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Supporting Children and Families

Diagnosed with Juvenile Batten

Disease

AER International Conference 2012

Bellevue, WAJuly 20, 2012

Overview

Introductions

Basic Information About Juvenile Battens

Supporting Children by Supporting Families

Supporting Educational Teams

Transition Considerations

Resources

Introductions

Marjorie Newell, Parent

Kathryn D Botsford, TVI & COMSUniversity of Northern Colorado,

National Leadership Consortium on Sensory Disabilities Fellow

Follow-up and Contact Information: bots2132@bears.unco.edu

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What is Juvenile Batten Disease?

Juvenile Batten Disease

Juvenile Neuronal Ceroid Lipofiscinosis (JNCL)

One of several degenerative double-recessive genetic neurological diseases collectively referred to as Batten Disease

The disease was described in 1826 in Norway, and documented in 1903 by a British pediatrician

Symptoms

Early childhood development is typical or advanced

Age of Onset: 5 to 8 years

Early symptoms: Subtle vision loss, emotional or behavior changes, performance at school less than expected

A Retinitis Pigmentosa diagnosis

Diagnostics

Testing: Less invasive: ERG, EEG, urine or

blood tests More invasive: skin, eye, or lymph

node biopsies Genetic screening is available for

siblings, potential carriers

Disease ‘Milestones’

Progressive blindness Slowing mental maturity Seizures Speech and motor impairment Dementia Death

Unique Challenges for Schools

Issues around loss/guilt/grief for families

Issues around loss/grief for children

Issues around long-term support for families & children

Consistency or continuity

Trust & long term relationships w/ child & family

Issues around confidentially & privacy

Issues around family values

Importance of letting kids be kids

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Supporting Children by Supporting

Families

Issues for Families, Children, & Schools

Extreme Grief

The TVI may be working with the family before the student is diagnosed

The parents will be grief-stricken and overwhelmed

Parents have different ways of coping and planning for their child’s future, educationally, medically, and spiritually

Families need schools to be patient

Plan for the worst… hope for the best

Adults will be planning for an outcome that is different than what the child knows or hopes for

Adults must accept and face the realities of the disease in order to plan for the child’s needs

Adults must allow the child to have a hopeful, happy childhood

While research is being done, no cure is on the horizon

Batten Disease is always fatal

To tell or not…

Many parents choose not to tell their child that they have Batten disease

If that is the parents’ decision, confidentiality can be maintained by not using the name of the disease at school

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”

Self-satisfaction

Social interaction

Enrichment

Maintaining failing physical & mental functioning

Not about future planning

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Why School? • School is Normal, Familiar,

Structured, Comforting• Peers and Learning Activities• Resources for Enrichment• The Family Needs the Break

Least Restrictive Environment

School Oriented

Personal Interest Oriented

Early Stage Late Stage

LRE

School Oriented—Early Stage Inclusion with vision support

Personal Interest Oriented—Early Stage Inclusion with separate space

School Oriented—Late Stage Contained with separate space

Personal Interest Oriented—Late Stage Separate space with visitors (home or school)

Issues with Full-Inclusion

As Batten Disease progresses

Inclusive Settings: Accentuate losses Become stressful and overwhelming Appropriate peers change Behavior becomes more disruptive Complications from anxiety

Intervention Strategies

‘Alone skills’ are important for their future

Least restrictive environment is the opposite of conventional thinking

Student’s focus becomes very narrow coping skills diminish disruptive behaviors increase

Age Appropriate?

Memory: Long- and Short-Term

Maturity Plateau & Regression

Perseverative or Obsessive Thoughts/Interests

Unable to learn new concepts.

Later Stages: Benefit from having the same activities and supplies at school as at home.

They still want to be treated their age in some ways.

Parent’s wish list for School

Accept the fatal outcome, plan accordingly, and don’t dwell on it at school

Don’t talk around the kids

Dispel myths (parents used drugs, parents are too emotional, “spoiling”) by assuring school personnel that the IEP goals are appropriate for the student.

Continuity and consensus on the IEP team

Build an environment of trust and respect between parents and school

Help with annual transitions (new teacher, new building, new placement, new Para – all difficult)

Wish List

Respect confidentiality

Para – good match, continuity, trained for seizures, confidentiality, professional boundaries

Para/Teacher/Parent Communication facilitates student participation & elevates frustration

Careful placement. Most parents, in hindsight, felt they chose inclusion too long.

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Role of the Vision Team

Supporting Educational Teams

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

IEPs support academic goals to facilitate classroom participation with peers

Late Stage

IEPs goals worded to direct adult service provision

Specific Goals Focused on:

Skill Maintenance: using motor, cognitive, and communication skills in a daily routine of enjoyable, successful activities

Social and Emotional: activities with groups and important peers; requesting assistance, and accepting help as disease progresses

Behavior: goals that facilitate both their well-being and other program goals

Materials & Supports

Specific accommodations depending on stage of disease & student interests

Personal Aide to assist with mobility, materials, transitions, communication, personal care, redirection, and continuity

Adaptive materials and equipment

Mobility instruction as appropriate

Separate space with familiar adapted activities for redirection, calming

Use of separate space when group activity is inappropriate

Adjusted expectations, parallel activities, positive grades, and limited testing

Late start or adjusted schedule as requested by family

Careful consideration of transportation needs and field-trips

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Symptoms and Strategies

Specific Intervention Areas

VisionSymptoms

Unable to see things others see (white moon in a blue sky)

Resistance to reading

School saying they need a vision check

Eye Doctor saying their physical eye exam is inconsistent with vision tests

Central vision is lost first, and then increasing patches of damage to the retina cause functional, then total blindness

VisionStrategies

Adapt Materials for Low-Vision Needs

Respect Child’s Adaptation and Processing of Their Loss

Braille

Assistive Technology

Seizures

Symptoms Vary Widely

Intervention Strategies

Updated seizure plan

Safety training for school staff

Avoid student boredom

SpeechSymptoms

Hesitating Speech

Repetitive Speech

Stuttering-Like Speech

Slow, Incorrect, or Absence of Word Retrieval

Speech Strategies

Patience

Prompting

Personal interests

Provide choices

A Note on Communication Systems

BehaviorSymptoms Vary: Personality and Disease

Process

Gender & Innate Personality Differences

Obsessive Thinking

Repetitive Speech

Loss of Maturity and Self-Control

Moody, Stubborn, Emotional

Outbursts and Tantrums

Behavior

Inattentive & fidgety

Increased anxiety, problems with anticipation, more easily over-stimulated

Understand right from wrong, but lose the ability to control certain behaviors

Good times & bad times

Dementia is common and varies

BehaviorStrategies

School placement

Scheduling & Schedules

Separate workspace

Transitions

Stimulating not Over-stimulating environment

Stay flexible

Encourage with positive feedback

Medications & Behavior

Medications may have unexpected effects and side-effects for a child with Batten Disease

May increase neurological symptoms

Effectiveness may change

Hard to tell side-effects from the increasing disease symptoms. 

Medication Cocktail

Medication & BehaviorStrategies

Collaborate / Consult School Nurse

Manage Environment

Active Positive Engagement

Limit Stress / Distress

MotorSymptoms

Gradual loss of gross motor ability due to neurological impairment

Complicated by cognitive impairment

Limited ability to remember and adapt

Impaired motor planning

Loss of ability to tactually identify impairs small motor function

Motor Strategies

OT/PT

O&M

Motor Goals short term flexible best in daily activities and routines.

Assistive equipment: for safety, accessibility, and comfort

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Transition Considerations 

Families Become Caregivers

Support for Families

General Information: Batten Disease Support and Research Association (BDSRA)

Medical: insurance provider (special case manager), primary care provider, pediatric neurologist, and palliative care or hospice

Social Services: DSBVI, DDD, SSI, and Medicaid

Legal: for guardianship and will trusts, through a lawyer or court facilitator

Emotional: from those who emerge in relationships of trust

Respite

Global – End StageSymptoms

Extremely poor function due to increased seizure activity and medications combined with motor, sensory, and cognitive losses

Extremely narrow focus, repetitious behaviors, less awareness of environment, heightened anxiety, and occasional psychotic episodes where function abruptly declines

Poor sleep, GI problems, increasing health side-effect

Global – End StageStrategies

Familiar, comforting environment

Repetition and routine

Knowledgeable, competent caregivers

Assistive Equipment

Palliative Care or Hospice?

Conclusion: Why a TVI?

TVIs support children with Batten disease

TVIs likely the first professional to serve the family

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

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, BDSRA166 Humphries DriveReynoldsburg, OH 43068(866) 648-8718http://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 directoryFor Parents: online at www.getpalliativecare.orgFor Medical Providers: online at www.CAPC.org

Publications available from BDSRABills, 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/Teach-and-Be-Taught-2009.pdfTeach and Be Taught, DVD Volume II: Positive Behavioral Support. BDFA Library Resourceshttp://www.bdfauk.co.uk/library.htmvon 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.