Specialty Area: Medical Genetics
Description of Specialty: The field of Medical Genetics is a highly specialized area of
medicine the concerns the rare inheritable disorders.
- Is there anyone else in my family who needs to be tested?
- Is there a support group for this disorder?
- Do you have other patients with this disorder and would they be willing to talk with me?
Does this change my (or my child's) life expectancy?
- Is there treatment available or a cure for this disorder?
- Will this happen again in our family?
- Is this disorder inherited?
- If this happens again in our family will the severity be similar?
- Are you sure of this diagnosis and if so how are you sure?
- Was there anything I could have done to prevent this from happening?
- Is prenatal diagnosis available in a future pregnancy?
1. Diagnosis: Trisomy 21 (mongolism)
Questions that should be asked:
- What types of medical problems will my child have?
- How intellectually impaired will my child be?
- Will he be able to live independently?
- Will early intervention programs help him?
- What kinds of education programs are available?
- How do I find these programs?
- Does he need to be followed by any specialists?
- Will his growth be normal?
- Will he be able to have children?
- And, if so, will his children be normal?
2. Diagnosis: Cystic Fibrosis
Questions that should be asked:
- What kind of medical problems will my child or I have?
- Will these problems get worse over time?
- Does he need to be followed by any specialists?
- Will he have to take medicines and have special therapies?
- Will he need these the rest of his life?
- Who provides these special therapies?
- Will he have to be on a special diet?
- Will his growth be normal?
- What types of medicines, therapies and equipment will my insurance cover?
- Does this affect his intellect?
- Will he be able to go to school?
- Will he be able to have children?
- And, if so, will his children be normal?
3. Diagnosis: Muscular Dystrophy
Questions that should be asked:
- What types of therapies and equipment will my insurance cover?
- Can my child or I exercise or do I need to restrict my child's activity level?
- What activities are safe?
- Is this progressive?
- Will this get worse?
- Will my child or I need a wheelchair?
- Will physical therapy help?
- Are there specific exercises that would build up strength?
- Is it only muscles that are affected or are there other medical problems that are part
of this disorder?
4. Diagnosis: Neurofibromatosis
Questions that should be asked:
- If this is inherited how can I be the first person in my family to have this disorder?
- What is the likelihood that I will get cancer?
- Is there anything I need to do to look for cancer that is different from the general
population?
- What other specialists do I need to see?
- Will this progress? Do I need a MRI of my brain?
- Would molecular genetic testing be helpful to me or other members of my family?
5. Diagnosis: Marfan Syndrome
Questions that should be asked:
- Are there any restrictions on my activity?
- What other specialists do I need to see?
- What is retinal detachment and how will I know if it happens to me?
- Do I need an echocardiogram now and how often should I have one?
- I would like to know if my symptoms would get worse as I get older?
- Do I need to take any special precautions with regard to surgery?
6. Diagnosis: Fragile X Syndrome
Questions that should be asked:
- Can you detect developmental delays in the female members of my family and if so at what
age?
- What types of medical problems will my child have?
- How intellectually impaired will my child be?
- Will he be able to live independently?
- Will early intervention programs help him?
- What kinds of education programs are available?
- How do I find these programs?
- Will he be able to have children? And if so will his children be normal?
- Was molecular testing done and what are the results?
- Should anyone else in my family be concerned about having a similarly affected child?
7. Diagnosis: Velocardiofacial Syndrome (VCF, DiGeorge or Catch 22)
Questions that should be asked:
- Was molecular testing done?
- Please explain these results to me?
- What other specialists do I need to see?
- Are there psychiatric issues associated with this syndrome?
- Does everyone who has the molecular deletion have psychiatric issues?
- Can a person who has no other medical problems but has isolated psychiatric issues have
VCF?
- If I am breast feeding my infant does the infant need vitamins? Why?
- Are there other medical problems I need to be concerned about that may develop as my
child gets older; such as speech issues, behavioral problems, learning disabilities, or
susceptibility to infections?
8. Diagnosis: Prader Willi Syndrome
Questions that should be asked:
- At what age should my child begin food restriction?
- Who can best advise me about this on a regular basis?
- Why are we trying to avoid obesity?
- How would this hurt my child?
- Does the obesity affect my child's intelligence?
- What types of medical problems will my child have?
- Can you predict how delayed my child will be?
- Will he regress?
- Will he be able to live independently'?
- Will early intervention programs help him?
- How do I find these programs?
- Will he be able to have children? And if so will his children be normal?
- Was molecular testing done, please explain these results to me?
9. Diagnosis: Phenylketonuria
Questions that should be asked:
- How long will my child have to be on this diet?
- Will this condition affect my child's future pregnancies or children?
- Will my child be mentally retarded?
- Will my child have other medical problems related to this condition?
- Did my diet have anything to do with my child having this condition?
- Will this affect my future pregnancies?
- Who will advise me about my child's diet?
- Who may I call with questions?
- Will insurance pay for special foods?
10. Diagnosis: Stickler Syndrome
Questions that should be asked:
- What other specialists does my child need to see?
- What is retinal detachment and how will I know if it happens to my child or me.
- I would like to know if my child's symptoms will get worse as he gets older?
- Will my child develop arthritis?
- Will my child be prone to ear infections?
- Will there be feeding problems and will my child outgrow these problems?
- Should we be seeing a feeding specialist?
- Does my child's hearing need to be tested? Is prenatal diagnosis available?
- Is there a position paper about genetic testing and counseling?
- Where can this be obtained?
Nancy Mendelsohn, MD Hennepin Co. Medical Group Minneapolis, MN