Top 10 Things to Do After Diagnosis
1. Learn about 7q11.23 Duplication. Information from the medical community is limited. The syndrome is new and long term studies have not been completed. The following are our current resources:
a. www.duplicationcares.org – A nonprofit organization committed to supporting families with children diagnosed with 7q11.23 Duplication Syndrome, as well as being dedicated to raising awareness in the medical community about the existence and treatment of this disorder. A parental support group is available.
b. http://www.rarechromo.org/html/home.asp – The UNIQUE Organization, based out of the UK, provides information and resources for rare chromosome disorders. In their directory of information, under 7q11.23 Duplication, is an informational pamphlet explaining the disorder in detail. This pamphlet can be printed and given to family, friends, and medical professionals.
c. http://louisville.edu/psychology/mervis/research/dup.html - University of Louisville Information and Research project. Dr. Carolyn Mervis, Dr. Colleen Morris, and Dr. Shelley Velleman, among other researchers are working to better understand the language, cognitive, social, and personality characteristics of individuals with 7q11.23 duplication syndrome.
In addition to assisting with the progression of the research, your child and family will receive feedback from test data that will greatly help in the treatment of your child and supporting your family efforts. To participate in the research project, please contact Dr. Carolyn Mervis. Some financial assistance may be available.
d. http://www.bcm.edu/genetics/dup7q11.23/about.html - Baylor College of Medicine’s information site.
e. (pending) 2009 European journal document
Once you have learned about the disorder, distribute information to your current doctors and therapists, and family members.
2. Join the Duplication Cares Family Support Group. Currently, we are your best network for information. We can be contacted through duplicationcares@gmail.com. We are also present on Facebook
3. Therapy is key! Learn about your insurance coverage. What therapies are covered? (Speech, Occupational Therapy, Physical Therapy, Mental Health Benefits, Social Skill Therapy, and Sensory Integration Therapy) How many therapy visits are allowed per year? Find qualified therapists and doctors in your network? Become familiar with diagnosis codes and billing codes. Certain diagnosis codes may not be covered under your plan.
Known Diagnosis Codes:
758.50: Trisomy 7 with duplication
315.39: Speech Articulation
315.31: Speech Expressive
440.35: OT Evaluation
CPT Billing Codes:
92507: Speech Services
97110: Physical Therapy Services
97112: Neuromuscular Re-education
97530: Therapeutic Activities
97533: Sensory Integrative Techniques
97535: Self Care
97003: OT Evaluation
92626: Cap Testing – 1st hour
92627: Each additional 15 minutes after the first hour
4. Based upon the child’s abilities and delays, obtain a physical therapy evaluation, hearing test, occupational therapy evaluation, full vision screening, EKG and EEG, occupation therapy evaluation, full speech and language assessment, neurological evaluation, and cognitive and behavior profiles.
Identify if these services are covered by your insurance. It is important to establish a baseline and then create therapy and a plan of action based upon the evaluation results. Therapy and early intervention are crucial. Parents are often told their children are developmentally delayed and they will "grow out of it". However, our children need intervention in order to progress and succeed. Therapy is vital.
5. Distribute evaluation results to your medical and professional teams in order to develop a plan of care.
6. What are the resources in your area for early intervention, therapy, children’s hospital services, State Parent Centers, Financial Assistance, and Insurance Coverage? The best way to find out about local services is through other parents and your area's Parent Resource Center(s).
For example, Parent Resource Centers in the United States, serve families of children of all ages (birth through 26 years) with all disabilities; physical, cognitive, behavioral, social, and emotional. Once you locate your state’s parent center you can gain assistance with anything from a school IEP question or concern to medical resources and programs available for your child.
Parent Centers across the United States share information and resources with each other. The following web address is a database full of information. Type your topic or area of concern into the search engine. Information from all of the nation’s parent centers will be sorted to help you find answers.
This is also a resource available for individuals living outside of the United States.
7. Build an Individualized Education Plan with your school or early intervention team. Using evaluation results, secure services.
8. Implement a home therapy program.
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.
9. Social Skill Awareness and Therapy – Our children need to be given the tools to interact socially.
a. Our children are more comfortable in individual sports rather than team sports. Children are allowed to play down to a younger team. Medical documentation signed by a medical professional may be necessary.
b. The best opportunities for social interaction are through cub scouts, disability camps, social skill groups and therapy (utilize the Autism community), Special Olympics, Adams Camp (www.adamscamp.org), swimming and small group activities.
c. Utilize the Autism Community. Many of the treatments and programs geared toward children with autism also help our children.
d. Find sensory activities.
10. If you have a child with special needs…. so do you. You don’t have to go through it alone. Find programs and training that will benefit you and your family.
a. CHADD – Your partner in ADHD Education and Support (ADHD)
b. Duplication Cares – family support for 7q11.23 Duplication
c. SIBS Programs – programs designed to assist siblings of children with special needs
d. Friend and Family Support Network – Educate those around you. 7q11.23 Duplication can be an invisible disability. At first glance, a disability may not be easily detected by the outside world. Others may not fully understand the demands or strain placed upon individuals and relationships while raising a child with special needs. Arrange for respite care. Parents and siblings need individual time.
f. Best Buddy Program - pairs special needs children and adults with typical peers. (http://www.bestbuddies.org/)
e. Clergy, professional counselors, or other forms of support are beneficial.
