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Raising Rare

Raising Rare

著者: Raising Rare
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Imagine the excitement of becoming a new parent and then within hours finding out your child has a serious developmental disorder. That is exactly where Sanath Kumar Ramesh found himself in the summer of 2018. One year later, on his son’s first birthday, they found out that their son, Raghav, had an extremely rare mutation of the GPX4 gene. At the time, doctors told them that Raghav may be the only one on the planet with this genetic variant who had lived beyond one month of life. The prognosis is completely unknown. They were alone. They were scared. And then they went into action. And now they want to share their story. Every couple of weeks Raising Rare will give you an update on baby Raghav as he grows up. We will also share how Sanath and his wife Ramya are driving toward a treatment for their son. We will explore the science that Sanath is initiating, their efforts to fund that research, and the people they meet along the way. We will also hear how the family adjusts to challenges and changes that they are faced with. Most importantly, we will share the wisdom they gain along the way so that other Rare Parents can learn from their steps and missteps. We don’t know where this story will go. We do know we want you to join us for the journey.Copyright 2020-2024 Salem Oaks LLC 人間関係 子育て 生物科学 科学 衛生・健康的な生活 身体的病い・疾患
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  • Big Sister at Ronald McDonald House
    2025/07/22

    This season, you probably have heard Everleigh’s voice a little more often. It was this story that gave us the idea.

    In this short episode, we hear about one of the unexpected struggles that Brittany had to deal with earlier this year. Usually, Evie is the one in the hospital but this time, Brittany’s son Maverick was the patient. The remarkable thing is that this challenge turned into a wonderful opportunity for Evie to play the role of big sister at one of her favorite places – Ronald McDonald House.

    It really provides a glimpse into the joy of a child, no matter what the circumstances.

    We hope you enjoy it.

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    12 分
  • This is a Love Story - Jessica Fein
    2025/07/07

    “I am afraid there is something wrong with her brain”

    A mother’s intuition is often the first telltale sign of a rare disease. With the deep bonds that are built during pregnancy, there seems to be a connection between mom and kiddo beyond our understanding. But could this be true for an adopted child?

    Jessica Fein is proof that it can.

    Her adopted daughter Dalia was born in Guatemala. It was the second time she and her husband had adopted a child from the Central American country. As Dalia fell behind in developmental milestones, Jessica became very concerned. She kept pushing for answers. Eventually Dalia was diagnosed with MERRF (myoclonic epilepsy and ragged red fibers) syndrome.

    Jessica’s book “Breath Taking: A Memoir of Family, Dreams, and Broken Genes” is about Dalia’s life, the love between mother and child, and the power of leaning into any circumstances through that love. That is what Dalia taught her. Our conversation provides a glimpse into the writing of the book; the process, the pain, and the joy.

    This conversation really touched Brittany, and she said something beautiful, “We live our lives out loud through Everleigh every day.”

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    36 分
  • One Christmas Without Knowing
    2025/06/05

    “I am so thankful that we had that one Christmas without knowing…” Jill Wood.

    When Jill’s son Jonah was born, there was no sign that he was anything but adorable. However, at his 1-year visit, his pediatrician noted Jonah’s larger than normal head and several other symptoms. He connected the dots and ordered further testing. Eventually Jonah was diagnosed with Sanfilippo Syndrome or mucopolysaccharidosis type III (MPS III).

    Jill began connecting with other Sanfilippo families and eventually started a company to search for treatments. She found along the way that she could find support from willing researchers, win grants from the National Science Foundation, and even overcome language barriers to reach families around the world. She has made great progress and is very grateful for all the help she has received.

    As you can imagine, Jill is very energetic. Her story is inspiring and educational. Her main piece of advice to newly diagnosed parents, “Take a deep breath and calm down. Appreciate your child.”

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    41 分

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