Since the day Ben was born Kristine had this gut feeling that something was slightly different about her son. Whether it was his facial features being smaller, his reflux when he ate, constant eye infections, respiratory problems, ear infections, how small he was or how delayed he was with all of his developmental milestones. This prompted her to start seeking answers. Her pediatrician would dismiss her concerns and simply say, “all children are different.” But Kristine didn’t agree and spent 2 years trying to find a diagnosis. Finally, when Ben was 4 years old she received his genetic testing and learned that he had 22q. Once Kristine received this diagnosis she felt an unworldly peace. She was thankful to understand what all of these different symptoms could finally be attributed to. This was the beginning of Ben and Kristine’s 22q journey.
Throughout this episode Kristine shares her struggles with mental illness and the uncertainty of what Ben's life will look like once he grows up. She also shares how important it is try one more thing and don't make your mind up about your child.
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Within this episode we discussed:
- Atrial septal defect (ASD) is a hole in the heart between the upper chambers (atria). The hole increases the amount of blood that flows through the lungs.
- Two-vessel umbilical cord - Most babies’ umbilical cords have three blood vessels: one vein, which brings nutrients from the placenta to baby, and two arteries that bring waste back to the placenta. But a two-vessel cord has just one vein and one artery — that’s why the condition is also referred to as having a single umbilical artery. Many heart defect children have this.
- Velopharyngeal insufficiency (VPI) occurs when the back part of the roof of the mouth (soft palate) and the pharynx (throat) don't work together to make a good seal when your child is talking. This is often caused by a soft palate that is too short or muscles of the palate that do not work well.
- Strabismus, also known as hypertropia and crossed eyes — is misalignment of the eyes, causing one eye to deviate inward (esotropia) toward the nose, or outward (exotropia), while the other eye remains focused.
- Heart surgery- laparoscopically - The GORE® HELEX® Septal Occluder is an approved medical device indicated for the transcatheter closure of atrial septal defects (ASDs).
- Mental Health - Medication for hallucinations and delusions, generalized anxiety, obsessive compulsive disorder.
- Pharmacogenomics looks at how your DNA affects the way you respond to drugs. In some cases, your DNA can affect whether you have a bad reaction to a drug or whether a drug helps you or has no effect.
- Generalized neonatal hypotonia implies a pathologically decreased postural tone involving at least the extremities, trunk and neck occurring during the first month of life.
- Furlow Palatoplasty - to fix his EPI - Made his sleep apnea worse -This procedure involves a plastic surgical technique, which was traditional used for cleft palates, to lengthen and thicken the soft palate and realign abnormal placement of the palatal muscles in order to allow the palate touch the back of throat naturally.
- BOOK - Abilities In Me 22q
- BOOK - Donna Cuttler Landsman - 22q Special Education Advocacy Expert
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.
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