Doctor insights on:
Tends to be "mild": Most cases and types of eds have fragile skin and joint dislocation as the worst consequenses. However the vascular type can be devestating with spontaneously rupturing blood vessels in multiple organs causing bleeding or bowel rupture. Eds can be confirmed by genetic testing and typed by skin biopsy. ...Read more
Overheard resident say "flk" and attending say my child needs to see pediatric geneticist. What was that about?
Medical slang: Flk stands for “funny-looking kid, ” and was a general term for infants affected with various malformation syndromes, particularly those involving multiple facial abnormalities. Considered demeaning and insensitive, it is no longer in use. ...Read more
1. College. Graduate school major Biology/genetics/phD
1. Medical School then Masters Degree in Genetics (NOTE SOME MED SCHOOLS OFFER COMBINED PROGRAMS! And In my opinion THIS is your BEST BET!)
Hope this is helpful
Dr Z ...Read more
Website: Go to www. Genome. Gov and on the right side scroll down to "genetic disorders faq" and click on it for a pretty complete reference site. In the list on the left pick "faq about genetic counseling". You may get there directly by going to: www, genome. Gov/19016905. ...Read more
After delivering, everyone went quiet and no one will say for sure what my newborn baby has. They said wait for geneticist. Why?
If someone suspects having any kind of ehlers-danlos syndrome including hypermobile, can they go to a geneticist for diagnosis?
Yes: A good generalist can order the genetic tests. There are several types and if you have one you will need to talk to a genetic counselor. ...Read more
The geneticist is sending my son for an emg for suspected congenital myasthenic syndrome in 3 of my kids. How painful is this test?
Uncomfortable: This is a common diagnostic test that is similar to having acupuncture needles placed in various muscle groups. I found it uncomfortable but with minimal pain during the procedure and plenty of information for the doc to use. I would readily have it done again if the need arose. ...Read more
Is genetic testing for scn9a readily available through a geneticist? How to locate this biologist?
That and more: Genetic testing can be ordered by any physician, not just a clinical geneticist. But is this the best test for you? That's rather complicated, and the logical answer is that you should have a thorough evaluation prior to testing. You may need something different. Plus, you need someone to help you understand the results. To find a geneticist, ask your regular doc or google "clinical genetics". ...Read more
After 3 consecutive early MCs with two showing turner's & trisomy 14 (no live birth &32yrs) what are the important ques I shld ask my geneticist & OB?
Besides your history: They have their own protocols to deal with cases similar to yours, PIGD (Pre-Implantation Genetic Diagnosis) might be offered to avoid implanting a genetically defective embryo, but that's again a complex decision. Wish you all the best in having a healthy pregnancy and a healthy baby ...Read more
I need to speak with a geneticist asap. I have passed on a cromosomal abnormality to my baby and have read many peer reviewed journal articles stating that she could die at an early age from all (due to the translocation) or later in life. It is a translo
I: I am not an oncologist or a geneticist, so unfortunately I am not expert enough in these areas to answer your questions. You should speak with the doctor that ordered the testing for you and your child. They should either be able guide you in what you should do next or recommend someone who can. I have also linked to two websites below for the medical genetics and medical oncology departments at duke. You can try contacting them to discuss your concerns if your doctor is unable to help. Good luck! ...Read more
What are the options for individual genetic testing like seeing counselor vs geneticist, doing genome, etc?
Inability to control temps, Tachy Brady, aspiration, reflux. Geneticist suggested peripheral or central nervous system disorder. Like what?
Brainstem problem?: Speculating: Cardioacceleratory-cardioinhibitory nucleus is in the medulla oblongata. So is the nucleus ambiguus (control of pharyngeal muscles). The thermoregulatory center is distant, in the preoptic anterior hypothalamus, BUT descending fibers pass through the medulla because everything must. So it could be a multisystem CNS problem or localized to the medulla. Call in a pediatric neurologist. ...Read more
My husband has a connective tissue disease. He saw the geneticist today and he said that my husband is missing bursa in his hands. What can cause this?
Makes no sense: There are no bursa is anyone's hands. This does not make sense. ...Read more
I've been diagnosed with pots and a connective tissue disorder. The cardiologist said this could explain years of problems and pain. A geneticist is next. This has been so difficult. What does it mean?
Need to seek causes: Pots & connective tissue disorder are syndromes that may partly explain your problems but the deeper question is what is the underlying cause of these. Western medicine doesn't know, but a holistic doctor can explore issues like adrenal fatigue, heavy metal toxicity, food allergies, nutrient deficiencies & chronic infections that may lead to your problems being cured rather than treating symptoms. ...Read more
Good Afternoon, First of all, I would like to ask you if you are familiar with Ehlers-Danlos Syndrome (hypermobility type)? I was diagnosed with hEDS in 2011 by Geneticist LaDonna Immken, M.D. here in Austin. Often I have questions and my PCP and other
Hypermobility: Ehlers-Danlos syndrome type III (EDS Type III, hypermobility type) typically presents with loose ligaments and flexible joints. This can cause joint pain after activity. The skin is not usually overly stretchy. Type III are not subject to the usual complications of more serious types of EDS. A normal lifestyle is expected. ...Read more
Call her!: Your geneticist probably recognized a pattern or a theme in the midline birth defects you have, and she then thought that your aorta might also have some similar difference in the way it was structured, especially since the heart and aorta are in the midline. But I'm just guessing. You absolutley should feel justified to call, email, or write to her and ask this important question. ...Read more
How can I know if geneticist find all the genes responsible for schizophrenia, depression, and ADHD yet?
We haven't: These are all probably polygenic with some environmental input since identical twins are often discordant. We're still discovering new loci. The key is that these are manageable if you're brave enough and care enough about yourself and others to accept treatment. Best wishes. ...Read more