Congenital Sucrase-Isomaltase Deficiency

After almost two years of battling stomach issues with my baby girl Quinn... after almost two years of chronic diarrhea, slow growth and multiple hospilalizations for GERD and diarrhea. After malnutrition, g-tube and stomach cramps, my daughter Quinn was finally diagnosed with something that explains all of her issues. Unfortunately, we still have to figure some other issues out like whether or not she has Cerebral Palsy. She had been tested multiple times for malabsorption. She has had her blood tested more times than I can count. I think I've seen every inch of the inside of her body. But nobody could find out what was wrong with Quinn. Finally, a mom told me to test Quinn for Congenital Sucrase-Isomaltase Deficiency (CSID). The GI did not believe that she had this since it is so rare, but he tested her for it anyways and she tested positive!!!! The disease is so rare that it only effects 1157 people WORLD WIDE! The good news is that as long as she sticks to a very strict diet and takes her medication (sucraid) before and after each meal or snack, she should stay healthy. The disease can cause colon cancer if not treated. It is genetic. I was just wondering if anybody knew of any other kids who have been diagnosed with this or have something similar to this. I have searched the net for about a week and I can't find much info about it. Any information would be helpful. THANKS!!!! -Sarah

126 Replies

  • What hard work and dedication. I know a lot of parents will benefit from your knowledge! Thanks for sharing this!
  • Wow, what a great resource for parents.
  • I did not realize how long it has been since I posted something here! However, I have been hard at work writing a book for parents with children who have CSID.

    I am here to announce that the book is finally finished!

    Here are the details ...

    I have worked for over 4 years to create an easy-to-use reference and recipe guide for parents of children with CSID. Personal research and many hours on the phone with the administrator of have allowed me to create a
    comprehensive beginner's guide. By ordering my book you will be helping your own family and supporting my efforts to get my book into the hands of medical professionals and key people with the power to educate insurance companies, dietitians and others about CSID.

    Here is the summary of my book:

    "A Place to Start Without Sugar or Starch" provides valuable insight into the causes and problems associated with the recent influx of children suffering from carbohydrate malabsorption or disaccharide intolerance.

    Written by a mother with two children who have CSID (congenital
    sucrase-isomaltase deficiency), the reader will find the personal and simplistic approach refreshing and informative.

    By providing a balance of personal stories, important medical information, alternative medicine practices and easy-to-follow recipes, this book is truly "a place to start" for parents, doctors, dietitians and caregivers. Although the book is directed at parents, anyone desiring an understanding of managing dietary limitations will find this book helpful.

    Chapter topics include:
    •food intolerance causes and symptoms
    •sources of sugar and starch in foods
    •an overview of sugar substitutes
    •digestive support supplements
    •the importance of breastfeeding and first foods
    •the differences between "low-carb" and "sugar-free" diets and the need for
    essential carbohydrates
    •shopping lists, menus and recipes

    At this point I am about one week away from placing my initial author order for books. The more orders I receive by then, the higher discount I will get for the books. It will also allow me to use proceeds to purchase additional books for distribution to doctors, health-food stores and for book-signings.

    In exchange for helping me with this first order, I am taking $5 off the retail price of $22.99 for the first 150 books I can sell before placing my first order.

    To order directly from me you may go to my blog at and click on the "Intro Pricing for Book Orders" tab at the top of the page.

    My desire is to help as many families as possible to be able to focus on caring for their child instead of searching for answers that are difficult to find.

    Here are some quotes by parents who have benefitted from my efforts:

    "Gavin LOVES the almond flour muffins and eats several a day. I don't know what I would have done without the recipes you helped me with." ~Kim S.

    "I would just like to thank you for this (resource). It has been my only guide as I try to figure out a disease that no one knows a lot about. You have saved my son many hours of pain and his mother many tears. Thank you!" ~Erin S.

    "I really love your web site and I purchased your book ... I have a medical foster home with four children under 5 all with food allergies of some kind ... I look forward to enjoying more of your recipes when I have time. One grateful
    mother to another." ~Michele S.
  • I'm so glad to hear that your son is doing so well!

  • My son was diagnosed with CSID at age 2 1/2. He came to us through foster care at age 1 1/2 and that first year was so hard. The distented belly and the watery diarrhea. Since he was born addicted to various illicit drugs and alcohol, the doctors first thought his health problems came from these substances. Then they thought it was allergies and put him on some really tough elimination diets. Finally a pediatric GI did an endocopy and colonoscopy in the same procedure and through samples of the small intestine found the problem. A diagnosis and the Sucraid medication made all the difference. Within a couple weeks he potty trained himself (now that he could control his bowels). He has had all the early interventions for his medical and developmental issues and is now a happy 6 1/2 year old. He is considered caught up developmentally with his peers, and does well in school. I am so thankful for the amazing medical interventions and testing out there!
  • Hi Jeanniep888-

    I pray you get more answers from the doctor. Once you do, post again here so maybe us CSID caregivers can help you. My 8 yo daughter was diagnosed at 20 months, so I've been doing this for several years and would love to help in any way I can.

    This diagnosis is not life-threatening, but very life-altering. Figuring out the diet and treatment can be tricky, so please reach out and let those who have walked before help you!

  • Hello and welcome to Share! I am so sorry to hear of your daughter's diagnosis, I hope that her appointment shined some light on it and some things you can do to help her.
  • My daughter 14 years old was just diagnosed with CSID after years of
    Painful "attacks" similar to gallbladder pain. I am so confused because she does not eat any sugary snacks at all. She does enjoy her pasta and bread but seems to have the most pain after eating things like cheeseburgers and pizza. We are going to see the GI doc today for the follow up
  • ~Hi all CSID moms! ( & also, hi to all CSID-ers!)
    It's "faeriemum," here:)

    My son is 13, and was diagnosed w/ CSID w/ the small bowel biopsy, at age 18 months old. If ANYONE has ANY questions for me~I really do understand how amazingly confusing this illness can be & how hard it is, too, trying to find healthy, safe foods, when you're a busy mom. (I have 2 sons~1 w/ out CSID & I'm recently, a It's very tiring, still, & at age 13, my son wants to do a lot on his own & can sometimes forget,to take his 2nd. dose of Sucraid~which he's been on, since month after he was diagnosed.) Sucraid saved us! ( w/ a physical disabilty myself~baking is not my forte'~to say the least. I try, but it's not often enough. I do know of a few great companies, to order "snacks" from , at least~so just write & ask & I'll reply ASAP! I'm suspected of having CSID myself-yet no time for diagnosis~which is not too smart of me~just that Dr. that does that, is far from our home.(& I'm on my own now, too...)
    Wish I had more time to be on here~love this website~it's a keeper...but during a yucky divorce, I was too busy~even though I def. needed help from you all, I'm sure!
    My biggest issue, w/ an older child w/ CSID~is the school he does miss(more than other kids) & the way it's so easy for him to catch viral infections & or sinus/upper resp. infect. anyone else dealing w/ same?! Can you let me know? Would be very grateful! My son has also been diagnosed w/ asthma & now, ADD. (I was told I had ADD, after I had my 1st. son~always suspected it, though.) Any others w/ CSID, have same w/ ADD/ADHD? I'm told it's common w/ multiple enzyme deficiencies. Who knew...not I !!! My best to all of you~must go do battle w/ the school my son's in~he has an ISP plan/ classified w/ special needs~yet they "dropped the ball" this yr.~it's been quite a struggle for breaks my heart. CSID is not the easiest thing to explain to the world around us...that's really the hardest part, we think. HUGS to all of you & your children!
  • In reply to m gordonm gordon:

    Hi there!
    I know this post is rather old, at this point, but I am having these exact problems w/ my 13 yr. old son, right now! (sinus infections & easily gets viral infections~does anyone else w/ CSID??)

    If anyone is out there-if YOU are, and have any advice w/ those issues & the issue of missing much school & what you did to deal w/ it, I'd be SO grateful !!!
    I thought this would get easier for my son, but not much is "easy" about being 13 w/ CSID, I suppose...? I feel so helpless sometimes.
    Thanks to ALL of you here-who have gotten me through a lot-yrs ago. (just back on here, 2 1/2 yrs after an icky divorce.)
    Have another son, but he doesn't have CSID~though I'd like him tested, due to Dr. thinking he has IBS, now, at age 11.

    My best to all!
  • Hi ugtalvt-

    Sorry I don't know your real name! My Addison will be 8 on March 27th (same day as your son!) and she was diagnosed at 20 months, so we have been doing this a long time!

    As far as the bloating and gas, my experience has been that it is usually the starch that causes these symptoms and the sugar that causes diarrhea. Is he good about following a low-starch diet? Do you know your isomaltase/palatinase/glucoamylase levels. If your child was diagnosed by a small bowel biopsy, you should have these numbers. They will help you figure out how much starch (carbs) he can have.

    The Enzyme Complete brand of supplements from Kirkman Enzymes has helped us tremendously with bloating and gas issues. We didn't start them until Addison was 5, when she could swallow pills. Now the company makes Chewable enzymes, which may be a great option for your son.

    Hope that helps! I know you must be exhausted from him still feeding through the night.

    We live in an urban area and there are still not truly knowledgable doctors. I have never met a dr who has had another CSID patient. This is definitely a disorder that has to be almost exclusively managed by parents. Sad, but true.

    Welcome! you may want to join the very active yahoo groups dedicated to CSID.

  • Hi all,
    I am new to this, so please be patient with me. My son was diagnosed with CSID at 4 months old after numerous hospital stays, tests, surgeries, scopes, etc. He has been taking sucraid since August of 2011 and has been doing better. He still has the distended tummy and suffers from alot of gas especially at night it seems. We still get up every 2 1/2-3hours at night to feed, he will be a year old on Tuesday 3/27. There are alot of questions that i have and i live in such a remote area that finding doctors that are knowledgable about this are very slim. So if some of you don't mind answering questions I would love to ask some. Thanks!
  • In reply to WillandJonathonsmom:

    Hi Amanda,

    I'm sorry your little one is having such a hard time wiht CSID. I will send you some information via email which should be helpful, especially combined with the information that you are getting from the women on this site.

    Hang in there,

    March of Dimes
  • In reply to WillandJonathonsmom:

    Hi I am Deb and I have had CSID my entire life. I was diagnosed at 18 months of age. I am currently 43 years old. You can also contact me at my cell phone number @320-583-1063. I do use sucraid, and it does work for me. However, if I consume too much sugar then it is not as effective. If I eat sugar without it then I get sick. The more I eat the sicker I get.
    My e-mail is

  • In reply to WillandJonathonsmom:

    My son was diagnosed 2 1/2 years ago. He will turn five this summer. Sucraid never really had much of an effect, but a very limited diet where we control both sucrose AND maltose has worked wonders. Feel free to email me directly and I'll give you my number if you want to chat directly. I have had some success in altering recipes etc. and would be happy to share. Our dietician here in Pittsburgh put us on the right track, but the leg work is something you will have to do as every child seem to have a different tolerance level. It WILL get easier -- I promise.