PATIENTS NAME:

DATE OF BIRTH:

SEX:
MALE
FEMALE

BIRTH PLACE(CITY STATE COUNTRY):

RACE:
WHITE (SPECIFY ORIGIN OF COUNTRY IF POSSIBLE; E.G. BRITISH, IRISH BACKGROUND ETC.)

BLACK MEXICAN NATIVE AMERICAN ASIAN(SPECIFY ORIGIN OF COUNTRY)

LATIN AMERICAN (SPECIFY ORIGIN OF COUNTRY)

BIRTH WEIGHT:

BIRTH HEIGHT:

GESTATION:

COMPLICATIONS DURING PREGNANT PROCEDURE:

PRESENT WEIGHT:

PRESENT HEIGHT:

FATHER

SPECIFY ORIGIN OF COUNTRY:

PRESENT AGE

DATE OF BIRTH

MOTHER

SPECIFY ORIGIN OF COUNTRY

PRESENT AGE

DATE OF BIRTH

PATIENTS BROTHER AND SISTER

1. NAME:

DATE OF BIRTH

2. NAME:

DATE OF BIRTH

3. NAME:

DATE OF BIRTH

4. NAME:

DATE OF BIRTH

5. NAME:

DATE OF BIRTH

PRESENT ADDRESS:

STREET:

CITY:

STATE:

ZIP CODE:

HOME TELEPHONE NUMBER:

WORKING OFFICE TELEPHONE NUMBER:

FAX:

E-MAIL:

1. LIST SURGERIES AND AT WHAT AGE - SPECIFY TYPE OF SURGERY:

2. WOULD YOU CARE TO COMMENT ON YOUR CHILD’S ATTITUDE TOWARDS ALL THESE EXTRA VISITS TO DOCTORS AND SUCH:

3. AS ANYONE EXPLAINED TO YOUR CHILD DIRECTLY?

AT WHAT AGE?

4. HAVE PARENTS SEEKED OUT HELP OF A GENETIC COUNSELOR?
DO YOU FEEL THAT IT WOULD HAVE BEEN MORE HELPFUL TO YOU IF THE GENETIC COUNSELOR MADE CONTACT WITH YOU AFTER INITIAL CONSULTATION WITH GENETICIST?

5. WHAT KINDS OF MEDICATIONS OR ANY IS YOUR CHILD ON AT THIS POINT IN TIME?

6. DOCTOR WHO IS TAKING CARE OF YOUR CHILD - LIST ALL SPECIALISTS PLEASE:

NAME:

HOSPITAL:

WORKING OFFICE PHONE:

FAX:

ADDRESS:

STREET:

CITY:

STATE:

ZIP CODE:

7. When was your child diagnosed with Morquio’s disease? (ex. 1 month, 2 years old etc.)

1. up to 1 year
2. 1 to 3 years
3. 3 to 5 years
4. 5 to 10 years
5. over 10 years

8. How long of a wait was it to get results back? Specify:

9. Who diagnosed your child at that time?

10. Does your geneticist follow and chart your child’s growth?

11. How was your child diagnosed with Morquio’s disease? (Check one or two or all)

1. Urine test (MPS screening test)
2. Blood test (enzyme activity)
3. Clinical physical examination
4. Others (skin biopsy)
5. X-rays
6. Bone marrow biopsy

  12. Has your child gotten DNA test of Morquio gene? (Check one)

1. yes
2. no
3. unknown
4. recommended by doctor but not done

13. When did you notice your child’s clinical symptoms? Specify age:

1. up to 1 year
2. 1 to 3 years
3. 3 to 5 years
4. 5 to 10 years
5. over 10 years
6. never noticed anything
   

14. What kinds of symptoms did your child have initially? (Check one or more)

1. Bone deformity
2. Short statue (growth retardation)
3. Kyphosis (hump back), Scoliosis
4. Abnormal gait
5. Difficulty of joint movement
6. Cervical spine
7. Hearing loss
8. Restriction of efficient breathing
9. Lower leg pain
10. . Knees slightly bent
11. . Corneal clouding
12. . Chronic ear infections
13. . Increased cranial circumference
14. . Hips
15. . Wrists
16. . Others (specify):

15. What kinds of symptoms does your child have right now? (check one or more)

1. Bone deformity: (Check one or more)

1. Knee
2. Ankles
3. Feet
4. Shoulders
5. Hips
6. Wrists

1. Short stature (growth retardation)
2. Kyphosis (hump back), Scoliosis
3. Abnormal gait
4. Difficulty of joint movement
5. Cervical spine instability
6. Hearing loss
7. Liver enlargement
8. Hernia
9. Restriction of efficient breathing
10. . Heart disease
11. . Teeth problem
12. . Eye problem
13. . Vomiting
14. . Recurrent infection
15. . Snoring

16. How about your child’s intelligence? (Check one or more)

1. excellent
2. normal
3. poor
4. retarded than before
5. hard to learn because of disease

Specify the present school grade:

17. How much does it cost to take care of your child per year because of Morquio disease?

Medical cost:

Care cost at home (equipment, helper cost ect.)

Others: (specify)

18. Do you have medical insurance for the child:

1. none
2. yes, but it does not cover all (only 80%)
3. yes, it covers all or over 90%

19. Have you had any help with state run programs?

20. Assistance from social security?

21. Medicare?

22. Do you think your child’s clinical course is getting worse or not? (Circle one)

1. rapidly worse
2. slowly worse
3. stable
4. improving

23. How much does your child take care alone? (Circle one or more)

1. walk completely without any assistance specify how far she or he can walk currently;

1. less than 1 block
2. more than 2 blocks
3. less than ½ a mile
4. more than ½ a mile

2. walk with aids of something specify
3. wheel chair (specify what age)
   
4. bedridden (please give details).
   
5. Riding a bicycle alone
6. Taking a bath alone
7. Put clothes on alone
8. Take off clothes alone
9. Other favorite activity:
   

1. swim
2. plays with blocks
3. dolls
4. tires easily
5. basketball
6. soccer
7. reading
8. fishing
9. lives and works indepently
10. bike
11. Ever worn a brace (specify type and at what age). Length of time
    
12. Fine motor skills (specify)
    
13. Able to drive a car with specially equipped vehicle?
14. School studies
15. Ever been to any physically changllenged camps? (Specify)
16. Involved in any clubs or organizations?

24. Have you ever heard of gene therapy?

1. yes

Where?

1. tv
2. book
3. doctor
4. newspaper
5. medical journal
6. MPS Society

2. no

How much knowledge on gene therapy do you have? (Check one)

1. none
2. only a word
3. a little
4. I read some books on gene therapy
5. I can explain to somebody what it is

25. Have you ever heard of enzyme replacement therapy?

1. yes

1. tv
2. book
3. doctor
4. newspaper
5. medical journal
6. MPS Society

1. no

How much knowledge on enzyme replacement therapy do you have? (Circle one)

1. none
2. only a word
3. a little
4. I read some books on enzyme replacement therapy
5. I can explain to somebody what it

26. Are you participating in National MPS Society?

1. yes
2. no
3. I heard of it but have not joined

If yes of 26, have you attended international MPS conference?

1. yes

a. how many times?

2. no
3. I have experienced nationwide but not international ones.

27. What is the most serious problem with your child right now? (below are examples, circle if they apply)

Please write without hesitation on any issue from medical problems to daily problems.

Comments:

1. growth retardation
2. weakness of wrist
3. lower back and hip pain
4. stomach pain
5. knees
6. chest
7. bone deformity
8. central nervous system
9. climb stairs
10. . severe constipation
11. . worry of injury such as cervical instability
12. . infections
13. . osteoporosis
14. . legs and hips hurt
15. . inability to walk and work
16. . breathing difficulty
17. . feet turn inward
18. . falls frequenty
19. . "lax" elbow joints becoming "unhinged"
20. . emotionally hard
21. . apnea
22. . weight problem
23. . stamina

28. We have a service of genetic diagnosis (DNA diagnosis) on Morquio disease in Japan without any charge. Have you heard about genetic diagnosis as a general word?

1. yes
2. no

29. If we would like to get your child and parent’s blood DNA diagnosis, would you be willing to cooperate?

Genetic diagnosis is very common in many genetic diseases, crimes and family relationship etc. and normally to screen what kinds of mutations are responsible for the disease is very important because sometimes we can diagnose a carrier in the family members and diagnose the following child before birth. Moreover, in some cases we can judge a certain muttion correlate with a certain clinical course (mild, intermediate, severe). Of course, when you have an advanced treatment such as enzyme replacement therapy and gene therapy in the future, to know your mutational site well in advance is very significant because we can use this mutation as a marker before or after treatment. To investigate mutation on Morquio gene, only several (3-5mls) blood would be necessary.

No

1. yes
2. no
3. unknown
4. If we understand genetic diagnosis in more details, we agree.

30. If we developed enzyme replacement therapy, are you willing to have the opportunity as a clinical trial?

1. yes
2. no
3. unknown
4. if we understand enzyme replacement therapy, we will

31. Normally, to develop enzyme replacement therapy, we need a lot of funding especially at the initial stage; to make a plant to purify enzyme and to make mice model. Do you agree to donate to develop advanced treatment? We have some academic funding in Japan and get some support from the company every year right now. If company covers all the cost from the initial stage, we do not need to worry about this issue.

1. yes
2. no
3. unknown
4. if we understand enzyme replacement therapy in more details, we agree.

32. What type of clinical manifestations or clinical course in Morquio disease does your child have?

1. Classical (severe)
2. intermediate
3. mild
4. unknown
5. between intermediate and severe
6. hip area – considered severe – though diagnosed as mild
7. spine considered severe – though diagnosed as mild

33. Who judged your child as severe, intermediate or mild?

1. parents themselves
2. physical doctor
3. both
4. others specify don’t know – no dr. has told them Specify: don't know? no doctor has told them?
   

34. What do you expect to us, scientists? (below are example, circle if they apply)

Please write without hesitation on any issue from small things to big things.

1. risk worry (reguarding enzyme replacement treatment)
2. would like to know cause of Morquio and more information available
3. to find a cure
4. to respect privacy of families
5. to give everyone frequent updates
6. animals treated humanly
7. ease disease progression
8. to be able to diagnosis faster
9. help the older patients and adult patients concerns
10. . increase growth
11. . to have a normal lifespan
12. . to be able to avoid surgeries altogether
13. . to help with growing pains
14. . to help increase activity and stamina