Introduction
Methods
Study Design
Participants
Measures
Procedures
Data Analysis
Results
Demographic Characteristics
Total (n = 102) | Adult participants (n = 35) | Participants incapable of providing consent (n = 67) | |
---|---|---|---|
Sex | |||
Females, n (%) | 54 (52.9) | 22 (62.9) | 32 (47.8) |
Males, n (%) | 49 (47.1) | 13 (37.1) | 35 (52.9) |
Agea | 20.9 ± 19.5 | 43.2 ± 15.8 | 9.3 ± 7.5 |
Race | |||
Caucasian, n (%) | 90 (88.2) | 32 (94.1) | 58 (86.6) |
Black or African-American, n (%) | 3 (2.97) | 0 (0) | 3 (4.5) |
Asian, n (%) | 3 (2.97) | 0 (0) | 3 (4.5) |
Other, n (%) | 5 (4.95) | 2 (5.9) | 3 (4.5) |
Ethnicity | |||
Hispanic, n (%) | 4 (3.9) | 0 (0) | 4 (6.5) |
Non-Hispanic, n (%) | 98 (96.1) | 35 (100) | 64 (94.1) |
Primary symptom category | |||
Neurology, n (%) | 49 (48.0) | 11 (31.4) | 38 (56.7) |
Other, n (%) | 11 (10.8) | 4 (11.4) | 7 (10.5) |
Rheumatology, n (%) | 7 (6.9) | 4 (11.4) | 3 (4.5) |
Allergies, n (%) | 6 (6.0) | 4 (11.4) | 2 (3.0) |
Cardiology, n (%) | 6 (6.0) | 4 (11.4) | 2 (3.0) |
Musculoskeletal, n (%) | 6 (6.0) | 2 (5.7) | 4 (6.0) |
Gastroenterology, n (%) | 5 (4.9) | 0 (0) | 5 (7.5) |
N/A, n (%) | 4 (3.9) | 3 (8.6) | 1 (1.5) |
Endocrinology, n (%) | 3 (2.9) | 0 (0) | 2 (3.0) |
Ophthalmology, n (%) | 1 (0.98) | 1 (2.9) | 0 (0) |
Pulmonology, n (%) | 1 (0.98) | 1 (2.9) | (0) |
Hematology, n (%) | 1 (0.98) | 0 (0) | 1 (1.5) |
Psychiatry, n (%) | 1 (0.98) | 0 (0) | 1 (1.5) |
Nephrology, n (%) | 1 (0.98) | 0 (0) | 1 (1.5) |
Support group participation, n (%) | N/A | 4 (11.4) | N/A |
Parental sex | |||
Females, n (%) | N/A | N/A | 53 (77.1) |
Males, n (%) | N/A | N/A | 14 (20.8) |
Parental agea | N/A | N/A | 41.2 ± 8.5 |
Parental affected status, n (%) | N/A | N/A | 3 (4.5) |
Parental support group participation, n (%) | N/A | N/A | 12 (19.7) |
Empowerment
Item | Adult participants (n = 35) | Parents (n = 67) |
p
a
| ||||
---|---|---|---|---|---|---|---|
Agree % (n) | Neutral % (n) | Disagree % (n) | Agree % (n) | Neutral % (n) | Disagree % (n) | ||
[1b] I am clear in my own mind why I am attending the clinical genetics service. | 97.1 (34) | 0 | 2.9 (1) | 98.5 (66) | 0 | 1.5 (1) | 1.0 |
[14] I understand the reasons why my doctor referred me to the clinical genetics service. | 97.1 (34) | 2.9 (1) | 0 | 97.0 (65) | 1.5 (1) | 1.5 (1) | 1.0 |
[23] I understand what concerns brought me to the clinical genetics service. | 91.4 (32) | 5.7 (2) | 2.9 (1) | 95.5 (64) | 1.5 (1) | 3.0 (2) | 0.55 |
[2] I can explain what the condition means to people in my family who may need to know. | 85.7 (30) | 0 | 14.3 (5) | 82.1 (55) | 6.0 (4) | 11.9 (8) | 0.44 |
[9] I am able to cope with having this condition in my family. | 70.6 (24) | 11.8 (4) | 17.7 (6) | 78.8 (52) | 7.6 (5) | 13.6 (9) | 0.58 |
[18] I don’t know who else in my family might be at risk for this condition (reverse coded item). | 69.7 (23) | 18.2 (6) | 12.1 (4) | 60.6 (40) | 15.2 (10) | 24.2 (16) | 0.38 |
[16] I can explain what the condition means to people outside my family who may need to know (e.g., teachers, social workers). | 68.6 (24) | 11.4 (4) | 20.0 (7) | 77.6 (52) | 9.0 (6) | 13.4 (9) | 0.57 |
[11c] Having this condition in my family makes me feel anxious. | 62.9 (22) | 14.3 (5) | 22.9 (8) | 61.2 (41) | 14.9 (10) | 23.9 (16) | 1.0 |
[8] I feel positive about the future | 60.0 (21) | 20.0 (7) | 20.0 (7) | 61.2 (41) | 17.9 (12) | 20.9 (14) | 0.96 |
[17c] I don’t know what I can do to change how this condition affects me/my children. | 60.0 (21) | 25.7 (9) | 14.3 (5) | 46.3 (31) | 22.4 (15) | 31.3 (21) | 0.17 |
[20] I am able to make plans for the future. | 58.8 (20) | 11.8 (4) | 29.4 (10) | 70.2 (47) | 9.0 (6) | 20.9 (14) | 0.46 |
[3] I understand the impact of the condition on my child(ren)/any child I may have. | 57.1 (20) | 28.6 (10) | 14.3 (5) | 71.6 (48) | 13.4 (9) | 14.9 (10) | 0.19 |
[24] I can make decisions about my condition that may change my child(ren)’s future/the future of any child(ren) I may have. | 57.1 (20) | 31.4 (11) | 11.4 (4) | 70.8 (46) | 18.5 (12) | 10.8 (7) | 0.29 |
[12c] I don’t know if this condition could affect my other relatives (brothers, sisters, aunts, uncles, cousins). | 55.9 (19) | 8.8 (3) | 35.3 (12) | 48.5 (32) | 13.6 (9) | 37.9 (25) | 0.69 |
[19] I am hopeful that my children can look forward to a rewarding family life.
|
54.3 (19)
|
45.7 (16)
|
0
|
83.6 (56)
|
10.5 (7)
|
6.0 (4)
|
0.0001
|
[15] I know how to get the non-medical help I/my family needs (e.g., educational, financial, social support). |
51.4 (18)
|
11.4 (4)
|
37.1 (13)
|
73.1 (49)
|
10.5 (7)
|
16.4 (11)
|
0.047
|
[4c] When I think about the condition in my family, I get upset. | 50.0 (17) | 20.6 (7) | 29.5 (10) | 52.2 (35) | 22.4 (15) | 25.4 (17) | 0.92 |
[5c] I don’t know where to go to get the medical help I/my family need(s). | 48.6 (17) | 2.9 (1) | 48.6 (17) | 31.3 (21) | 13.4 (9) | 55.2 (37) | 0.11 |
[22c] I am powerless to do anything about this condition in my family. | 42.9 (15) | 20.0 (7) | 37.1 (13) | 40.3 (27) | 14.9 (10) | 44.8 (30) | 0.70 |
[10
c
] I don’t know what could be gained from each of the options available to me.
|
36.4 (12)
|
36.4 (12)
|
27.3 (9)
|
15.4 (10)
|
32.3 (21)
|
52.3 (34)
|
0.026
|
[21
c
] I feel guilty because I (might have) passed this condition on to my children.
|
36.4 (12)
|
45.5 (15)
|
18.2 (6)
|
34.3 (23)
|
17.9 (12)
|
47.8 (32)
|
0.003
|
[13c] In relation to the condition in my family, nothing I decide will change the future for my children/any children I might have. | 14.3 (5) | 40.0 (14) | 45.7 (16) | 24.2 (16) | 21.2 (14) | 54.6 (36) | 0.12 |
[6] I can see that good things have come from having this condition in my family.
|
11.4 (4)
|
22.9 (8)
|
65.7 (23)
|
40.0 (26)
|
21.5 (14)
|
38.5 (25)
|
0.006
|
[7] I can control how this condition affects my family. | 8.6 (3) | 14.3 (5) | 77.1 (27) | 25.8 (17) | 18.2 (12) | 56.1 (37) | 0.07 |
Support Group Participation
Type of support | Specific examples | Respondents |
---|---|---|
General | The Cause (church) Telephone support groups Local support group Online forums Community support Parent support group Individual and marriage counseling | [Participant 89—adult] [Participant 45—adult] [Participant 45—adult] [Participant 92—adult] [Participant 92—adult] [Participant 46—mom] [Participant 83—mom] |
Special needs | Facebook groups Friends of children with complex conditions Educators and therapists at school for complex children Special Education Parents Advisory Council Local Special Olympics chapter Online support group Jewish mothers of children with special needs Physician Mothers of Children with Special Needs | [Participant 62—mom] [Participant 10—mom] [Participant 10—mom] [Participant 22—mom] [Participant 22—mom] [Participant 66—mom] [Participant 104—mom] [Participant 18—mom] |
Symptom focus | Friends of Brain Injury Spinal cord disease online support group Auto-inflammatory Alliance Facebook page Online pediatric epilepsy support groups Infantile spasms group Facebook group-hypotonia parents connection | [Participant 89—adult] [Participant 45—adult] [Participant 121—mom] [Participant 22—mom] [Participant 18—mom] [Participant 96—dad] |
Specific disease | National Urea Cycle Disorders Foundation Marinesco-Sjogren Syndrome Support Group | [Participant 10—mom] [Participant 64—dad] |
Rare disease | Utah Rare Wisconsin Rare NORD Every Life Foundation for Rare Diseases Rare Disease Legislative Advocates Global Genes Rare disease community for connection and support | [Participant 49—adult] [Participant 83—mom] |
Undiagnosed disease | Rare and Undiagnosed Disease Network San Diego Undiagnosed Family Support Group | [Participant 49—adult] [Participant 87—dad] |
Participant Comments
Theme | Adult participants | Parents |
---|---|---|
Reasons for applying to the UDN | “…hope that even if I don’t find answers for my own condition, that I might be able to help someone else.” [participant 3—adult] “For me an unsolved problem is an exciting opportunities for scientific advancement.” [participant 24—adult] “This testing for me is my last go to try to figure out what I really have. I’ve been disappointed before with testing and this is just another opportunity to find out more or nothing at all. I just want to know why I’m the only one who has this problem and if I have a child will they get the bad gene that I have.” [participant 44—adult] | “As a mother my reasoning for wanting [my son] to be part of the study is to get some answers as to the why his medical problems developed. I understand that a “cure” is not the objective. If his medical problems can be given a name, a link, and a possible understanding of the progression and what could potentially go wrong would be vital information not just for [my son] but his sister and [his] future potential children. I as a mother just want [my son] to live a long happy life.” [participant 16—mom] “I hope one day he has a diagnosis. I hope one day we can help him so that we aren’t afraid of what happens when he gets sick. I hope that one day when someone asks me what happened to him, I can better explain why he is diifferent…” [participant 61—mom] |
UDN program/process | “It is about 2 weeks before my clinic visit and I must say that everyone has been amazing and so helpful. I could not ask for a better experience thus far. I am thankful and so grateful for this opportunity…” [participant 3—adult] “I just wanted to thank all of the people who are in charge of this research study, your [sic] going to change a lot of lives for the better and this could be the one thing that could change my life if something comes out of the study.” [participant 44—adult] | “I am very thankful for UDN.” [participant 21—mom] |
Challenges living undiagnosed | “We say that we live in a diagnostic odyssey times four. Being the mother of three children that suffer with an undiagnosed rare disease while being undiagnosed as well, is very difficult.” [participant 49—adult] “Our family is our support group, because no one else has this condition and no one else can even relate to this experience we have been through” [participant 111—adult] | “It creates a lot of anxiety because my daughter can’t communicate with me or the doctors. I feel responsible for [my daughter’s] outcomes because it seems like I’m always the one who knows when there is a problem… It is stressful to make plans because one never knows when something is going to go wrong, this has been worse since [my daughter] was diagnosed with epilepsy, then a tumor and then infection. I asked the doctor to put in the letter for [my daughter] because it just seemed like there was something more going on with her but no doctor is looking at the whole picture.” [participant 4—mom] “The hardest thing for me is not knowing what lies ahead. He continually exceeds all of my expectations! But, what happened? Why did he get sick? What if he gets sick again? How do I help him? Not having answers to these questions, makes me feel powerless.” [participant 61—mom] “I am worried that there could be no cure or treatment for my daughter’s medical condition, and that that will affect her learning, her normal life and on adulthood her independent living. I would like my daughter to one day be able to go to college and have a normal life. Worried of what would happen to her when us, as parents, no longer exist, if she makes no progress.” [participant 110—dad] |
Positive coping strategy | “If nothing happens then I’ll just live my life the way I’ve been living which is unsure of what to do moving forward with my life but not to give up.” [participant 44—adult] | “As I have explained to [my son] throughout his young life some people have to do maintenance on their body more so than others to keep it running well, like a car. We cannot control if things go wrong, but we can do our best to try to prevent further problems. If that involves continuous doctor appointments, medications, procedures and surgeries than that is what we must do. It will not interfere with having a happy fulfilling life. As the study goes, [my son] understands knowledge is power, and whatever we can learn about his medical conditions can only give us power in making the best decisions possible for his medical care and future. Thank you” [participant 16—mom] “We are very fortunate to have met so many people that have advocated and continue to support [our daughter] and our family. We have many therapists and medical professionals and teachers that have witnessed [our daughter’s] episodes and want to help and we are so grateful for them.” [participant 47—mom] “I don’t have a good diagnosis for my son. However, I know my son. I know he is a fighter and has overcome alot. I know that he is surrounded by people that will help him.” [participant 61—mom] “I am so blessed to have him in my life! He is inspirational to everyone he meets!... He continually exceeds all of my expectations!... I find strength knowing that my son is a fighter. I know that nothing stands in his way! He is a child of God! He is a survivor! My son is a miracle!!” [participant 61—mom] |
Explaining survey responses | “…recently, in fact on the same day I was accepted into UDN, I was terminated from a treatment program that managed some of my most debilitating and life threatening symptoms. While working hard to find a substitute treatment, a treatment alternative, am experiencing much higher levels of anxiety. If I completed the survey just 2 weeks ago, would provide different answers.” [participant 24—adult] “I do not have any children. Therefore, I answered “neither agree nor disagree” on all questions involving children.” [participant 45—adult] | “Since we do not know what the specific condition is, it is difficult to answer many of the questions since so much is unknown.” [participant 59—mom] “Thank you for asking these questions. It matters. I think about these issues daily.” [participant 66—mom] |