1. Psychosocial Aspects of Living with Gaucher Disease
Gaucher Patient Meeting: 2014
Psychosocial Aspects of Living with Gaucher Disease
Wendy Packman, JD, PhD
Professor
Director, Pediatric Psychology
and JD-PhD Program in Psychology and Law Pacific Graduate School of Psychology at Palo Alto University

2. 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
We are going to start by talking about some general concepts in psychosocial issues in inborn errors of metabolism including possible ways to categorize disorders.
Then, we will focus on some of my research in inborn errors that examines psychosocial issues faced by individuals with MSUD, Gaucher disease and Fabry disease and the impact of these diseases on family members.
Last, we will briefly talk about an intervention – Family systems illness model put forth by Rolland– that is especially well-suited for this population.

3. IEM are chronic diseases
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
IEM are chronic diseases that can develop from infancy through adulthood and affect the entire family system . Clinical presentations and symptom profiles are varied and can include: episodes of metabolic decompensation, neurological symptoms, multi-system organ involvement, developmental delays, learning disabilities, (lethargy, hypoglycemia) and behavioral problems. The medical aspects of inborn errors are well studied; however, less attention has been given to their psychosocial effects. isabilities, and behavioral problems.
IEM are a type of chronic illness that affects children and their families. Some parents have likened the diagnosis of a chronic health condition in their child to a “physical assault”
Following the diagnosis of cancer in a child, parents have reported symptoms similar to those seen in people with Post Traumatic Stress disorder.

4. 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)
Patients experience psychological distress secondary to disease pathology and toxicity and because of stressors inherent in living with a chronic illness. Parents and families experience distress because they have a loved on with an inborn error.
IEM are a type of chronic illness that affects children and their families. Some parents have likened the diagnosis of a chronic health condition in their child to a “physical assault”
Following the diagnosis of cancer in a child, parents have reported symptoms similar to those seen in people with Post Traumatic Stress disorder.
From: Weber S, Segal S, & Packman W (2012), Molec Genet Metab 105:

5. 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?
Our research is focused on the following issues:
Struggles and difficulties
Cumulative effect of chronic illness
Positive effects

6. Disorders Studied in Our Research
MSUD
Galactosemia
PKU
Hunter syndrome [MPS II]
Niemann-Pick B
Fabry disease
Gaucher disease
These 2 categories provide two different kinds of inborn errors for us to study. I am going to talk about 1 disease from Cateogory 1, MSUD and 2 from Category 2 (Fabry disease and Gaucher disease)

7. Psychological Complications of Patients with Gaucher Disease
W. Packman, T. Crosbie, A. Riesner,
C. Fairley, & S. Packman
This is a category 2 disease and it is chronic and progressive and has broad manifestation s. In addition, many patients are adults. This kind of disorder gives us the opportunity to study and focus on a different kind of research question. This gives us the opportunity to study psychological profiles.
We are asking a different kind of question because of the nature of the disorder. Patients are not reacting to a specific, delimited stressor. Rather, they are reacting to the cumulative effect of the stressor – a complex, disorder.
J Inherit Metab Dis 2006; 29(1):

8. Psychological Aspects of Patients with GD: Research Questions
Is there a typical psychological profile associated with GD?
How does this compare with profiles of other patients with chronic illnesses?
Are psychological profiles different for individuals related to severity of symptoms and length of time on ERT?
What is the psychological impact of GD on psychosocial functioning?

9. 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

10. Symptom Characteristics of GD Patients (n = 28)
GD symptoms Percent
Enlarged spleen
Enlarged liver
Anemia (low blood count) 71
Bone pain
Fatigue
Nose bleeds/bleeding problems 57
Frequent bruising 57
Enlarged abdomen 43
Fractures
Liver problems

11. MMPI-2 Inventory

12. 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
The MMPI-2 is a 567-item true/false, self-report inventory designed to assess patterns of personality and emotional disorders. Published in 1989 as a revision of the original MMPI, the MMPI-2 is comprised of eight validity scales, ten clinical scales, and additional research scales. The validity scales are used to assess protocol validity by identifying abnormal response sets.
The validity scales allow one to determine if the person is responding in an unusual or atypical or exaggerated way. (e.g., workers’ comp complainant might be exaggerating his or her complaints)

13. MMPI: Clinical Scales (Hs) Hypochondriasis (D) Depression
(Hy) Hysteria
(Pd) Psychopathic deviate
(Mf) Masculinity-femininity
(Pa) Paranoia
(Pt) Psychasthenia
(Sc) Schizophrenia
(Ma) Hypomania
0 (Si) Social introversion
We are sensitive to the issue of stigmatization of patients and any untoward impressions that may result from the nature of the terms used for the various MMPI-2 scales. We note that these are the actual definitions of the scales on the MMPI-2 and in the MMPI-2 literature. These names are not clinical descriptors, but the technical terms for the scales. The terminology is not intended to stigmatize patients.
The MMPI-2 generates T scores with a mean of 50 and a standard deviation of 10. Scores of 65 and above are regarded as clinically significant.
SCALE DESCRIPTIONS

14. Findings from MMPI-2

15. 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)
The three clinical scales (Hs, D, and Hy) suggest depressive and neurotic reactions that are common among chronically ill individuals. (In a study of breast cancer patients (two cancer groups scored higher on these three scales, particularly depression (D), relative to healthy controls. The authors considered these results indicative of a “lowering of mood, feelings of uselessness and inability to accept optimistic opinions about the future – features associated with existential fears and a predominance of negative affect”. )
The markedly heightened scores of Gaucher participants suggest that they have somatic concerns, sadness, emotional distress, and tension. Especially under stressful situations, they are likely to experience an increase in physical symptoms and suffering.

16. 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
The three clinical scales (Hs, D, and Hy) suggest depressive and neurotic reactions that are common among chronically ill individuals. (In a study of breast cancer patients (two cancer groups scored higher on these three scales, particularly depression (D), relative to healthy controls. The authors considered these results indicative of a “lowering of mood, feelings of uselessness and inability to accept optimistic opinions about the future – features associated with existential fears and a predominance of negative affect”. )
The markedly heightened scores of Gaucher participants suggest that they have somatic concerns, sadness, emotional distress, and tension. Especially under stressful situations, they are likely to experience an increase in physical symptoms and suffering.

17. Percentage of Participants with GD Scoring in the Normal, Moderately or Markedly Elevated Range on MMPI-2
Percentage of Gaucher SS scoring in the normal, moderately elevated or markedly elevated range. 86% of GD participants had moderately or markedly elevated scores on at least one clinical scale; 50% had elevated scores on at least four clinical scales; and 25% had elevated scores on six or more clinical scales. Eleven % of GD participants scored in the range indicative of moderate or severe psychopathology on five (Hs, D, Hy, Pt, Sc) of the ten clinical scales, whereas 36% scored in the range of moderate or severe psychopathology on three (Hs, D, Hy) clinical scales. As noted, 39% of these 28 participants showed markedly elevated scores (>64) on the Hs scale, 36% on the Hy scale, and 29% on the D scale.
No significant differences were found between those GD participants on ERT and those participants not on ERT.

18. 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
The three clinical scales (Hs, D, and Hy) suggest depressive and neurotic reactions that are common among chronically ill individuals. (In a study of breast cancer patients (two cancer groups scored higher on these three scales, particularly depression (D), relative to healthy controls. The authors considered these results indicative of a “lowering of mood, feelings of uselessness and inability to accept optimistic opinions about the future – features associated with existential fears and a predominance of negative affect”. )
The markedly heightened scores of Gaucher participants suggest that they have somatic concerns, sadness, emotional distress, and tension. Especially under stressful situations, they are likely to experience an increase in physical symptoms and suffering.

19. Findings from Interviews
From: Packman, Crosbie, Behnken, Eudy, & Packman (2010). Am J Medical Genetics 152A,

20. 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
Percent 30 20 10

21. 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.
NO-- “Absolutely not. Essentially what I just told you. My bone disease has been accelerated. The only thing that has improved is that my platelets are higher and my organs are smaller. My overall quality of life is actually less. I’m still anemic. Overall, quality of life has declined.”
I would say “no.” For some people, for example, who are anemic, they fell quite different. But, for me, I really don’t feel the difference.
Yes-- I have more energy. I’ve gained weight. I have about a quarter of the pain I had before.
Oh yes, definitely. I was able to throw my crutches away. Able to travel again. Went back to England. Went to New Zealand and Australia. Have lived here since 1994
Oh, yeah. At the beginning I was literally beginning to feel like I was slowing down. (I could not hear what subject said.) The hill down the street, I just walk up now. So much difference. It has to be the enzyme.

22. “What is your average amount of physical pain attributed to GD?”
No pain 54%
Little/Some %
Moderate %
Considerable %
Extreme pain %
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 from
moving forward in their career or dictated career choice because of physical limitations.

23. “How has GD affected your career decisions?”
No effect 46%
Little/Some 14%
Moderate 11%
Considerable 14%
Extreme effect 14 %
“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.” year- old woman

24. “How has GD affected your ability to participate in recreational activities?”
No effect 29%
Little/Some 18%
Moderate 18%
Considerable 29%
Extreme effect 7 %
“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

25. Psychological and Social Support
Most Important Source of Support
Source of Support
Friends
Religious group
Children
Extended family
Spouse
Percent 50 40 30 20 10

26. “How has GD affected your relationships with your immediate family?”
No effect 54%
Little/Some 21%
Moderate 4%
Considerable 18%
Extreme effect 4%
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.

27. 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%
NO-- “Absolutely not. Essentially what I just told you. My bone disease has been accelerated. The only thing that has improved is that my platelets are higher and my organs are smaller. My overall quality of life is actually less. I’m still anemic. Overall, quality of life has declined.”
I would say “no.” For some people, for example, who are anemic, they fell quite different. But, for me, I really don’t feel the difference.
Yes-- I have more energy. I’ve gained weight. I have about a quarter of the pain I had before.
Oh yes, definitely. I was able to throw my crutches away. Able to travel again. Went back to England. Went to New Zealand and Australia. Have lived here since 1994
Oh, yeah. At the beginning I was literally beginning to feel like I was slowing down. (I could not hear what subject said.) The hill down the street, I just walk up now. So much difference. It has to be the enzyme.

28. “How does your outlook on life compare with that of other people you know?”
7% Much better outlook 26% A little better
19% About the same
48% Quite a bit worse
“I’m very optimistic. I think I appreciate life more than other people because of my experience with illness.” –20 year-old man

29. 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

30. 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

31. Reactions Anxiety, worries, increased stress (35%)
Sadness and depression (25%)
Somatic concerns as noted on MMPI-2
Pain and Physical injury
Existential fears
Sadness and depression (25%)
Anxiety, worries, increased stress (35%)
Future
Losing or changing jobs and insurance coverage
Pain and Physical injury
Fearful about missing infusions

32. 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

33. 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
Separate yourself from GD and you will begin to have control over it instead of being totally controlled by it
Identify and Tell Your Story:
What do you think is important in life?
What do you most value?
What does your work mean to you?
How would you start to tell someone who you are?

34. 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.
Separate yourself from GD and you will begin to have control over it instead of being totally controlled by it
Identify and Tell Your Story:
What do you think is important in life?
What do you most value?
What does your work mean to you?
How would you start to tell someone who you are?

35. Coping Strategies Self-nurturing Exercise
Stress-reducing Practices (Meditation, Hypnosis)
Changing Thoughts and Feelings
Therapies (psychotherapy, complementary medicine [acupuncture])
Support Groups
You are not your illness
Separate yourself from GD and you will begin to have control over it instead of being totally controlled by it
Identify and Tell Your Story:
What do you think is important in life?
What do you most value?
What does your work mean to you?
How would you start to tell someone who you are?

36. 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)
Rest whenever possible. Everyone know the healing powers of sleep, but not all of us give ourselves the permission to rest when we are in crisis. There is a tendency to think that we have to stay busy and always be doing something. Remind yourself that rest is, in the long run productive and therapeutic.
Pleasant Activities
Quality of activity is important: Choose things you look forward to and see people you look forward to seeing.
“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)

37. 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)

38. 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
(Train ride – page 239)
The way you think affects the way you feel which governs the way you live. You can learn to discipline the way you talk to yourself and you can learn to give your mind periods of rest through mind-body techniques such as meditation and self-hypnosis.
Self-hypnosis is also useful for pain control and to improve concentration and lower stress.
Tape of an induction that is available for you.

39. 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.”
The ABCD Model can be a useful tool in helping you deal with stress and pain in your life. The model was developed by Albert Ellis to help people with problems and issues other than physical pain. It is useful for patients with chronic medical conditions. This is how it works.
A – is the activating event or stressor. It can be physical, social or environmental
B- Belief system = thoughts and attitudes about stressor.
C- Consequent emotion – As a result of thinking above you might feel anxiety or panic
D- Disputing – challenging negative beliefs. This challenging affects how you feel.
So, with the explanation that caffeine is causing the symptoms the emotions and behavior would be different. Same with the tree branch. The only difference is how the information is interpreted by the person in terms of beliefs. These beliefs are what cause the emotional response and behavior, not the situation

40. 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
CBT– based on modifying cognitiions, assumptions, beliefs and behaviors with the aim of influencing disturbed emotions.
Psychodynamic therapy, also known as insight-oriented therapy, focuses on unconscious processes as they are manifested in a person’s present behavior. The goals of psychodynamic therapy are a client’s self-awareness and understanding of the influence of the past on present behavior. In its brief form, a psychodynamic approach enables the client to examine unresolved conflicts and symptoms that arise from past dysfunctional relationships and manifest themselves in current behaviors and relationships..
Psychodynamic therapy is the oldest of the modern therapies. (Freud’s psychoanalysis is a specific form and subset of psychodymanic therapy.) As such, it is based in a highly developed and multifaceted theory of human development and interaction.

41. Andrea Alioto and Wendy Packman, JD, PhD Palo Alto University
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

42. Previous Research: Hayes et al. (1998)
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.
Hayes et al., study
-Expressed anxiety about discomfort, inconvenience, and costliness of ERT
-Interviewed caregivers about their child’s or spouse’s symptoms
-Did not statistically control for age of participants and therefore did not provide information about differential experiences of GD1 patients across the lifespan
-No discussion of implications for family life

43. 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.
-HRQoL: Impact that a health status has on quality of life
-Level of pain
-Psychological functioning
-Depression
-Anxiety
-Social relationships
-Cognitive functioning
-Executive Functioning: planning, problem solving, flexibility
-Attention
-Concentration
-Learning problems
ERT
-Effect of ERT use on symptoms
-Effect of use on psychosocial and cognitive functioning
Emotional health of Parent
-How has GD affected well-being of parent and vice versa
Impact on Family unit
-family activities
-family relationships
***Develop recommendations specific to improving the quality of care for pediatric patients and their families

44. 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)

45. 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)