The February Day That Makes Me Proud to Be the Mom of a Child With Rare Diseases

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Traditionally, February has always been one of my least favorite months of the year. Let’s face it: in February the weather stinks, daylight saving time doesn’t begin for over a month and summer seems far off into another atmosphere, despite the fact that bathing suits are already hanging in department stores.

Three years ago, shortly after my daughter’s birth, she was diagnosed with mosaic Beckwith-Weidemann syndrome, trisomy 12 mosaicism and hyperinsulinism. Three very rare diseases caused a rare event to occur, and my perspective on February changed.

In addition to learning about my daughter’s rare diseases and prognosis, I found myself taking a crash course on the purpose of awareness days, specifically Rare Disease Day, held every year on the last day in February. To my surprise, it was a big “to do.” I learned that thousands of events take place across numerous countries every year. I studied up on how rare disease organizations strive to raise awareness and how they serve as advocates for people affected by rare diseases. I took time to educate myself on the organizations’ contributions to the advancement of national policies for rare diseases.

Then, I paused for quite a while.

woman hugging girl wearing glasses
Lynda and her daughter

I took time to speak to other parents whose children’s lives were affected by a rare disease, and this is where the real learning took place.

I learned that for many parents, the last day in February is a day on which they stand on common ground to connect with others who face similar fears — a secure and safe place to relate. For some parents, this day represents their search for answers or a definitive diagnosis, a search which for many started the day their child was born. For most, it is about the fight toward a cure for their child’s disease. For others, it’s about the anguish of having to settle with the unknown. And still for other parents, this day serves as a memorial for their angel who looks down on them from above.

I’ve learned that, for all of us, this last day in February serves to bring awareness to what our children experience daily. It serves to shed light on the passion and tenacity
our children possess. To spread the news of the courage our little ones have to push through each and every day. To inform others of the trauma many of our kids have endured. To bring attention to the grief parents feel when we are unable to alleviate our child’s agony. This day serves to facilitate conversations about a parent’s fear of the threat of losing a child or the anger and grief when receiving a diagnosis.

Then I paused again and took a long look at myself, my husband and my daughter and have slowly learned what Rare Disease Day means for us.

For me, the last day in February is an important one, a day I’ve fallen in love with. It serves as a reminder that we are in the company of an elite group of parents and children who have redefined what living life to the fullest means. It’s a day I celebrate being a different kind of parent and living a different daily “normal.” It’s a reminder to me that my husband, daughter and I, as a family, represent strength, resilience and perseverance. It’s a day that makes me proud to call myself her mom.

man, woman and little girl's faces
Lynda with her husband and daughter

The Mighty is asking the following: What’s one thing people might not know about your experience with disability and/or disease, 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 You’re Facing a Life Alone With Chronic Illness

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I never truly allowed myself to believe I’d marry. I didn’t think I’d find someone who would and could love me as much as I needed with my chronic health issues. I would require caregiving on a frequent basis, and at some point I’ll likely require it on a much more regular basis. That is a lot to request from another person, especially from the very beginning of a relationship and a marriage. Could I find someone who would be willing to take on this responsibility from the get-go? I did and my life was complete… or so I thought.

From a set of unfortunate circumstances and events, I lost my trust, and the life I knew had changed and I couldn’t change it back. My complete life was being torn apart, and divorce was on the horizon. I have a new life to fulfill on my own now.

Facing a life alone with chronic illness and the possibility for another cancer diagnosis in my future was a terrifying choice, but it was a choice I had to make. I felt completely alone in the world. Questions raced through my mind, filling my heart with fear and anxiety.

What would I do if my health worsens? What would I do if I developed cancer again? What would I do if I couldn’t work anymore and support myself? What would I do? What would happen to all my dreams? Can I do it all alone?

Making that choice was the hardest part.

Once I made the choice, as difficult as it was, a relief began to set over me — a relief that would grow the more I shared my concerns with my friends and family. A concern that was fettered away by more and more people. My primary support system offered reassurance and oaths never to leave me alone in this world. I would be taken care of when the time came. In addition, I will be purchasing long-term care insurance to ensure the financial burden of caregiving is provided for without a need for help from others. I’m doing everything I can to ensure my own well-being is cared for — by myself or by caregivers.

I’m learning more than I ever expected during this process. It never ceases to amaze me how much we can never truly prepare ourselves for all that we will encounter in life, though we try.

I’m learning to value and fiercely protect my independence. To stand on my own two feet and create the life I want for myself is the greatest accomplishment I’ll achieve, and I am excited to create a masterpiece. To lose my independence is now my greatest fear. I will fight tooth and nail to maintain and support myself and will gladly do so. My eyes have been opened to the joy that is self-sufficiency and the fulfillment that accompanies it. I’m finding that independence is much more than financial independence — it is the emotional and mental survival in the face of destructive forces.

I’m learning to cherish my support system more than ever. I’m gradually becoming accustomed to turning to the people in my support system when I need a shoulder to lean on. I’m discovering that independence isn’t not leaning on anyone ever, but discerning between periods when I can handle an emotionally tough time on my own and an overwhelming period when I need my support system’s aid. I’m letting my people be there for me and am gratefully returning the favor.

No matter what is yet to come, I’m looking forward to tackling each issue with a new set of skills that I continue to hone. And I’ve realized we’re not alone after all — not as long as we let others in.

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Jenny standing outside with her arms raised, facing away from the camera

Follow this journey on Life’s a Polyp.

The Mighty is asking its readers the following: Share with us the moment, if you’ve had it, where you knew everything was going to be OK. 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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Doctor Writes Emotional Letter to David Bowie About Terminally Ill Patient

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Dr. Mark Taubert, a palliative care doctor at Velindre NHS Trust in the U.K., wrote a letter to David Bowie thanking the iconic musician for helping him discuss death with one of his terminally ill patients.

After 18 months living with cancer, Bowie died on Jan. 10, and the letter was published on the BMJ Supportive & Palliative Care blog on Jan 15. The Sunday after, Bowie’s son Duncan Jones tweeted a link to the letter addressed to his dad.

In it, Taubert describes the conversation he had with a woman who is “facing the end of her life.”

“We discussed your death and your music, and it got us talking about numerous weighty subjects, that are not always straightforward to discuss with someone facing their own demise,” Taubert wrote. “In fact, your story became a way for us to communicate very openly about death, something many doctors and nurses struggle to introduce as a topic of conversation.”

Taubert says many individuals think death is something that happens in clinical settings, but that he presumes Bowie chose to spend his final days at home. “This is one of our aims in palliative care, and your ability to achieve this may mean that others will see it as an option they would like fulfilled,” Taubert wrote.

Circling back around to the conversation Taubert had with his patient, he wrote:

“[W]e talked about a good death, the dying moments and what these typically look like … [She told me] that she wanted to be at home when things progressed, not in a hospital or emergency room, but that she’d happily transfer to the local hospice should her symptoms be too challenging to treat at home.”

Taubert concluded the letter by thanking Bowie and wrote:

“We both wondered who may have been around you when you took your last breath and whether anyone was holding your hand. I believe this was an aspect of the vision she had of her own dying moments that was of utmost importance to her, and you gave her a way of expressing this most personal longing to me, a relative stranger.”

You can read Taubert’s post in its entirety on the BMJ blog.

h/t Irish Times

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To the Person Who Doesn’t Want to Go Out Because You Feel ‘Fat’

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Living out a cancer diagnosis has changed me. There is less room for the negative, because life has proven that there is so much to grateful for. But I still struggle in a pretty spectacular way with the living out of what has changed inside of me.

True confession here. My high school girl friends have an annual coffee Thanksgiving weekend. These women are beautiful, kind, generous, compassionate, brilliant, successful and funny. I love them. I treasure them and the instant conversation that ensues when I join their company. Time has never passed. These ladies are quality.

I’m big into old friends are the best friends, staying connected, investing into relationships. You get what you give, and I want these ladies in my life.

I skip this awesome tradition almost every year. Because I feel fat.

Yep. I stay in my house and miss the conversation and the hugs and laughter and friendship because I’ve been convinced that my size would be too much to overcome and surely overshadow any talking we could do. It would be the elephant in the room, pun intended.

Warning. I save my bad words and I am going to use them for this. That is such bullsh*t. Not one of the world’s smallest measurement of judgment has ever come forth from my friends. Never. Ever. That’s why I love them so much. We look at hearts and brains, not shoes and sizes.

Me. I judged myself. Deemed myself unacceptable and unworthy because the annual coffee falls on a day where I’ve had a couple days of overindulging and I would be up a few pounds.

Story gets happy now. I went this year. Decided two weeks ago I was going. Granted, I showed up on the wrong day, but the motivation was there. Same weight, much worse hair cut, but a changed heart. How incredibly selfish and small I’ve acted. How incredibly freeing to finally get it.

Are you so sick of hearing of this new post-cancer perspective on life? Too bad. I’m going to repeat it until you get it, because you are worth it. Whatever you are worrying about, whatever is holding you back — here is what I think might be happening. It might just be you and your own insecurities, and your own inner dialogue might not be entirely accurate.

You don’t know what tomorrow will look like. Our outer beauty is fading by the moment.

What you have today and what you are is enough. I promise.

Heather (center) and two friends smiling outdoors
Heather (center) and two friends smiling outdoors
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When Doctors Get Excited About How 'Rare' I Am

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Having a rare disease just might be the worst thing that has ever happened to me, but it’s a bit of a paradox.

Having every single, doctor, nurse, resident and medical student tell me how rare I am, again and again, wide-eyed with excitement as if they are giving me a compliment, only adds to the frustration. No, I am not impressed by my rare condition. Frankly, it sucks. No, I don’t think it’s wonderful you get to treat me. No, I’m not happy my tumors will be in a medical journal. I really wish I could be like one of those people that just make an occasional doctor’s appointment, like, “Hey doc, there’s a rash on my butt, here, take a look.” Unfortunately, my life will never be that simple. The pain, the surgeries, the tests, the meds. The reality is that it’s difficult and dangerous, and I never get a break from it.

I been given the dubious honor of having a mutated gene responsible for multiple endocrine neoplasia type 2a. This has caused medullary thyroid cancer, as well deadly hormone-secreting tumors of the adrenals called pheochromocytomas. It has changed the plans for my life dramatically. I will never be done fighting this disease. It is part of my life forever. I did wind up losing my adrenals to these tumors. It sure beats losing my life, but the cost is adrenal insufficiency. Another rare, little-understood and life-threatening condition to add to the collection.

I also passed this rare, genetic honor on to my daughter. She is still too young to realize the implications of this, but she is why I fight. A better quality of life for her generation is why we need to push for research on new diagnostics and treatments for rare diseases. With an estimated 350 million people living with rare diseases worldwide, being rare is not as uncommon as you want to believe.

My disease has changed me completely. I take it all in stride, but for the sake of honesty and reality, I will tell you it has been a long and grueling experience. It has grown me, no doubt. I am definitely a better person for it. Knocking me flat gave me a whole new perspective of the world. Suddenly life is no longer a race. There is no finish line. This is it. It’s happening now. I have no time or energy for bitterness. It’s easier to forgive and love. My capacity for compassion and empathy has grown exponentially. I’ve met so many strong, beautiful, inspiring people also fighting chronic illness and rare disease that have affected my life profoundly and have given me the strength to carry on. Being rare has made gentle, yet strong; careful, yet uninhibited; vulnerable, yet unashamed, and I don’t regret a thing.

The dubious honor of being rare.

Michelle and her child

Follow this journey on Cortisol Musings.

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Why This Woman Needs Your Help to Stop a ‘Silent Killer’

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A cancer patient is pleading for just 15 seconds to help save a life.

Erin Barnett, from Vancouver, Canada, has ovarian cancer. Her’s was caught early and she’s on a mission to help other women get diagnosed early as well.

In a post on her Facebook page, Barnett asked readers to please take 15 seconds to describe the symptoms of ovarian cancer, which are subtle, to the women in their lives.

She’s determined to get the message out to at least 580 women, as the odds of getting the cancer are 1 in 58, according to the University of Connecticut Health Center. Barnett reasons that then she’ll then have helped at least ten women get an early diagnosis.

Since Barnett posted it on December 23, the post has been shared over 260,000 times.

I’ve debated long and hard about posting anything here about my health. This feels like a very personal journey, yet, at…

Posted by Erin Barrett on Tuesday, December 22, 2015

 

Read the full text of her post below: 

I’ve debated long and hard about posting anything here about my health. This feels like a very personal journey, yet, at the same time, one I want to make sure as many women as possible can avoid. So, with raising awareness in mind, I’ve decided to share what’s going on with me and my ovaries. Actually, ovary. Singular.

I happily gave birth to a wonderful baby girl, Edie, on September 24th. Less joyfully, at the same time I also had my left ovary, fallopian tube and a nearly 6 pound tumor we jokingly named Ozzy, removed. Shortly thereafter I was diagnosed with stage 1c, grade 1 ovarian cancer. The stage and grade are important because it means they caught it early.

I am currently going through chemo and will start radiation at the end of January. I feel nothing but positive in regards to my outcome and future plans. Plans that include never facing this again. And growing my hair back.

People have asked me what they can do to help. This is something I have struggled with as I have been so well looked after. My decision is to ask you all to help me raise awareness.

They call ovarian cancer the silent killer. This is because the symptoms are so subtle that it is often caught too late. Currently, the odds of getting ovarian cancer are 1 in 58 (compared to 1 in 7 for breast cancer).

I want the next ten women who are diagnosed with ovarian cancer to be diagnosed early. This means I need your help in telling 580 women about the symptoms.

This is where you come in. Take 15 seconds – that’s all it takes – to tell two or three women in your life about the symptoms. This could be your wife, your mother, your sister, your daughter, any woman you care about. I want to keep a tally below of how many women have been told. Add your women to the list and move the count up (this is mainly so I don’t have to count them all by hand. I’m going through chemo, cut me a break on being lazy.

Here we go:
• Persistent stomach pain
• Persistent bloating
• Finding it difficult to eat or feeling full quickly
• Needing to pee more often
• Back pain
• Changes to bowel habits (constipation or diarrhoea)
• Feeling tired all the time

If any or all of these are present, especially in women over 40, please please go see your doctor. You’re not wasting anyone’s time, you’re being smart and ensuring you’ll be around for the long haul for the people you love.

So, if you want to help me, get on the phone, send an email (or six), grab a coffee with a woman you love and spend 15 seconds talking about this. It could save her life. And, it’ll make me happy (guilt, guilt).

If you have any questions about my health, my treatment or about ovarian cancer, send me a message. I realize that opening myself up this way means a lot of you will have questions and I’m happy to answer as best I can.

Don’t worry, I’ve decided that I’ll be fine, and that’s just the way it is.

With love,
Erin xx

P.S. Here’s the link to the ovarian cancer charity that used to be one of my clients – ya, I know, the coincidence blows: http://ovarian.org.uk/…/what-are-the-symptoms-of-ovarian-c…/

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