how it would affect our daughter longterm. Was it the kind of life we wanted to give another child? Could we handle the guilt?

Since accidentally getting pregnant and having my son join our family, I have to say that my outlook on this issue has completely changed. When I was pregnant, I’d decided that I had to know if my unborn baby had cystinosis so I could be prepared and have cystagon medication ready for them to take on day one.

So I had an amniocentesis done to test the fetus’s DNA, but it came with a one in 200 risk of miscarriage. Everything went well during the procedure, but that night I had some amniotic fluid leak and it was terrifying. I remember lying in bed crying my eyes out and wondering why the hell I cared so much. In that moment, it didn’t matter to me if my baby had cystinosis or not. I just wanted him to be OK. And I realized in the end that’s all that really mattered to me. Cystinosis or not, this baby was meant to be in our lives, and we were going to love him unconditionally.

5. Hate is a strong word.

I have heard quite a few adults with cystinosis say that they could never hate cystinosis because it’s a part of them. Just like having freckles or brown eyes, cystinosis is in their DNA, and it has helped shape them into the person they are today.

There are many awful things that can happen as a result of cystinosis. Things that I would never want anyone to endure, let alone my precious daughter. My mama bear instinct is to immediately fight and loathe anything that dare cause her harm, but on the flipside, I also love her completely and wholly. Saying that I hate cystinosis is like saying I hate a part of her and that simply isn’t true. While I dislike cystinosis and want to do anything I can to help researchers find a cure, I will never hate anything about her.

6. Let them be kids.

Many parents can have a tendency to coddle their children and hold them back from things because we want to protect them and keep them safe. I’ve found this tendency gets kicked up a notch after receiving a diagnosis. My daughter is prone to overheating quickly when exerting herself and rapid dehydration when sick, so does this mean that to protect her I should keep her out of sports and avoid social gatherings every time someone isn’t feeling well? The poor girl would miss out on the many benefits of organized sports and socialization if I held her back from everything that could result in a trip to the hospital. In fact, she’d probably never leave the house!

In order for her to have a well-balanced, happy life, she needs to be treated like any other kid. Yes, there are precautions that need to be taken to try and minimize her risks, and there will probably end up being certain things she simply won’t be able to do, but she also needs to be free to try, explore, get messy and live life fully.

There may be things on the list that resonate with you and some things you don’t agree with and that’s completely fine. Cystinosis affects everyone differently, and my views may not make sense for your family. If that’s the case, I hope this post has at least opened your eyes to another way of thinking, but also trust in your instincts and know you’re only trying to do what’s best for your loved ones.

And if you are new to this whole thing, please reach out to the community and join some support groups. We’re all here to help and answer any of your questions.

Follow this journey on Elsinosis: Living with Cystinosis.

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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Why Canada Needs Your Support On Rare Disease Day

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I love someone rare. Anyone who’s ever followed my personal blog knows that. And there’s a good chance if you’re reading this, you, too, love someone rare. And that’s the ironic thing about rare diseases — they’re actually more common than you may think.

In Canada, a disease is considered rare when it affects fewer than 1 in 2,000 people. About one in 12 Canadians are affected by a rare disease, roughly 67 percent of those are children. Currently there are over 7,000 known rare diseases and that number is climbing every year. With so many different diseases and each one affecting only a small and fragmented part of the population, expertise, treatment and research for each disease is extremely limited.

At the moment only about 60 percent of treatments for these rare diseases are available in Canada. And most of those were approved up to six years later than the United States and Europe. My family is currently experiencing this as the drug Procysbi has been approved in the U.S. since 2013, yet it is still not available in Canada.

The Canadian Organization for Rare Disorders is a wonderful organization advocating on behalf of all those affected by rare diseases by trying to implement an orphan drug policy (hello Canadian government, it’s 2016, the U.S. has had one in place since 1983 and Europe since 1999!), implementing advanced newborn screening in all provinces and territories, increasing accessibility for genetic counseling, promoting innovative research and much more. In May 2015 they released a rare disease strategy which, if implemented, would help Canada catch up to the countries that have already developed a national plan for rare diseases. Help them kick the Canadian government in the butt by signing this petition.

Out of those 7,000 and counting rare diseases, about 80 percent are caused by genetics, like cystinosis. And around 50 percent of those with a rare genetic disease are children, which is most likely due to the fact that the mortality rate for genetic disease is not great. About 30 percent of children with rare diseases will not live past 5 years old. Sadly it is estimated that 95 percent of rare diseases do not have one single FDA-approved medication and with only 50 percent of rare diseases being represented by their own foundation to support research, that figure will likely not change.

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Global Genes is a worldwide advocacy group who’s mission is to eliminate the challenges of rare genetic diseases. Their website has some great resources including documentaries, patient stories, webinars and more. Their shop Rarehouse has some great toolkits like “Advocating for your child with a rare disease at their school” and also some cute clothing and household items to help raise awareness. I like the “My Love is Rare” T-shirt.

It’s estimated that 350 million people worldwide are living with a rare disease. This is why initiatives like Rare Disease Day are so important. Separately, each rare disease and its supporters are small in number, but together we are a large group of strong and mighty advocates. When combined, rare diseases are in fact not all that rare, and those of us who are either living with or dealing with a rare disease could use everyone’s compassion and support. There are tons of events and social media campaigns happening on and around February 29 (Rare Disease Day) so check out what’s happening in your country and please support us.

You may not know anyone else with cystinosis, but with 1 in 12 Canadians having a rare disease, I’m sure you know someone else with something else, and supporting this cause supports us all.

share if you love someone rare graphic

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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When My Son Wrote What He Really Thought About His Rare Disease

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My son Chandler was diagnosed with cystinosis when he was just 10 months old. He is currently 10 years old. There have been many ups and downs along this journey, with many medication adjustments, hundreds of doctor’s appointments, several surgeries, many tears and many laughs.

Cystinosis is a rare genetic metabolic disease. It causes an amino acid called cystine to accumulate in various organs. The cystine will crystalize and cause damage to those organs. The kidneys and eyes are typically affected. There are only an estimated 2,000 people in the world with cystinosis, and 500 of them live in the U.S.

chandler moore
Clinton’s son, Chandler.

One thing I have tried to implant in his brain is that even with this illness, anything is possible. I tell him constantly there is nothing he can’t do if he sets his mind to it and gives it his all. One of my favorite things he often says to me is, “Cystinosis can tag along, or I will drag it.” He refuses to let cystinosis stop him from anything, even if it makes it more challenging.

One thing Chandler rarely ever does is talk about his feelings related to cystinosis, how it makes him feel or what he thinks about it. That was until September 2015, when we attended a cystinosis town hall meeting. There, Chandler got to spend time with other young cystinosis patients away from us parents. They could do and say whatever they wanted. It was an amazing experience for him to not be the only one taking all the medications and eye drops. All the other kids were doing the same thing as him. All the patients had time to spend with a mentor, and she showed them different ways to express their feelings about their illness. Unfortunately, the weekend quickly came to an end and we went back home.

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child's note handwritten on paper
Chandler’s essay about cystinosis.

After about a week back to the normal grind, Chandler came home from school and said he had something he wanted to show us. He reached in his pocket and pulled out a folded-up sheet of paper and handed it to me. He said his class had some spare time, and their teacher told them to do some reading or writing. He said he decided to write some of his feelings about cystinosis. When I unfolded the paper, I read these words:

“Having cystinosis is hard. It involves a lot of pills and a lot of surgeries. Eventually you will have to get a kidney transplant. Also, you have crystals in your eyes and you have to take eye drops to help. And yes, this stuff gets annoying, but I don’t care as long as I’m still here. I will keep doing it.”**

At first I was shocked Chandler had opened up and written this. He had never done it before. Just these few words have taught me so much. Rare diseases are tough. But no matter what it is you’re going through, you must keep pushing on. No matter how tough it gets, you have to keep fighting. Never give up. No matter what they say the future holds, you have to live every day to the fullest. None of us are promised tomorrow. Live today like it’s your last day.

The Mighty is asking the following: What’s one unexpected source of comfort when it comes to your (or a loved one’s) disability, disease or mental illness? 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.

**This passage has been modified for clarity.

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How My Sister Helped Us the Day Our Daughter Was Diagnosed

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When my daughter was born, my sister was over the moon in love with her. She didn’t plan on having any children of her own and was more than happy be the cool aunt. My children could go snowboarding with her, have awesome dance party sleepovers at her place or go to her for problems they wouldn’t feel comfortable talking to us about.

She’s also very maternal and would come over almost every day to hold my daughter after she was born. When she moved away to another town about two hours away, I really missed having her around.

Whenever she’s free and our schedules work out, she tries to stay with us for a few days. It’s easy to see that she gets just as much out of it as the kids do, and I love having someone to talk to who just instantly gets me. I never have to explain my thoughts or feelings to her. There was one visit I will be forever grateful that she was around.

We’d recently learned my daughter had not grown in height and actually lost weight between her 6-month and 1-year checkup. Besides the poor growth, nothing seemed to be wrong with her. Although our pediatrician ordered some tests, we weren’t overly concerned. We’d recently been to the renal clinic at our children’s hospital who hadn’t said much about their concerns besides the fact that they wanted some more tests done like an eye exam and wrist X-ray.

My sister was staying over when I got a call saying we could be seen by the ophthalmology department that afternoon. Why the rush, I thought? But I had my sister there to help out and keep us company so why not.

I sat there in the chair with my daughter in my lap as the opthamologist looked in her eyes and told me she had crystals on her corneas which was indicative of cystinosis. He told me this was a very important diagnosis and prescribed some eye drops. I asked how long she would have to take the drops. He said for the rest of her life. No one at the renal clinic had told us what they suspected, and I had no idea what cystinosis was. He said that our nephrologist would be in touch soon to discuss and sent us on our way.

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As we left the hospital, my heart was pounding and I was desperately trying not to freak out. Maybe cystinosis wasn’t that bad? Taking eye drops twice a day for the rest of her life seemed doable.

My sister was a life saver. She stopped me from getting too much into my own head and distracted me with unimportant banter on our way home. Surprisingly, we made it home in one piece, but I couldn’t take not knowing any longer. We went to the computer room with my husband to Google cystinosis.

It was bad. Cystinosis is life-long, chronic and progressive disease with no cure that included likely kidney failure, thyroid issues, muscle wasting, light sensitivity and thermoregulation problems. The list of possible hurdles she had coming was endless.

As we searched further and discovered more bad news, my husband and I quickly became more and more distraught. Without even asking her, my sister quietly left the room, taking my daughter with her and began to play happily in the other room as though our whole world wasn’t crumbling down.

Amanda Buck the mighty.2-001

When we finally couldn’t take it any longer, we turned off the computer and called the renal clinic begging to be seen by someone. They could see us on Monday, but it was only Thursday. At this point, my daughter was having a nap and we began telling my sister all that we had learned. My husband excused himself and went upstairs, not realizing that we could hear him from below. His deep, throaty sobs broke my heart further and I lost it, too. Without saying a word, my sister pulled me into a hug and held me until I began to calm down. Although she’s much tinier than I am, she held us both up strongly for as long as I needed her.

Later on that day, when my husband and I were calmer, my sister left the house saying she had to run some errands, though I’m sure she probably just sat in her car sobbing like we had. I never saw her cry the whole time she was there; she chose to remain positive around us and, most importantly, to play with my daughter just as she would’ve before. Seeing my daughter playing so happily made it hard to feel sad or dwell too much on our new revelation. She was still the same beautiful, smiling, joyful girl she’d always been, and it made me determined to help her remain so.

My sister has been and continues to be one of the most important people in my life. And even though she has been there for me more times than I can count, this one day will always mean so much. She helped keep my daughter happy and safe during a period when my husband and I needed to process and grieve, and for that, we will forever be in her debt.

Follow this journey on Elsinosis: Living with Cystinosis.

The Mighty is asking the following: Tell a story about a time someone helped you and/or your child when you needed it most. 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 “Share Your Story” page for more about our submission guidelines.

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