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  • Ep. 35 Abby and Amy's 22q Story

    Ep. 35 Abby and Amy's 22q Story
    2024/02/07

    Abby is a fraternal twin and within her first few months of life her mom Amy could tell that something was a little different with Abby but she didn't know what. She had speech delays, gross motor delays but just didn't know what it could be. Then at the age of 7 Abby was going to get her tonsils removed with the doctor, who happed to have studied 22q, was able to look at Abby and tell that she had 22q. That is when she was sent for genetic testing which then confirmed his hypothesis.


    This episode was recorded on May 17, 2023


    •••••••••••••••••••


    Within this episode we discussed:


    • acid reflux

    • speech delays

    • gross motor delays

    • 7 had her tonsils removed and the doctor had studied with doctor who discovered 22q and suspected that Abby had VCSF.

    • Genetic testing confirmed that she had 22q.

    • Syracuse specialist to do a series of tests

    • Pharyngeal flap speech

    • Scoliosis

    • Spinal fusion surgery at CHOP
    • ⁠22q Center Children's Hospital of Philadelphia⁠



    If you would like to contact the 22q Podcast with any questions, comments or if you are interested on being on this podcast email Becky at 22qpodcast@gmail.com. Don't forget to subscribe and share this podcast to help raise awareness about 22q. And never forget 22q family that YOU are not alone.

    ⁠Instagram - @22q.podcast⁠

    ⁠Facebook - @22qpodcast⁠

    ⁠YouTube - @22qpodcast⁠

    Email - 22qpodcast@gmail.com

    #22qpodcast
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    28 分
  • Ep. 34 Mikey DeRaud drumming through life with 22q

    Ep. 34 Mikey DeRaud drumming through life with 22q
    2024/01/29

    When Mikey was younger he didn't know he even had 22q until his open heart surgery at the age of six. He started to notice that he had health issues that his friends and classmates didn't have to contend with. Mikey never let his diagnosis hold him back and continued to follow his passion for music, especially playing the drums. Picking up his first set of drum sticks at the age of four, Mikey realized he had a superpower. He was able to play the drums by ear and did not have to read sheet music. His passion for drums landed him spot in his current band named Hills Block View. Check out the links below to listen.


    This episode was recorded on May 8, 2023


    •••••••••••••••••••


    Within this episode we discussed:


    • BAND - Hill Blocks View - Website
    • Instagram @hillblocksviewofficial
    • Facebook @hillblocksviewofficial
    • YouTube Page @hillblocksviewofficial
    • Spotify
    • Apple Music

    • Knee difficulties

    • We Got The Beat - Drum Class

    • Roosevelt School For The Arts, Fresno, CA

    • Giants Baseball Fan @sfgiants

    • Bullying

    • CHOP - 22q Magazine Cover Model - 22q11.2 Deletion Bringing the 22q11.2 Deletion Into the 21st Century June 22-25 2000. The Children's Hospital of Philadelphia. @childrensphila

    • 22q Center Children's Hospital of Philadelphia

    • Mikey on Instagram @mikeyplaysdrums


    If you would like to contact the 22q Podcast with any questions, comments or if you are interested on being on this podcast email Becky at 22qpodcast@gmail.com. Don't forget to subscribe and share this podcast to help raise awareness about 22q. And never forget 22q family that YOU are not alone.

    Instagram - @22q.podcast

    Facebook - @22qpodcast

    YouTube - @22qpodcast

    Email - 22qpodcast@gmail.com

    #22qpodcast
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    31 分
  • Ep. 33 Shelby and Stacy - Spreading love one quilt at a time

    Ep. 33 Shelby and Stacy - Spreading love one quilt at a time
    2024/01/23

    Shelby is an adult living with 22q and has a passion for sewing. She began sewing at the age of 11 and has been sewing every since. Making quilts for individuals with 22q and mailing them across the country. She has made over 43 quilts to date and doesn't intend on stopping any time soon.


    Her mom, Stacy also shared how scary and challenging Shelby's first few years of life were. Shelby had genetic testing done around the age of one but nothing came back positive. So at two and half years old, she sent to a clef and pallet team, who were able to diagnose her and test her for 22q. Stacy remembers receiving that phone call that confirming that her daughter had 22q. As she hung up the phone she felt numb and crushed all at once. She knew she had to learn Shelby and what this new diagnosis meant for her baby girl.


    Links:

    Shelby's Stories FB: https://www.facebook.com/groups/450865518418577/?ref=share_group_link


    22q Postcard Swap: https://www.facebook.com/groups/270932664985684/?ref=share_group_link


    Amazon Wish List: https://www.amazon.com/hz/wishlist/ls/1K2FHPHP6UIZM?ref_=wl_share


    Walmart Wish List: https://www.walmart.com/registry/ER/f426d3b8-347b-42b8-8a9d-5240a9b99bb8


    ••••••••••••••••••• 


    Within this episode we discussed:


    • Teaching Shelby to advocate for herself

    • 22q family foundation

    • Nationwide National Confrence for 22q

    • 2 sinus surgeries

    • 2 hernia repairs

    • Left Knee Surgery - patella instabilities

    • Hypoparathyroidism

    • “I have 22q but 22q doesn’t have me.” -Shelby
    • ⁠⁠⁠⁠
    • Shelby on Instagram @


    If you would like to contact the 22q Podcast with any questions, comments or if you are interested on being on this podcast email Becky at 22qpodcast@gmail.com. Don't forget to subscribe and share this podcast to help raise awareness about 22q. And never forget 22q family that YOU are not alone.

    Instagram - @22q.podcast

    Facebook - @22qpodcast

    Email - 22qpodcast@gmail.com

    #22qpodcast
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    39 分
  • Ep. 32 Brooklyn Caruthers and Noah's 22q Story

    Ep. 32 Brooklyn Caruthers and Noah's 22q Story
    2023/12/07
    After a typical pregnancy and birth, Noah came into the world with no cause for concern. That all changed at around 3 weeks old when Noah started to get sick. He developed continuous repertory issues like RSV and pneumonia. He continued getting sick every month and at 19 months old he was scheduled to have his first set of ear tubes placed but was quickly stopped after the doctors found that he had a severe Vascular Ring that they needed to address first. As Noah grew he continued to have different health conditions appear. This caused Brooklyn to question if something else was going on with her son's health. Noah was finally approved for genetic testing at 6 years old and that is when it was confirmed that he had 22q. This diagnosis however did not cure his ongoing resperatory issues. That was corrected after a 24 day stay at the hospiatl when an ENT did another routine chest scope and found a tiny pin hole size opening leading to his lungs. This sealed up the hole and Noah's respatory issues diapered. •••••••••••••••••••  Within this episode we discussed: Constantly sick with respiratory Issues, RSV, Pneumonia Vascular Ring Ear tubes and adenoids removal cyst in his jaws   division of the left subclavian artery Patricia Dubin - ENT Laryngeal Cleft If you would like to contact the 22q Podcast with any questions, comments or if you are interested on being on this podcast email Becky at 22qpodcast@gmail.com. Don't forget to subscribe and share this podcast to help raise awareness about 22q. And never forget 22q family that YOU are not alone. Instagram - @22q.podcast Facebook - @22qpodcast Email - 22qpodcast@gmail.com #22qpodcast
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    57 分
  • Ep. 31 Meet Johan, a sweet 15 year old boy with 22q who is searching for his forever family - with Brady Murray

    Ep. 31 Meet Johan, a sweet 15 year old boy with 22q who is searching for his forever family - with Brady Murray
    2023/11/02

    Brady Murray is the President and Founder of a non-profit called RODS Heroes which helps orphan children who have unique challenges find their forever family. In this episode Brady shares one particular orphan named Johan. Johan is a sweet, quiet-natured fifteen year old boy who has been in an orphanage since he was 6 years old and will be aging out of adoption by the end of November 2023. Brady hopes to find a family for Johan soon and give him a chance to live a full life of love and reach his highest potentials. Johan deserves the chance to shine his light outside of the walls of an orphanage.


    Brady also shares his personal perspective as a dad and his son Ridge, who was diagnosed with 22q at the age of 2. He shares how challenging it has been navigating Ridge's "invisible diagnosis" of 22q compaired to his other son's diagnosis of Down Syndrome. Brady used a beautiful analogy saying when he found out about his other son's diagnose of Downs Syndrome it felt like someone switched on a light and he dove head first into that diagnosis and becoming a special needs parent. But compared to Ridge's 22q diagnosis, for Brady it has felt more like a slow sunrise that he is beginning to learn more about 22q with time.


    ••••••••••••••••••• 


    Within this episode we discussed:


    • RODS Heroes - Non Profit Organization - www.rods.org


    If you would like to contact the 22q Podcast with any questions, comments or if you are interested on being on this podcast email Becky at 22qpodcast@gmail.com. Don't forget to subscribe and share this podcast to help raise awareness about 22q. And never forget 22q family that YOU are not alone.

    Instagram - @22q.podcast

    Facebook - @22qpodcast

    Email - 22qpodcast@gmail.com

    #22qpodcast
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    44 分
  • Ep. 30 Jen Shannon and Hazel's 22q Story - Esophageal atresia & Foker process

    Ep. 30 Jen Shannon and Hazel's 22q Story - Esophageal atresia & Foker process
    2023/08/30

    At 36 weeks Jen couldn’t feel her baby moving and went to the nearest hospital. During the ultrasound they found out that her babies heart rate had started to decline and Jen was rushed into an emergency csection. Hazel was delivered and soon after found out that she had Esophageal atresia, which was later repaired at Boston Children's Hospital using the Foker Process.


    ••••••••••••••••••• 


    Within this episode we discussed:


    • Boston Children's Hospital - What is the Foker process?


    • What is the Foker process?
    • ⁠
    • Esophageal atresia - Foker process - Pediatric Playbook⁠

    • The journey of continued grief

    • Worrying about who will fight for our children once we no longer can


    If you would like to contact the 22q Podcast with any questions, comments or if you are interested on being on this podcast email Becky at 22qpodcast@gmail.com. Don't forget to subscribe and share this podcast to help raise awareness about 22q. And never forget 22q family that YOU are not alone.

    Instagram - @22q.podcast

    Facebook - @22qpodcast

    Email - 22qpodcast@gmail.com

    #22qpodcast
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    47 分
  • Ep. 29 Mother finds out that she also has 22q - Robin Gramke and McKenna's 22q Story

    Ep. 29 Mother finds out that she also has 22q - Robin Gramke and McKenna's 22q Story
    2023/08/21

    Robin and her husband had a beautiful baby girl named McKenna who was quickly diagnosed with 22q. It was recommended by the genetics team to have their entire family tested. After a few months the results came back that her husband and other daughter's test came back negative but Robin tested positive for 22q. She had been living her who life with this deletion syndrome and had no idea. Throughout this episode Robin shares her perspective of what it was like being given this diagnosis at 33 and how she has been navigating her daughters medical and school challenges.


    ••••••••••••••••••• 


    Within this episode we discussed:


    • Few hours after birth started shaking due to low calcium and had a seizure.

    • Genetic testing confirmed that Makena and Robin both had 22q

    • First open heart surgery 7 days old.

    • Conduit malfunction, which needed another open heart surgery.
    •  
    • NGTube

    • 18 months needed Oxygen

    • Bronchoscopies 

    • GTube

    • Aortopexy heart surgery

    • School and placement in a typical classroom or Self Contained


    If you would like to contact the 22q Podcast with any questions, comments or if you are interested on being on this podcast email Becky at 22qpodcast@gmail.com. Don't forget to subscribe and share this podcast to help raise awareness about 22q. And never forget 22q family that YOU are not alone.

    Instagram - @22q.podcast

    Facebook - @22qpodcast

    Email - 22qpodcast@gmail.com

    #22qpodcast
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    41 分
  • Ep. 28 Defining trauma, healing & moving forward with psychotherapist, Larry Shushansky, LICSW

    Ep. 28 Defining trauma, healing & moving forward with psychotherapist, Larry Shushansky, LICSW
    2023/08/14
    Trauma is a response to an intensely stressful event(s) or situations. The effects can be long-lasting, but healing is possible. For todays episode I invited Psychotherapist, Larry Shushansky to answer all of our questions around trauma. With over 45 years as a physiotherapist Larry has helped hundreds of individuals process and navigate past traumatic experiences. Within the 22q community trauma is a common occurrence so I wanted to ask Larry how we can recognize trauma and begin the healing process. 70% of adults in the U.S. have experienced some type of traumatic event at least once in their lives. Trauma is less about the event and more about how you responded. But some events are more likely to lead to trauma than others. •••••••••••••••••••  Within this episode we discussed: Define Trauma.What are the mental and physical effects of trauma?Causes and types of trauma.Emotional trauma: The feelings traumatic events leave us with. Characterized by feeling unsafe in one’s body, emotional trauma can alter our brain function and lead to an overarching sense of hopelessness.Complex trauma: A series of traumatic events that can have a lasting impact.Secondary trauma. Also known as vicarious trauma, secondary trauma refers to being a witness to trauma. Witnessing a traumatic event can impact your emotional health and is deserving of support, empathy, and compassion. What mental health conditions are associated with trauma?How to heal from trauma? ⁠Some book recommendations for understanding and healing trauma include:“The Body Keeps the Score” by Bessel van der Kolk, MD“It Didn’t Start With You” by Mark Wolynn“Healing the Fragmented Selves of Trauma Survivors: Overcoming Internal Self-Alienation” by Janina Fisher, PhD“Trauma and Recovery” by Judith Lewis Herman, MD“The Complex PTSD Workbook” by Arielle Schwartz, PhD“Trauma and the Body” by Pat Ogden, PhD“What Happened to You? Conversations on Trauma, Resilience, and Healing” by Bruce D. Perry, MD, PhD, and Oprah Winfrey PTSD may increase your risk of self-harm. If you’re considering self-harm or suicide, you’re not alone. Help is available right now: Call a crisis hotline, such as the National Suicide Prevention Lifeline at 800-273-8255.Text HOME to the Crisis Text Line at 741741. If you would like to contact the 22q Podcast with any questions, comments or if you are interested on being on this podcast email Becky at 22qpodcast@gmail.com. Don't forget to subscribe and share this podcast to help raise awareness about 22q. And never forget 22q family that YOU are not alone. Instagram - @22q.podcast Facebook - @22qpodcast Email - 22qpodcast@gmail.com #22qpodcast
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    55 分