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

  • Amanda

    You may contact me directly at jayandbrandi@windstream.net.

    Then maybe we can arrange a phone conversation.

    Hang in there! My daughter is almost 8 years old & has been diagnosed since 20 months! You can figure this out!

    Brandi in North Carolina
  • I realize it has been some time since the last post on this thread but my son has been diagnosed with CSID for 3 months now and I have been struggling to find information. I read the posts but it is a lot to take in. If anyone is willing to give me information via email I would so greatly appreciate it. We are taking Sucraid and watching his diet but the symptoms so not seem any better at all. We are also trying to find a doctor and dietician who can help us. So far no luck there either. Florida doesn't seem to have to have very many cases of this.
    Thanks,
    Amanda
  • In reply to EStewart:

    Hi Erin,

    This is Barbara from the Pregnancy and Newborn Health Education Center at the March of Dimes. I'm so sorry that your little one is suffering so much. If you read other posts on this thread, you will learn what other Moms have done to help their children with CSID. In addition, I will send you an email with a long article from the National Organization of Rare Disorders, with lots of good information.

    Hang in there and feel free to keep asking questions.

    Best,

    Barbara
    Health Education Specialist
  • Erin-

    First of all, I'm sorry that your son is so unhappy at night. I know you must be exhausted. My first question would be is he having diarrhea? If he is, it is most likely to due sucrose. If it is bloating and gas issues (the most common thing to keep him up at night), it may be starch. You may want to try Kirkman Enzymes. They help with starch digestion, Sucraid only helps with sucrose. Website is kirkmanlabs.com. My daughter is on EnzymeComplete DPP IV with Isogest. She started Sucraid when she was 22 months old and still struggled with gas and bloating consistently until we added the Kirkman enzymes when she turned 5. She takes capsules, but they just recently added chewable enzymes to their products. Obviously, talk to your dr before starting this, but I can testify they have helped my daughter tremendously. You can always order a trial size and see if they work. I had some reservations since they are not FDA approved because they are sold as supplements. But Addison's neurologist said that Kirkman is a very reputable, safe company.

    Another thought is that his gut just may need time to heal. Many parents have had success with aloe vera juice to heal the gut. We have never tried it, but if he is miserable, it may be worth trying.

    It does get better. I know the diagnosis is incredibly overwhelming. There's lots of good info on the sucraid website. Do you have a dr and nutritionist who is helping you figure it out? I have never had a dr nor a nutritionist who have treated another child is CSID, but they have helped me understand basic nutrition.

    It's not easy, but you can do this!

    Brandi in North Carolina
  • I am hoping that a mom out there that held their baby while they cried at night while all the doctors said there was nothing wrong will be able to help me! My son Cody is 22 months old and recently diagnosed with CSID genetic mutation A. I am looking for anyone who has any information to share. My sweet boy is great during the day eating only things less than 2 grams of sucrose and 0 grams of starch. He takes sucraid with every meal. At night he screams in pain. Please help!
    Erin
  • Hi all-

    Haven't checked on this site in a long time. My 7 year dgtr has CSID , been diagnosed since she was 20 months old, so been doing this awhile. To answer some questions floating around,

    1. By-Myconase is the European drug that some CSIDers overseas are using. Don't know anything about it besides the name b/c Addison has been on Sucraid for years.

    2. QOL Med is under new management. The new executive staff there is very patient-centric. Check out the updated Sucraid website to contact them with any questions or concerns. They are very willing to work with your insurance to figure out how to get sucraid to your child.

    3. Addison also takes EnzymeComplete with Isogest from Kirkman Labs. These supplements help with the starch component of CSID whereas Sucraid helps only with sucrase. We have been on these for almost 2 years and they really help with bloating and gassiness.

    Most of all, I just want to say that CSID is manageable. It is hard, but doable. Addison is having other health symptoms that we are battling now (possible mitochondrial disorder), so I am glad that we have CSID figured out. There are days when Addison cries about her inability to be like other kids, but most of the time, it is just life. She is a happy, well-adjusted kid!

    I'm always willing to talk with new parents to offer support or encouragment.

    Brandi
  • Hi everyone, I am 40 year old female and was diagnosed with CSID when I was 3. I live a relatively normal life now since I found a really fantastic dietitian when I was a teenager. I have since been diagnosed with lactose intolerance with is a side effect of CSID but does not necessarily present itself until you are older. I was diagnosed with this at about 25 after a couple of years of suffering.

    Anyway, I have a lot of information about what foods can and can't be eaten and some great recipes also. My mother found that for a lot of recipes that have sugar in them (and no other intolerable sugars) this can be substituted with powdered glucose.

    From what I understand, nearly every person with CSID everyone has different tolerance levels to the different sugars.

    Now let me explain the different symptoms of each different one should you consume too much:-

    * Sugar - Diarrhea
    * Starch (Maltase) - Wind, Bloating, swelling causing pain 48hrs
    * Sucrose - Severe stomach pain/cramps

    This can help you identify which sugar that has been consumed to cause the problem.

    The good news is this can be treated with diet alone (I have never used sucraid) very successfully. I live a normal life, eat out at restaurants and at friends places without too much hassle.

    Best with the assistance of a good dietitian. The first thing you need to do is take your child off all sugar, sucrose and starch (maltase) & learn how to read the information on prepackaged foods. Then you need to gradually reintroduce the sugars at very small amounts until you find out how much they can consume. Mine was done in 4 week blocks and I can now have 6gms of sucrose per day, 60 gms of starch per main meal and very little restriction on sugar (but don't eat a lot of sugary foods anyway).

    If you can get a dietitian who is willing to help you with getting data on how much sucrose and starch is in different natural foods is the best way. Alternatively, I am more than happy to send you a copy of my lists but they are nearly 30 years old and do not include everything.

    Ok a couple of other tips. I use metamucil daily as because of the lack of fibre that can be obtained through this diet, that helps with the diarrhea. The other thing I keep on hand is DEGAS, I don't know if it is called that everywhere but it is a small minty capsule that helps with wind and bloating. It can be bought over the counter without a script. The other helpful thing to have is an antispasmotic, this helps with sucrose overdoses.

    If you have any questions or you want some help please ask, I have been self managing CSID successfully for 30 years now. I am more than happy to help others as I know the grief my mother and I went through to get this managable and would not like to see others suffering unnecessarily.
  • Hi Strixx! Welcome to Share!

    Thank you so much for sharing your experience and advice. I know it will help our CSID parents.

    I hope that you find someone to help answer your questions - many of the folks here are just beginning the journey, but they need people to lead them and hold their hand. So thanks for offering your assistance!

    Hugs
    Jackie
  • Hi Stixx,

    Welcome to Share. I am glad that you have found this place. Thank you for the tips and I hope the community is a place where you can learn, laugh and feel comfortable.

    Take care,
    Ellen
  • Hi. I'm Strixx. I'm not a mother. However, I found this thread and figured I'd offer myself to help. I have CSID. I'm 19, and I STILL have issues with it. I was diagnosed not too too long after it really came to light in the medical field. Right now I'm on the hunt for people older than myself to find out how to deal with certain things, what to expect in the future, etc.
    But I also want to help kids younger so I can do the same for them.
    So:
    Things that I've learned.
    - When you get to a certain age, sucrose is almost impossible to avoid. Eventually your body just...kind of ignores it. But you get a LOT less nutrition out of foods. So you have to supplement. (don't ask me with what, i'm still experimenting )
    - Don't take vitamins! And if you have to, research them. A lot of them have Sucrose in them. They don't tell you that till you've lost 10 lbs and end up in the ER
    - Sucraid is not for everyone. But by all means try it. It made me feel terrible.
    - You have a bunch of upper respiratory issues. Still not sure why.
    - You end up getting misdiagnosed for things like ADD/Depression because of undernourishment. Take it as a sign that you're missing something from your diet. But don't give in and try psychothereputic drugs right off the bat. You probably don't have whatever the doctor thinks you have.
    That's all I've got really. But I can answer any personal experience questions too I guess.
    Hope I've helped :cool:
  • Hi, I'm Mum to Matthew aged 4. He was diagnosed this summer and also has milk protein intolerance as well. He is completely sugar and dairy free and cannot tolerate anything that contains more than 1% sugar. His Dr's don't think he's producing any of the enzymes as we tried a very small reintroduction - 6 peas per day for 3 days and his symptoms returned. The tried a few slices of carrot and the same thing. Also severely intolerant to milk but remain hopeful that this may improve. We can't get Sucraid for him as reliant on the UK's NHS service and the annual cost is prohibitive for a condition that can be controlled by diet - no matter how limited. Is there anybody else out there in the UK with a CSID child cos I'm feeling very alone? Have red lots of messages on this site and already feel I've got a lot of new friends. I struggle with packed lunches as my son likes to have sandwiches but I find the fillings difficult to vary as can't give him cheese etc. He tends to have egg or "real" (not processed) meat. I've laso heard that some Dr's in Holland have devised an alternative to Sucraid which is much cheaper and just as effective, but can't find the name. Does anyone else know of this drug? Thanks.
  • In reply to TaTa4:

    Thank-you Tata...dietician helped some today but we are having trouble with insurance approving the Sucraid...no way we can just pay full cost. Trying to stay positive. Thanks not only to you but to everyone that's replied to my post. :smile:
  • Johnnie, I am sorry to hear about the unclearity of your daughter's diagnosis. Very frustrating I remember hearing all the possibilities from the pediatrician, but it wasn't until the colonoscopy and endinoscopy (spelling) that the gastrionologist was certain it was csid. There are so many levels of this. I got a packet from NORD and that helped a little to remind me of the different levels. When we put my son on Sucraid we saw a difference immediately. Even though we were happy to finally have a diagnosis. We were even more happy to have something for him so he could eat a little fruit and berries, sugar alcohols, and pizza sauce and ketchup for his meat with the sucraid. So it might be worth a try. I hope you get the proper help. It took a few visits with the dietician to work more through this too. I hope this helps.
    Tata4 now!
  • Johnnie- I am so sorry for your frustration rightnow. I know you have tried so many doctors. It does sound like he is looking for an answer maybe he knows another specialist that might be able to help?

    Take care,
    Ellen
  • Johnnie - Sounds like you aren't getting very far right now, huh? I wish I had some experience with CSID, or rather I wish your dr had more experience with it. I hope one of the other CSID mom's can chime in soon and give you a little help.

    Hugs,
    Jackie
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