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Genetic Disorders

Posted by Margaret Donohue on October 4, 2015 at 11:50 AM

I remember being in Kindergarten when I figured out that the other children in my class were different from me.  By age five I had already had two surgeries for unusual medical problems and I was being routinely followed by six treating physicians.  So when I walked up to Nadine and asked her how many doctors she had, she looked at me like I was crazy.  She explained she didn't have any doctors.  She only got shots for immunizations.


That was when I realized my condition was likely genetic.  My kindergarten class had a garden and we planted vegetables.  We were also told about how plants grew from seeds.  I don't know how many students in my class figured out that the same process also applied to people, but I did.  So it was just a matter of waiting for science to identify all the genes to be able to figure out all the genetic anomolies I have.


Not every person or their parents want to know.  "I just want my son to be normal."  The mother told me.  I told her that genetic disorders tend to result in syndromes.  Many of the syndromes have complications that can be addressed early or monitored for so the person can stay healthy.  I've been able to avoid many of the complications of my syndromes because I know what to do to lessen my risk factors.  My siblings haven't been as fortunate.


A large percentage of individuals with genetic anomolies have something called facial or cranial dysmorphism.  In less medical language it means there's something unusual about the shape or size of their head or the size and structure of their facial features.  In other cases the genetic anomilies are more noticable on the hands or feet.  In other cases medical problems crop up early and are unusual. At age 6 months I weighed a pound less than I did at birth.  My head size is slightly smaller than normal.  It makes it hard to buy a hat. But it's just enough to know it's a likely genetic disorder.  Tracking down my biological family was difficult but I was able to trace my line back two to three generations.  that allowed me to do a medical genogram and document all the medical conditions that people were known to have.  It also documents any genetic predispositions to types of illness.


If you think you or your child has an unusul medical condition, we can help you connect to the right people to determine what is wrong and help you avoid possible preventable complications. Feel free to contact us. 818-223-4116.


Categories: Diagnosis, Health Psychology

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