Supporting your child with Trisomy 18 (Edwards Syndrome):A Guide for Parents

Parenting a child with Trisomy 18, also known as Edwards Syndrome, can present numerous challenges, particularly in managing their medical needs. As a caregiver, you may feel overwhelmed and uncertain as you navigate their healthcare journey. We understand these difficulties and are here to offer our support to help you through this process.

To assist you, we have developed a comprehensive list of specialists who can provide valuable and critical support for your child’s unique situation. While this list is not exhaustive, it includes the most commonly engaged specialists who deliver high-quality care to children with Trisomy 18. It’s important to remember that every child’s situation is unique, and additional specialists may be necessary to address specific needs.

Please know that you are not alone in this journey. We empathize with your challenges and are committed to providing constant support. Our team, along with a community of families, is here to join you every step of the way.

Here are descriptions of various specialists involved in the care of children with Trisomy 18/Edwards Syndrome:

1. **Obstetrician**: Specializes in caring for women during pregnancy, delivering babies, and providing postnatal care.

2. **Maternal Fetal Medicine (MFM)**: Provides care for complicated pregnancies or women who are at high risk, offering specialized monitoring and treatment.

3. **Neonatologist**: Diagnoses and provides specialized care for newborns with severe birth defects, illnesses, or injuries. Works with obstetricians during pregnancy if a congenital defect is detected.

4. **Cardiologist**: Specializes in diagnosing and treating heart and blood vessel conditions.

5. **Cardiothoracic Surgeon**: Performs surgery on organs in the chest, including the heart, lungs, and esophagus.

6. **Pulmonologist**: Specializes in diagnosing and treating respiratory system (lung) conditions.

7. **Nephrologist**: Focuses on diseases and disorders of the kidneys.

8. **Otolaryngologist (ENT)**: Specializes in diagnosing and treating conditions of the ears, nose, and throat.

9. **Immunologist**: Diagnoses, treats, and prevents disorders of the immune system.

10. **Audiologist**: Specializes in hearing and balance disorders.

11. **Endocrinologist**: Treats disorders related to glands and hormones, such as thyroid issues, diabetes, growth disorders, and metabolic problems.

12. **Gastroenterologist (GI)**: Diagnoses and treats diseases of the digestive system.

13. **Ophthalmologist**: Treats eye conditions and diseases.

14. **Urologist**: Treats disorders of the urinary tract system and male reproductive organs.

15. **Hepatologist**: Diagnoses and treats liver, pancreas, gallbladder, and bile duct conditions.

16. **Interventional Radiologist (IR)**: Uses imaging techniques to guide medical procedures for diagnosing and treating various conditions.

17. **Orthopedist**: Diagnoses and treats conditions of the bones, joints, and muscles.

18. **Geneticist**: Studies genes and hereditary factors, providing insights into genetic conditions.

19. **Infectious Disease Specialist**: Diagnoses, treats, and prevents diseases caused by bacteria, viruses, fungi, or parasites.

20. **Oncologist**: Diagnoses and treats cancer.

21. **Sleep Specialist**: Diagnoses and treats sleep disorders.

22. **Dermatologist**: Specializes in skin disorders.

23. **Neurologist**: Diagnoses and treats brain and nervous system disorders, including conditions affecting the brain, spinal cord, and nerves.

24. **Neuro-ophthalmologist**: A neurologist specializing in eye disorders related to the nervous system.

25. **Epileptologist**: A neurologist focusing on epilepsy and seizure disorders.

26. **Nutritionist**: Uses nutrition science to promote wellness and health.

27. **Dietitian**: Identifies and treats disease-related malnutrition and provides medical nutrition therapy.

These specialists collaborate to provide comprehensive care tailored to the unique needs of children with Trisomy 18, ensuring they receive the best possible medical support.

**Specialized Therapists for Trisomy 18 Patients**

For parents of children with Trisomy 18, understanding the roles of specialized therapists is crucial in providing comprehensive care. These professionals offer targeted interventions to address the unique developmental and medical challenges associated with Trisomy 18, ensuring the best possible outcomes for your child.

  • Speech Therapy (Speech-Language Pathologists – SLPs): SLPs assess, diagnose, and treat speech, language, voice, and swallowing disorders. They help improve articulation, language skills, fluency, and voice quality and provide training in alternative communication methods and safe swallowing techniques.

  • Physical Therapy (Physical Therapists – PTs): PTs help patients recover from injuries, manage pain, and improve mobility. They create individualized exercise plans, provide manual therapy, and educate patients on movement and exercise to restore function and prevent further injury.

  • Occupational Therapy (Occupational Therapists – OTs): OTs assist patients in developing, recovering, and maintaining daily living and work skills. They focus on enhancing fine motor skills, and cognitive abilities, and adapting environments to improve independence and quality of life.

Emma, a Trisomy 18 child during Occupational Therapy
Emma in Occupational Therapy, Mosaic Trisomy 18