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.

  1. Is there anyone else in my family who needs to be tested?
  2. Is there a support group for this disorder?
  3. 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?
  4. Is there treatment available or a cure for this disorder?
  5. Will this happen again in our family?
  6. Is this disorder inherited?
  7. If this happens again in our family will the severity be similar?
  8. Are you sure of this diagnosis and if so how are you sure?
  9. Was there anything I could have done to prevent this from happening?
  10. Is prenatal diagnosis available in a future pregnancy?

1. Diagnosis: Trisomy 21 (mongolism)

Questions that should be asked:

  1. What types of medical problems will my child have?
  2. How intellectually impaired will my child be?
  3. Will he be able to live independently?
  4. Will early intervention programs help him?
  5. What kinds of education programs are available?
  6. How do I find these programs?
  7. Does he need to be followed by any specialists?
  8. Will his growth be normal?
  9. Will he be able to have children?
  10. And, if so, will his children be normal?

2. Diagnosis: Cystic Fibrosis

Questions that should be asked:

  1. What kind of medical problems will my child or I have?
  2. Will these problems get worse over time?
  3. Does he need to be followed by any specialists?
  4. Will he have to take medicines and have special therapies?
  5. Will he need these the rest of his life?
  6. Who provides these special therapies?
  7. Will he have to be on a special diet?
  8. Will his growth be normal?
  9. What types of medicines, therapies and equipment will my insurance cover?
  10. Does this affect his intellect?
  11. Will he be able to go to school?
  12. Will he be able to have children?
  13. And, if so, will his children be normal?

3. Diagnosis: Muscular Dystrophy

Questions that should be asked:

  1. What types of therapies and equipment will my insurance cover?
  2. Can my child or I exercise or do I need to restrict my child's activity level?
  3. What activities are safe?
  4. Is this progressive?
  5. Will this get worse?
  6. Will my child or I need a wheelchair?
  7. Will physical therapy help?
  8. Are there specific exercises that would build up strength?
  9. 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:

  1. If this is inherited how can I be the first person in my family to have this disorder?
  2. What is the likelihood that I will get cancer?
  3. Is there anything I need to do to look for cancer that is different from the general population?
  4. What other specialists do I need to see?
  5. Will this progress? Do I need a MRI of my brain?
  6. Would molecular genetic testing be helpful to me or other members of my family?

5. Diagnosis: Marfan Syndrome

Questions that should be asked:

  1. Are there any restrictions on my activity?
  2. What other specialists do I need to see?
  3. What is retinal detachment and how will I know if it happens to me?
  4. Do I need an echocardiogram now and how often should I have one?
  5. I would like to know if my symptoms would get worse as I get older?
  6. Do I need to take any special precautions with regard to surgery?

6. Diagnosis: Fragile X Syndrome

Questions that should be asked:

  1. Can you detect developmental delays in the female members of my family and if so at what age?
  2. What types of medical problems will my child have?
  3. How intellectually impaired will my child be?
  4. Will he be able to live independently?
  5. Will early intervention programs help him?
  6. What kinds of education programs are available?
  7. How do I find these programs?
  8. Will he be able to have children? And if so will his children be normal?
  9. Was molecular testing done and what are the results?
  10. 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:

  1. Was molecular testing done?
  2. Please explain these results to me?
  3. What other specialists do I need to see?
  4. Are there psychiatric issues associated with this syndrome?
  5. Does everyone who has the molecular deletion have psychiatric issues?
  6. Can a person who has no other medical problems but has isolated psychiatric issues have VCF?
  7. If I am breast feeding my infant does the infant need vitamins? Why?
  8. 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:

  1. At what age should my child begin food restriction?
  2. Who can best advise me about this on a regular basis?
  3. Why are we trying to avoid obesity?
  4. How would this hurt my child?
  5. Does the obesity affect my child's intelligence?
  6. What types of medical problems will my child have?
  7. Can you predict how delayed my child will be?
  8. Will he regress?
  9. Will he be able to live independently'?
  10. Will early intervention programs help him?
  11. How do I find these programs?
  12. Will he be able to have children? And if so will his children be normal?
  13. Was molecular testing done, please explain these results to me?

9. Diagnosis: Phenylketonuria

Questions that should be asked:

  1. How long will my child have to be on this diet?
  2. Will this condition affect my child's future pregnancies or children?
  3. Will my child be mentally retarded?
  4. Will my child have other medical problems related to this condition?
  5. Did my diet have anything to do with my child having this condition?
  6. Will this affect my future pregnancies?
  7. Who will advise me about my child's diet?
  8. Who may I call with questions?
  9. Will insurance pay for special foods?

10. Diagnosis: Stickler Syndrome

Questions that should be asked:

  1. What other specialists does my child need to see?
  2. What is retinal detachment and how will I know if it happens to my child or me.
  3. I would like to know if my child's symptoms will get worse as he gets older?
  4. Will my child develop arthritis?
  5. Will my child be prone to ear infections?
  6. Will there be feeding problems and will my child outgrow these problems?
  7. Should we be seeing a feeding specialist?
  8. Does my child's hearing need to be tested? Is prenatal diagnosis available?
  9. Is there a position paper about genetic testing and counseling?
  10. Where can this be obtained?

Nancy Mendelsohn, MD Hennepin Co. Medical Group Minneapolis, MN

                                                                                   

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