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International LOWE (OCRL1) SYNDROME PATIENT Registry

To better understand the disease an international registry is being established. Confidentiality of  personal information regarding incidence, genetics, clinical course and prognosis is provided to professionals and families. Your cooperation in registering and in helping to contribute information on Lowe individuals to the registry is greatly appreciated. Please print out and complete the form hand written or typed. Also please add any extra information, pictures or  extra pages.      

Registration of Lowe Subject

Name:

_______________________________________________________________.

Title:

_______________________________________________________________..

Specialty:

_______________________________________________________________..

Address with Postcode and Country:

_______________________________________________________________..

Telephone/ email:

_______________________________________________________________..

The information I have provided may be summarized and communicated to other health care professionals if there is proper acknowledgement and the patient's identity remains confidential.

 


Signature  _________________  Date  ______________________

Please Return completed signed form to: 

The Lowe Subject Registrar
Lowe Syndrome Trust
77 West Heath Road.
London NW3 7TH  

Today's Date:

__________________________________________________________

lowe Subjects Name:

__________________________________________________________

Birth Date:

__________________________________________________________

Address with Postcode and Country

 

 

 _________________________________________________________

Age diagnosis was made:

__________________________________________________________

By Whom:

Name:  ____________________________________________________

 

Address:

 

__________________________________________________________

 

Subject's personal physician or family doctor:

Name: _____________________________________________________

 

Address:

 

__________________________________________________________

What was reason for ascertainment (what symptoms):

 

 

 

____________________________________________________________________________

What is subjects

Weight: _________________________________________________________

 

Height: _________________________________________________________

 

Medical
problems:

 

 _______________________________________________________________.

 

Signs or Symptoms

Yes/
Present 

 

 

No/
Absent

 

Ages of
Onset

 

Cataracts in both eyes

_____

 

 

_____

 

_____

 

Glucoma in one or both eyes

_____

 

 

_____

 

_____

Hypotomia (Floppyness)

_____

 

 

_____

 

_____

 

Development delay - first walking

_____ 

 

_____

 

_____

 

Development delay - first words

_____

 

_____ 

 

_____

 

Kidneys loss of nutrients

_____ 

 

_____

 

_____

 

Behaviour - hand-flapping

_____ 

 

_____

 

_____

 

Behaviour - obessive

_____ 

 

_____ 

 

_____ 

 

Behaviour - self-harming

_____ 

 

_____ 

 

_____ 

 

Siezures/epileptic fits

_____ 

 

_____ 

 

_____

 

Dental problems 

_____ 

 

_____ 

 

_____

Arthritus/joint pain/loss of mobility    

_____ 

 

_____ 

 

_____

What if any specific tests have been done?

Blood and Urine?

DNA test? 

Fibroblast test?

 

 

Family

 

 

Mothers Name:

_____________________________________________________________

 

Birth Date:

_____________________________________________________________

 

 

Father's Name:

_____________________________________________________________

 

Birth Date:

_____________________________________________________________

 

Brothers and Sisters:

 

Name

 

Sex

 

Birth Date

 

Medical Problems

1. _______________

 

____

 

_________

 

_________________________________________

2 _______________

 

____

 

_________

 

_________________________________________

3. _______________

 

____

 

_________

 

_________________________________________

4. _______________

 

____

 

_________

 

_________________________________________

What school(s) have been attended. Please indicate if these are normal or special needs only. Please comment on the local social and education services support if any, for special educational needs.

 

   

 

____________________________________________________________________________

Any family history of the disorder? If yes, what relatives?

 

 

 

____________________________________________________________________________

Has subject been reported in medical literature? If so, where and when.

 

 

 

____________________________________________________________________________

Other history / medicines / behaviors / observations / you may consider relevant.

 

 

____________________________________________________________________________

Is the subject listed in the LSA membership or with any other medical support group? ___________________________________________________________________________

The lowe Syndrome Trust.

Do you know everything that you need to know about the prescriptions? Use the following checklist to find out. Check off each piece of information by clicking in the check box. Then print the checklist and take to your doctor or pharmacist. Talk to your doctor or pharmacist to learn more about what you don't know.

For each prescription, do you know:

the name (both brand name and generic name) of the medication?
 
what effects to expect from the medication (for example, when it will start working and how it may make you feel)?
 
how much medication to take?
 
how often to take the dose and at what times of the day to take each dose?
 
what food should the medication be taken with (with food versus without food)?
 
For how long should the medication be taken?
 
what to do if a dose is missed?
 
what should be avoided while taking the medication (for instance, certain foods or drinks, or other medications)?
 
if there are any restrictions on regular daily activities while taking the medication?
 
what possible side effects can occur and what to do if they appear?
 
how long to wait before reporting to your doctor that the medication is not improving the symptoms?
 
how to properly store the medication?
 
the expiration date of the medication?