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10-04-2014, 04:09 PM   #1
Chickadee
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Diagnosis: CSID

I haven't been here in a while, but I wanted to let you know about my diagnosis, as it might possibly be an answer for someone here too. I have had significant gastrointestinal problems all my life. I missed the last month of kindergarten; I was hospitalized in high school; I had to leave my job in Arizona. And yet, doctors could never figure out what was wrong. This summer, one of my other specialists referred me to another gastroenterologist. I didn't expect a lot, as my previous experiences had been unfruitful at best, but after reviewing my records and talking with me, this doctor immediately told me that she suspected some condition causing malabsorption and ordered tests to check her theory. The abnormal test results showed she was correct so she decided to proceed with a small intestinal biopsy, and taking into account my symptoms since childhood, ordered a special test on the biopsies. Two weeks ago, I was diagnosed with a rare, genetic condition, in which my body does not produce enough enzymes to digest most foods. It's called Congenital Sucrase-Isomaltase Deficiency (CSID), and I fall into the subset of those who also are deficient in lactase (meaning, lactose intolerant). (Oh, and I also have gastritis and esophagitis.) Anyways, I don't know if most people who find out that they have an incurable, genetic condition are happy, but for me, this is very hopeful. I will have to be on a very strict diet and take medication 5x a day for the rest of my life, but I'm cautiously optimistic that this could lead to positive health changes for me. If you want to know more, this is an excellent site: http://csidcares.org/ I would like to spread awareness about the condition so that it doesn't take others three decades to be diagnosed. I am the first person my gastroenterologist has diagnosed with CSID, and none of my other doctors have ever treated anyone with it. It might take patients learning about it and asking to be tested, if they think their symptoms fit.
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Mastocytic Enterocolitis
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plus a host of other diagnoses
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05-31-2015, 07:13 AM   #2
Tummyache
 
Join Date: Oct 2011
Location: Austin, Texas
I have been looking at CSID and wondering if this is really what my answer is, too. I definitely have a problem with sugars/carbohydrates since I was born [never breastfed] . But, getting a GI to diagnosis me or even consider food related digestive disorders seems impossible in my experience. Over the years I have seen 5 GI doctors and none of them were familiar with digestive disorders. For instance, up until recently, "celiac" wasn't even on their radar-- they poo-pooed it's existence for a long time--but now it's the "in" disease for them to diagnose! It was only the last GI in 2013 who finally did an upper endoscopy, and he was the only one to do biopsies--then he refused to do the enzyme assay testing I inquired about. He said he did not treat "those disease". [This is from a prominent GI in Austin, TX, no small town]. In the 1970-80's we made a huge effort to discover my digestive problems. I worked with a GI [who did a colonoscopy but nothing else, then said I had lactose intolerance and everything was normal]; a great old time country allergist who did extensive testing + food diary; plus was a patient for a biomedical research group at UT for over 15+ years [who dx'd the FI and many vitamin + mineral deficiencies]. At the end of that we decided that I needed to be 100% dairy free, wheat free, and that I am Fructose Intolerant [I was told to limit sucrose, fructose and sorbitol --no deserts, sodas, candy, etc]. Remember in those days, CSID was thought to be so rare that only about 1000 people worldwide were diagnosed. So, it was hardly on the radar at all + no intestinal biopsies were ever taken... and forget an enzyme assay---"what's that"?. So, the last GI in 2013 dx'd me with IBS, as have some of the others in years past, along with Lactose Intolerance, another of their favorite labels. Actually at 72 yrs young, I am pretty healthy and very active [I swim 800 meters/6 days a week], as long as I stay on my diet --but I am basically On-My-Own with no medical intervention. I've had to double check all my medications, as can't trust doctors to get it right to keep the sugars out. I carry medical info with me wherever I go in case of emergencies. It still amazes me how little doctors are aware of sugar intolerance problems! This is something GI's NEED TO KNOW ABOUT since they are the ones that do intestinal biopsies--that's how enzyme assays are done and these diseases are diagnosed. Please help spread the word.
05-31-2015, 02:00 PM   #3
Chickadee
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@Tummyache-- I'm sorry you've dealt with these symptoms for so long and that your doctors won't do the assay. A fairly easy way to test yourself would be to adhere to the CSID diet (stick to "foods tolerated by most with CSID"-- http://csidcares.org/treatment/diet/) for a couple of months and see if you notice a dramatic improvement.
07-02-2015, 11:17 AM   #4
Tummyache
 
Join Date: Oct 2011
Location: Austin, Texas
I have been reading all I can find on the diet relating to CSID and am impressed at how closely it resembles the diet I already consume by default. I have to be sooo careful what I eat these days. I am even having problems with phosphate preservatives in foods now [and am wondering if it could have anything to do with the phosphates needed in the pathway in the breakdown of sugar digestion?]. The more I discover about CSID the more it seems to overlap my sensitivity with sugars/starches/dairy. Two of my four adult children also have diet issue which appear related to my condition, and it could save them a lot of grief to know my diagnosis once and for all. Now, I am curious what part of the USA you are located in and where you were diagnosed?
07-02-2015, 12:54 PM   #5
Chickadee
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I'm near DC (and was diagnosed in my area), but you might want to try contacting QoL to see if they know of any doctors familiar with CSID in your area: http://csidcares.org/contact/. If not, you could bring the info into an open-minded GI. The gold standard for diagnosis is disaccharidase assay, taken through small intestinal biopsy. Any GI can do that, but he or she might need to do a little research on the procedure. I was the first patient for whom my doctor had done the assay and her first CSID diagnosis. Most adult GIs have no experience with the condition.
07-21-2015, 06:00 PM   #6
Tummyache
 
Join Date: Oct 2011
Location: Austin, Texas
Just made an interesting discovery! I uploaded my DNA raw data info from 23andMe into Livewello and got their health info read-out on the SI gene for CSID. I test positive on two SNP's for CSID -- one is homogygous [a double positive, and the other is "hetero", split]. Evidently, only one deviation is needed to be diagnosed, and the "homo" is a STRONG positive. So, now I definitely have ammunition to take to a GI to get the endoscopy done so they can tell me which of the 5 kinds it is and hopefully get some help with my diet. Yah! I feel vindicated! Also, one of the groups gave me the name of a GI in Austin TX, as you recommended, that knows something about CSID....so there is hope.
07-21-2015, 06:54 PM   #7
Chickadee
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Great!
09-13-2015, 01:03 AM   #8
Gene255
 
Join Date: Sep 2015
Just made an interesting discovery! I uploaded my DNA raw data info from 23andMe into Livewello and got their health info read-out on the SI gene for CSID. I test positive on two SNP's for CSID -- one is homogygous [a double positive, and the other is "hetero", split]. Evidently, only one deviation is needed to be diagnosed, and the "homo" is a STRONG positive. So, now I definitely have ammunition to take to a GI to get the endoscopy done so they can tell me which of the 5 kinds it is and hopefully get some help with my diet. Yah! I feel vindicated! Also, one of the groups gave me the name of a GI in Austin TX, as you recommended, that knows something about CSID....so there is hope.
Hi, Great to hear you have had success in your diagnosis. I was looking on Livewello for the SI gene report and can't seem to find it. I uploaded my data last week and have been searching all over their site for it.

Is there anyway you could tell me exactly where to go to get the SI gene report? thanks
09-30-2016, 04:13 PM   #9
kimmidwife
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Can anyone reccomend a doctor who really specializes in CSID?
One of my daughters has been diagnosed with it but I am not 100% convinced that is her real issues. Our GI is very new to it and is trying his best but I am looking to take her for another opinion.
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Crohn's Dx'ed Sept 08
Allerg Imuran Sept 08
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Methotrex Oct 09-Aug 11
Pentasa stopped - nosebleeds
EENOct 31 - Nov 28th. Too hard!
Retried Remicade Dec 11
Stopped due 2 Anaphylactic Reaction
LDN Jan 2012-June 2014 Got My daughter back!
New secondary diagnosis: Gastroporesis Dec 2013
Lost remission June 2014
Started Entyvio April 2015. Decreased to every 4 weeks October 2015. Praying for remission.
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