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Dr. Andrew Rynne

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Was diagnosed with Digeorge syndrome. Has nausea, heart burns. Connection between Digeorge syndrome and gastrointestinal issues?

Our 17 year old daughter was diagnosed with Digeorge syndrom at 3 months of age. She has had major cardiac issues with 3 truncus artiriosis repairs, frequent ear infections as a small child causing hearing loss (2 sets of ear tubes , gone now) and required speech therepy due to her inablility to completely close her soft pallet. Her last surgery was in 2009. About a year ago she began having severe anxiety attacks . These attacks came on one random day shortly after being treated for an ear infection with antibiotics that caused severe stomach problems. So we started taking probiatics. These new symptoms include naussa, heartburn , cramping, chest pain and difficulty swollowing. All these symptoms occur multiple time per day, each day and last a varying length of time and are never the same in intensity or combination of symptoms. We have tried to asstablish a pattern but failed. We saw a gastroenterologist that did a scope procedure and only found a small irritation due to her heartburn. I have followed through with her current providers up to this point with the exception of seeing a therapist because my husband (her father) and I are old school and having trouble believing this is all caused by anxiety. We want to have an MRI or something to rule out anything else and all her providers keep pushing therapy for anxiety. We are at our wits end and don t know what to do, move forward with the currnet plan or start fresh somewhere else. Virtually all of her procedures were handled at C.S. Mott s Children s Hospital at the University of Michigan and up until this point we have been extremely happy with all her care and providers. Any advice or imformation would be greatly appriciated. We have no insurance although she is covered by Medicaid/ Children s Special Health Care, so to top everything off we are omewhat limited on what control we have over her care. Is there a connection between Digeorge syndrom and gastrointestinal issues? Help! She has suffered enough already. -Nancy Bouchard
Thu, 2 May 2019
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General Surgeon 's  Response
Hello,

In the case of DiGeorge syndrome, as the immunity is at compromised level, autoimmune mechanics play a major role for the GI issues as well through the formation of autoantibodies, cell receptor down-regulation and ineffective signal pathways for the nuclear functioning.

Low levels of immunoglobulins are the chief reason behind the pathophysiology of all the instances.

Hope I have answered your query. Let me know if I can assist you further.

Regards,
Dr. Bhagyesh V. Patel, General Surgeon
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