Potocki Lupski Syndrome (PTLS) Diagnosis, Next Steps for Parents:

Introduction:

Receiving a diagnosis of Potocki-Lupski Syndrome for your child can bring forth a range of emotions and questions. It's essential to gather information, seek support, and understand the steps ahead to ensure your child receives the best care and support possible.

Understanding Potocki-Lupski Syndrome (PTLS)

  • PTLS is a rare genetic condition caused by the duplication of a specific segment of chromosome 17 – including the Rai1 gene

  • Researchers now know the gene called Rai1 (Retinoic Acid Induced 1) is the specific gene responsible for the syndrome

  • Common characteristics include developmental delay, intellectual disabilities, speech delays, behavioral differences, and subtle physical features.

  • The PTLS HOPE Research Foundation specializes in supporting families affected by PTLS, offering resources, research updates, and avenues for collaboration.

Next Steps After Diagnosis

  1. Medical Support and Care: Connect with a team of healthcare professionals including geneticists, paediatricians, neurologists, and therapists experienced in working with children with PTLS (or other genetic syndromes) Regular check-ups and monitoring are essential.

  2. Early Intervention Programs: Explore early intervention services that cater to developmental needs. Occupational, speech, physical and feeding therapies can assist greatly in addressing specific challenges your child may face, while they are very young, and help them on their journey.

  3. Educational Support: Collaborate with educators and specialists to develop an Individualized Education Program (IEP) tailored to your child's unique needs. This plan can ensure they receive appropriate educational accommodations and support.

  4. Support Groups and Resources: Engage with the PTLS HOPE Research Foundation and the PTLS Family Support group on Facebook (find the direct link just below) - to connect with other families facing similar challenges. These groups will provide invaluable emotional support, advice, and resources.

 

Facebook - Potocki Lupski Family Support Group est, 2013.

(PTLS) Diagnosis: Next Steps for Parents (continued)

 Long-Term Planning and Support

  1. Ongoing Monitoring: Stay proactive with regular medical check-ups and assessments to track your child's progress and address any emerging concerns promptly.

  2. Transition to Adulthood: As your child grows, start planning for their transition to adulthood. Explore vocational training, independent living programs, and adult support services available for individuals with developmental disabilities.

  3. Financial and Legal Considerations: Look into financial assistance programs, government aid, and legal options available for families with children who have special needs. Estate planning and guardianship are crucial aspects to consider for the future.

  4. PTLS Research and Support: Stay informed about PTLS research initiatives led by the PTLS HOPE Research Foundation. Their dedication to advancing knowledge and potential treatments for PTLS offers hope for the community.

  5. Self-Care and Support: Remember to take care of yourself amidst the challenges. Seek support from family, friends, or professional counsellors to manage stress and maintain your well-being.

Receiving a PTLS diagnosis may feel overwhelming, but remember, you are not alone. Surround yourself with a supportive network, seek guidance from professionals, and take one step at a time. Your advocacy and dedication to your child's well-being, combined with the support of organizations like the PTLS HOPE Research Foundation, are invaluable in this journey.

Disclaimer : This resource sheet is meant to provide general guidance and should not replace advice from healthcare professionals, please only take medical advice from qualified healthcare professionals such as Doctors.