Because We Are Strong

This one might be a little difficult for me. As much as I put my family out there it doesn’t make sharing my story any less difficult. My story isn’t tragic. It’s not depressing. It actually is quite the opposite. Don’t get me wrong there are hard times, there’s a struggle, and loads of stress and uncertainties But among all the bullshit there are more blessings than I can count. I’ll be honest Rare disease never crossed my mind. Until it decided to stake a claim in my home and live there forever without being polite enough to ask for permission. That’s the thing though right? You don’t get a say with a rare disease. You don’t get to choose. But maybe that’s a good thing. Because if I got to choose beforehand I wouldn’t have one of the biggest blessings God has ever given me. This was a choice I’m grateful I didn’t get to make. Two and a half years ago our lives changed forever. I gave birth to Owen. My 12 pound chunky as all hell blessing. A boy whose life flipped ours upside down. Owen was born with Beckwith Wiedemann syndrome a disease I knew nothing about and had never heard, along with pretty much the rest of the world. Many of you here are Beckwith families who I am incredibly thankful for. But for the ones here that aren’t, I’ll give you a quick rundown of what bws is. Let me add my famous disclaimer. I am not a doctor but a mother on a mission. A mission to learn as much as I can about my son's disease, raise awareness in the process, and connect with anyone I can. BWS is an overgrowth disorder that affects Owens rate of growth. Hence why I gave birth to a toddler! One of the risks of BWS is an increased risk of developing childhood cancer. and as September is childhood cancer awareness month it seems pretty fitting to share Owens's story. Owen is screened with abdominal ultrasounds and bloodwork every three months. There’s a lot of other aspects of this syndrome that affect Owen but for myself, this one is the hardest. This is the one that constantly has bws mothers on the edge of our seats. Some of us manage this unknown aspect better than others. For myself, I go in waves. Sometimes I am doing fine and then other times I really struggle. You go from having a clean cancer scan and being on top of the world to a feeling in the pit of your stomach I can’t quite put into words. It’s a constant roller coaster of emotions. Not to mention the stress the scans bring. We try and make them as fun as we can but Owen hates the bloodwork. He fights like hell and begs me to rescue him. Nothing hurts your heart more as a mother than hearing your child beg you to help him while your the one helping to hold him down. That’s a trauma that sticks with you as a mother.

The CUBE and OOLER systems are two really cool gadgets that fit over the top of your mattress and use water to control the temperature of your bed. Right now Chili is offering my audience a really great deal. When you go to Chilisleep.com/findyourrare20, you can get 20% off the CUBE all sleep systems with findyourrare20. I hope you’ll check out Chili and see why I love their products so much.

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Hey peeps ! I am back this week and we are chatting with Brooke. Brooke is the mother of Evan, a boy born with “designer genes”. He is only a handful of people worldwide with his particular genetic condition, related to gene RPL10. Brooke is also the creator of Everyday Evan, her families blog that is striving to provide hope, Joy, Education, and prayers for families who find themself in a similar situation. I’m you host Theresa, So lets dive in

Welcome Brooke, thank you so much for sharing your families story with us today!

While reading your blog and Evan’s story it reminded me a lot of Kristine’s story with her diagnosis. From what I read Evan has a gene mutation but because it is so rare they have no official name for it. Can you explain a little bit about Evan and his gene mutation and how you came about to getting his diagnosis?

With Evan’s rare disease - what does a typical day look like for you and your family? What extra care does he need?

Can you share for those listening to what some of the most frustrating aspects are of Evan’s condition?

How do you cope with having a child with additional needs?

Because Evan’s mutation is genetic what are the chances of you having another child like him?

Do you ever have situations with strangers where you need to educate them on Evan?

We really want to touch on Your Blog Everyday Evan - can you share a little bit about that and what you are hoping to accomplish with it?

Since starting your blog, what impact have you noticed it has made on your family as well as other rare disease-fighters?

What is next when it comes to Evan and your blog?

Myeverydayevan.com

We want to thank you so much for coming on and sharing Evan’s story. Often times that decision to let the world into your home is a big and difficult one. The internet and those behind keyboards aren’t always kind. Sharing your child takes true strength and if you didn’t the world would know even less about children like him. You and your family are incredibly inspiring.

The CUBE and OOLER systems are two really cool gadgets that fit over the top of your mattress and use water to control the temperature of your bed. Right now Chili is offering my audience a really great deal. When you go to Chilisleep.com/findyourrare20, you can get 20% off the CUBE all sleep systems with findyourrare20. I hope you’ll check out Chili and see why I love their products so much.

Support the show

Stephanie was born with Cystic Fibrosis, a genetic disease that primarily leads to irreparable damage of the lungs. In spite of the considerable challenges, Stephanie continued her successful career as a designer all while being a devoted wife and loving mother. Unfortunately, CF started to have a greater impact on her life, forcing her to leave her career so that she could focus on her health. Through much introspection and painful self-acceptance, Stephanie made the courageous decision to begin sharing her story, reaching thousands through her platform and has made profoundly impactful changes on the lives of others living with CF. After a battle with an unrelenting pneumonia in 2019, Stephanie learned of a new "miracle medicine" that became available in the US. Unfortunately, this drug is not available in Canada, but this did not deter Stephanie. Stephanie was interviewed by local and national news stations; she reached out to her local members of government and even wrote to each executive of the pharmaceutical company. All that effort paid off when she learned that she was granted Compassionate Care by the manufacturer in January 2020, literally saving her life. Through unwavering faith and tireless effort, Stephanie was able to make her dreams a reality.

After this personal victory, Stephanie continued her advocacy work to help other CF patients fight for their right to breathe. Together with 3 CF patients that were fighting for their lives and the parent of a CF patient, Stephanie co-founded the volunteer advocacy group called CF Get Loud. The team’s mission is to elevate patients' stories; empowering them to use their voices and educate families on the barriers that are blocking the accessibility of innovative medicine. Today, the movement has over 4300 members and is growing. Together, they continue to fight to save the lives of 4400 Canadians.

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Connect with Stephanie
@rosielifewithgrey
@cfgetloud
www.cfgetloud.com
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The CUBE and OOLER systems are two really cool gadgets that fit over the top of your mattress and use water to control the temperature of your bed. Right now Chili is offering my audience a really great deal. When you go to Chilisleep.com/findyourrare20, you can get 20% off the CUBE all sleep systems with findyourrare20. I hope you’ll check out Chili and see why I love their products so much.

Support the show

Hey peeps! It was just Kristine this episode and I am back this week again hosting solo but we have another great episode for you today as I have the pleasure of sitting down with Orah Lasko who is the mother of Luke; Luke has a rare genetic disorder syndrome called Hao Fountain syndrome. As with to many of these rare genetic disorders Jake is among the ultra-rare with only 73 older cases known in the world. As you all know there is so much that goes into being a rare family so let's dive right in and hear from someone who knows best

I advocated for my son for over nine months before he finally got his rare disease diagnosis. I want to create awareness of his disease but also teach people how important it is to be your child’s advocate and always push for answers.
Connect With Orah:
@orahlasko and also the USP7
(Hao-Fountan Syndrome) foundation website usp7.org

The CUBE and OOLER systems are two really cool gadgets that fit over the top of your mattress and use water to control the temperature of your bed. Right now Chili is offering my audience a really great deal. When you go to Chilisleep.com/findyourrare20, you can get 20% off the CUBE all sleep systems with findyourrare20. I hope you’ll check out Chili and see why I love their products so much.

Support the show

The CUBE and OOLER systems are two really cool gadgets that fit over the top of your mattress and use water to control the temperature of your bed. Right now Chili is offering my audience a really great deal. When you go to Chilisleep.com/findyourrare20, you can get 20% off the CUBE all sleep systems with findyourrare20. I hope you’ll check out Chili and see why I love their products so much.