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sucrase enzyme deficiency

Please help. My 22mo daughter was just diagnosed with an incredibly rare genetic disease. She battled diarrhea for a very long time. She had severe GERD and is on a g-tube and had a nissen fundoplicatoin. Now she has this diagnosis: sucrase enzyme deficiency. Apparently, it is so rare that only 1157 people world wide have it. Her GI doctor ordered a trial of enzyme replacement therapy called Sucraid. From my research, it seems that she needs to be on a very strict diet as well. I just don't know where to start because I'm not getting much information from her GI doctor and I was wondering if anybody knew of a doctor that I could call who may have some information about this disease and how to treat it.

22 Responses
Avatar universal

My son (11 months old) was also just diagnosed and we, too, are trying to understand it all.  He was also diagnosed with maltase deficiency (the offical name: Congenital Sucrase-Isomaltase Deficiency Disorder)Have you found out any more information?

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My son will be 3 in May. He was diagnosed around 1 year with csid. I know how frustrating it can be! I really have noone to talk to myself. You will have to monitor all of your childs diet. Although my son still has almost daily stomach aches, he has had an enormous amount of improvement since diagnosis. I joined the National Organization for Rare Disorders (NORD) and this put me in touch with another parent of a csid child. She helped. Also, there is a website called www.csid.org that has useful information. I would love to contact you both and compare our stories. This is a daily thing that we have to deal with and it can be hard when you have noone to talk to.
Angela Y.
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Please, email me! ***@****
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I don't know how we can get in touch with each other?
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I dont know how to get in touch either! Ill just post my email. ***@****. Put a subject about csid so I dont accidentally delete it! I look foward to talking to someone about this!
Avatar universal
I have a son who is 10, and was diagnosed with csid at age 14 months. He was very ill and thanks to a GREAT Gastro. Dr. he was finally diagnosed and is taking SUCRAID for the sucrose part of the disorder. If I can help at all...just ask!! I remember VERY WELL what I felt like. It's still hard to get others to understand what it's like for your child to have something so "rare!" I just posted a question, myself. I'm trying to find any parents with older kids that have CSID! NOT that easy!

Good luck.....you'll actually get used to it, and it does become a routine! REALLY!
Here if you need me!!
Avatar universal
I have a 10 year old daughter who was diagnost in march of this year.  What a relief she has been sick since birth and you would not believe what I have been asked or told!  We have restricted her diet and she is on sucraid and it is working like a charm.  I have never heard her tell me she feels good and she says it every day now that we are eating correctly and taking sucraid.  What are some of the stuff that people eat?  and what do you do for easter, Christmas and Birthdays.  I have been experimenting with crustless cheescake and its worked.

Avatar universal
I just went to csid.org and it is some chinese website... is there a different address now?
I would like to have the information that was provided from that site for research for my cookbook.
Avatar universal
I have a 16 yr. old who was DX'ed CSID. He was 5 when it was DX'ed. He was one of the first patients to receive the SUCRAID!!! It did help him!!! He was also taking Creon micro beads via G-Tube. He was Dx'ed first by Dr. Peter Durie at Children's Hospital in Canada, then, at DUKE with Dr. William Treem taking care of him!!!!
Blake is now 16, we still do teh enzymes, but he doesn't have the Sucrase part if the DX. He has the Maltase Deficiency and he also has a Trypsin/trypsinogen Deficiencuy...he can NOT diget protein.
The SCID is very hard to treat. We were actually "starving" Blake. We were told no startch, no juice. we had to make sure we read all labels. Blake wound up on TPN for 3 yrs. just to rest his pancreas and bowels.
We did also find that Blake has Swachman Diamond Bodine Syndrome...it is the sister disease to CF.
669569 tn?1225675527
Hi people,

My name is Tania.  I just wanted to introduce myself because I have found it difficult to get in touch with people with this condition.

My son Jordan (8) was diagnosed with CSID in 2003 but somehow slipped through the hospital system here in Australia until last year. I did get supposrt from Mary (thankyou) on the CSIDinfo site.  Jordan started on Sucraid nearly 12 months ago and we are still trying to work around what he can and can't have.  I'm not really sure on all the ins and outs regarding what to use with the sucraid.

Any suggestions on how people use it would be great.

Thanks Tania

Avatar universal
Hi!  ddmum here! I'd love to get back to you. I did see your invite ,on here today.Amazingly enough, I was busy this morning getting my sons new (for the month) supply of Sucraid to his school nurse. My son is the 10 yr. old that has CSID and is on Sucraid for almost 8+ yrs. in the U.S. He is now at the 1ml before & 1ml after foods with sugar. We have also found that we need to watch the intake of grams of sugar. We do "double" the dosage (with success) for very sweet items! I would say that the reg. dose covers (safely) up to about 16 grams of sucrose.(give or take a bit.....sometimes depending on the sort of food it is) Anything we are not sure of (amount of sugar..) we double dose to be safe!  (this was easier and less stressful, though, before the Sucraid changed to ONE mail-order distributor.) When we bought it locally, our pharmacy always kept extra boxes on hand (in fridge) for an emergency. It's a bit stressful with mail order!!
How is your son doing with the Sucraid? My son has always referred to it as his "drops." (sounded less "medical" in school...and to him, when he was just little) Please feel free to ask anything. If I can actually be of any help, I'd love to. It's hard to find other  Mommies/Mums, that can understand the stress of CSID! When an illness or disorder is connected to FOOD, it can be scary, at first. After all, children love to eat, eat, eat and SNACK! By the way, my son rarely drinks anything other than milk or water. He can tollerate grape juice and sometimes apple. Waters flavored with fructose are also fine, yet very hard to find, lately. The only thing is he cannot have his sucraid and then juice.
Can your son drink much else? Is his diet strict? How's the "starch" for him?
I hope to find you on here, soon. Must run for kids, now:)
Avatar universal
Would you be interested in contributing recipes to my cookbook? As you said, it is hard finding other CSID parents, and I am trying to compile a 2-week menu, plus recipes to include Sucraid (starting with recipes with 5grams sucrose, then 10 grams sucrose, etc.) as well as digestive support supplements. Have either of you tried other enzymes and supplements such as bifidophilus, or liquid cholorophyll?
Avatar universal
2 great ways to connect with other CSID moms:

1)Join Facebook, join CSID group and make friend requests for all group members

2)Become a follower for my blog at http://APlaceToStartWithoutSugarOrStarch.blogspot.com

I am putting a lot of the information for my book on this site in order to get feedback from other moms and to establish a need and following for publishers to see first hand.

Hope to see you all there soon!

Avatar universal
My daughter is 6 months old and was just diagnosed with CSID. For 2 months we got the run around from her regular pediatrician. I finally decided that her frequent watery & explosive stools just weren't right. So I scheduled an appt. with a pediatric gastro. This doctor order blood work and tested her stool and immediately we were admitted into the hospital. We just got home today after a 1 week stay. She did an upper scope/biopsy to confirm the diagnosis. We then slowly introduced RCF with dextrose for her feeds.
For a while, I thought I was just over-reacting because her doctor just kept switching her on formulas. I am so glad we caught it early rather than later. Her wieght has been affected - so far only 12 pounds at 6 months. I also expect that she will be so much more happier and have more energy than she did before.
Avatar universal
My 10 year was diagnosed with csids almost a year ago.  His gastro doctor achieved the diagnosis but dropped the ball on management or treatment of this condition. The nutritionist at Miami Childerns Hospital had never seen a patient with this condition. Neither did the surrounding hospitals.  We have been on a very strict dietary plan for him. He's lost about 12 pounds and still struggles with GI upset almost daily. Two weeks ago I went back to the internet to find SUCRAID and I'm in the process of getting the product for a trial run. Hope it works!!!!  Also got the name of Dr. William Treem at Duke. Any comments? We want to see him I guess?  Thanks for any input.  Jim
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Hi.My name is Rebecca. I am the mother of two children with CSID. I have a 13 year old daughter who was diagnosed at 5 1/2 months old and my son was diagnosed at 8 months old (although we treated him as though he had it until he had his biopsy...I already knew).  We went through numerous hospitalizations, g-tubes, central-lines, biopsies, endoscopies....until we finally got a diagnosis.  My daughter lived on the very restricted sucrose/starch free diet until her 3rd birthday when she got into the second round of the clinical trials for Sucraid.  Being able to use this medication has been wonderful and has helped "normalize" things for my children as much as possible.  I have found that as my daughter has gotten older she is able to tolerate more.  My son is still young and very small for his age and has a very low tolerance for any sugar.  They are very different.  As you get used to your child having the disorder you will discover what foods your child can eat. You'll be able to read labels faster than you ever thought possible.  Good luck.
Avatar universal
Hi..im 18 now from Ireland. Unfortunately theres only 4 cases in Ireland so the doctors here dont have a clue. Ive lived with it my whole life..only when i was about did they diagnose me with it. However theres still doubts whether anybody actually has the exact same disorder because of the endless combinations of problems and severity of the individual. As far as i know i only have the allergy to sucrose but for all i know there could be more. I havent seen a doctor about it since i was diagnosed so i dont know what to tell any of you on advise. As for this 'Sucraid'..i have never even heard of it.

Anyway..for me it does not affect my health in any other way apart from a bit of gas and diarrhoea so do not worry to much. I go to school everyday..train about 5 times a week for soccer, Gaelic football and other sports and go out to nightclubs with friends often. However i dont take alcohol at all so i dont know what way that would affect anybody..apart from in the obvious cases of sugary drinks.

However..i was subscribed to a tablet called 'CODEINE PHOSPHATE' in 15mg tablets. The directions say that it treats diarrhoea and troublesome coughs. Now my doctors only told me to take seldom..for example if i was going on a school trip and  would be away from home all day and that it was addictive so not to take very much of it. Unfortunately i dont know what else to tell you. I used to have a list of fruits and everyday foods and whether they contained sucrose or not but im not sure how accurate it was as it was put together by doctors with minimal experience from the city of Derry. I dont have any advice for people with the starch problem or of any others..i have no idea to the amount of sucrose i can take..the severity of my condition or anything else..all i have been told is that i cant take sucrose.

I have a few food recipes which my parents and i developed over the years because sugar free food here is very low..few cocoa substitutes and diabetic food is very dear.

If you have any more questions or advice for me please let me know.

Avatar universal
Hi all.
I'm new here. My baby daughter was diagnosed in august 2010 at 5 months with csid. What a relief and what a nightmare. Don't know which was worse the not knowing what was wrong or the knowing what was wrong but not being able to fix it. As a parent of a child with csid knowledge is key and it is so hard to find help and information. I would be grateful to anyone who can get in touch and help me make my little girls life better and more normal if there is such a term. My little girl was 1 on mar 9th last and what a year it's been. So so hard but so so rewarding. She was started on sucraid  in feb 2011 and we are still learning. From her biopsy results the docs feel she is mutation A does this make sense to anyone. She is extremely sensitive to starch and carbs and gets horrendous cramps and can react for up to 3 days after. Please email me if you have any information for me. I would be delighted to chat to other mothers who can relate to my situation.
Avatar universal
My name is Nikki, I have a 3 year daughter diagnosed with CSID a year ago. Very agonizing journey we've gone through. Is anyone experiencing frequent hospital visits even with the restricted diet? I've asked my daughter's GI specialist to do some study comparisons so we can avoid some of these hospital visits.
Avatar universal
Hello Nikki,
My daughter was diagnosed with CSID when she was 3 weeks old in 1997.  She is now 14 1/2 years old and is doing great.  Back in 1997 there was very little information on how to manage the deficiency and since then we have learned by trial and error on what foods work with her and what foods don't work for her.  She does use Sucraid up to 6 times a day.  She still has to watch her sugars gram intake.  Chandler carries her medication with her to school, soccer, friends houses and anywhere else she goes.  She also has learned what to order at restaurants when she doesn't want to use her medication.  If I can help let me know.
Avatar universal
I am a rertired medical technologist.  For years suffered from migraines.  Accidentally discovered sucrose caused migraines.  Being chemically educated researched and pinpointed that sucrose is disaccharide which is broken down into fructose and glucose.  For years have purchased fructose at healh food stores and supplement fructose for sucrose (table sugar) in my diet. Use just like table sugar in cooking,etc.  It is a little sweeter than sucrose. Such a relief to have some control and not to try to convince a MD that I know whereof I speak..I have been following  this regemin since 1980 which I'm sure was long before sucraid. Surely hope the food police don't continue to bad mouth high fructose corn syrup.  It is a salvation for me!  I am assuming that I lack the enzyme sucrase and can.'t break down sucrose.
Avatar universal

It looks like you may have the same problem I am having.  My son, 6 months old, was jut dianosed with sucrase deficiency but everytime I try to search for it all I come across is CSID.  Apparenly CSID is more common than just plain sucrase deficiency because there is NO nformation about it!  Have you learned anything yet about it?  I'm sorry I have no answers either but maybe we can learn together...
Good Luck,
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