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22 Jan 2021

William Syndrome
Good day doctor My daughter has William Syndrome. She has supravalvular aortic stenosis and is 32 yrs and underwent open heart surgery with successful reconstruction of the aorta at 9 yrs. She is a diabetic but stage1 with high blood,. She has been experiencing ONGOING severe abdominal pain, with restless mobile PAINFUL contractions or spasms Mostly in her tummy, then jaw-left side drooped and my Gp said its bells palsy which improved with physio , then pains in her back and partially in her face since Sept 2020. She has been for anoscopy, gastroscopy and biopsy-divertculitis , IBS was ruled out-Several blood tests for liver,Thyroid, and several other too much too mention here. The doctors in Klerksdorp(3 surgeons) says they do not have all the answers and I don't think they have time for research on this. The test he said showed slight infection in the intestines but Amoclan forte 500 mg amongst others did not help. She is pleading with me for relief and i'v been through all the medication In the book. Librax,Trepilene makes her sleep but she needs tranquilizer all day b4 pains start again,nuroflex,bevispas,contramet ,lyrica,antibio,adco alzheim, vomidon, Librax,antacid,Deauglacide for sugar,Ziak for hypotension etc.I have all the tests avlbl.I need assistance as to where to go from here as she is losing weight and traumatised with pain all this time and I'm unsure if it's side effects from Deaglucide and or Ziak. Is this not more brain related or maybe a gynaecologist as they found an ovarian syst which they say is not large enough for concern?. I was in contact with a mother of child with similar syndrome and she said they diagnosed her son with perforated colon which was fixed with surgery. So there must be a diagnosed for my daughters condition. Please help me on how to proceed with this. Thankyou My cel is 0828562919.
Answer
Expert
childhood diseases
Paediatrician

22 Jan

Thank you for your important question. I am sure that you know more about William Syndrome than some doctors. Fortunately your daughter’s cardiac problem was successfully treated when she was 9 years. Now she has very severe abdominal pain with spasms. A very likely explanation for her symptoms is diverticulitis. In diverticulitis there is inflammation of many tiny pouches that develop in weak parts of the lining of the colon. Quite often in diverticulitis small perforations of the pouches occur leading to the situation described by your friend whose son had this problem. Google diverticulitis and see if your daughter’s abdominal symptoms fit the description of this condition. The diagnosis of diverticulitis is usually made by performing a colonoscopy or a special scan. Please speak to the surgeon about this possible diagnosis as diverticulitis is well known to occur in adults with William. If necessary it may be necessary to get a second opinion in Johannesburg. Another less likely explanation fir your daughter’s abdominal symptoms is a kidney problem particularly kidney stones due to persistently high blood calcium levels that may be present in William. I hope that this helps you. Please let me know what happens.
The information provided does not constitute a diagnosis of your condition. You should consult a medical practitioner or other appropriate health care professional for a physical examination, diagnosis and formal advice. Health24 and the expert accept no responsibility or liability for any damage or personal harm you may suffer resulting from making use of this content.
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