Raising Rare

This episode is a call to action, an opportunity to seek out available resources, and another connection to an amazing rare parent striving to make the rare community better.

Sarah Spear is a rare mama who recognized a need in the community. After doing some market research, she determined that having a database available to the rare community showcasing businesses that are disability friendly, accessible and offered top notch services would save time and energy but also bad experiences. Empowered Together does just that.

We not only encourage but also challenge our listeners to go to empoweredtogether.us to signup and leave at least one review. Sarah needs your help to make this a success for the rare community.

Life with a rare disease changes everything for parents.

What is the cost of stress?

What is the cost of scheduling everything?

What is the cost of explaining your situation...again?

What is the cost of one more thing?

On this episode of Raising Rare our cohosts have the opportunity to share the costs of Rare Diseases. Those costs reach so far beyond finances. Brittany and Sanath really dig into the impact that raising children with a rare disease has had on their relationships, their decisions, their mental health, and so much more. This episode is an opportunity to start conversations and raise awareness to how costly rare diseases really are on all aspects of life.

Dillon Loomis- Head is a dear friend to Salem Oaks, a mental health advocate, a clinical trial participant, and a Friedreichs Ataxia Research Alliance Ambassador. The Salem Oaks team met Dillon a number of years ago and are thrilled to have him join the hosts of Raising Rare on this emotional episode to discuss his life experiences, clinical trial participation, and what it’s like living with FA (Friedreichs Ataxia). Dillon emotionally discusses his motivation for participation in clinical trials is the obligation to feel that this is how he can move forward research and can do better with his life.  

Mental Health advocacy has always been a focus and interest of Dillon’s. In this episode he discusses therapy, new endeavors to deal with his own mental health and emotions as well as stigmas around engaging in treatment for mental health including his own. He also touches on the importance of not only connecting with his own FA community as well as finding a therapist that understands his specific situation but also the lack of mental health research in the FA and rare disease community.

Dillon talks with the hosts about the new release of a treatment for FA and what his decision will be about taking it. This episode is emotional, inspiring, and really takes the decisions about treatment much deeper. We are honored to share this episode with you for Mental Health Awareness Month. This insightful patient experience and how Dillon is able to connect with our caregiver hosts is worth the listen and sharing with others.

Cristol Barrett O’Loughlin, founder of ANGEL AID CARES, was a caregiver to 3 of her brothers early in her life; now she works to care for caregivers. Cristol is focused on the mental health and wellness services of caregivers within the rare disease community, her lived experience created a passion to help. In this episode Cristol talks about the grief she has experienced in her life, not just that of loss, but also the grief of what she thought her own life was going to look like.

Angel aid is focused on providing the daily relief a caregiver may need. Daily relief can be achieved through communications that may be encouraging people to take care of themselves (sleep more, eat well, take time for reflection, and increased mindfulness). Angel Aid also offers weekly and monthly support groups, as well as in person experiences such as wellness retreats. Angel Aid has developed the Raregivers Emotional Journey Map, a cycle of hope and grief for caregivers, patients, and professionals. We challenge you to find where you are on the journey map and tag @angelaidcares on social media, or even just share this with your loved ones or friends.

“We are stronger together as a community, there’s enough shared experiences and there’s enough shared science, that if we work together we are going to impart and bring a much more accelerated change.”

https://www.facebook.com/angelaidcares

Later this year we will be talking to Kacy Wyman and her Dad, Tim. Kacy was diagnosed with Cystinosis when she was very young and is now in college. Her family has given her more than just support. You will need to listen to find out more. For now, use May 7 to raise the awareness of cystinosis and support the research efforts to find find improved treatments.

www.cystinosis.org

Our goal is to provide a place where patients and parents can express their lived experience to provide hope and guidance to others. Our guests’ experiences vary widely and do not necessarily reflect the views and opinions of Salem Oaks or Raising Rare. 

Patrick Girondi is an author, songwriter, singer, founder of gene therapy company, but most importantly a father. He started his adult life as a high school dropout, joined the US Air force, worked on the docks, joined board of trade, and has now become a founder and CEO.  His son has a rare disease called beta-thalassemia. Patrick moved to Italy for his son’s treatment, a moved that allowed the money that was going to be needed for experimental treatment to instead be used for a treatment center. 

In the small town in Southern Italy where Patrick now lives, there is a bird that cannot take flight on its own, it requires the help of a tall building or a passerby throwing it as high in the air as it can for it to keep going. Like many rare families, and the rondone, Patrick has had the help of many people along his journey that have given him (and his son) a second chance and have allowed them to keep going.

Flight of the Rondone by Patrick Girondi

No one wants a phone call from the nurse at their children’s school. In the fall of 2020, Megan received that call and was told that her daughter, who previously showed no symptoms, had a seizure and was being taken by ambulance to the hospital. After a whirlwind of tests and doctors and not being sure what any of it meant or what was going on, they finally received news. Megan’s daughter had 2 lesions that were 2 centimeters long pressing against her motor strip. They were told that this was genetic, meaning that due to her daughters being identical twins, they both had it.  

After leaving that appointment she battled with how to tell her other daughter her new diagnosis but only a month later she started exhibiting symptoms as well and needed brain surgery as well. Megan quickly realized the importance of advocating for her daughters, but also made the choice to teach them how to manage, advocate, and speak for themselves within their treatment, a responsibility that not all 18 year olds (without a brain injury) are capable of.  

Megan is a rare mama to two 18 year old daughters that have been diagnosed with Familial Cerebral Cavernous Malformation (FCCM), and a teenage son that is a freshman in High School. Listen to the episode to hear more about her journey, how she has handled the changes in her families life, and how her career has changed because of it.

Raising Rare is so excited to share this episode with you. Susan Geoghegan is an amazing mom of two rare babies given the challenge in life of Mitochondrial Disease effecting the FBXL4 gene.  

Susan’s journey into parenthood was not what she had planned, but as a business owner and wedding planner she soon learned that she was going to have to plan things in a much different way and pivoting always had to be an option. 

In 2016 Susan was experiencing a wonderful first pregnancy that quickly took a turn as she developed pre-eclampsia soon after starting the third trimester. As Susan was starting to stabilize they realized that her unborn daughter was crashing and needed to be brought into this world through an emergency c-section at 33 weeks. She was tiny even for a pre-mie and spent the next 77 days in the NICU. During her stay Susan and her husband were given the news that their beautiful baby had a Mitochondrial disease that effects FBXL4 gene and she was only the 31st documented case worldwide, but also that their was a 25% chance of this being passed to any future children as well.  As a family it was decided very early on that those 2-5 projected years would be the best possible, and would be a life of impact. In 2019, Susan and her husband welcomed their sweet son Benji to the world, his diagnosis came much earlier as they had down genetic testing prior to birth. 

Lorelie passed in July of 2021 after coming down with a common headcold and a realization (and fear) of how fragile their health is as a family. Susan now experiences anticipatory grief as she sees signs in Benji of his declining and things that she recognizes happening with Lorelie that at the time they just believed was common due to her age. For Susan, therapy has helped with the grief but is an ongoing process in grounding and learning.

Susan has truly taken on her promise to have Lorelie’s life be one of impact and is truly giving back to other caregivers and the rare community. Not only do they raise money for current research at CHOP on FBXL4 gene, but she also started her own podcast, When Autumn Comes, and a foundation, The Apricity Hope Project. Susan’s podcast has helped her connect with moms of rare kiddos but also bereaved moms as well. Both her podcast and foundation offer hope to caregivers and help shine a light for them when they are in the darkest parts of their journey. In the first 6 months as an organization, The Apricity Hope Project has sent 75 care packages (described as a package filled with items that you would expect to receive if your best friend was the one sending it), and offers hospital go bags filled with everything you might need to survive an unexpected hospital stay as well as some new and exciting projects that are just getting started.

Susan would love to connect, please feel free to check out her website, podcast, or reach her by email.

https://apricityhope.org/

https://apricityhope.org/when-autumn-comes-podcast/

[email protected]

On this episode of Raising Rare, we have the opportunity of talking with Jamas LaFreniere the father of a daughter with Glycogen Storage Disorder Type 1B. Jamas discusses their diagnostic journey and how it may be different from many other rare disease families, even those with the same disorder, his disbelief in what the treatment option is and hopes for a cure. Jamas and our hosts offer their experiences with a broad range of topics, public access to mouse models, drug repurposing, strict diets, transitioning to school and how different monitoring systems offer a bit of security in these new situations. Jamas also discusses the quality of life potential for GSD1B patients and the adult population that they now have a connection with.

Jamas started Sophie’s Hope to share Sophie’s story with the world but also as a sort of patient support group for other families in the community looking for a place to connect. Jamas is also the founder of CureGSD1B, his second non-profit. He talks with Sanath and Brittany about the importance of creating an umbrella organization to bring everyone together and give doctors and patients a place to really learn more. 

Welcome back to Season 4 of Raising Rare.  

It’s great to be back as co-hosts and talk about changes in our lives, holiday struggles, and hopes for this year. We are all looking forward to new adventures, new opportunities, and new experiences as families, community members and political candidates.

Sometimes just being back with good friends, who you will hopefully FINALLY meet in person this year, and a good conversation is all you need to create excitement for what is to come. 

Reach out to Brittany to get the ordering information for Everly Merch, 15% of the proceeds will be going to the Ronald McDonald House in Rochester.