Jaclynn Brown is a 36 years old woman from Manitoba, Canada where she and her partner run a busy Autobody Shop. She found out she was a carrier and patient with X-Linked lymphoproliferative syndrome (XLP) following her brother's diagnosis in 2019. Attempting the IVF route proved to be overwhelming and costly after much testing and finding out she has only one ovary. From there, Jaclynn and her partner decided the natural conception route would be their first step. Finding out she was pregnant and that her child was a boy affected with XLP, was devastating and they made the heart-wrenching decision to terminate their first pregnancy in November of 2020 at 16 weeks. A second attempt at growing their family yielded the same results, another male affected with XLP, and another termination at 16 weeks pregnancy in March of 2022. These horrible odds are not to be taken lightly, with an X-linked condition. Jaclynn and her family made these difficult decisions out of love because they didn't want to put a child through future pain and suffering with this condition. This is her story. As a disclaimer, this podcast series features sensitive topics. Understand that the opinions and topics do not express or represent the organizations personal feelings on any matter but are here to solely share the guest speaker's journey and life's experiences. These opinions and stories are theirs and theirs alone.
Sarah K. is a 40 year old photographer and barre instructor who is from Minnesota. For as long as she can remember she knew she was a carrier of ALD. When her and her husband were ready to have children, they looked seriously at their options and came to the tough and risky decision to start by trying to conceive naturally. After a few months, they found out that she was pregnant with a boy and around 13 weeks, they learned that he was, in fact, a boy with ALD. It was soul crushing. Sarah never questioned that termination was the right option for her, but she didn’t anticipate how hard it would be. After terminating her baby in September of 2010, her and her husband proceeded to make plans to expand their family through IVF-PGD knowing they did not want to go through that experience again. This is her story. As a disclaimer, this podcast series features sensitive topics. Understand that the opinions and topics do not express or represent the organizations personal feelings on any matter but are here to solely share the guest speaker's journey and life's experiences. These opinions and stories are theirs and theirs alone.
Kristy McCracken is an advocate and patient of an x-linked condition in the Urea Cycle Disorder family. Her official diagnosis is Ornithine Transcarbamylase deficiency, commonly referred to as OTC. Kristy is a member of many patient organizations for UCD and rare diseases and her biggest passion is being a mentor for those newly diagnosed or going through their own journey. Kristy terminated a pregnancy in 2017 after genetic testing confirmed it was a male with OTC and after concluding that her own life was at risk if the pregnancy continued. Kristy has since become a mother through adoption and is open with the entire experience. Her goal is to help other carriers and female patients never feel alone in this journey of rare disease and x-linked conditions. As a disclaimer, this podcast series features sensitive topics. Understand that the opinions and topics do not express or represent the organizations personal feelings on any matter but are here to solely share the guest speaker's journey and life's experiences. These opinions and stories are theirs and theirs alone.
Jessica Stephens is a 30 year old mum from Middlesbrough, United Kingdom (UK) who is affected with Ornithine Transcarbalmalyse, shortened as OTC Deficiency. Jessica lost her second baby, August, tragically to OTC deficiency when he was 3 days old in September 2020. It took around 9 months until she was diagnosed as a “carrier” of OTC. Jessica knew she still wanted to continue her family but with a 50% chance of passing on the gene variant again, she was unsure what to do. When she found out she was pregnant again in November 2021, she had a blood test to determine the sex of the baby, which confirmed he was a boy. She proceeded with a CVS to test the amniotic fluid and determine if her son was affected by OTC. Unfortunately, it was determined that her son did in fact have OTC deficiency as well. She decided that the kindest thing to do would be to end the pregnancy, as she couldn’t bare the thought of him suffering in pain like his older brother. He was born silently on January 16, 2022, his family called him Blake Arthur Stephens. This is their story. As a disclaimer, this podcast series features sensitive topics. Understand that the opinions and topics do not express or represent the organizations personal feelings on any matter but are here to solely share the guest speaker's journey and life's experiences. These opinions and stories are theirs and theirs alone.
Emma Bliss learned of her X-Linked Myotubular Myopathy carrier status the way many x-linked carriers do - by giving birth to a child with the condition after a healthy pregnancy and no family history. Caleb, Emma's second child, lived for 5 months in the NICU and was held and loved by his family the entire time. Emma is a mother of three and resides in New Hampshire with her husband, two kids and dog. After Caleb passed, knowing they wanted to grow their family, they sought the guidance of a genetic counselor. Laying all the odds and information on the table, they decided to try naturally and found out at 11 weeks, that they were carrying another baby boy affected with XLMTM. After a painful decision to terminate at 13 weeks, knowing they would never put another baby through what Caleb had been through, they decided that IVF and embryo testing might be the next course of action. While building a probe with a lab and completing all the costly preliminary IVF tasks, they found out that they were pregnant again with a baby girl naturally. Through the entire experience, Emma has learned that what might be the right path for one family, might be the wrong for another and that every single decision is personal. She shares that knowing all your options, even when faced with difficult and gut-wrenching decisions, is the first and largest step. This is her story. As a disclaimer, this podcast series features sensitive topics. Understand that the opinions and topics do not express or represent the organizations personal feelings on any matter but are here to solely share the guest speaker's journey and life's experiences. These opinions and stories are theirs and theirs alone.
Sarah Myatt is a single mom of 2, elementary music teacher, and classical singer from Nova Scotia, Canada. She found out she had Adrenoleukodystrophy in 2007 and inherited the variant from her mother, who had early onset disabling-symptoms. When wanting to start her family in 2008, Sarah decided she would go through genetic testing. In 2009 at 14 weeks, Sarah learned that her child was affected with ALD and made the difficult decision to terminate her pregnancy. Sarah is here to discuss her experience with genetic testing and TFMR in Montreal and Nova Scotia, Canada. This is her story. As a disclaimer, this podcast series features sensitive topics. Understand that the opinions and topics do not express or represent the organizations personal feelings on any matter but are here to solely share the guest speaker's journey and life's experiences. These opinions and stories are theirs and theirs alone.
Brittney is a 37 year old woman from Baltimore, Maryland. Her story goes back to November 2018 when she found out at 10 weeks into her pregnancy that she was a carrier for Fragile X. When she received this call, she had no idea what that was or what that would mean for her pregnancy. After meeting with a Genetic Counselor, she learned she was a mosaic - full mutation carrier and because her repeats were more than 200, her child would have a full expansion if they inherited her affected X. Two weeks after this meeting, she proceeded with a CVS, a procedure that tests the amniotic fluid to determine if the baby would be affected with Fragile X. 16 days later she received the life changing news that the baby was a boy and had inherited her full mutation and she moved forward with the termination a week later. This is her story. As a disclaimer, this podcast series features sensitive topics. Understand that the opinions and topics do not express or represent the organizations personal feelings on any matter but are here to solely share the guest speaker's journey and life's experiences. These opinions and stories are theirs and theirs alone.
Introducing "Taboo Talks" with Remember The Girls! For the first section of our series, we will discuss TFMR featuring personal memoirs from x-linked carriers who have faced these difficult decisions. As a disclaimer, this podcast series features sensitive topics. Understand that the opinions and topics do not express or represent the organizations personal feelings on any matter but are here to solely share the guest speaker's journey and life's experiences. These opinions and stories are theirs and theirs alone.
Interview with Lori Long and Shari Luckey, two female patients with {X-linked} Hemophilia B.
Interview with Katie Mears and Sonji Wilkes, two female patients with {X-linked} Hemophilia A.
Interview with Megan Dunleavy, a female patient with {X-linked} Alport Syndrome and current medical school student with a special interest in genetics and nephrology.
Interview with Janine Reed, a female patient with {X-linked} Alport Syndrome.
Interview with Afton DeLucca, a female patient with {X-linked} Alport Syndrome.
Interview with Cassie Smith, a female patient with {X-linked} Alport Syndrome.
Interview with Eve Hughes, a woman "carrier" with {X-linked} Norrie Disease.
Interview with Jillian Spencer, a woman "carrier" with {X-linked} Norrie Disease.
Reproductive family planning, genetic testing and screening options discussion with certified genetic counselor, Emily Goldberg with J.Screen. Emily has been certified by the American Board of Genetic Counseling since 2011. Her professional interests include education, teaching and mentoring genetic counseling students. She serves as an Instructor at the Albert Einstein College of Medicine and adjunct faculty at Sarah Lawrence College where she teaches embryology and reproductive genetics. J. Screen is a non-profit genetic education and screening program. Learn more at https://jscreen.org
Interview with Tania Rife and Joanne Ewing, two woman "carriers" of {X-linked} Aarskog Syndrome.
Interview with Michelle Erskine, a woman patient with {X-linked} Aarskog Syndrome. Michelle is the founder and CEO of The Aarskog Foundation.
Interview with four women patients + "carriers" of Duchenne Muscular Dystrophy (DMD): Amy Aikins, Betty Vertin, Jessica Fabus Cheng and Mindy Cameron.