The document discusses challenges for school-aged children with genetic disorders and introduces the Genetics Education Materials for School Success (GEMSS) website as a resource. GEMSS provides condition-specific information and support for families, schools, and healthcare providers to help children with genetic disorders succeed in school. The document reviews laws protecting students with disabilities, differences between IEPs and 504 plans, and examples of how GEMSS can be used, such as developing lesson plans and IEPs. Four case studies are presented where individuals could utilize information on the GEMSS website.

1. School-Aged Patients with
Genetic Disorders
Leah Burke, MD
March 8, 2022
1

2. Objectives
• Identify the challenges of a genetic diagnosis for school-
aged children
• Discuss the disability landscape for children
• Review some of the technologies including GEMSS website
• Utilize the GEMSS website to address problems associated
with particular genetic syndromes
2

3. NYT: The Wilderness of Rare Genetic
Diseases and the Parents Navigating It
“Shortly after learning that their child has a rare disease, parents often feel alone
as they navigate a sea of acronyms, a maze of hospital corridors and piles of
unpaid bills. Some will start to lose faith in their doctors and the medical system
to provide for their child’s particular needs. But treatment options for children
have gotten better in recent years — in part, as a result of parents’ grit.”
NYTimes 7/7/2020

4. Rare Diseases
• Rare diseases are quite common, conversely
• NIH defines a rare disease as any condition
affecting < 200,000 People.
• The 7,000 or so known rare diseases affect as
many as 10% of the US population
• About 80% of these are genetic and about half
of those appear in childhood, many of whom
don’t survive into adulthood

5. Psychological & Social Implications of a
Genetic Diagnosis in Children
• Important to consider the family unit
– Guilt in unaffected members
– Siblings may feel left out
– Financial burden
• Expectations for the child
– Normal family expectations such as in discipline
– Child still has needs unrelated to their diagnosis
– When is a child told?
• Importance of condition specific support groups
The New England Public Health Genetics Education Collaborative. Understanding Genetics: A New England Guide for
Patients and Health Professionals. Washington (DC): Genetic Alliance; 2010 Feb 17.

6. Financial Implications
• Consider SSDI for the child

8. 2. Other congenital disorders that affect multiple body
systems. Other congenital disorders, such as
congenital anomalies, chromosomal disorders,
dysmorphic syndromes, inborn metabolic syndromes,
and perinatal infectious diseases, can cause deviation
from, or interruption of, the normal function of the body
or can interfere with development. Examples of these
disorders include both the juvenile and late-onset
forms of Tay-Sachs disease, trisomy X syndrome (XXX
syndrome), fragile X syndrome, phenylketonuria
(PKU), caudal regression syndrome, and fetal alcohol
syndrome. For these disorders and other disorders like
them, the degree of deviation, interruption, or
interference, as well as the resulting functional
limitations and their progression, may vary widely from
Other than Down Syndrome…

10. What about education?

11. Laws of the Land
• Rehabilitation Act of 1973
– An Act to replace the Vocational Rehabilitation Act, to
extend and revise the authorization of grants to States
for vocational rehabilitation services, with special
emphasis on services to those with the most severe
disabilities, to expand special Federal responsibilities
and research and training programs with respect to
individuals with disabilities, to establish special
responsibilities in the Secretary of Health, Education,
and Welfare for coordination of all programs with
respect to individuals with disabilities within the
Department of Health, Education, and Welfare, and
for other purposes.

12. Laws of the Land
• Rehabilitation Act of 1973
– Section 504
• Specifically designed to protect the rights of individuals
with disabilities who are in programs that receive
federal funding
• Includes public school districts, institutes of higher
education and other state and local education agencies
• A student must have a disability that limits a major life
function

13. Laws of the Land
• Rehabilitation Act of 1973
– Section 504
• Individuals with Disability Education Act (IDEA)– 2008/2009
– Civil rights legislation detailing the rights for all children to have
a “free and appropriate public education” in the “least
restrictive environment”
– Governs how states and public agencies provide early
intervention, special education, and related services eligible
infants, toddlers, children, and youth with disabilities.
– IDEA Part C - Infants and toddlers, birth through age 2
– IDEA Part B - Children and youth ages 3 through 21
• Americans with Disabilities Act Amendments of 2008
broadened the definition of disability in the ADA and in
Section 504

14. IEP vs 504 Plan
• IEP or Individualized Education Plan provides a
plan for education of a child who qualifies for
Special Education
• A 504 plan covers students who meet the
Section 504 for disability but need
accommodations other than special education
– Ex. Extra time or a quiet area for exams,
accommodations for physical differences or
limitations

15. Genetics Education Materials
for School Success (GEMSS)

16. How was GEMSS Envisioned and Why
In 2012, NEGC (which evolved into NERGN)
developed a user-friendly website.
• Simple to use and understand
• Vetted
• Free
• Shows that school can be a positive experience
for everyone
• Stresses high expectations

17. How the Content is Organized
• Condition - At a Glance
– Links to learn more about the physical characteristics
and/or symptoms of the condition
• Things to Think About in the classroom:
– Medical/Dietary Needs
– Education Supports
– Behavior & Sensory Supports
– Physical Activity, Trips and Events
– School Absences and Fatigue
– Emergency Planning

18. How the Content is Organized
• What you need to know / What you can do
– Bulleted lists
– Drop down boxes
• Enhancements:
– “Meet a Child”
– Transitions
– IEP/504 plans
– Condition-specific resources

19. Ways to Use GEMSS
• Schools
– Develop lesson plans, prepare for meetings
– Staff training
– Creating/amending the IEP or 504 plan
– Help plan snacks, physical activity, etc.
• Families
– Share the content for your school, doctor, family
and friends

20. GEMSS for Healthcare Providers
• Collaborative care tool to support children
with genetic conditions
• Not a diagnostic tool, rather it is useful for
coaching parents and building healthcare
plan for school use

21. GEMSS for Healthcare Providers
Condition-specific Healthcare Provider versions include:
• Physical characteristics and/or symptoms
• Recommended routine surveillance
• Emergency protocols
• Specialists who may be involved
• Sample forms, including paragraph to
insert into letter of medical necessity
• Seven important aspects of school life
• Resources

22. 37 Conditions on GEMSS
• 22q Deletion
• Achondroplasia
• Aicardi
• Angelman
• Autism
• CHARGE
• Congenital Heart
• Cornelia de Lange
• Cystic Fibrosis
• Down syndrome
• Ehlers-Danlos
• Fetal Alcohol
Spectrum
• Fragile X
• Galactosemia
• Kabuki
• Marfan
• MCAD / VLCAD
• MECP2 Duplication
• Mitochondrial
• MPS Disorders
• Neurofibromatosis
• SMA, MD and other
Neuromuscular
• Noonan
• PKU
• Prader Willi
• Rett / Rett Variant
• Rubinstein-Taybi
• Russell-Silver
• Sickle Cell
• Smith-Magenis
• Sotos
• Tuberous Sclerosis
• Turner
• Urea Cycle
• Williams
• Undiagnosed

23. A look at the website!
https://www.negenetics.org/genetic-education-
materials-school-success-gemss
www.gemssforschools.org

24. Case #1
A mother of a 3 year old with PKU
(phenylketonuria) has cared for her son at home
since his diagnosis at birth. Now he is ready to
go to preschool and she is worried that the
teacher and school don’t have the knowledge or
ability to care for him properly
http://www.gemssforschools.org/

25. Case #2
A first grade teacher has a new child coming to
her class with a diagnosis of Williams syndrome.
She would like to know more about the
educational challenges before having the family
meeting. There is a special educator involved,
but the child will be in her classroom for most of
the day.
http://www.gemssforschools.org/

26. Case #3
A pediatrician is seeing a 3 year old in his
practice for the first time, after the family
moved to the area. He is told that the child has a
diagnosis of Aicardi syndrome. This is not a
syndrome with which he is familiar and he
would like to be informed before meeting the
family.
http://www.gemssforschools.org/

27. Case #4
A school nurse has been told that her school will
have a first grader with a urea cycle defect. She
wants to be aware of any health issues that
might come up during a school day with this
child.
http://www.gemssforschools.org/

28. QUESTIONS?