We invite you to share your story! If you have any insight or similar experiences, please comment. I found this link this morning to an article that was published just over 1 week ago:
http://ghr.nlm.nih.gov/gene/PTEN
Tuesday, February 19, 2013
Cam is home from surgery! Feb 17 was his discharge date, 2 days more than expected... He needed oxygen the first night and his pain was not helping him to want to take fluids. The morphine and tylenol combination do work almost right away after the dose and now he is wanting popsicles, some drinks and he is definitely happier to be at home rather than in the hospital room!
The 2 hours of waiting while our little Cameron was in surgery were the longest 2 hours of our lives! Seeing him in recovery was relieving but also worrisome since his breathing was very harsh - we came to find out that this was normal after the procedures that he underwent, and it eased off after a day or 2. He cried for a bit when he woke up but soon realized his mommy and daddy were there and calmed down.
The surgeon did not see any further growths in his airway or esophagus when he performed the scope examinations - this is great news! The pathology results on the tonsils will be back within a couple of weeks at which time we will be talking to the doctor again.
For now, we are watching him very closely for any signs of bleeding, laboured breathing and dehydration as we continue to offer soft foods and fluids while his throat heals. We are proud of our little trooper!
The 2 hours of waiting while our little Cameron was in surgery were the longest 2 hours of our lives! Seeing him in recovery was relieving but also worrisome since his breathing was very harsh - we came to find out that this was normal after the procedures that he underwent, and it eased off after a day or 2. He cried for a bit when he woke up but soon realized his mommy and daddy were there and calmed down.
The surgeon did not see any further growths in his airway or esophagus when he performed the scope examinations - this is great news! The pathology results on the tonsils will be back within a couple of weeks at which time we will be talking to the doctor again.
For now, we are watching him very closely for any signs of bleeding, laboured breathing and dehydration as we continue to offer soft foods and fluids while his throat heals. We are proud of our little trooper!
Tuesday, January 29, 2013
An interesting read.
http://www.chop.edu/service/oncology/our-programs/hereditary-cancer-predisposition-program/genetic-syndromes-with-cancer-risks/pten-hamartoma-tumor-syndrome.html
When I referred to Cam "is said to have" PTEN Macrocephaly Autism, I referred to it this way because it almost seemed that the doctor was trying to put a name to the condition. From what I read I get the impression that PTEN gene alterations have many syndromes linked to them - is this to do with the specific way in which the gene is altered?? Maybe. The link above is to an article suggesting that all cases of PTEN gene alterations be "labelled" with a particular name. These cases must be still evolving in the medical world - lots to learn yet.
http://www.chop.edu/service/oncology/our-programs/hereditary-cancer-predisposition-program/genetic-syndromes-with-cancer-risks/pten-hamartoma-tumor-syndrome.html
When I referred to Cam "is said to have" PTEN Macrocephaly Autism, I referred to it this way because it almost seemed that the doctor was trying to put a name to the condition. From what I read I get the impression that PTEN gene alterations have many syndromes linked to them - is this to do with the specific way in which the gene is altered?? Maybe. The link above is to an article suggesting that all cases of PTEN gene alterations be "labelled" with a particular name. These cases must be still evolving in the medical world - lots to learn yet.
Monday, January 28, 2013
There is so much to tell! Cameron is 3 years, 3 months old and he is a smart boy! Although he cannot form words properly, he can talk up a storm, he can read his favorite stories back to us (I believe from memory) and now and then he says a clear entire word - when this happens it is so amazing! He can repeat lots of things that we say to him, even though sometimes it is only us that can understand what he says. :)
Cam has been said to have PTEN Macrocephaly Autism: a mutation of his PTEN gene, which is from what I understand the tumor suppressor gene. To me, this means that without proper function of the gene, cells can grow quickly - both good cells and bad cells. The bad cells I can think of would be cancerous tumors. Beginning at age 15, he will undergo regular cancer screenings to monitor his thyroid and parts of his male "plumbing". Cam is scheduled for a tonsil- and adenoid-ectomy on Feb 14, 2013. There are other less pertinent reasons but the main reason is so that the "nubbin" on one of his tonsils may be sent to pathology to make sure there are no bad or unwanted cells growing in it. He will also undergo an "Examination Under Anesthetic" so that they can check the rest of his airway to ensure there are no tumours present... Our geneticist states that this mutation is similar to a PTEN mutation that may be found in patients with Cowden's Syndrome - from what I read though, this is usually an inherited condition that is present in family-lines. In Cam's case this is a de novo mutation - it did not come from either of his parents and as far as we know it is not present in ancestry.
The macrocephaly part of the "title" that is given to Cam's condition simply means enlarged head. Yes, Cam has a big head, it's true! One of the nurses on the day of his birth said something like, "that's the biggest head I have ever seen on a newborn!". About a year ago the measurement of his head (I forget exact figures) was only 1cm smaller then mine (and I am his dad).
The autism part of the title - well no-one will look at him more thoroughly for autism since he seems to be social, interacts with other kids and adults and for the most part does not display normal signs of autism. He does however sport "characteristics of autism" such as arm-flapping when excited or happy, staring at straight edges like the edge of a table, or straight lines of trees for instance.
Low muscle tone is very evident with Cameron: drooling, hard to chew harder foods, walking (he is going to be braced soon to the hip), forming proper words, climbing stairs, stepping over things.
We want to continue to post - afraid the timeline is not going to be specific though, but this is informal, right? Please feel free to comment, share your experiences and please check back often.
Cam has been said to have PTEN Macrocephaly Autism: a mutation of his PTEN gene, which is from what I understand the tumor suppressor gene. To me, this means that without proper function of the gene, cells can grow quickly - both good cells and bad cells. The bad cells I can think of would be cancerous tumors. Beginning at age 15, he will undergo regular cancer screenings to monitor his thyroid and parts of his male "plumbing". Cam is scheduled for a tonsil- and adenoid-ectomy on Feb 14, 2013. There are other less pertinent reasons but the main reason is so that the "nubbin" on one of his tonsils may be sent to pathology to make sure there are no bad or unwanted cells growing in it. He will also undergo an "Examination Under Anesthetic" so that they can check the rest of his airway to ensure there are no tumours present... Our geneticist states that this mutation is similar to a PTEN mutation that may be found in patients with Cowden's Syndrome - from what I read though, this is usually an inherited condition that is present in family-lines. In Cam's case this is a de novo mutation - it did not come from either of his parents and as far as we know it is not present in ancestry.
The macrocephaly part of the "title" that is given to Cam's condition simply means enlarged head. Yes, Cam has a big head, it's true! One of the nurses on the day of his birth said something like, "that's the biggest head I have ever seen on a newborn!". About a year ago the measurement of his head (I forget exact figures) was only 1cm smaller then mine (and I am his dad).
The autism part of the title - well no-one will look at him more thoroughly for autism since he seems to be social, interacts with other kids and adults and for the most part does not display normal signs of autism. He does however sport "characteristics of autism" such as arm-flapping when excited or happy, staring at straight edges like the edge of a table, or straight lines of trees for instance.
Low muscle tone is very evident with Cameron: drooling, hard to chew harder foods, walking (he is going to be braced soon to the hip), forming proper words, climbing stairs, stepping over things.
We want to continue to post - afraid the timeline is not going to be specific though, but this is informal, right? Please feel free to comment, share your experiences and please check back often.
Saturday, May 12, 2012
Hello all. We are 2 concerned parents who found out about 2 months ago the reason our 2-and-a-half year old boy is developmentally delayed, has trouble to eat solid food, wears orthotics since his feet are collapsed and cannot yet speak clear words. He has a mutation (we like the word 'change' better) in his PTEN gene, something doctors identified just 6-8 years ago. We are concerned since this gene 'change' has been linked to high cancer incidence; we are concerned because it is hard to get answers about something that has so recently been discovered...!
Our geneticist told us it would help to speak with other parents out there that have had similar experiences and we are sincerely hoping that this blog will become a forum for us and parents that have children with PTEN gene changes to share and learn from each other.
Our geneticist told us it would help to speak with other parents out there that have had similar experiences and we are sincerely hoping that this blog will become a forum for us and parents that have children with PTEN gene changes to share and learn from each other.
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