I thought I would start this blog by sharing our story. Asher was diagnosed with Congenital Sucrase-Isomaltase Deficiency when he was 16 months old. For us it has been an extremely long and confusing journey, but I hope by telling my story this may help benefit any other parents dealing with the same sort of thing.
Asher was born in March 2008 and I formula fed him from day 1. By the time he was 2 weeks old he was showing signs of discomfort. He was extremely gassy, but had trouble passing it. He was restless and had trouble sleeping. I took him to our GP and we started him on Lactose Free formula thinking he had issues with lactose like his father. I thought I saw improvement, but as Asher became more alert his sleeping suffered. He'd scream when it was time to go to sleep and if I could actually get him to sleep he would only stay sleeping for 20-40 minutes. My first breaking point was when I answered the door to a CYH nurse who was offering me personalised support. I answered the door in tears and Lisa (who we still see) organised a day service at CYH and put a referral in for Torrens House.
By the time Asher was about 8 weeks old we believed he was dealing with silent reflux. He showed all the classic signs of it. I saw a GP in hope of getting Asher started on prescription medications after trying over the counter medications on their own. His response to me was 'He seems fine to me'. I wanted to cry, instead I responded that he's not fine and got the prescription. Asher did not respond to this medication, nor the next we tried him on. Paul and I would try everything we could to get him to sleep, even if it was for short amounts of time. I ended up 'wearing' him in slings, which helped but I couldn't do this all day and night!
At 4 months of age we went and saw our first GI paed. Asher was diagnosed as having a milk protein intolerance and this paed prescribed us Pepti-Junior formula. This helped Asher so much and we had 2 months of a child who slept and seemed a lot happier. He could lay on his tummy/flat on his back now without being in pain, he practiced rolling over and all those things he wanted to do for so long but his tummy hurt.
We started Asher on solids just before he reached 6 months. Things started going really well, we started very slowly and took our time introducing new foods as we believed Asher was already prone to food allergies/intolerances. Our next big problem started a few months later when we tried him on soy yogurt. Asher started getting diorrhea up to 7 times a day and struggled to pass wind. He was waking frequently at night screaming and naps shortened. We took him off the soy and the symptoms went away. The same thing happened when we tried breads and cereals with gluten in them. We thought he was suffering from intolerances or allergies and fought to have him seen by allergists.
It took us months to get into a decent allergist. Our first was, what we now refer to, as a crack-pot. He tried telling us that Asher was going to develop diabetes. He couldn't explain why Asher was reacting to foods, he didn't test for food allergies, he just did a sugar test. We ended up at a paed (Asher had been suffering from a respritory infection for months on end that doctors couldn't explain). I ended up sobbing my eyes out to this doctor who, in the end, referred us to a new allergist and we had allergy testing done twice (all negative).
By this stage Asher had started getting extremely nasty nappy rashes. His bottom would get covered in burns and we would have to use burn cream on it. We removed acidy foods from his diet. Asher was waking at night again and struggling to nap. Some days he would have 'tantrums' that would last until he could push his wind out. During the night we would have to help him pass the wind any way we could. The second he passed it he'd fall back asleep on our shoulders. Our GP referred us to another GI Paed, this one was the head at the Women's and Children's Hospital. Straight away this paed referred us for a sucrose breath test. Asher reacted so strongly in the days after to the sucrose (which I believed meant it was positive).
The doctor rang me to let me know what he'd been diagnosed with. I cried for days even though I fought for months for a diagnosis. We were referred to a dietician and found out that the last child to be diagnosed with it at the hospital was diagnosed 2 years before. We got a basic diet sorted and had to start playing from there. We believe Asher is Mutation B as he reacts to both sucrose and some starches. Over 2 and a half months we reintroduced dairy products and cows milk back into his diet. We now believe he reacted to the original formulas because of the sugars in them, not because of the cows milk base.
By the time Asher was about 8 weeks old we believed he was dealing with silent reflux. He showed all the classic signs of it. I saw a GP in hope of getting Asher started on prescription medications after trying over the counter medications on their own. His response to me was 'He seems fine to me'. I wanted to cry, instead I responded that he's not fine and got the prescription. Asher did not respond to this medication, nor the next we tried him on. Paul and I would try everything we could to get him to sleep, even if it was for short amounts of time. I ended up 'wearing' him in slings, which helped but I couldn't do this all day and night!
At 4 months of age we went and saw our first GI paed. Asher was diagnosed as having a milk protein intolerance and this paed prescribed us Pepti-Junior formula. This helped Asher so much and we had 2 months of a child who slept and seemed a lot happier. He could lay on his tummy/flat on his back now without being in pain, he practiced rolling over and all those things he wanted to do for so long but his tummy hurt.
We started Asher on solids just before he reached 6 months. Things started going really well, we started very slowly and took our time introducing new foods as we believed Asher was already prone to food allergies/intolerances. Our next big problem started a few months later when we tried him on soy yogurt. Asher started getting diorrhea up to 7 times a day and struggled to pass wind. He was waking frequently at night screaming and naps shortened. We took him off the soy and the symptoms went away. The same thing happened when we tried breads and cereals with gluten in them. We thought he was suffering from intolerances or allergies and fought to have him seen by allergists.
It took us months to get into a decent allergist. Our first was, what we now refer to, as a crack-pot. He tried telling us that Asher was going to develop diabetes. He couldn't explain why Asher was reacting to foods, he didn't test for food allergies, he just did a sugar test. We ended up at a paed (Asher had been suffering from a respritory infection for months on end that doctors couldn't explain). I ended up sobbing my eyes out to this doctor who, in the end, referred us to a new allergist and we had allergy testing done twice (all negative).
By this stage Asher had started getting extremely nasty nappy rashes. His bottom would get covered in burns and we would have to use burn cream on it. We removed acidy foods from his diet. Asher was waking at night again and struggling to nap. Some days he would have 'tantrums' that would last until he could push his wind out. During the night we would have to help him pass the wind any way we could. The second he passed it he'd fall back asleep on our shoulders. Our GP referred us to another GI Paed, this one was the head at the Women's and Children's Hospital. Straight away this paed referred us for a sucrose breath test. Asher reacted so strongly in the days after to the sucrose (which I believed meant it was positive).
The doctor rang me to let me know what he'd been diagnosed with. I cried for days even though I fought for months for a diagnosis. We were referred to a dietician and found out that the last child to be diagnosed with it at the hospital was diagnosed 2 years before. We got a basic diet sorted and had to start playing from there. We believe Asher is Mutation B as he reacts to both sucrose and some starches. Over 2 and a half months we reintroduced dairy products and cows milk back into his diet. We now believe he reacted to the original formulas because of the sugars in them, not because of the cows milk base.
Asher is now an extremely happy boy. He sleeps all night, naps well and doesn't have trouble passing wind.
Asher's diet is extremely limited and I, like a lot of CSID parents, have to play the guessing game frequently. I still find it confusing and overwhelming. If I get thinking too much I sometimes get extremely upset at the idea that my son won't be able to enjoy party food like other children and will miss out at parties. We are now expecting our 2nd child and have been told she has a 25% chance of having the same thing. I hope to breastfeed her to put off introducing any types of sucrose and starch until she's 6 months old.
Asher's diet is extremely limited and I, like a lot of CSID parents, have to play the guessing game frequently. I still find it confusing and overwhelming. If I get thinking too much I sometimes get extremely upset at the idea that my son won't be able to enjoy party food like other children and will miss out at parties. We are now expecting our 2nd child and have been told she has a 25% chance of having the same thing. I hope to breastfeed her to put off introducing any types of sucrose and starch until she's 6 months old.
