Guest guest Posted October 6, 2005 Report Share Posted October 6, 2005 We had a horrible experience this week with the genetics and neurology dept. at the hospital. Ronan endured such an ordeal--to come home with no more new information, no comparison of his MRI to see if his brain atrophy is progressing and to be mocked for mentioning we use enzymes, chiropractic care and diet changes. I know we won't be going back. The neurologist didn't even show up for the appt.! Here's the biggest concern. After Ronan was deprived food and liquids to be sedated for the MRI, he did okay. He was slow to wake, was very cranky and very clumbsy. The day after our appt., Ronan smelled of maple syrup. Our local ped was very concerned and asked if I knew anything about maple syrup urine disease. I knew it was usually a very early baby issue with a very grim prognosis. We've stopped the enzymes (he was on peptizyde and prime zyme) and just give a probiotic along with his daily anti-seizure drug. I've already freaked out about the possibility of the new road we are walking down--does anyone knew anything about MSUD and the interaction with digestive enzymes? Ronan is also IgA deficient so help with that issue would be great too. I saw that posted this morning--he has <4 whatever they are called in his system. Thanks, Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 6, 2005 Report Share Posted October 6, 2005 , I don't know a lot about it, but I do know that this is one thing that is commonly tested for in the Amish and Mennonite communities in Lancaster County PA (where I live). Where are you from? We have wonderful doctors in this area who deal with this since it is common among this population here. An article I had read in the past can be found here. http://www.meadjohnson.com/metabolics/maplesyrupurinedesease.html Of course it is a pharmaceutical listing, but informative. Are you getting tested for this, at least to rule it out? Make certain you do. How old is Ronan again? Jackie--- > Here's the biggest concern. After Ronan was deprived food and > liquids to be sedated for the MRI, he did okay. He was slow to > wake, was very cranky and very clumbsy. The day after our appt., > Ronan smelled of maple syrup. Our local ped was very concerned and > asked if I knew anything about maple syrup urine disease. I knew it > was usually a very early baby issue with a very grim prognosis. > We've stopped the enzymes (he was on peptizyde and prime zyme) and > just give a probiotic along with his daily anti-seizure drug. I've > already freaked out about the possibility of the new road we are > walking down--does anyone knew anything about MSUD and the > interaction with digestive enzymes? > > Ronan is also IgA deficient so help with that issue would be great > too. I saw that posted this morning--he has <4 whatever they are > called in his system. > > Thanks, Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 6, 2005 Report Share Posted October 6, 2005 The urine sample is going out today. We are in NC, but not from here originally. Both my husband and I are military brats from all over the US. The genetics guy asked if we had any chance of being related--- not as far back as of the early 1700s at least according to the geneaolgy we can document. I'll be sure to read that link today--I am trying not to be nervous but almost thankful if it can be diagnosed so we at least have a place to start! Thanks, ps. Now that we have taken out enzymes, it's only just been over 24 hours, Ronan's poops are gritty, almost feeling like sand when we do diaper changes..ideas? Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 18, 2011 Report Share Posted December 18, 2011 It has now been siad my brother has s Disease and the went into crisis which caused the Cardiac arrest and Stroke. I know I read here before about s so shall go scouting around for the information. If anyone has any thoughts or advice I would so appreciate it right now. Many thanks. Lynne Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 18, 2011 Report Share Posted December 18, 2011 Read the information here about 's Disease Lynne http://www.pituitary.org/disorders/addisons_disease.aspx .. Read also the information here http://www.nhs.uk/Conditions/s-disease/Pages/Complications.aspx Complications from adrenal crisis Adrenal crisis is a medical emergency and must be treated immediately. If it is left untreated, it can lead to coma and death. Adrenal crisis can cause: cardiac arrest: when the heart stops completely stroke: when the blood supply to the brain is interrupted hypovolaemic shock: when severe blood and fluid loss means that your heart cannot pump enough blood around your body hypoxia: when the body’s tissues do not get enough oxygen If any of your organs or tissues, including your brain, do not get enough oxygen, it can cause permanent disability. Read more about the symptoms of an adrenal crisis. How is your brother right now Lynne? Luv - Sheila It has now been siad my brother has s Disease and the went into crisis which caused the Cardiac arrest and Stroke. I know I read here before about s so shall go scouting around for the information. If anyone has any thoughts or advice I would so appreciate it right now. Many thanks. Lynne Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 19, 2011 Report Share Posted December 19, 2011 Hi Sheila, Many thanks for the reply and the links. My brother is stable at the moment and awaiting more tests including an angiogram. They are also testing for kidney damage and other things he couldn't remember what they are though. I shall check out those links and keep you informed of his progress. Once again many thanks, Lynne Quote Link to comment Share on other sites More sharing options...
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