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What Could Cause Gastrointestinal Issues When Diagnosed With Angelman's Syndrome
Question: Hello,
I have an adult daughter. She has Angelman syndrome. She is unable to speak or communicate except to cry, scream, smile and laugh. She has all the symptoms of Angelman of syndrome. Severe cognitive impairment, seizures and must be diapered I am telling you this because I believe it’s important in order to understand her history and vulnerability.
For at least 6 years her abdomen was so swollen that she appeared 9 months pregnant. She was moved to a new facility 3 month ago and they have been very helpful towards finding out what is wrong with her. We now know that she has been severely impacted with her waste product, yet her gastroenterologist does not know. Why. After many tests they have dis covered “multiple abscesses and lesions” in her large intestine. Her father told me they need to do surgery.
Can you give me so ideas about what what is causing these abscesses and lesions?
I’m also concerned because she is a total innocent and can understand where she is or what is happening to her, therefore may be disruptive. She will not understand post surgical pain and IV’s and may hurt herself. Her father and a caregiver from her facility will be there with her constantly, yet I am still sick at heart for her fears and pain. Will they keep her sedated.
Thanks very much for any information you may be able to share with me
I have an adult daughter. She has Angelman syndrome. She is unable to speak or communicate except to cry, scream, smile and laugh. She has all the symptoms of Angelman of syndrome. Severe cognitive impairment, seizures and must be diapered I am telling you this because I believe it’s important in order to understand her history and vulnerability.
For at least 6 years her abdomen was so swollen that she appeared 9 months pregnant. She was moved to a new facility 3 month ago and they have been very helpful towards finding out what is wrong with her. We now know that she has been severely impacted with her waste product, yet her gastroenterologist does not know. Why. After many tests they have dis covered “multiple abscesses and lesions” in her large intestine. Her father told me they need to do surgery.
Can you give me so ideas about what what is causing these abscesses and lesions?
I’m also concerned because she is a total innocent and can understand where she is or what is happening to her, therefore may be disruptive. She will not understand post surgical pain and IV’s and may hurt herself. Her father and a caregiver from her facility will be there with her constantly, yet I am still sick at heart for her fears and pain. Will they keep her sedated.
Thanks very much for any information you may be able to share with me
Brief Answer:
Gastrointestinal issues are a part of Angelman's syndrome.
Detailed Answer:
Hello,
As you might well be aware, Angelman's syndrome is a genetic imprinting disorder that manifests to varying degrees in different individuals.
Your description accurately matches that of Angelman's syndrome, You may confirm the diagnosis by DNA methylation testing or UBE3A sequencing and ArrayCGH or FISH. (If there are no discernible chromosomal anomalies, then molecular testing for the imprinting center of the chromosome 15 can be done).
That said, Most people affected with Angelman syndrome will have at the very least one gastrointestinal issue, including chronic constipation, poor feeding in infancy, GERD etc.
I sincerely hope the outcome of the surgery is the best.
Long standing impacted stools do cause ulcerations in the colon and severely ulcerated colon needs to be surgically repaired or excised(removed).
It is unfortunate that your daughter will not be able to comprehend the impact of the said surgical intervention.
Unfortunately there are no other options left.
You should request the surgeons to make sure that she does not suffer after the surgery and sedate her adequately for at least 3-4 days after surgery and give TPN during that time.
I hope the surgery goes well and she recovers from it without incident.
Hoping for the best.
Warmest regards.
Gastrointestinal issues are a part of Angelman's syndrome.
Detailed Answer:
Hello,
As you might well be aware, Angelman's syndrome is a genetic imprinting disorder that manifests to varying degrees in different individuals.
Your description accurately matches that of Angelman's syndrome, You may confirm the diagnosis by DNA methylation testing or UBE3A sequencing and ArrayCGH or FISH. (If there are no discernible chromosomal anomalies, then molecular testing for the imprinting center of the chromosome 15 can be done).
That said, Most people affected with Angelman syndrome will have at the very least one gastrointestinal issue, including chronic constipation, poor feeding in infancy, GERD etc.
I sincerely hope the outcome of the surgery is the best.
Long standing impacted stools do cause ulcerations in the colon and severely ulcerated colon needs to be surgically repaired or excised(removed).
It is unfortunate that your daughter will not be able to comprehend the impact of the said surgical intervention.
Unfortunately there are no other options left.
You should request the surgeons to make sure that she does not suffer after the surgery and sedate her adequately for at least 3-4 days after surgery and give TPN during that time.
I hope the surgery goes well and she recovers from it without incident.
Hoping for the best.
Warmest regards.
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Above answer was peer-reviewed by :
Dr. Yogesh D
Answered by
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