Supporting Children and
Families Diagnosed with
Juvenile Batten Disease
AER International Conference 2012
Bellevue, WA
July 20, 2012
S
Overview
S Introductions
S Basic Information About Juvenile Battens
S Supporting Children by Supporting Families
S Supporting Educational Teams
S Transition Considerations
S Resources
Introductions
Marjorie Newell, Parent
Kathryn D Botsford, TVI & COMS
University of Northern Colorado,
National Leadership Consortium on Sensory Disabilities
Fellow
Follow-up and Contact Information:
bots2132@bears.unco.edu
What is Juvenile
Batten Disease?
S
Juvenile Batten Disease
S Juvenile Neuronal Ceroid Lipofiscinosis (JNCL)
S One of several degenerative double-recessive
genetic neurological diseases collectively referred
to as Batten Disease
S The disease was described in 1826 in Norway,
and documented in 1903 by a British pediatrician
Symptoms
S Early childhood development is typical or advanced
S Age of Onset: 5 to 8 years
S Early symptoms: Subtle vision loss, emotional or
behavior changes, performance at school less than
expected
S A Retinitis Pigmentosa diagnosis
Diagnostics
S Testing:
S Less invasive: ERG, EEG, urine or blood
tests
S More invasive: skin, eye, or lymph node
biopsies
S Genetic screening is available for siblings,
potential carriers
Disease ‘Milestones’
S Progressive blindness
S Slowing mental maturity
S Seizures
S Speech and motor impairment
S Dementia
S Death
Unique Challenges for Schools
S Issues around loss/guilt/grief for families
S Issues around loss/grief for children
S Issues around long-term support for families & children
S Consistency or continuity
S Trust & long term relationships w/ child & family
S Issues around confidentially & privacy
S Issues around family values
S Importance of letting kids be kids
Supporting Children by
Supporting Families
Issues for Families,
Children,
& Schools
S
Extreme Grief
S The TVI may be working with the family before
the student is diagnosed
S The parents will be grief-stricken and overwhelmed
S Parents have different ways of coping and planning
for their child’s future, educationally, medically,
and spiritually
S Families need schools to be patient
Plan for the worst…
hope for the best
S Adults will be planning for an outcome that is different than
what the child knows or hopes for
S Adults must accept and face the realities of the disease in
order to plan for the child’s needs
S Adults must allow the child to have a hopeful, happy
childhood
S While research is being done, no cure is on the horizon
S Batten Disease is always fatal
To tell or not…
S Many parents choose not to tell their child that they have
Batten disease
S If that is the parents’ decision, confidentiality can be
maintained by not using the name of the disease at school
S Rather, describe the symptoms expected in the next year or
two and the expectation that full physical care will be
needed in the future
“Retirement Years”
S Self-satisfaction
S Social interaction
S Enrichment
S Maintaining failing physical & mental functioning
S Not about future planning
Why School?
• School is Normal, Familiar,
Structured, Comforting
• Peers and Learning Activities
• Resources for Enrichment
• The Family Needs the Break
S
Least Restrictive Environment
LRE
S School Oriented—Early Stage
S Inclusion with vision support
S Personal Interest Oriented—Early Stage
S Inclusion with separate space
S School Oriented—Late Stage
S Contained with separate space
S Personal Interest Oriented—Late Stage
S Separate space with visitors (home or school)
Issues with Full-Inclusion
As Batten Disease progresses
Inclusive Settings:
S
S
S
S
S
Accentuate losses
Become stressful and overwhelming
Appropriate peers change
Behavior becomes more disruptive
Complications from anxiety
Intervention Strategies
S ‘Alone
skills’ are important for their future
S Least restrictive environment is the opposite of
conventional thinking
S Student’s focus becomes very narrow
S coping skills diminish
S disruptive behaviors increase
Age Appropriate?
S Memory: Long- and Short-Term
S Maturity Plateau & Regression
S Perseverative or Obsessive Thoughts/Interests
S Unable to learn new concepts.
S Later Stages: Benefit from having the same activities and
supplies at school as at home.
S They still want to be treated their age in some ways.
Parent’s wish list for School
S Accept the fatal outcome, plan accordingly, and don’t dwell on it at
school
S Don’t talk around the kids
S Dispel myths (parents used drugs, parents are too emotional,
“spoiling”) by assuring school personnel that the IEP goals are
appropriate for the student.
S Continuity and consensus on the IEP team
S Build an environment of trust and respect between parents and school
S Help with annual transitions (new teacher, new building, new
placement, new Para – all difficult)
Wish List
S Respect confidentiality
S Para – good match, continuity, trained for seizures,
confidentiality, professional boundaries
S Para/Teacher/Parent Communication facilitates student
participation & elevates frustration
S Careful placement. Most parents, in hindsight, felt they
chose inclusion too long.
Role of the Vision
Team
S
Supporting Educational Teams
S Overall goal: Enhancing the child’s well-
being and providing enrichment in an
educational setting, while minimizing
stress and anxiety
Individualized Education Plans
Early Stage
S IEPs support academic goals to facilitate
classroom participation with peers
Late Stage
S IEPs goals worded to direct adult service
provision
Specific Goals Focused on:
S Skill Maintenance: using motor, cognitive, and
communication skills in a daily routine of enjoyable,
successful activities
S Social and Emotional: activities with groups and important
peers; requesting assistance, and accepting help as disease
progresses
S Behavior: goals that facilitate both their well-being and
other program goals
Materials & Supports
S Specific accommodations depending on stage of
disease & student interests
S Personal Aide to assist with mobility, materials,
transitions, communication, personal care, redirection,
and continuity
S Adaptive materials and equipment
S Mobility instruction as appropriate
S Separate space with familiar adapted activities for
redirection, calming
S Use of separate space when group activity is
inappropriate
S Adjusted expectations, parallel activities, positive grades,
and limited testing
S Late start or adjusted schedule as requested by family
S Careful consideration of transportation needs
and field-trips
Symptoms and
Strategies
Specific Intervention Areas
S
Vision
Symptoms
S Unable to see things others see (white moon in a blue sky)
S Resistance to reading
S School saying they need a vision check
S Eye Doctor saying their physical eye exam is inconsistent
with vision tests
S Central vision is lost first, and then increasing patches of
damage to the retina cause functional, then total blindness
Vision
Strategies
S Adapt Materials for Low-Vision Needs
S Respect Child’s Adaptation and Processing of
Their Loss
S Braille
S Assistive Technology
Seizures
Symptoms Vary Widely
Intervention Strategies
S Updated seizure plan
S Safety training for school staff
S Avoid student boredom
Speech
Symptoms
S Hesitating Speech
S Repetitive Speech
S Stuttering-Like Speech
S Slow, Incorrect, or Absence of Word
Retrieval
Speech
Strategies
S Patience
S Prompting
S Personal interests
S Provide choices
A Note on Communication Systems
Behavior
Symptoms Vary: Personality and Disease Process
S Gender & Innate Personality Differences
S Obsessive Thinking
S Repetitive Speech
S Loss of Maturity and Self-Control
S Moody, Stubborn, Emotional
S Outbursts and Tantrums
Behavior
S Inattentive & fidgety
S Increased anxiety, problems with anticipation, more
easily over-stimulated
S Understand right from wrong, but lose the ability to
control certain behaviors
S Good times & bad times
S Dementia is common and varies
Behavior
Strategies
S School placement
S Scheduling & Schedules
S Separate workspace
S Transitions
S Stimulating not Over-stimulating environment
S Stay flexible
S Encourage with positive feedback
Medications & Behavior
S Medications may have unexpected effects and side-effects
for a child with Batten Disease
S May increase neurological symptoms
S Effectiveness may change
S Hard to tell side-effects from the increasing disease
symptoms.
S Medication Cocktail
Medication & Behavior
Strategies
S Collaborate / Consult School Nurse
S Manage Environment
S Active Positive Engagement
S Limit Stress / Distress
Motor
Symptoms
S Gradual loss of gross motor ability due to neurological
impairment
S Complicated by cognitive impairment
S Limited ability to remember and adapt
S Impaired motor planning
S Loss of ability to tactually identify impairs small motor
function
Motor
Strategies
S OT/PT
S O&M
S Motor Goals
S short term
S flexible
S best in daily activities and routines.
S Assistive equipment: for safety, accessibility, and
comfort
Transition
Considerations
Families Become Caregivers
S
Support for Families
S General Information: Batten Disease Support and Research
Association (BDSRA)
S Medical: insurance provider (special case manager), primary care
provider, pediatric neurologist, and palliative care or hospice
S Social Services: DSBVI, DDD, SSI, and Medicaid
S Legal: for guardianship and will trusts, through a lawyer or court
facilitator
S Emotional: from those who emerge in relationships of trust
S Respite
Global – End Stage
Symptoms
S Extremely poor function due to increased seizure activity
and medications combined with motor, sensory, and
cognitive losses
S Extremely narrow focus, repetitious behaviors, less
awareness of environment, heightened anxiety, and
occasional psychotic episodes where function abruptly
declines
S Poor sleep, GI problems, increasing health side-effect
Global – End Stage
Strategies
S Familiar, comforting environment
S Repetition and routine
S Knowledgeable, competent caregivers
S Assistive Equipment
S Palliative Care or Hospice?
Conclusion: Why a TVI?
S TVIs support children with Batten disease
S TVIs likely the first professional to serve the family
S Their understanding of Batten disease, the issues involved, and
possible strategies will enable them to choose, brief, and prepare
other school personnel to work successfully with the student and
family
S They provide continuity from year to year, and can help families
through the painful process of explaining the child’s condition,
needs, and program to new personnel
Resources
General Information and diagnostic testing:
Batten Disease Support and Research Association, BDSRA
166 Humphries Drive
Reynoldsburg, OH 43068
(866) 648-8718
http://www.bdsra.org/
Batten Disease Family Association (BDFA) U.K.
http://www.bdfauk.co.uk/index.html
U.S. Medical Clinics and Consultation:
• Batten Disease Centers for Excellence (contact information at bdsra.org)
• Oregon Health Sciences University, Doernbecher Children’s Hospital, Portland, OR
• The Bluebird Circle Clinic at Texas Children’s Hospital, Houston, TX
• Nationwide Children’s Hospital, Columbus, OH
• University of Rochester Medical Center, Rochester, NY
• Massachusetts General Hospital, Boston, MA
Palliative Care information and directory
For Parents: online at www.getpalliativecare.org
For Medical Providers: online at www.CAPC.org
Publications available from BDSRA
Bills, W. (2011). Teach and Be Taught: A Guide to Teaching Students with Batten Disease.
Retrieved from http://www.bdsra.org/wp-content/uploads/2012/01/Teachand-Be-Taught-2009.pdf
Teach and Be Taught, DVD Volume II: Positive Behavioral Support.
BDFA Library Resources
http://www.bdfauk.co.uk/library.htm
von der Dunk, M., & de Jong, C. G. A. (Eds.). (1992). Growing up to Dependence: Children
and Young People with Batten Spielmeyer-Vogt Disease. Doorn, The Netherlands:
Bartimeushage.