Psychosocial Aspects of Living with Gaucher Disease Wendy Packman, JD, PhD Professor Director, Pediatric Psychology and JD-PhD Program in Psychology and.

Psychosocial Aspects of Living with Gaucher Disease

Wendy Packman, JD, PhDProfessor

Director, Pediatric Psychology

and JD-PhD Program in Psychology and LawPacific Graduate School of Psychology at Palo Alto University

Gaucher Patient Meeting: 2014

Outline

Psychosocial issues in inborn errors (IEM): general concepts

Research: Gaucher disease (GD) Quantitative findings Qualitative findings

Coping strategies Psychosocial and neurocognitive

issues in GD: Pediatric patients

Psychosocial Issues

IEM are chronic diseases Infancy through adulthood Affect family system

Clinical presentations of IEM are variable: Metabolic decompensation Neurological symptoms Multi-system organ involvement Developmental delays Behavioral problems

Sources of Psychological Stress For Patients:

Secondary to disease pathology and toxicity

From stressors inherent in living with chronic illness

For Parents and Families: Having a loved one with an inborn error

(Emotional & financial stress, loss of friends, lack of freedom, medication management)

From: Weber S, Segal S, & Packman W (2012), Molec Genet Metab 105: 537-541

Focus of Our Research

What are the psychosocial stressors in a given inborn error?

What are the reactions to the stressors in a given disorder?

Disorders Studied in Our Research

MSUD Galactosemia PKU Hunter syndrome [MPS II] Niemann-Pick B Fabry disease Gaucher disease

Psychological Complications of Patients with Gaucher Disease

W. Packman, T. Crosbie, A. Riesner,C. Fairley, & S. Packman

J Inherit Metab Dis 2006; 29(1):99-105.

Psychological Aspects of Patients with GD: Research Questions

1. Is there a typical psychological profile associated with GD?

2. How does this compare with profiles of other patients with chronic illnesses?

3. Are psychological profiles different for individuals related to severity of symptoms and length of time on ERT?

4. What is the psychological impact of GD on psychosocial functioning?

Psychological Aspects of Patients with GD

Demographic questionnaire Minnesota Multiphasic Personality Inventory

(MMPI-2 ) 567 true-false items to assess personality features Used in chronic illness and chronic pain populations to

assess psychological functioning Semi-structured interview

Initial reaction to diagnosis of GD Daily hardships as a result of their condition Perceived quality of life Relationships with family and friends, stressors

GD symptoms Percent Enlarged spleen 82

Enlarged liver 71

Anemia (low blood count) 71

Bone pain 71

Fatigue 61

Nose bleeds/bleeding problems 57

Frequent bruising 57

Enlarged abdomen 43

Fractures 25

Liver problems 18

Symptom Characteristics of GD Patients (n = 28)

MMPI-2 Inventory

MMPI: Validity Scales

The validity scales include: Lie scale (L), which measures the tendency

to present oneself in a positive light Infrequency (F) scale, which detects unusual

or atypical responses to the test questions Correction (K) scale, which measures test

defensiveness and problem denial

MMPI: Clinical Scales

1 (Hs) Hypochondriasis 2 (D) Depression 3 (Hy) Hysteria4 (Pd) Psychopathic deviate5 (Mf) Masculinity-femininity6 (Pa) Paranoia 7 (Pt) Psychasthenia 8 (Sc) Schizophrenia 9 (Ma) Hypomania 0 (Si) Social introversion

Findings from MMPI-2

Comparison of Psychological Profiles Between GD Participants and Normative Sample

Patients with GD scored significantly higher than MMPI-2 normative sample on MMPI-2 scales Validity (K) Hypochondriasis (Hs) Depression (D) Hysteria (Hy) Psychasthenia (Pt) Schizophrenia (Sc)

Percentage of Participants with GD Scoring in the Normal, Moderately or Markedly Elevated Range on MMPI-2

Scale

% normalrange(57)

% moderately

elevated(58-64)

% markedlyelevated

(>64)

Total % with

elevatedscores (>57)

Validity scales

Lie scale (L ) 71.4 14.3 14.3 28.6Infrequency (F ) 78.6 10.7 10.7 21.4Correction (K ) 50.0 25.0 25.0 50.0

Clinical scales

Hypochondriasis (Hs ) 46.4 14.3 39.3 53.6Depression (D ) 46.4 25.0 28.6 53.6Hysteria (Hy ) 42.9 21.4 35.7 57.1Psychopathic deviate (Pd ) 85.7 10.7 3.6 14.3Masculinity-femininity (Mf ) 75.0 14.3 10.7 25.0Paranoia (Pa ) 71.4 10.7 17.9 28.6Psychasthenia (Pt ) 60.7 25.0 14.3 39.3Schizophrenia (Sc ) 60.7 17.9 21.4 39.3Hypomania (Ma ) 89.3 7.1 3.6 10.7Social introversion (Si ) 85.7 7.1 7.1 14.3

MMPI-2 Findings

Clinical scales (Hs, D, Hy) suggest reactions that are common among chronically ill individuals: Somatic concerns, sadness Emotional distress, tension Under stressful situations -- increase in

physical symptoms and suffering Comparable to scores of patients with

other IEM and chronic disorders

Findings from Interviews

From: Packman, Crosbie, Behnken, Eudy, & Packman (2010). Am J Medical Genetics 152A, 2002-2010.  

Initial Reaction to Diagnosis of GD (N = 28)

Which of the reactions was the strongest for you?

Feelings

Other

Shock

Concern

Sadness

Relief

Disappointment

Guilt

Anger

Fear

Per

cen

t30

20

10

0

Coping with the Diagnosis

Feelings of relief -- the naming of the illness finally put an end to the frightening and ambiguous questions that surrounded their physical health. Several participants stated:

“it was good to have an answer.’’ The diagnosis of GD also helped to rule out

potentially more fatal illnesses such as leukemia and lymphoma.

Concern or shock were also prominent reactions.

“What is your average amount of physical pain attributed to GD?”

Several individuals emphasized problems juggling the demands of work with a chronic ‘‘full-time illness.’’ Bone crises forced one man to leave work and go on disability. For many, GD kept people frommoving forward in their career or dictated career choice because of physical limitations.

No pain 54%Little/Some 21 %Moderate 18 %Considerable 4 %Extreme pain 4 %

“How has GD affected your career decisions?”

“GD has affected me hugely. My first choice was to be a dancer. Second choice was pediatrician. I wanted to be a physician from the time I was little. I was always told I would not be able to do it physically.” -- 55 year- old woman

No effect 46%Little/Some 14%Moderate 11%Considerable 14%Extreme effect 14 %

“How has GD affected your ability to participate in recreational activities?”

“My greatest hobby was sports. So, it essentially destroyed it. The activity which gave me the most satisfaction in life was movement and I can’t move very well. Not well enough to participate in sports, can’t hike anymore, or walk significant distances.” -- 49 year-old man

No effect 29%Little/Some 18%Moderate 18%Considerable 29%Extreme effect 7 %

Psychological and Social Support

Most Important Source of Support

Source of Support

Friends

Religious group

Children

Extended family

Spouse

Pe

rce

nt

50

40

30

20

10

0

“How has GD affected your relationships with your immediate family?”

Participants indicated that having GD deepened their family relationships, improved communication between family members, and that the family felt protective. Participants also described friends as supportive and understanding.

No effect 54%Little/Some 21%Moderate 4%Considerable 18%Extreme effect 4%

Quality of Life

Currently on ERT: 82% (range 1 to 13 ys) 65% on ERT for 9+ ys Quality of life since beginning ERT

Extreme improvement 35% Considerable 26% Moderate 9% Some 17% No improvement 13%

“How does your outlook on life compare with that of other people you know?”

“I’m very optimistic. I think I appreciate life more than other people because of my experience with illness.” –20 year-old man

7% Much better outlook 26% A little better19% About the same48% Quite a bit worse

Suggestions: Improving the Care of Individuals with GD

“Listen, feel like I’m being listened to. I think it would be helpful if the health profession didn’t project what they think they know about the disease.” –55 year-old woman

“I struggle with how do you have healthcare providers help with the frustrations of dealing with chronic illness? I guess I’m looking for empathy and acknowledgement of how frustrating it is to be sick so often.” – 59 year-old woman

Stressors

Major stressors include psychological turmoil: Coping with uncertainties of a chronic

illness Coping with insurance Impact of GD on career and

recreational activities Finances

Reactions

Anxiety, worries, increased stress (35%)

Sadness and depression (25%) Somatic concerns as noted on

MMPI-2 Pain and Physical injury Existential fears

Stress-related Growth

GD had a positive influence on lives (70%) Strong relationships with family and

friends Positive outlook on life More empathic and compassionate Optimistic Able to see the bigger picture more

than others Happy with their own life

Coping Strategies

You are not your illness –What gives your life meaning?

Self-nurturing Exercise Stress-reducing Practices (Meditation,

hypnosis) Changing Thoughts and Feelings Therapies (psychotherapy, complementary

medicine [acupuncture]) Support Groups

You Are Not Your Illness

Tendency to become so identified with the disease and its treatment that we forget who we are.

We are not out illnesses – we are still ourselves.

Separate yourself from GD -- begin to have control over it instead of being totally controlled by it.

Self Nurturing

Rest -- Give yourself permission to rest Pleasant Activities – Engage in experiences and

relationships that you value.

“Sit down next to your joy. Find the people that bring out the best in you and listen to their talk and watch their walk. They live quietly among us, in our own families and circles of friends.” (Rumi)

Exercise within your limits

Activity, Rest, and Pacing Pain leads to reduced mobility which leads to

reduced fitness Find a personal balance Choose an activity you want to do and

construct a realistic schedule (walking, cycling, chores)

Stress-reducing Practices

Imagery, Meditation, Self-Hypnosis Change from passive treatment

approach to an active process of taking control and being in charge

Use as diversion, to lower stress, filter hurt out of pain

Changing Thoughts and Feelings- ABCD Model

Activating Event or Stressor

Beliefs (thoughts & attitudes about stressor )

Consequent Emotion

Disputing (challenging negative thinking)

Back pain while driving the car

“Oh no, my back is going out again. I will have to pull over and will never get where I’ m going. I’ll be laid up now for weeks.”

Fear, anxiety, depressed

“It will be o.k.- I have managed this situation before and I can manage it again. I may have to take a break and be late. Last time this happened, I rested for a couple days and I was fine.”

Boss yelled at me “How could I be so stupid. He probably wants to fire me. I can’t take much more of this. “

Shame, anger, crying, heart racing

“I feel bad that he yelled at me. He’s probably having a really bad day. I’ll talk to him when we are both less stressed. Tonight, I will go to a movie with a friend.”

Therapies and Support Groups

Psychotherapy Cognitive-Behavioral Therapy (CBT) –

emphasizes the role of thinking in how we feel and what we do

Psychodynamic or insight-oriented therapy: focuses on unconscious processes as they are manifested in a person’s present behavior

Complementary medicine Acupuncture

Support Groups

The Psychosocial and Neurocognitive Impact of Gaucher Disease, Type 1 on Pediatric

Patients and their Families

Andrea Alioto and

Wendy Packman, JD, PhD

Palo Alto University

Psychosocial and Neurocognitive Impact of Gaucher Disease, Type 1 on Pediatric Patients and their Families

Previous Research: Hayes et al. (1998)

Health Related Quality of Life in 16 GD, Type 1 patients (8-67 ys)

Symptoms of bone pain and chronic fatigue interfered with academic, occupational, and social activities.

Caregivers gave similar responses about impact of symptoms and ERT on functioning

No study has independently examined psychosocial or cognitive effects in children.

No study has examined psychological well-being of parents or implications on family unit.

Study Goals:

To examine: Health-Related quality of life Psychological and neurocognitive

functioning Effect of ERT on symptoms and functioning Psychological well-being of parent Impact on family unit

Develop recommendations to improve quality of care.

Participants

Children ages 5-18 diagnosed with GD, Type 1 and their parent(s).

Recruitment: 2015 National Gaucher Conference National Gaucher Care Foundation Gaucher’s Association (UK)

Assessment Measures

Pediatric Quality of Life Inventory PedsQL Pediatric Pain Questionnaire Behavior Assessment System for Children Behavior Rating Inventory of Executive Function PedsQL Cognitive Functioning Scale Profile of Mood States- 2nd Edition PedsQL Family Impact Module Pediatric Inventory for Parents

Self-report measures (in person, mail, via Skype)