Congenital Sucrase-Isomaltase Deficiency

I hope I am not violating any rules by posting this. I am only trying to contact as many parents as possible.

Due to the limited information regarding diet and nutrition for those with CSID, I have started a cookbook/resource guide project.

I have started a blog devoted to the project. Here I will post recipes for feedback, links to information about different foods, menu plans, etc.

I feel the best way to get this information to all parents, is to publish the book in print form and distribute it to doctors, nurses, and dieticians. That way they can provide the information that the parents need immediatly upon diagnoses.

If you want more information, please view my blog at http://aplacetostartwithoutsugarorstarch.blogspot.com

I hope I will be able to help you!

It's been a while since I was on the website and I'm amazed that so many other people wrote with info on CSID. My son just tured 15 months old and is doing great. I was finally able to get onto the CSID website, spoke with Mary who spent a lot of time with me and gave me a lot of information. We are also seeing a nutritionist, geneticist and Pediatric GI who have all helped. Austin has gained 8 pounds since Sept. I have not started him on the Succraid yet, based on his test results they told me he has type C so I'm following that diet and he seems to be doing well so I'm scared to change anything. He has gotten a hold of a few "forbidden" food items at his daycare by accident and even with just a bite he will experience symptoms for 3-4 weeks.

Since Austin can't eat sucrose or starch, I'm really limited with his food choices. If anyone has any ideas please pass them along, he is mainly eating the same thing day in and day out. The nutritionist said he isn't getting enough fiber in his diet but I have no idea what to give him that won't make him sick, any suggestions?

Thanks for the help. Jennifer

Jennifer-
I am not a mother of a child with this disease I am the one with this disease. I believe after living with it for 39.75 years (can't give in to turning 40 in April quite yet) I can be of some practical help to you. I lived the first 30 years with no medication. As scared as I was to start taking the sucraid it is the best thing that ever happened to me. I know it seems impossible to think that so little of a drug can make an impact. Can your son consume some starch? A lot of people can consume some starch and the sugar usually has the worse effect overall. I from time to time overdo the starch but since I never craive it I do not seem to consume to much. When I do I am just a little bit more gassy. I counteract that with Simethicone, tablets, the same thing that you can buy for infants (Simethincone Drops) They are comletely safe an inert ingredient that works immediately. It is also in some antacids and other stomach meds. I would encourage you to try the sucraid. I can understand waiting until he is a bit older. Also, for those who have had sucraid from the start I am sure it could be a real difficulty for a child to just always get it and then if there ever comes a time when you do not have it or forget it or it is just not convienent to take along. For me I do forget it from time to time. I have a really good small 6 pack cooler and I take it along with two ice packs everywhere I go. If you would like to chat with me one on one about living with this for forty years I can be reached at sewingteacher@hotmail.com

I am also a child development teacher and ran across this site while teaching my students. It was not until my 30th birthday the week of that I learned about sucraid. I do have three kids and live a relatively normal life. Nothing I eat goes in my mouth without thinking about my disease however. I had no problem with having children and I choose to have kids before I ever learned about sucraid, knowing that they may get the disease. They did not, however, I do believe they are carriers and do have some of the sypmtoms just not very bad. I just know that there are so many worse diseases and that is what gets me through everyday. I am thankful for how great I am doing. Thanks Deb

Hi there-

My name is Paras and my daughter was diagnosed when she was between 2 and 3-- it's only foggy now because she's 6 and is doing amazingly great. We live in Virginia and would like to meet other people who have experience with this condition. We use Sucraid on special occasions. Otherwise my daughter has learned to live without eating a lot of things. She just had her 6 year check up and her pediatrician says that we are doing a wonderful job because she is average for height and weight and is very outgoing and athletic. Our goal was for this diagnosis not to be a death sentence and for her to just understand that we are all different and that we all have to make adjustments sometimes. She is OK with not eating a lot of what the other kids eat and at school she gets her own treats when there is a birthday celebration. But we are lucky because her teacher doesn't allow sugary foods into the classroom, more so for being "healthy" than anything else.

It is so nice to meet others who are dealing with this. From what I understand this is very rare and there are fewer than 1200 people worldwide who have this!

Thanks for sharing. My email address is listed and I do have some tips for anyone who is interested.

Paras

We have not had a diagnosis ,however we have a biopsy on tuesday.we have never been listened to because Maura has always grown so well. I nursed her for the first year and after that all the trouble started!! I have been told it is toddlers diarrhea. I never bought that. I am hoping someone else has a child that is growing well. Her diet is soooo limited. I told the doctor it is directly related to starch and sugar. I pray we get a diagnosis. all the waking in the middle of the night is catching up with me. she is two and a half and has had stomach aches since one. Does anyone have a similar story?

just wondering if anyone can tell me how long it took from the time of the biopsy to get a diagnosis?

I think it was 7-10 days

Wow, I thought the facebook page was a godsend, but you all are posting a lot more information and I think there are many new faces here. Two boys, 8 and 10, born with CSID but not diagnosed until 4 (second son, we knew but didn't have it validated until he was 3--waited till he was old enough to do the breath test). My story is a lot like some others, put off by a doctor, told it wasn't as bad as I made it out to be, than I found a doctor who believe me, order the biopsy and we had an answer, finally. Boys have never had Sucraid, until this week, don't know if we'll be able to continue or not. They've had it since Tuesday, but both went without it today. Didn't want any different foods.

I love to hear of the older boy who is doing so well. Both of my boys are very active, playing hockey, football and baseball. Other people don't think of them as "sick" which makes it tough when they are.

Please keep telling your stories, I get so many tips just from the stories. I agree Milk, if they can tolerate it, is what has gotten my boys to the 97% in height for their ages.

I feel the world getting smaller already. Hang in there.

Hi all- My name is Brandi and I live in North Carolina. Anyone else out there from NC? My dgt, Addison was diagnosed at 20 months after 10 months of misery. She was perfectly fine from birth-10 months because I breast-fed her. Once her diet starting having more solids vs. breastmilk, the diarrhea began. I too had drs tell me I was crazy and misdiagnose her (response to antibiotics, toddlers diarrhea, irritable bowel, cystic fibrosis, celiac). She was finally scoped at UNC hospitals and diagnosed. She participated in the Baylor study in early 2006 (I think some of you did too) and then we've been on Sucraid for 3 years now. Love Sucraid, do not love the the new pharmacy so much. I was was IVPCare until Curascript took it over and the new pharmacy is not as accomodating or organized. Thank goodness we are on the patient assistance program as of last month. My husband recently changed jobs (to become a pastor) and our new insurance is horrible. Our 2-month supply co-pay was $4,500!

Anyway, I am so excited today! I saw a new pedi GI here in Charlotte who has actually seen another child (2 others!) with CSID. We have our first repeat endoscopy scheduled for April 14th and I am collecting a stool sample over the next couple of days. It was just so awesome to talk to a dr who has seen it before! I don't enjoy always being the expert in the room!

Good to hear your stories. Glad to have found this site. God bless each of us as we are figuring this out daily.

About 12 years ago, my daughter Christina was diagnosed with Congenital Sucrase-Isomaltase deficiency. When she was 9 months old, she started having chronic diarrhea, failure to thrive, etc. At the time we lived in rural England so we were forced to use the UK's National Healthcare System. We took her to doctor's there and at a miltary hospital, but no one knew what to think. During a visit home to see my parents in South Carolina, I took her into a pediatrician who then referred me to Peds GI doctor. She was just 14 months old. She did a battery of tests but could not figure it out either. We went back to England. Her British Pediatrician began speaking with the Peds GI doctor in the states. He began running tests, like a reducing substances test, but test results took at least 6 weeks to come back. In the meantime my daughter's condition continued to worsen. We kept food diarries, constently took stool samples (which were flown to various military facilities in europe) but still had no answers. After a year of frustration, being accused of child abuse and getting no where with NHS, I called the Peds GI doctor in the states again. She had just returned from a conference where she had attended a seminar about CSID and a orphan drug being tested at Duke University. My husband and I decided to bring our daughter back to the states where more tests were run. They tested for any disease that can present as chronic diarrhea and failure to thrive: Celiac disease, Cystic Fibrosis, food allergies, various blood chemistries, and another reducing substances test. Our daughter was acidotic, which means that the pH in her blood was more acidic than it should be (this could have been fatal had we waited any longer), her electrolytes were off, and her reducing substances test was positive for sucrose in her stool. The doctor then did a hydrogen breath test which confirmed the lack of enzymes to break down sugars. She then did an upper GI endoscopy, biopsying everything and then sent the biopies off for analysis. The results showed that Tina lacked sucrase, maltase, and only had low marginal levels of lactase. Our daughter was enrolled in Duke's new drug study for approval of Sucraid by the FDA.

Today, our daughter does not like to discuss her "sickness" and does not take the sucraid. The reason is not because she does not need it, but she would rather avoid foods that trigger the diarrhea or suffer its rath than to be seen as different-she is a teenager. Since she is 13 and very healthy, we try and allow her to make her own food choices. Since we know what foods trigger her "sickness", she tries to avoid them.

In our adventure and my study of CSID, my understanding is that people with this autosomal recessive genetic disorder generally lack at least 2 enzymes, sometimes more than 2. Don't be surprised or offended if a doctor asks if you and the child's parent are related--rare autosomal recessive disorders are generally only seen in people who are related. YES, we have been asked this question more than once, and NO we are not related. We are not even from the same coasts of the US.

Hind sight being what it is, my advise is to 1. Keep a food diary. After trial and error, we discovered that our child could handle up to 9 grams of sugar in a meal or snack. Any more than that, she needs to take sucraid. 2. pay attention to food labels. Many of the sugar free drink mixes, even the ones where you have to add sugar, have isomaltose and other hidden sugars. 3. Junior Mints have sacrossidase, or brewer's yeast, which is what sucraid is made of. Tina can eat a serving of Junior Mints without any problem.

Hi...we are in NC also. Our child was diagnosed July 2008 at the age of 1 1/2--after testing for so many other things here in Hickory and at Baptist. Her physician at Baptist was so excited to have a diagnosis since the condition is so rare and he calls her his special little girl. She does pretty good on the Sucraid but we still have to watch her diet so closely. She drinks no juices, just lactose, no sugar added Soy milk watered down and water with a few sprinkles of Crystal Light in it...it has been amazing at the amounts of sugars and "hidden" sugars that are in foods once you start looking at labels. It has helped to improve our dietary habits also. Even sugar-free items have sugar alcohols and sorbitol which gives her diarrhea. It is certainly a challenge as she gets older and wants to have the cookies and other snacks of all the other kids at the church nursery and babysitter. Feel free to contact me as I would love to keep in touch as your child grows as well. Wendy

Hi

I My names Kylie, I was diagnosed with Congenital Sucrase-Isomaltase Deficiency (CSID) when I was 6 months old, I'm now 27. I am looking for people to share experiences with, and find out more about this sucraid, I have only heard of its existence in the last few days. Are there any good support groups out there for people with this condition? Kylie

I am so happy that I found this site and others to talk with. I just found out after 4 1/2 years what my daughter has. It kills me to know that she has suffered all this time. If anyone has any great advice for me I would really appreciate it! My email address is
wtjohnson1@yahoo.com
Thanks,
Tracy

My son who is now 7 (Logan) was just diagnosed this last week. What I assume and looking back has been going on his whole life. Each thing seemed so isolated that nothing ever stood out. At age 5 I started to notice he was throwing up after eating, or at least started making more of a mental note about it. This tends to comes in spurts at times, and will last for awhile, then fade off, and come back. I took him to my doctor.. a great doctor, she gave us medication for Acid reflux, since that is what we first thought it was. When it still persisted we went to a specialist, I got those results back last week. His enzyme level is a 3.6, so he has just a tiny bit of enzymes, compared to the 0 level I seen some have. I am just sooooooooo happy to see this board, I been looking for answers, talking to friends that are doctors, and no one really had any answers for me. I got no answers other than the diagnoses from the doctor... no prescriptions,, no food recommendations, nothing. So I been all up in arms about this, and about to hit a meltdown. This news all came during my finals for school, and this week is my last final. Talk about bad timing. I am also concerned that my daughter (also named Quin ) should be tested. She was "colicky" as a baby, and shows some other signs, gas, diarrhea, even still now at 6. Heck I am thinking I should be tested too.
I was surprised and a little confused when the lady at the hospital where his test was done told me she sees this often. Especially seeing that it seems to be such a rare disorder, maybe she was confused. I’m still a little mad too, I felt like they handed me a bomb and walked away. It wasn’t until I started to poke questions that I started to really find out more about this. I’m just shocked at the lack of information, and referrals, and anything from his doctor. Rather I should say, I am pissed at his Doctor, who is gone until the 28th of December. It seems like a thing you don’t just send out a letter to a person and say, “here you go figure it out”. I was told my son needs to “avoid/limit” simple sugars. What kind of information is that to hand a person?

I am great for any help anyone can give me!! I don’t think I can make another trip to the grocery store without having a breakdown! I was almost in tears today as I tried to figure out about sugar substitutes for baking, and what not.
Also we live in Minnesota, so it seems a few of you are around also. I just feel sooooo bad, to my son at 7 this is like a death sentence. Plus my fiancée is of no help, and refuses to make the sacrifices for his kids to limit and avoid the sugars, making my son watch and suffer… I’m just angry and now babbling~lol.

we found out our little girl has CSID when she was 4 1/2 months old! we had to see 3 different doctors and a gi doc in 2 different states before we had her in the ER at PCMC where she spent 2 week before the GI team could find out what she had! She is now 7 months old and is doing wonderful!!! she is on RCF and is growing finally! i am so so so happy to find moms and dads out there going through what we are going through.

really need help with what i can feed her! she is wanting to eat and i just really dont know where to start. the docs she sees are 1 1/2 hours away from where we live and he doesnt know anything about this!! and the GI docs are 3 1/2 hours away from our home! i cant seem to get answers that help they just tell me to start trying thing and see how it goes but i dont want to see her in pain again! so if anyone can PLEASE help me we would really really love it!!!!!

thanks everyone for your stories they have really been a help to read your kids went thought the same thing as mine!

megan
live_laugh_love18@hotmail.com

We also see a nutritionist at the same time as our doc and if we have food questions we usually ask her. They might be able to refer you to one in the area.
Good luck and please keep us updated.
Ellen
P.S. Welcome to Share.

It's me, the original poster. My daughter, who will be four in less than two weeks, does not have CSID. I haven't been back here in about a year now. Previously, she was diagnosed with a breath hydrogen test which ended up being extremely high! so the GI doctor thought it was a definite positive. She had a biopsy done about nine months ago since we weren't really seeing too much improvement on the new diet and medication and the biopsy came out negative for CSID. Although it was really a kick in the gut (i was so excited to find out what was wrong) i am a little relieved since i was literally pulling my hair out trying to figure out what the problem was and why she continued to have diarrhea. I removed all sucrose and even starch from her diet with some improvement, but in the end, not much.

I'm sad to say that she is still on a g-tube and we are still having problems getting her to gain weight without supplemental feedings, despite the calories she takes in orally on a daily basis. On a good note, her stomach seems to be healing in that the bloating seems to be less along with the diarrhea. She does still have diarrhea, but not as often as before and it isn't landing her in the hospital with malnutrition/dehydration. So somewhere, something is going right, i just wish i knew what, but as long as she is getting better, i'm fine with not knowing for now.

In the meantime, since i'm back, I learned a lot about CSID while my daughter did carry that diagnosis. I will post an outline that I have been able to come up with sometime soon. until then, ihave school in the morning so must be getting some sleep.

good luck to all of you with your food trials. i'm so sad that your children are having to suffer with this disease.

-Sarah

My son was diagnosed with CSID when he was 9 weeks old. We were very fortunate (in a weird way) that he was so colicky because he ended up getting scoped and our wonderful peds gastro diagnosed him right off the bat. He's been on Sucraid since he started on solid foods. His sucrase level was 0. So we were pretty panicked. It was really scarey at first. I got on that csid website and talked to that woman and she scared the crap out of me! "Don't let anyone feed him sugar and if they do it's abuse!". And then she never called or got back in touch again! So much for a support group! I've never found anyone else who's ever heard of it, much less experienced it! So, I'm glad to have found you guys! Sorry it's for this reason though.

For those of you that are in the early stages - you will figure it out. It stinks but you will figure it out. My son eats pretty much regular food. I just limit how much sugar he'll get in a day. If I know he's going to have a piece of cake at a party, I'll limit any other sugar that day. Thank god for sucraid! We've been doing this for almost five years now and he's a healthy, active little boy.

Anyone is welcome to email me! Paras - I'm in Virginia too! What part??

Megan - when my son started eating, I just was really careful with reading labels. A lot of the "natural" or organic type baby foods don't have added sugars. If you're up for it, you could make your own. There are tons of sites out there that could tell you how to do it. My son could eat any of the veggies and later the meats (although they were gross and he didn't like them). I limited the fruits b/c of the natural sugars. I wasn't sure how he'd take them but he ended up doing fine with them. I do not give him fruit juice though. Empty calories and natural sugars. I just give him milk or water. Anyway, you can email me if you'd like. Good luck!

Welcome to Share, and I am so glad that your son is doing so well.

It's nice to have someone who'd been on this road a little longer to help those who are just starting their journey. Thanks!
-Jackie

Hi, my daughter is 9 and has just been diagnosed with CSID. she had chronic diarrhea since 11 months old. She had a bowel biopsy when she was 3 and it was discovered then but no one thought to follow it up and we werent told. WE were told it was toddlers diarrea and then once she grew up that it was IBS. Then we were told is was cealics disease and no finally a diagnoss. We dont really understand it that well, we are workign with a dietition and she is not on sucraid. We are following a low FODMAP diet, watching fructun and fructose and sugar intake. Its hard to change a diet thats been in place for 9 years. She has gain 1.5 kg in 4 weeks which is good. She is 136cm tall and 26kg.

My youngest son was diagnosed with CSID 2 three months ago. All his GI Dr told me was that she was going to put him on sucruid and to put him on a no sugar diet but for a 3 year old I am finding it hard to do when his older brothers have been able to eat sugar. I have been buying sugar free things but is that good cuz it has sugar alcohol in them. I have been looking for things with low sugar also. His GI DR has not got back to me at all and I can not find a nutrisanist that knows n e thig about it. Please help me with this.

I am sorry that I don't have any personal experience with this. Your GI's nurse should be able to help you find a nutritionist and set up an appt to lay out a diet that works for your son and family and give you tips. If he won't respond to your phone call just call and make an appt for a consultation so you can talk to him again and he can also check on your son at that time. It might ease your mind that you are on the right track. I know I needed a lot of confidence boosting with my daughter and I swear they always spent part of the appt just giving me a pep talk.

Good luck and Welcome to Share. We hope to see you around often.
Ellen

Hi I am so glad I found this site. My son is 8 and we had such a hard time with him as a baby. We live in a small town in Ohio and when he was born he weighed 7 1 and at three months he only weighed 7 lbs. The Dr we had kept telling us not to worry about all the loose stool and not growing. I finally got tired and fed up with her not doing anything and I took him to Children's hospital in Cincinnati and they found me a great ped. We took him to this doctor for a few years where he did start gaining weight. He was put on a special formula and told it causes diarrhea not to worry about it. Well when he was 5 and getting ready to start school I was so worried about him having trouble with other kids that I found a GI doctor who would help us. They did the biopsy and said he has sucrose intolerance but did not tell us about CSID. So I got online and started researching and found about it. He has been on the sucraid for a year now and does well. He still has issues with some items he eats such as a doughnut. He loves them and they still cause the loose stool so we try to avoid that.
My son gets so upset when he goes places and can not have what other kids have b/c he don't have his med. He wants to meet other children who have this but it is so uncommon no one knows what it is. It is funny when you go to a new doctor or to the hospital for an xray and tell them they look at you like you are making it up.
Thanks for reading sorry so long
cammie

Hello

I was wondering if there are people from Holland with CSID on this forum?

Kisses Marieke

Hi from OZ, My 17 1/2m little boy has just been diag with CSID after a very long time. Prem 33weeker IUGR 1530grams. Faliure to thrive, NG Tube for 10 mths plus a long list of trials and tribulations. Mutation D.., No sucrose, starch or carbs !!! Please HELP!!! Is there anyone out there from Aus and also what can I feed him????? Any Advice would be greatly apprecited

Many Thanks Tammy

Hi Tammy

I just received a notification about your post here. There are a few of us in Australia that either have the condition or have kids with it. You can look at my website for links

http://sugarfreediet.weebly.com

I strongly advise everyone to join the yahoo group from the links page on my site. It is a very active and informative site for CSID.

As for what you can feed him, that can be a very individual thing. Not everyone reacts the same. There is medication available if you choose to use it. I personally don't though. But then I'm in my late 20's and lived my entire life not taking anything, so is easier for me just to avoid sucrose. Hope this helps you and everyone else for that matter here.

Kylie

Hi-I'm new and so glad to see all of you and know I'm not alone! My 4 yr old was scoped in Jan but not diag. with CSID-the genetic type...so I'm guessing it is the acquired type. We have a great GI doc but after getting the results we have been left to figure this stuff out on our own. My question is what my son has is not the genetic kind...how did he just acquire it!? He has had problems with food since he started baby food and finally after 3 years got some answers. Thank the Lord for Sucraid! We still have some issues if we are not careful, but it is life changing:)

So good to know you are here:)
Christi

Hello Christi and welcome to Share! I'm so glad that you have found Share and a place to talk and get support for your sons digestive problems. I'm so glad that you finally got some answers on how to help your son, and hope you can find the answers to your other questions here.
Stacy

Hi,
This site certainly helps me feel less alone in Pittsburgh. Thank you.
My son's story is like so many others. Now three, he was nearly eight pounds at birth and grew very rapidly while I was breastfeeding. (We never used formula or a bottle as he also has hypotonia.) The first clue we had was he seemed to have severe colic -- we later learned it was severe GERD. Despite being one of the fussiest babies ever (my heart breaks to think about how much pain he was in), he was off the charts tall and in the 99th percentile for weight at six months. We had no idea the nightmare we were in for when we started solids.
Over the next nine months , we saw dieticians, doctors, and other feeding specialists who tried to figure out why a child on their prescribed high fat - high SUGAR diet was eating 1400 calories a day and losing weight. We were finally referred to a GI doc when my son dropped below the FIRST percentile for weight and they told me that if we didn't find out what was wrong, we would lose him.
The first GI doc performed an EGD , told us our son was inflamed from the midpoint of his esophagus all the way down to his duodenum. He took seven biopsies and said he’d test for everything from eosinophilic esophagitis to celic disease. At our next visit, he said the tests all came back fine and that our son need in a stomach port to gain some weight. I told him I was opposed to the procedure without knowing what was wrong first. He had no intention of continuing to test our son and said some kids just have to live like that. Obviously, we got another opinion.
The next GI doctor took a less invasive approach. She took one look at my son’s biopsy results and said she wanted to put our son on a special diet and start him on Sucraid. She said his sacrosidase levels were very low along with those that handle maltose -- I assume isomaltase. That was one year ago. Since then, my son has grown and gained and now sits at about the 25th percentile for both height and weight. Unfortunately, he still has loose, fermented bowels – even when he has a perfect diet and we have never missed a Sucraid dosage. He also complains (now that he can) about stomach pain regularly. So, he is scheduled next month for both an EGD and a colonoscopy. His GI doc wants to make sure that something else isn’t complicating his diagnosis and treatment.
Here are my questions and I hope someone out there can help.
1) Is there a test to determine whether his sacrosidase deficiency is congenital or something that he will outgrow? In other words, what is the formal test for CSID? (We may need it for insurance purposes) His doctor finally said she thought he had CSID during his last visit – something she has refused to do until now because she said that some kids do outgrow a similar condition and she doesn’t like labels (she thinks they can lead people in the medical field to stop doing their detective work and just accept earlier diagnoses).
2) Does the formal test for CSID determine which phenotype a child has or is that just based on observation?
3) What other conditions could be causing his loose stools if we are managing his CSID?
4) Does anyone have any tricks for toilet training a three-yr.-old boy who has no sensation that he is about to have a bowel movement?
Finally, as I have been baking and cooking for my son for the past year, I have come up with several recipes I’d be happy to share if there is an appropriate place to do so.
Thanks again!

Hello and welcome to Share. I am so sorry to hear of the health issues that he has been facing. I don't have any experience with this myself, but I hope that through your research and the doctors testing you are able to find what is going on with your little guy and how to best treat him. Keep us posted on his progress!
Stacy