Congenital Sucrase-Isomaltase Deficiency is a rare disorder in which sucrase is not produced in the small intestine.
Post by sophie7 on 15 hours agoFirst I have to apologize because English is not my native language ... And, I have a long long story. Sucrase-isomaltase deficiency / CSID & lmaltase-glucoamylase deficiency MGAM ? After many years with problems such as nausea, vomiting, stomach pain, diarrhea... after years in in obs.- suspected diseases, wrong diagnosis, superficial doctors, tests, after much torture, loooots of hours hours / days / weeks / months / years of spending in searching on the internet and in literature ... after the doctors raised their hands and told me that they cannot help me and I'll have to find out myself what I have or have to live with those problems – like vomiting twice a week, nausea almost 24/7. I was, and am, desperate, because no one can help me, the worst – there's no physician who can or want to help me ...they just told me to let myself looking for answer/diagnose... When I asked if they could recommend some center, sto direct me where I could go or look for information, they told me that they don't know anything.. Until then, we define – no, I define by myself! without anyone help! – that I have problem with some food - but what food ... The doctors decided there's no sense do further testing. I was too costly to them ... I thought, I wish I had/have enough money so I could pay it myself ... but I don't, so, what can I say; depression&anger were and are my motive. But I do not have money to pay all those tests, and that's that. So, they left me with the same problems I had from early childhood. And which I never managed to solve. I had so much hope, faith, but my hope always broked with their words ''I can't help you, I don't know ... it is extremely rare ...i don't know ... '' The largest expert in children metabolic disease/disorders in Croatia told me this: that he does not know, that he cannot help me, he did not know where I could go for further diagnostics, world/EU clinics, centers ... he does not know, and he said there's no sense to further investigate. His colleague, also very appreciated, she told me the same. ''You have to find it itself ''. '' We've used (and I quote) all diagnostic possibilities in Croatia and now, if you want to solve it, you'll have to seek help abroad by yourself ''. I really sorry that I did not secretly recorded him and her !!! Just to stay in for the next generation ... Awfull, because I live 35 years day by day on the verge of vomiting... and for the last few years, after wheat consumption, and diarrhea. And I do not have celiac disease. I did HLA-tests, tTg and endomisyal antibodies, all tests came back negative. In addition, when I eat gluten-free wheat, I react equally – strong nausea and diarrhea. The problem, obviously, is not gluten. I was forced, after a phase of depression, to self-explorate. Make my own scientific work. After a lot of effort and time, I came across some information and some forums and some scientific information ... What's really odd ... immediately before or after I'm nauseated, fingers of my left hand smells like garlic, sometimes like MSG or gas. And because I live alone, and don't eat garlic ( always felt sick, so I don't it it ), have no garlic at home... those doctor's stories '' maybe you touched garlic '' doesn't count on me. Dear biggest Croatian expert told me that it could be '' olfactory hallucinations '' - what would mean that those garlic-smell-fingers are just hallucinations, and that's not true, because my friends, family and collegues can smell the garlic smell if I put my hand under their noses: from co-workers, friends, family ... and a couple of them are even nurses, neurologist etc., and I deeply suspect that I have such an impact on them that they are hallucinating too . Prior they teased me ... but as I pushed my fingers under their noses, they stopped to tease me because they figured out that I'm not fooling around with them. I red forums, and found people with the same problem: fingers-smell like garlic and nausea; it is interesting that some of them wrote that they are sick when they feel the smell of garlic,, they think they have nausea from the smell - none of them connected fingers smell like garlic and nausea – they never thought it could be two symptoms of one disease / disorder. Some of them exclude gluten from their diets ... there's a story about celiac disease and non-celiac disease gluten-sensitive probelms ... however, most of them do not have celiac disease. And I react the same on the gluten-free wheat. When I exclude wheat ( and those gluten-free wheat too ) I reduced symptoms and garlic smell almost gone, and diarrhea is completely gone; I knew it was not celiac disease, nor any issues related to gluten . Gastroenterologist prescribed me Ensure Plus ( containing starch&maltodextrin ). I think it is important information, because ... slowly, over the months, I started to feel worse and worse. I was tired of food combining, I had enough. I was hungry from eating vegetables, fruits, fish and meat ... I missed carbs. I ate rice, potatoes and corn. I've noticed I had problems with cooked potatoes, while baked I tolerated more. Like with different corn products. There were days when I was ok, and there were days when I was awfull. I ate barley and buckwheat, with them it seems I didn't have problems. Or maybe I had, but another day or so, so I haven't noticed, maybe because I wasn't thinking about that. From corn-flakes I had nausea. With corn-grits rarely. With dairy products I have never had any problems. I don't like milk, and yogurt, but I like cheese; have no problems with any of dairy products, except lots of gastric acid after drinking milk. So I avoid milk, since I was 8 or 9. Basically, for the last two weeks I ate a lot of potatoes and corn meal... I had 24/7 nausea, stayed at home because I felt so sick, and I drank Ensure, because i didn't ate well. Desperate, I wrote all possible combinations of words into a search engine, ran into an article, and I thought, this could be it! And it is the absence of the enzyme sucrase-isomaltase and maltase deficit. However, the most common symptoms are diarrhea and bloating, stomach pain, but there are those who has nausea, vomiting ... all kinds of gastrointestinal problems. It is the absence or lower activity of certain enzymes in the intestines that processed sugars and starches from food ( carbohydrates ). And, it's not true that there is no laboratory tests in Croatia ... not much, but they do some of them. I just had the appointment with a new gastroenterologist; he is recommended to me by his collegue who openly said that he had no idea but he sent me to this one who might know something. Anyway, this first one sent me to all kidns of –scopies with mutiple biopsies because he doesn't know what it might be ... but do all these rather than seeking the appropriate enzyme, I thought - and I think - is meaningless. He had no idea what it might be, so he would like to play games with my intestines, stomac etc. No genetic testing or enzyme activity except for CD and Whipple disease. I really can't believe that I have Whipple disease ... I know, all people thinks the same when it comes about disease, but, really, Whipple's disease – how on earth I could have Whipple's disease. And for how many times should I go on EGD with biopsies, just because they don't want make more test at the same time? I had 2 EGD's already ... because of these nausea ... I don't know what they were looking for ... they found nothing. So now again do this again, but partially, no thanks. Yesterday I ate rice, because I still had a risotto with vegetables form the day before. I decide to exclude cereals, potatoes, rice, beans, peas ... foods that contains a lot of starch and maltase. from my diet. I will eat meat, fish, vegetables and fruit . Today my breakfast was fruit yogurt and orange, and my lunch was roast turkey breast and cooked spinach. I do not expect thatI'll be better immediately ; I know from experience that it takes some time to all these compounds excrete from the body. and, sometimes I have smelly pee - something like sulfur, orlike MSG from food... I know, it sounds also psycho, but, what can I tell you, everythings sounds like that ... if I listen those doctors. Well, if you have something like that, or you know / have heard of someone who has something similar, or the same problems like me, symptoms like mine ... contact me, please! Thank you for your time!
Hi everyone. My name is Honey and I am a mother with a son who has CSID. We have been on our own, basiclly, handling CSID since he was diagnosed at 6 weeks. He only has .3 enzymes to digest any sucrose, so any fruit or veggies with 0.3/100g of sucrose he can not eat with out sucraid. Even with the sucraid he can only tollerate a little with a 24hr load. I am so happy to find this forum because I have not talked to any other people with this condition. My son also has 4 out of the 5 enzymes depleated, but he can tolerate lactose well. He is also diagnosed with autism. I would love to talk to someone who has been dealing with this condition, because my son does not talk too much, so does not communicate when he is in pain. You can email me at firstname.lastname@example.org, I would love to here from you. Thank you.
My 10 month old was just diagnosed (FINALLY) with this and was wondering if anyone has found an inexpensive but sturdy Medical Alert bracelet for infants? I don't want to spend a lot on one now since she is so tiny and will grow out of it quicker. I have googled it but geesh! on prices! Beleive me I will probably be following/posting quite a bit since this is all new to me! Thanks!
Well we are now going to be two in a month and still waking up screaming in the nite she will soon start a feeding program that will help her eat more and learn what to do in place of formula we are still learning what she can and can't handle I do know startch is a big problem for her and very lil sugar like 7 or less grams a day
Hi my little one would scream thru the night as well . Solutions to help were simethicone gas drops ( like mylicom), tummy on moms tummy skin to skin contact and the right diet combo for her. Formula is a problem so you have to find right one without starch and sugar (and without lactose if that is an issue. Yahoo has a csid group were some moms have tried diff formulas you could ask about. Veggies have starch and sugar too you may need to monitor those. A great website that helps with starch and sucrose content in foods is www.csidinfo.com . I lived by it until I found out what kind of foods and how much she could tolerate (it started out as only foods containing less than 2gr of sucrose per100grms of food,and less than 10grms of starch total in a day. She is now 8 and thriving and sleeping. She can eat a whole lot more foods that she never could before --even to pizza and pasta now and again
I am also an adult with this and I too would be concerned about the starch that may be in the formula. SMURF-WOW you are the closet one to my age that I have ever run across with this disease. I am 40 so I have yet to meet anyone older than me. It sure was tough growing up in the 70" and 80's with this disease. At what age were you diagnosed. Do you use sucraid now. I would not be without it. I would be very interested in the information that you had gotten from when you were younger if you are willing to share. My e-mail is email@example.com Are you from the US. If so what state? Deb
We're here too, talk away
Hi my name is cory. Im 20 years old and have had CSID since i was born. Me and my oldest brother have it(there are 4 brothers total.) I have researched it and realized how rare it is and that made me want to talk to some other people who have it or have family experience with it. Please feel free to reply to this forum or to email me at Chelmsy@hotmail.com
Hi, I am Deb. I am 40 years old. I have had this disease all my life. I live a very normal, great healthy life. I have for the past 10 years been able to eat almost anything due to the invention of sucraid. This drug has been a miracle drug for me. It does work and well. The drug is extremely expensive and some insurance companies do cover the expense but if not there is a copay assistance plan that will assist you. It is not based on income. The plan is that no patient that has this disease will have to pay more than $75.00 to get the sucraid.
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.
Enrolling is easy.
After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.
Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.
Visit sanfordresearch.org/CoRDS to enroll.
Start your own! With a worldwide network of 8,000 users, you won't be the only member of your community for long.
Visit our Frequently Asked Questions page to find the answers to some of the most commonly asked questions.
Join Rareshare to meet other people that have been touched by rare diseases. Learn, engage, and grow with our communities.FIND YOUR COMMUNITY
Our rare disease resources include e-books and podcasts
Community leaders are active users that have been touched by the rare disease that they are a part of. Not only are they there to help facilitate conversations and provide new information that is relevant for the group, but they are there for you and to let you know you have a support system on Rareshare.