CSID (Congenital Sucrase - Isomaltase Deficiency)... the battle to diagnose a rare disease.

The story of Sarah

This is Millie, this is our story.

This little girl is 3 and has been very poorly since she was born. She has just been diagnosed with a rare disease called CSID (Congenital sucrase-isomaltase deficiency), after a long 3 year battle against the doctors.

Apparently doctors are taught that ‘when hearing hooves, look for horses, not zebras’, i.e. if you think it’s a rare disease, it probably isn’t, so look for a more obvious diagnosis.

However this is Millie, this is our zebra.

She would scream, in agony, for hours and hours as a baby, writhing in pain with her little face contorted. We took her to A&E a few times, not knowing how to relieve her pain.‘That’s what babies do, they cry’ said one consultant and sent us home.

We knew something most definitely wasn’t right. She was our 4th child.

The others had been ok.

This little one was different.

She vomited profusely, all the time. Her little bottom would be covered in sore red open blisters and welts and we would have to strip her down several times a day because the vomit and diarrhoea would go everywhere.

As she got older she struggled to eat anything, weaning was disastrous. As a toddler she didn’t do much toddling. All she could manage was to lie on the sofa, exhausted. Day after day. Clinging, sobbing, grumpy. Her tummy was always terribly bloated like a balloon. Her first word was ‘ow’.

She spent a year eating just five foods…on this diet her symptoms subsided a bit. ‘Let’s leave it for a year until she can tell us how she feels herself’ said another consultant.

We couldn’t give her any medecine as Calpol and Nurofen produced torrents of vomit. The only way to ease her pain was to gently rub her tummy and hold and rock her gently for hours. When she could string a few words together it was ‘mummy I’m so tired’ from the first moment she woke up.

Millie is not a number, she is a very poorly 3 year old girl. Written off as having IBS because no-one wanted to listen to her parents. We went through numerous diagnoses…Reflux. Silent Reflux, CMPA (Cow’s Milk Protein Allergy) F-PIES (with a ?), gut motility, SIBO (Small Intestine Bacterial Overgrowth) , then ‘IBS’ (Irritable Bowel Syndrome) and then ‘there is nothing wrong with your daughter’,

None of this resonated. We knew otherwise.

When she vomited profusely over and over again after taking a tiny sucrose pill on the third day of some homeopathic treatment we decided to try in desperation, we looked into sucrose intolerance.

It was a light bulb moment for us. We knew instantly that Millie had CSID or Congenital Sucrase – Isomaltase Deficiency. It was like finding the missing part of the jigsaw puzzle. The more we read, researched from a diverse range of medical journals, reports, websites, the more we realised that this not only clearly accounted for Millie’s problems but also for mine (mum’s) – I too have always struggled with sugary and starchy foods, and her older sister was now coming home from school with diarrhoea after eating pasta more than one day on the trot.

This is Millie. On the day of her second Gastroscopy because the first one was bungled. Only 2 enzymes were tested instead of 4 which meant we would only ever have had half a diagnosis for CSID.

We fought and fought for the second Gastroscopy because we knew she was poorly and did not just have ‘IBS’. We wasted a whole year between the first and second Gastroscopy and watched our daughter’s health deteriorate, she struggled with constant exhaustion, she struggled to put any weight on, she had terrible diarrhoea, day after day, a raw blistered bottom which made her scream ‘no mummy, no mummy’ every time I tried to just change her nappy, a huge bloated tummy and her confidence in life took a nosedive.

A whole year of unnecessary pain and stress watching our child suffer. In desperation we decided to put her on a Keto diet and remove sugar and starch from her diet. The change in this little girl was extraordinary. For the first time she started to blossom and we saw glimpses of the little girl she could be under all the pain and misery she had endured.

This is one of the bravest little girls we know. She falls over with blood seeping from her knee and she doesn’t cry, she gets up and carries on. Only a child that feels constant pain would do this.

After a ten day trial of Invertase which we fought for and paid for, we suddenly saw a little girl with energy and a vigour for life which we had not seen before. Then the last drops of Invertase ran out and we were back to square one.

This is Millie.

After 3.5 long years of discomfort, pain, fatigue, hospital visits, blood tests, prodded and probed by 7 different consultants in 4 different hospitals, 3 dieticians, 2 nutritionists, 6 different incorrect diagnoses, 2 gastroscopies (one bungled), she has just been diagnosed with Sucrase-Isomaltase deficiency and anaemia after her second Gastroscopy at Sheffield Childrens Hospital.

We are hopeful that life can properly start now for Millie and that we can now start to enjoy our little girl and rebuild her confidence.

We are relieved that we have finally reached a diagnosis, sad that the system has let us down, exhausted that we have had to battle so hard to get to where we are today. Grieving for the normal life that we know she can’t have.

Thank you for reading this. We hope that the learning from this painful and stressful journey will be to listen to the parents. There is nothing stronger than a mum’s gut instinct.

And this is Millie, she is not a number, she is a little person that has had a big battle for the first three years of her life. The last two years of her suffering were unnecessary if a correct path to diagnosis had been followed.

If our story saves even just one family from having to endure what we have done, it will have been worth it.