MARCH OF DIMES | MARCH FOR BABIES | NACERSANO

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
BearHugz

126 Replies

  • 2csid
    CSID in Our Lives
    Finally, I have found other parents who understand. My daughter Haley is 18. She was diagnosed 4 yrs ago with CSID. We spent yrs going from Dr to Dr. No one believed us, because she never looked unhealthy. One day she stopped breathing,turning blue at school. She was diagnosed with asthma. She started taking 12 meds a day:cough meds,asthma meds,steroids and stomach meds. At that time she was diagnosed with Whooping Cough. We started taking her to Pumonoligist thinking she had some terrible disease. We eventually found out that the coughing was caused by acid reflux. We finally found a Pediatric Gastro Dr at OU Children's Hospital in OKC, OK. It would then take about a yr before they did a scope and then another 2 months before she realized what it was. The Dr had only seen 1 case of CSID and that was 17 yrs earlier. The scope found polyps, acid reflux and a stomach ling that looked like hamburger meat and she was only 14. She started Sucraid, which along with the diet works well. We joined a study at the Children's Hosp in Houston, TX. They said she flatlined the sugar test and the starch test wasn't much better. Our insurance pays for most of the Sucraid, which is wonderful because our son, Andrew (16) was diagnosed with CSID abount a yr ago. He flunked the breath test, but has not had a scope done. Right now, he has been unable to keep anything down for almost 5 weeks. Our Gastro Dr doesn't think it's the CSID, so now we are waiting for some answers. Exhausted in TX.
  • LilasMom

    In reply to Sharonej:

    Re: CSID info
    Hi Sharon,

    My name is Lisa and I also live in Nevada. I read your post and thought WOW! We were told by the state that my daughter, Lila, was the only child in NV with CSID. Could you contact me and share some information on your doctors, nutritionists, etc. Lila had a wonderful doctor here in Las Vegas, who knew what to test for, Dr. Ammad Sheik, at Pediatric Gastroenterology Specialists. Other than that, NO ONE has heard of it. I'm planning on making another appointment with him, as it's been a year since her diagnosis. She still has loose stools, and sometimes bouts of diahhrea, but is on a very restricted diet. I'm hoping to get some direction as to her care as she gets older.

    Also, although Lila is only 23 months, I'm already working on menu ideas and recipes for her all the time. I'm especially working on baking recipes, as her 2nd birthday is nearing and I want her to have a cake if possible.

    I am in the Las Vegas area, if you're near, and would like to get together, please let me know!

    Thank you.
    Lisa
    wochinsl@yahoo.com :smile:
  • LilBrtt04
    My son has a carbohydrtae intolerance called glucose-galactose malabsorption. He drinks ross carbohydrate free formula (as jdacosta mentioned her little one does) and I add a solution of dextrose and water to it. I can not find ANYONE ANYWHERE online that has also dealt with this disorder. We went through so much to even get the diagnosis because it is rare. After every test in the world, numerous doctors and hospitalizations and trying every formula ever made, they finally did a reducing substances test on his stool and at 3 1/2 mos old he was diagnosed. Then we had a 3 week long stay at the hospital they did RCF and started getting sugar through and IV, gradually decreasing the IV sugar while adding sugar to formula, etc. He also has an IgA defiancy like manditorgerson was talking about. My son is getting older and we are introducing solids. I wanted to talk to someone else about what their baby ate/drank/WENT THROUGH at this age (7 1/2 months), but this is the closest I have come to finding someone in a similar situation just because RCF was mentioned....
  • LilasMom

    In reply to moderator:

    Re: CSID info
    Dear Jennifer and Pam,

    I've been visiting the CSID web site for almost a year now, and it has definitely been given an overhaul in recent months. It may have been down temporarily while getting a face lift, but it's definitely up now. I just checked. Here's the link: http://www.csidinfo.com/ :smile:
  • LilasMom
    CSID Moms
    Hello All! Wow, this is a great site! My daughter, Lila, was diagnosed with CSID almost a year ago. Lila will be 2 in November, and I have yet to meet another mother with a child with this disorder. At the time she was diagnosed, we were referred to a state agency for assistance, but unfortunately the nutritionist and dietician had never heard of the dissorder either, and we were told that she was the only child in the state with such a diagnosis. I was overwhelmed at first, but thankful for a diagnosis. Silly me, cried all the way home from the hospital, thinking she'd never have a birthday cake.....then I realized how lucky we were that her diagnosis was not something much worse. Then, I started researching! I'm always researching new food sources, and their composition, along with testing recipes to giver her a variety of options. Lila is able to eat some specific fruits and vegetables, but has NO enzyme activity and is NOT taking Sucraid. I would be happy to share information with anyone who requests it! Please feel free to contact me, and maybe you'll have some wonderful information to offer. Thank you. :grin:
  • m gordonm gordon
    Hi. I am amazed to find so many people with CSID. I wanted to give you all hope. I went through similar experiences as all of you. Son was hospititlized from 6 weeks old until 4 months old. Failure to thrive and not knowing what he has. That was the hardest part. We were so happy when they finally found this. He is a severe case and does not make any of the enzyme.They explained to me that there are levels of how much of the enzyme your body makes. Started sucraid in FDA study at 1 year old. He is doing great. He is now 15 years old and is 6 ft tall. He made varsity as a freshman on his cross country team. He loves to eat, like any teenage boy. Eats whatever he wants with the sucraid with the exception of overdoing on candy or sweets which would make any child sick. He only drinks milk and water. Can't handle fruit juices and doesn't want to take medicine every time he has a drink. I was told that as kids get older their other digestive enzymes, and the longer intestines get, improves the amount of sugar they can consume. As a small child he could not tolerate hardly any sugar, which changed as he got older. I know it is all so overwhelming. I have to say at this point the hardest thing is that he is a teenager and doesn't want to carry around a lunch box with the medicine that has to stay cold. It is more of a nusance in his life at this point but never a burden. He often just will not eat rather than carry the medicine. People always ask how he got so big and I always say milk ( which may be true he drinks tons of it) . I hope I am helping in some way and totally get what you are going through. I have not been able to get on the website either but do remember reading on it that often these kids have increased incidences of upper respiratory infections, which is true of my son too. He has a big problem with sinus infections which keep him out of school often. He also has asthma. None of my other relatives have this either, but his grandfather has cancer of the large intestine. My 19 year old daughter was colicky as an infant and has irritible bowel, as well as myself and 2 siblings. They say that it may be mild case of this. Feel free to contact me if any of you have a question or need advice. MGord1020@aol.com
  • moderator
    For Jennifer
    One of the other moms in this thread said her daughter was diagnosed at the age of 2. When you speak to the genetic specialist, ask if your son should be tested.

    Please keep us posted about how it goes.
    Pam
    Education Dept.
    March of Dimes
  • jdacosta
    question
    Hi, this is Jennifer again. I have another question, I also have a 2 1/2 year old son who has never shown any symptoms of this disease but was wondering if anyone knows if this disease can manifest itself now? I don't know if we should test him too? We are meeting with a genetic/metabolic disorder specialist next week as well as with a dietician who says she will teach me to read labels, give me recipes and even ideas for treats for birthday parties and holidays that my baby will be able to eat. As soon as I meet with them I will share any news that I find.
  • andros Gammos
    CSID
    Our Child has just recently been diagnosed with CSID after many months suspecting that he has issues with sugars.(fructose lactose and sucrose)
    We are now looking for help on how to manage the disorder.
    We have him off all sugar and low starch he is doing OK at the moment.

    Its been a stressful 12 months as the symptoms of CSID are both acute and dibilataing over time. Malnutrition creeps up on you.

    What treats to you give your child?

    regards

    Andros (Australia)
  • BearHugz
    contact information for parents of children with CSID
    Hello all. It is Sarah, the mother who started this thread. I have been getting in touch with a lot of people who visit here and find my thread. I am pleased to be able to help you and connect you with other families living with this. My email is still the same so if you would like additional information and to connect with other families, please email me.

    miqtpi@yahoo.com

    My daughter Quinn is doing great. It has been days since she has had a bout of diarrhea. Quinn is a little different than most since she does have a ton of other problems not related to CSID and she is g-tube fed therefore, diet is not a huge issue for us at the moment. But she can have blueberries and most fruits and meats without any problems at all. Dairy products are a hit too.

    Don't forget to email me so that way I can connect you to other parents living with this disease.

    Thank you for stopping by.

    -Sarah
  • manditorgerson
    to the parents of children with CSID
    Hi! My Name is Mandi I live in Minnesota,central, My son Trae was diagnosed when he was a week short of his 1st birthday. He just turned 9 two months ago. When we first were told it was a big shock. He was the only one in Minnesota with a confirmed diagnosis. My husband and I were also expecting our 4th child in the process of all this. We were told it was a genetic gene in the 3rd chromozone that didn't develop right. We also were told we both had to carry this resesive gene in order for our son to get it. We have traced back to our great grandparents and have no found a single soul that has CSID or symptoms of it. Our son some how ended up with this death wish we thought with no control from us. When we first found out we didn't know what to do. We were given a web site to check out and a dietician's number to call and sent on our happy way. I followed the diet and no luck of anything changing. I then looked up the web site. What a relief I contacted Mary and she saved us form this nightmare. We were givin the wrong diet. She also told us about Sucraid. My son did use Sucraid for a year or so and we took him off of it. We watch his diet very closely. He is a 3rd grader doing birthday parties and sleep overs like a normal child. We also were lucky cause when we found out that he had CSID the Atkins diet was a big hit and alot of items came out sugarfree. Trae did have another test done when he was 2 to confirm the findings from the first test indeed he does have CSID we did also find out he has and Immune difficency as well. Immunoglobin A is (IgA) is missing, which caused him to be very sick as a child. He also is unable to form tears to the full extent, and low amounts of saliva as well. He is a healthy growing boy. He is active in alot of sports and he is small but that also has to maybe with genetics as well. I wanted to share my story cause know I can tell someone who truely understands. Granted I have alot of unanswered question's but most important I have my son. Also my youngest son was tested as well by a just a simple blood draw and he does not have CSID and either do my older sons. Wether or not they carry the gene we will find out if they have children. Or they can test for it when they are older if they would like. This is not a death sentence in our house any more its just a way of life.
  • moderator
    CSID info
    Hi, Jennifer: I haven't been able to get the CSID info Web site either. Perhaps it has closed. Sometimes families start support sites and then find they require more time than they have to give.

    Wishing you the best,
    Pam
  • jdacosta
    Day 2 on Ross Carb Free Formula and no poop, never thougth I would be so happy over poop!
    Thank you for the information. I also wanted to let the other families know that my doctor sent me three articles on CSID and there was some information regarding sucrose free and sucrose restricted diets that can be helpful if anyone wants me to forward the articles I will.

    I was also wondering if anyone has been able to access the www.csidinfo.com website? I have tried a few times and nothing comes up and when I called the number it is no longer in service. If anyone has had any luck please let me know how you were able to access the site. Thank you.

    Jennifer
  • moderator
    For Jennifer
    Welcome to Share! I'm sorry to hear about your son's diagnosis, but the good news is that you've found a good doctor and that the disease can be managed.

    If you haven't already done so, you may want to read the other posts in this thread for information and support. Here are some links that may also help:

    A description of the condition with links to other sources of info http://ghr.nlm.nih.gov/condition=congenitalsucraseisomaltasedeficiency This comes from the National Institutes of Health

    Madison's Foundation, a support group for families http://www.madisonsfoundation.org/index.php/component/option,com_mpower/diseaseID,663/

    Hope this helps. Wishing you and your son all the best,
    Pam
    Education Dept.
    March of Dimes
  • jdacosta
    Help! Newly diagnosed baby
    My name is Jennifer DaCosta and my 11 month old son, Austin, was just diagnosed with CSID and my husband and I are trying to get in touch with other parents who have children with this rare disease in order to get some answers to questions as well as ideas on what our son can eat.

    We live in Memphis, TN right now and have only been here for about 7 months so we don't have an extensive network of friends, resources or family here to help out. We are seeing a pediatric GI who is great and has been very helpful trying to get as much info but has very little experience with the disease. I just got some of the Ross carb free formula and I have to add fructose to it and we are waiting to get together with a nutritionalist some time next week. Our Dr has requested a sample of the Succraid but he hasn't received it yet. He also asked us to stop giving him food for now and just give him the formula.

    We have a lot of questions and we aren't really sure where to begin. Can anyone let us know how you are managing this disease? Does your child take the Succraid and if so, how is that working out? Does your insurance cover the drug? How long does the bottle of the Succraid last? What types of meals does your child eat, especially snacks? Does he/she have a pretty normal life? Does he/she still have diarrhea? Any websites that you can suggest? Do you know what complications can occur from this disease?

    I'm sorry for all of the questions, as I'm sure you know how frustrating and scarry it is to have a baby with this condition. Any help that you can offer will be greatly appreciated! Thank you for your help.
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