Fractures and other Bone problems in persons with TBRS

Fractures and other Bone problems in persons with TBRS

**Participation in the survey serves as consent to participate**
Information on this study
Consent Form and Survey for a Study of Bone and Joint problems in people with Tatton Brown Rahman Syndrome

Introduction: Why am I asking you for this information?
I am writing an article about bone and joint problems in people with Tatton Brown Rahman Syndrome (TBRS). I would like to add a Table of Genomes and Anecdotes with the bone / joint problem(s) of the affected person, together with the age at which the problem was first noticed.

Information about the Study:
I want to write this paper to make us and doctors more aware of problems that may affect our loved ones with TBRS. It seems that there are all kinds of joint and bone problems among TBRS people, including breaks, broken or fractured bones, cysts in bones, bent backs (either scoliosis or kyphosis), weak ankles and hyper-flexibility. I will also ask you for a copy of the genome of the person who has TBRS and the age at which that particular bone/joint problem was first noted, and their age at the time this form was filled out. (So we know what the cut-off for our study cohort is.)

Information about the Researcher:
If you have questions about the study, ask me. My name is Vicken Totten MD, I am physician and a member of the TBRS Community, and the mother of a person diagnosed with TBRS. My email is vicken.totten@gmail.com; my personal phone number is 216-543-8348. Call or write if you have questions about this research.

Benefits or harms to you or the person with TBRS:
Benefits: There will be no direct benefits to either of you from completing this survey. However, by adding to what is known about TBRS, you may feel less alone and may learn about bone or joint problems that your loved one may suffer in the future. If you request it and send me your email address, I will send you a copy of the published study when it gets published.

Harms: You may be slightly inconvenienced by completing this study, and it may make you sad. However, because some of the genomes are unique, there also is a small risk that the genome of the person with TBRS will be identifiable, so there may be a risk of loss of privacy.

Consent and Decision making
People with TBRS typically suffer intellectual disability and have someone who serves as a surrogate decision-maker. Because I am asking for your private medical information – the genome - I have to ask you for your consent. Research on live people requires the consent of either the person themselves, or of a surrogate.

If you are a person with TBRS and can make an informed decision about participating in research, please read this Consent Form, sign it, and provide the information I am asking for.

If you are the legal surrogate decision-maker for the person with TBRS, please sign and complete the requested information. Even if you sent me this information before, please complete this form also.

Because I want to publish these anecdotes with the genome, I need to be able to supply a signed consent form to an Institutional Research Board before I can publish. I will be using the Kaweah Health IRB in Visalia, CA, USA.

Before signing, please read and make sure you understand the consent form, so you know what the study is all about. The questions are in this form as well.
Information about the TBRS person
Name (to ensure no duplicates, will not be shared and will be deleted)
Current age
Age when TBRS was diagnosed
Gender
Contact information of Person filling out this form

For PI (Vicken Totten), not to be used in publication.
Name

First NameLast Name
Address

Street Address

Street Address Line 2

CityState / Province

Postal / Zip CodeCountry
Phone Number
Please enter a valid phone number.
Email
example@example.com
Relationship to the potential subject (person with TBRS)

I am the person with TBRSI am the Parent/Guardian of the person with TBRSI am the Spouse/Domestic partner of the person with TBRSI am the Adult child of the person with TBRSI am the Adult brother or sister of the person with TBRSI am an Adult whose relationship to the person with TBRS does not fall within one of the above listed categories. (list below)
What is your relationship to the person with TBRS (if not listed)
Do you consent to participating in this study?*

YesNo (selecting this answer will immediately end the survey)
Signature of person with TBRS, if able to sign

Clear
Signature of Surrogate*

Clear
Thank you for your time and consideration. If you change your mind and wish to participate in the study, you may edit your response or close this window and re-open another.

Feel free to close this window now.

Fractures and other Bone problems in persons with TBRS - Information form

**Participation in the survey serves as consent to participate**
Would you prefer to write the genetic variant of the person with TBRS or upload a copy of the genetic report?

I will type the genome/genetic variant informationI would like to upload a copy of the report
What is this person's genome? (genetic variant, it looks like a long row of numbers and letters)
Please upload a copy of the genetic report here. Only gene variant information is necessary.

Cancelof
Please describe what kind of problems with bones or joint problems that the TBRS has had? At what age did he / she have this problem? Was anything done about it? If so, what? Below is an example of how to answer.
Example of answer to above question

Subject: Adam C. Primo,
- Genome: Adam has a 22.9 Mb interstitial deletion of 2p23.3, defined as likely pathogenic (Arr{hg19} 2p23.3 (24,653, 863-25, 574, 264) x 1).
- He was diagnosed with TBRS when he was 45 years old.
- Adam is male.
- He is now 49 years old.
- Problem: Adam has pretty bad kyphosis now because he has had collapsing vertebrae. The orthopedist put him in a back brace, but he doesn’t like to use it. He didn’t get operated on for this.
- Problem: He was at home. He fell and broke his Right Hip, it had to get operated on. He was 45. That was when and why he got the genome scan. After a year he still has trouble walking but no longer uses a walker.
- Problem: He was diagnosed as having trouble walking at 17 months of age. The doctor thought it was because he had flat feet, he walked on the inside of his ankles. The doctor put him in reverse-last boots, but they didn’t seem to correct the out-towing and bent-over ankles. He was 17 months old then and still has flat feet and walks on his inside ankles.
- Problem: He was a cuddly, soft, floppy baby, and is still “double jointed” all his life.
To help you remember, your loved one might have had:
- Kyphosis (hunchback) At what age? What happened? How was it treated?
- Scoliosis (twisted back) At what age? What happened? How was it treated?
- Lordosis (swayback) At what age? What happened? How was it treated?
- Bone cysts (if you know, were they fluid filled, fat filled or other?)
- Compression fractures (collapsing vertebrae)
- Flat feet
- In-turning feet or flat ankles
- Frequent or severe sprains (of what joint?) (What was the treatment?)
- Broken bones (fractures) Which bones? At what age? What happened? How was it treated?
- Sprains requiring treatment beyond just a little rest
- Chest wall problems: the breastbone juts out, called ‘pigeon breasted’ or was sunken in ‘pectus excavatum’ or something else (what?). Was anything done about it? What?
- Brittle bones. Was this called osteoporosis? How did you learn about it?
- Was surgery on bones or joints that a doctor recommended but which you refused? If so, what surgery was recommended and why did you refuse?
When it gets published, do you want me to send you a copy of the published article?

YesNo
Email published article will be sent to:
example@example.com
Thank you so much for your trouble, from me and on behalf of all of us who want to know more about TBRS.
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Fractures and other Bone problems in persons with TBRS

Information on this study

Information about the TBRS person

Contact information of Person filling out this form

Fractures and other Bone problems in persons with TBRS - Information form