Prenatal Screenings and Managing Health Conditions

Hi Mamas,

In our last blog, we chatted about some important yet many times overlooked aspects of pregnancy and motherhood. One of those aspects is prenatal screenings for various chromosomal disorders, including common conditions beyond Down Syndrome. We discussed how one condition in particular, 22q11.2 deletion syndrome, is often overlooked for how common it is (you can check out that blog here to learn more about the condition). I wanted to touch on some of the ways you can prepare for and successfully  navigate this journey if you are affected by it. Because as you know, it takes a village.

Managing Health Challenges:

  • Collaborate with Specialists: Building a healthcare team with specialists dedicated to helping patients and families affected by chromosome 22q11.2 deletion syndrome is crucial. This team may include genetic counselors, pediatricians, cardiologists, immunologists, speech therapists, and psychologists.
  • Regular Check-Ups: Consistent medical monitoring can help ensure early detection and optimized treatment strategies including medical and surgical interventions in the newborn period. Be proactive in scheduling and attending appointments.
  • Therapies and Interventions: Occupational therapy, speech therapy, and behavioral interventions can significantly help children with developmental and behavioral challenges.
  • Medication Management: Some children may require medications to manage specific symptoms or conditions. Work closely with healthcare providers to find the right medication and dosage.

Parenting a child with 22q11.2 deletion syndrome comes with its unique set of challenges. Here are strategies to help you navigate this journey:

  • Seek Support: Joining support groups, like the International 22q11.2 Foundation (, or connecting with other parents who have children with 22q11.2 deletion syndrome can provide invaluable emotional support and practical advice.
  • Educate Yourself: Knowledge is empowering. Learn as much as you can about the condition, available treatments, and educational resources.
  • Advocate for Your Child: Be your child’s strongest advocate, ensuring they receive the appropriate care and educational support they need to thrive.
  • Self-Care: Caring for yourself is vital to being an effective caregiver. Make time for self-care activities that recharge you.
  • Celebrate Achievements: Celebrate your child’s milestones and accomplishments, no matter how small. These moments are worth cherishing.

Parenting a child with 22q11.2 deletion syndrome can  bring cherished opportunities for growth, resilience, and, of course, immeasurable joy and love. By managing health challenges proactively and seeking parental support, you can provide your child with the best possible care and a nurturing environment in which they can flourish. Remember that you’re not alone on this journey, and there are resources and communities ready to offer guidance and support along the way.


Medical Disclaimer:
The information provided in this blog is intended for general informational purposes only and should not be considered as a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your healthcare provider or qualified medical professional with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read in this blog.

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