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1 | R a r e C o n n e c t . o r g

Living with TRAPS

Tumor Necrosis Factor (TNF) Receptor-Associated Periodic Fever Syndrome (TRAPS), also known as

Familial Hibernian Fever (FHF) is a rare, dominantly-inherited autoinflammatory disease that is

caused by a mutation in the TNFRSF1A gene. The RareConnect team worked with moderators from

the TRAPS community and a TRAPS medical professional to create this 30 question poll on living with

the disease in order to understand the experiences of people living with this rare disease. The poll

was open on RareConnect.org for 6 months and was sent to all members of the TRAPS community

on RareConnect. 66 people completed the poll in English, German, French, Spanish, and Italian. The

charts below is the summary data from those participants responses.

We would like to thank Julia Gajentaan, Karen Durrant of the Autoinflammatory Alliance and Dr.

Anna Simon for their support.

a person living with TRAPS 38%

parent of someone living with TRAPS

55%

caregiver/advocate for someone living

with TRAPS 7%

The person filling in this form is:

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2 | R a r e C o n n e c t . o r g

Male 40%

Female 60%

Gender

27%

17%

21%

15%

17%

3%

Age

0-10 years

11-20 years

21-30 years

31-40 years

41-50 years

Over 50 years

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3 | R a r e C o n n e c t . o r g

United States 46%

Italy 13%

Spain 12%

France 5%

Australia 5%

United Kingdom 3%

Canada 6%

Germany 8% Denmark

2%

Country of residence

68%

20%

3% 4%

5%

0%

Age when first ill with TRAPS

0-10 years

11-20 years

21-30 years

31-40 years

41-50 years

Over 50 years

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4 | R a r e C o n n e c t . o r g

1 year or less 17%

2-3 years 18%

3-5 years 8%

5-10 years 18%

10 or more years 39%

How long did it take you to receive a diagnosis?

1 doctor 1% 2 doctors

10%

3 doctors 13%

4 doctors 12%

5 doctors 2%

More than 5 doctors

62%

How many doctors did you visit before an accurate diagnosis was made?

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5 | R a r e C o n n e c t . o r g

0

5

10

15

20

25

30

35

40

45

50

What kind of doctor are you currently seeing to manage your TRAPS symptoms? (Check all that apply)

Yes 70%

No 20%

In process, waiting for results

9%

A family member was tested

1%

Do you know your mutation?

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6 | R a r e C o n n e c t . o r g

Yes 32%

No 32%

Unsure 36%

Does anyone else in your family have TRAPS?

If YES you know your mutation, please mention....

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7 | R a r e C o n n e c t . o r g

0

5

10

15

20

25

30

What treatments are you currently taking for TRAPS syndrome? (check all that apply)

0

10

20

30

40

50

60

What symptoms do you have during TRAPS episodes? (check all that apply)

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8 | R a r e C o n n e c t . o r g

1 day 0%

Up to 1 week 29%

Up to 2 weeks 27%

Up to 3 weeks 29%

1 month or more

15%

How long do your TRAPS episodes typically last?

1 day 0%

Up to 1 week 9%

Up to 2 weeks 15%

Up to 3 weeks 29%

1 month or more 47%

What was the duration of your longest flare of symptoms?

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9 | R a r e C o n n e c t . o r g

elevated CRP 45%

elevated ESR 17%

both elevated CRP and ESR

10%

none of the above 14%

other 14%

During a flare or TRAPS episode, do you experience:

Yes 46%

No 21%

Sometimes 33%

Do you experience symptoms outside of the TRAPS episodes?

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10 | R a r e C o n n e c t . o r g

Yes 85%

No 15%

Does TRAPS affect your work and/or school performance?

If YES to the previous question, please share how TRAPS affects work/life:

Original, Unedited Answers:

-it has disabled me.

-Before treatment it caused a large amount of missed school, and poor performance. Now, with

treatment, I sometimes avoid stressful trips for work and sometimes I get breakthrough symptoms.

-My son has missed school due to TRAPS.

-I've missed both school and now work. I am afraid I will not be able to keep my job.

-Very tired easily especially during fevers, very irritable during flares.

-During a flare - bed ridden and typically delirious with fever for a week. Nothing happens other than

moving from bed to bath. The week following a flare she is extremely tired and exhausts easily.

School is compromised during that week too but not to the same extent as the fever episode. In a

lead up to a flare, very tired, lethargy, aches and pains begin. Becomes difficult to do a whole day at

school and/or extra curricular activities. Outside of a flare there can be episodes of joint pain that

prevent her from walking, running, dancing, riding. These episodes stop or disrupt day-to-day

activities depending which joints are affected.

1/4

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11 | R a r e C o n n e c t . o r g

-Can no longer work..too tired and the stress brings on a flare

-Misses alot do to fever and weakness

-when she has pain in legs she wont walk or play. teachers are unaware of disease so sends her home

from school when she has fever/rash.

-Makes my son very emotional, which makes it difficult to participate at preschool.

-It affects. Her education. To many days of school miss so she miss out

-Because flares are so long, as long as my son can drag himself out of bed, he goes to

school/work....graduated high school on time because he is smart.......extremely difficult.......no social

life.

-Part time working - max 20 hours a week

-"I have debilitating flares every couple of months. Often the knees become so inflamed they have to

operate., I get sterile like abscesses and haematomas that need to be surgically removed.,

-I'm in constant pain.,"

-I was forced to quit my job.

-At times outside of a flare, my 3 year old will experience random symptoms if she is a little ran down.

If affects her social skills as she does not want to interact with peers at all & is quite irritable and

intolerant to her usual self. It changes her personality. She also misses alot of day care which she can

only attend 2 days a week due to flares and being ill on and off. Any social activities that we commit to

are always affected as she misses them as soon as she becomes unwell. Sometimes it feels like we can

make 3 steps forward in a matter of 3 weeks and then we take 1-2 back once she becomes unwell

with TRAPS episode. She also seems to have alot less stamina day to day than other children her own

age.

-Before I was on kineret I missed a lot of work and lost my job

-It did prior to treatment. Prior to treatment, I could not exercise, participate in sports. I forced myself

to go to work and school, but was often miserable and suffered greatly to do so.

-Misses a lot of school due to attacks

-Excessive school and recreational absences during active periods

-I can not do it anymore.

-when he used to get flares, he was totally not able to do any schoolwork or really anything else. He

could barely come to eat at the kitchen table. Bed-that's it!

-Many missed days

-Fatigue. Headaches and joint pain, stomach issues that can affect school and/or gym training.

-pain, sick too often, and loss of balance

-It did affect both. missed a lot of school and only worked part time.

2/4

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12 | R a r e C o n n e c t . o r g

-She can't go to school when in a flare. Effects her sports as well.

-my daughter can't go to school when on flare

-I'm fully disabled because of my TRAPS

-missing work, missing social events, fatigue

-While she can attended school for the most part, she did miss over 20 days last year. She also cannot

participate in athletics because excessive physical activity can lead to a flare.

-I have had to quit my job due to the severity of the symptoms. It severely limits my mobility and

ability to participate in activities I once enjoyed.

-Unable to do schoolwork for weeks at a time.

-after 2 years of continuous fever (37.5) .. routine activities start to feel terrible

-I lost a sedentary job because of the many sick days. Any manual work on the joints (fingers, wrists,

knees, ankles) or contact with those body parts is painful. I have trouble handling things well, reading

turning the key in the lock, cutting meat. Physical fatigue. The sentimental and sexual life suffers.

Social life is reduced to my physical abilities.

-School, sports affected

-In the absence of drug treatment, fatigue, difficulty concentrating, frequent inflammations, the

constant stomach problems, gastroesophageal reflux, and especially joint pain make me very sick in

everyday life

-Pain and excessive fatigue prevents me from doing all smoothly and calmly.

-During relapses I can't work

-Sports activities hardly possible to occasionally fail at work

-Because of so much sick leave, my employer has not always been so much understanding. The leisure

plans come after the health needs.

-Weakness, pain in daily life

-medical visits, loss of income, sometimes unable to do physical work, generalized fatigue ...

-Non-attendance

-My social and working lives are a mess. Domestically, I depend on people to help me. There is

increasing pain and nothing mitigates

-Fatigue, malaise and joint pain

-fevers keep me in bed. Fever is the most disabling.

-I was being assessed for disability. Pain that I have every day is also caused by fibromyalgia.

-Low energy

3/4

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13 | R a r e C o n n e c t . o r g

No 79%

Yes 21%

Have you ever participated in a clinical trial for TRAPS syndrome?

-I have absolute invalidity. I had to stop working because many days sick. Many simple but repetitive

movements of my body are difficult. I feel sore and tired

-Difficulty walking, often depressed. At night, I often go to the toilet. I have difficulty sleeping because

of sweats.

-I can not work, it is difficult to move because of constant pain.

4/4

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14 | R a r e C o n n e c t . o r g

Yes 10%

No 76%

Unsure 14%

Have you developed amyloidosis as a result of TRAPS syndrome?

Yes 34%

No 66%

Have you had a pregnancy or fathered a child?

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15 | R a r e C o n n e c t . o r g

Yes 71%

No 11%

Unsure 18%

Have the manifestations (symptoms) of TRAPS syndrome changed throughout your

life as you have gotten older?

0.0%

10.0%

20.0%

30.0%

40.0%

50.0%

60.0%

Lessfrequent

flares

Less severeflares

Morefrequent

flares

More severeflares

Other(pleasespecify)

If you answered YES to the previous question, how have your symptoms changed? (Check all that apply)

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16 | R a r e C o n n e c t . o r g

Yes 19%

No 81%

For WOMEN, if you have been pregnant, did you experience flares during pregnancy?

Episodes appear during menstrual

cycle 37%

Episodes are not associated with menstrual cycle

63%

For WOMEN, do you notice a connection between TRAPS episodes and the menstrual

cycle?

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17 | R a r e C o n n e c t . o r g

No 79%

Yes 21%

Have you had any surgeries for inflammation?

What other health conditions do you have in addition to TRAPS?

-frontal lobe brain damage

-Avascular Necrosis due to prednisone, left hip replaced

-Allergies

-Seizures, Apraxia of speech, regression of speech and motor, spots of disorganized activity

on the frontal lobe, tethered spine, left leg delay, left side arm posturing up during activities

which is related to neuro issues.

-Coeliac, IgA absent, mitral heart valve prolapse

-Idiopathic Severe Chronic Neutropenia

-Asthma, allergies,...

-Behcet-like symptoms

-"Ehlers Danlos Type 3

-Acid Reflux"

1/2

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18 | R a r e C o n n e c t . o r g

-My daughter has alot of food intolerances & allergies.

-remission of amyloidosis; otherwise, none. Half marathoner with treatment for TRAPS :)

-supraventricular tachycardia

-waiting on results

-tinnitis

-Reflux, IGA deficient

-Amnesia,ARTHRALGIA,TENSION HEADACHES, CHRONIC,POSTCONCUSSION

SYNDROME,TRAUMATIC BRAIN INJURY,Ataxia

-Thyroid issues

-Diabetes (Type 2), Asthma, GURD

-intolerance to cold, especially air conditioners, indoor pools (chlorine?) make me sick

-I also have psoriatic arthritis.

-FMF

-Hashimoto's thyroiditis

-I have to muckle Wells syndrome

-Chronic asthma, fibromyalgia, severe pain and migraines. all diagnosed

-osteoporosis

-fibromyalgia, chronic asthma, drug intolerances, allergies and migraines .... several hot.

remember from my childhood a day that did not have any pain.

-Trigeminal Neuralgia

-I have problems in the deep venous system in my legs, which has caused me many varicose

veins and edema by poor circulation return. I always thought that results eel TRAPS, like

other ailments I have had and have, like, plantar fasciitis, sd carpal tunnel, disc protrusion in

cervical, muscle spasms in back, epicondritis on both elbows, arthritis in knees ankles,

intoleran food ia, small hiatal hernia, etc

-multiple sclerosis

-bronchial asthma

-thyroid (removal of a goiter multonodulaire and suspected cancer), pulmonary embolism

-Tachycardia Cancer of the thyroid in remission Endometriose

2/2

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19 | R a r e C o n n e c t . o r g

Yes 54%

No 46%

Are there other family members that have other rheumatic conditions? (ex. lupus,

osteoarthritis, gout, etc.)