My child was just diagnosed.... now what???
Steps to take after receiving a 7q11.23 Duplication Diagnosis:
1. Register with Duplication Cares Organization and get connected with families from around the world sharing the same diagnosis. To register, click on the “Join Us” page. Membership is free with Duplication Cares.
- Connect with Duplication Cares – 7q11.23 on Facebook
- You can also register with the following International Rare Chromosome Disorder Organizations to have your child listed in their database and access to literature and pamphlets on 7q11.23 Duplication:
- Unique Organization, located in the United Kingdom. They also have private Facebook groups for families, access is limited and membership is free. 7q11.23 Duplication Pamphlet from Unique
- Chromosome Disorder Outreach (CDO) – USA. CDO has access to the latest journal articles on 7q11.23 Duplication, they as well have private Facebook groups and membership is free.
2. Become your child’s best resource on 7q11.23 Duplication and familiarize yourself with the literature presented on our website. The majority of physicians may not be familiar with 7q Duplication; as a result please print and share resources with your medical and education teams. One of the leading research teams is located in Louisville, Kentucky in the United States. Dr. Carolyn Mervis and her team are currently studying 7q11.23 Duplication and more information can be found HERE.
3. Ensure your child has a thorough medical examination that’s reviewed by your Family Physician/Pediatrician with baseline investigations for general blood chemistry, echocardiogram (ultrasound of the heart), kidney ultrasound, and if possible a brain MRI to rule out any structural changes. Additional referrals may be required for various specialists and further investigations. Vision screening and appropriate dental care is also important for all 7q11.23 Duplication individuals. Heart defects (specifically aortic dilation), structural kidney defects, enamel and developmental issues with teeth, as well as challenges with vision have all been reported characteristics with the duplication. IMPORTANT RESOURCE ON CARDIAC FINDINGS WITH 7q11.23 Duplication
Once your child has been tested for aortic dilation, create a treatment plan for follow up visits and retesting. If an individual has the dilation, retesting to check for enlargement is recommended every six months to a year. If an individual does not have the dilation, retesting is still recommended on a yearly basis. The dilation has been identified in some cases after initial echos indicated the dilation wasn’t present.
4. Ensure your child has been referred for a multi-disciplinary assessment with the following professionals:
Speech & Language, Occupational Therapy, Physiotherapy, Behavioral/psychological, Neurology, Cardiology and when deemed appropriate, psych/cognitive assessment (typically after 5 yrs old). If your child is struggling with speech and language delays at the time of the cognitive assessment, please ensure the psychologist is aware and advocate for non-verbal testing tools if possible.
5. Connect with others. You don’t have to go through this journey alone. For local connections and support groups, search on Facebook and Google for private special need groups in your area. Duplication Cares is also establishing state and regional support leaders. Click on the Find Other Families link in our website (registration required) to see if other 7q11.23 Duplication Families are in your area. In addition to family support, many organizations in each city have various associations which may be of benefit for your family. (CHADD & ADHD Supports, Sibs Workshops (for younger siblings), Best Buddy Program, Special Olympics, etc)
6. Early Intervention Services will be key for all children involved. You will need to connect with the resources and services in your area to ensure appropriate programming can be obtained for your child’s specific needs. Often times the early signs of the duplication present as “delayed development” and parents are told their child will “grow out of it”. Children with the duplication require ongoing therapy. Intervention is vital. The majority of the children diagnosed with 7q11.23 duplication will require speech and language services from an early age. Ensure an assessment has been completed by a professional SLP with speech disorders experience. Most individuals will also struggle socially. Social skills and behavior therapy is also key.
7. Educational Planning and appropriate supports in school will be critical for the success of your child. Please share information and research concerning 7q11.23 Duplication with the team members. Duplication Cares is happy to provide resources and information to team members with questions.
- IDEA Legislation
- IEP/IPP Planning
8. Having a child diagnosed with a rare chromosome disorder is often overwhelming and stressful. Please take care of yourself during this journey and seek appropriate supports as needed.
Care Giver Support
“Motherhood is about raising and celebrating the child you have, not the child you thought you would have. It’s about understanding that he is exactly the person he is supposed to be. And that, if you’re lucky, he just might be the teacher who turns you into the person you are supposed to be.” – The Water Giver
9. Implement a home therapy program once you identify areas of need. Routine and structure are vital for individuals with 7q11.23 duplication. In most cases, children have challenges with change, an upset in the routine, etc. Children with the duplication like to know what to expect. Predictability and planning helps them manage anxiety and sensory overloads.
a. PECS (picture exchange communication system)
b. Picture schedule charts
c. Sign Language
d. Behavior Therapy (RDI or ABA are two possibilities)
e. Sensory diet (motor movement and exercise)
f. Consider gluten free diet or alternative diet with enzyme therapy.
10. Social Skill Awareness and Therapy – Our children need to be given the tools to interact socially.
- Our children are more comfortable in individual sports (karate, equestrian) rather than team sports. Children are allowed to play down to a younger team. Medical documentation signed by a medical professional may be necessary.
- The best opportunities for social interaction are through cub/girl scouts, disability camps, social skill groups and therapy (utilize the Autism community), Special Olympics, swimming and small group activities.
- Utilize the Autism Community. Many of the treatments and programs geared toward children with autism also help our children.