Hi all,
So because of Ethan's fistula problem we have been referred to genetic counselling to ensure that this won't happen to us again if we have another baby. He was very lucky and only had the problem with his esophagus and trachea, it can occur with severe mental impairment; heart, kidney, vertebrae and brain anomalies. So we want to be sure that his was an isolated case and not something genetic that could affect us again.
So of course we need to collect family information. Specifically any on this list:
Blindness
Blood Disorders (ie: hemophilia, sickle cells, thalassemia)
Cancer (breast or bowel, more than 2 affected people)
Chromosome anomalies (ie. Down Syndrome)
Cleft Lip and/or palate
Cystic Fibrosis
Deafness
Early Childhood Death
Epilepsy
Heart Disorders
Hemochromatosis
Huntington Disease
Limb abnormalities (ie. clubfoot)
Mental Retardation
Metabolic diseases
Miscarriages (3 or more)
Muscle problems (ie. muscular dystrophy)
Neural tube defects (ie. spina bifida, anencephaly)
Neurological disorders (brain or nerve)
Seizures
Skeletal (bone) disorders (ie. dwarfism, multiple fractures)
Stillbirths
Tay Sachs disease
Visual problems
So this list is just an example of most common disorders that they come across. If there is something that is not on the list feel free to add it to your email. They not only request info on my siblings but also on nieces and nephews so please list if there is anything down the line from you...
They will be studying Ethan's surgical records and doing some tests with him and once we get a report from them I will share the information. Now obviously it is more relevant to us because of Randy's information but he really doesn't have any medical history on his side so it won't change it much. I'm fairly confident that they won't come up with much but we're just trying to do the best for our little family!
I would love it if I could get the info before Tuesday of next week because I have to send it back to the genetic clinic next week so that we can hopefully get in to see them before the snow flies up here.
Email me if you have any questions at scrapinitblue@yahoo.ca!
(I did email a few of you that I had email addresses for but I thought I would post it here too to catch some of you that may read my blog but not be included in my email list. If you are that person you need to get me your email address so you can be included!!!)
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