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Diagnosed with Di George's syndrome. Frequent sickness. Have a colostomy bag due to bowel cancer

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Gastroenterologist, Surgical
Practicing since : 1989
Answered : 883 Questions
My sister is 51 and was diagnosed with di XXXXXXX syndrome about 5 years ago. Before she was diagnosed she used to suffer with bouts of sickness. Now is i having the bouts very regularly. Is there any connection? she also had bowel cancer two years ago and now has a colostomy bag. hope you can help as it is wearing everyone down.
Posted Fri, 6 Jul 2012 in Digestion and Bowels
Answered by Dr. Ketan Vagholkar 2 hours later

Thank you for writing in.

Di George's is associated with hypoplasia of various glands associated with the immune and endocrine system. As a result the patient can suffer from infectious and endocrine problems. In your sister's case she has had heart surgery which will further add to the systemic insufficiency and thereby increase the frequency of sickness attacks. This causes significant morbidity.

Bowel cancer is adding to the problems. Her intrinsic strength to counter the malignancy is going to be severely compromised increasing the chances of spread or recurrence. This can further increase the frequency of abdominal symptoms and requires regular and prompt follow up.

Passive immunotherapy and strict surveillance of the bowel cancer for recurrence or spread can only help reduce the problem but not eradicate fully.

I hope this answers your doubt. Let me know if you need more information.

With regards

Above answer was peer-reviewed by
Follow-up: Diagnosed with Di George's syndrome. Frequent sickness. Have a colostomy bag due to bowel cancer 1 hour later
Her heart surgery was over 35 years ago so I am not clear why that is significant now. What treatment can she have to stop the sickness. All the tablets she has tried do not work. Anti sickness injections seem to be the only treatment that works. She is sleeping most of the time and not eating.
Answered by Dr. Ketan Vagholkar 1 hour later

Thanks for reverting.

Heart defects are an integral part of the syndrome. The severity of the defect could still have an impact such as Fallot's tetralogy which is the severest form of heart disease.

The other age related complications which develop in such patients are hypothyroidism, hypocalcaemia, renal problems eventually leading to metabolic encephalopathy. The immune mechanism is also extremely weak making the patient susceptible to infections.

The hyper-somnolence is due to metabolic factors.

So effectively there is no specific treatment. Treatment amounts to correction of individual biochemical abnormalities.

The prognosis is grim.

I hope this answers your doubt.

With regards
Above answer was peer-reviewed by
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