Sarah’s Story

I’m Sarah, I’m a mum to two little girls, Mia (eight years old) and Millie (five years old). We live in Churt, Surrey. It sometimes feels like we live on a farm, but actually having lots of pets instead. It has been a very welcome distraction in days when it was difficult for us to go anywhere as Millie was too poorly. It meant we had something to focus on in our lives and plenty to do at home. We are lucky that we live in the countryside and we have a large garden!

Also pets just ‘know’ when someone is feeling poorly and they have been a great source of comfort to us. I sometimes hear my children talking to them and sharing their innermost feelings. It is very soothing when a warm furry cat jumps on your bed and snuggles up to you – it’s like having an instant hot water bottle that soothes a bad tummy. 

As a family we enjoy walking, and now that Millie is so much better we enjoy cycling together and have even managed a few days of skiing, but we have to do it differently to most people. Both girls are very sporty and we can now see how much Millie enjoys running around, and participating – she never had the confidence, or the energy to do this before.

CSID DIAGNOSIS

When Mia was born, we thought something was slightly amiss as she used to scream in pain a lot and really struggled to settle to sleep. She would wake every 30 minutes through the night and some nights she would scream literally for hours. It did improve as she got older and we didn’t think much more about it. When Millie was born we knew something definitely was wrong, and we really couldn’t ignore it. She would scream and scream, she would writhe in pain, she would vomit profusely and her diarrhoea was constant. When coming into contact with her skin, even for a few moments, huge welts would appear, which made her angry with us and very difficult to change her nappy. It was very difficult for us to go anywhere since as soon as we cleaned her up and changed her, it would happen again. She always had a huge bloated tummy, and constant tummy ache. She was very pale, and as a toddler she didn’t want to walk anywhere, complaining of ‘lachey eggs’ (achy legs – it made us laugh at the time!), and she always told us how tired she was from the moment she woke up. The first word she ever uttered was ‘ow’.

It took three and a half years to diagnose Millie, she was prodded and probed in four different hospitals by seven different consultants, three dieticians, two nutritionists, two gastroscopies and six misdiagnoses before she was diagnosed with CSID (Congenital Sucrase-Isomaltase Deficiency). It was me that eventually suggested this diagnosis because I noticed she vomited profusely after taking a tiny homeopathic pill, which we tried in desperation – it was a sucrose pill that carried the treatment. When I suggested CSID, I was told that was not a possible diagnosis as it was so rare.  Her small bowel biopsy confirmed that her Sucrase, Maltase, and Lactase levels were too low and that indeed she had CSID with anaemia. For Millie this meant that eating about 95% of foods was a big problem for her.

kat asleep with teddy

In our quest to reach a diagnosis for Millie, we met with many consultants who just had no idea how to move forward with Millie, and even one who suggested that her illness was ‘all in my head’. No one asked about our family’s medical history and very few of them really properly listened to us. It was a very long and incredibly frustrating three and a half years. What I valued most in my training to become a Functional Medicine Practitioner was to learn to treat the patient rather than the symptoms, to really delve deeply into the history to try to uncover clues. I can honestly say that this was never properly done whilst Millie was being diagnosed.  

CHALLENGES AND POSITIVES

Whilst I love cooking, putting my children on such a restricted diet was a real challenge. It was a huge challenge to remove all dairy, sucrose and starch from our diets.  Nothing that is in a packet can be bought without examining it scrupulously. It felt that only really left meat and fish as a viable option. It took about 18 months to get the hang of suitable alternatives, work out new recipes for simple everyday items like bread and treats.

Eventually, after what felt like a huge fight, we were able to get Millie on an enzyme replacement therapy that puts into her tummy the sucrose enzyme she lacks. This was a huge win for us and opened up more food options – even natural things like broccoli and green beans contain natural sugars that her little body was unable to cope with. She still can’t manage to eat a lot of sugar and we tend to avoid anything with added sugars, with the exception of a very occasional treat!

The other challenge is that the enzyme replacement treatment has to be stored between exactly two and eight degrees so we have had to invest in small portable fridges and special medical cold packs to enable us to be able to go out for the day. A day out used to feel like a military operation, as unlike other families, we couldn’t just stop somewhere and grab a packet of crisps or a sandwich to fill up a small hungry tummy. We bought a special portable oven, so we could pull over and cook some steak or sausages and some green vegetables for lunch. Things have got a little easier now Millie can talk and tell us how she feels.

Now that Millie is five and Mia is eight, and we are used to making bread, cooking from scratch always, baking our owns special treats, chocolates and cakes, we hope that teaching the girls the value of home baking, good whole food and organic vegetables, will enable them to grow up with traditional values around food and be able to develop their own independence and confidence.

Given the fact that I spent five years pouring over every medical paper I could find on the internet on metabolic conditions, CSID, and all the other ailments Millie was misdiagnosed with – CMPA (Cow’s Milk Protein Allergy), FPIES (Food PProtein-Induced Enterocolitis Syndrome), reflux, silent reflux, SIBO (Small Intestinal Bacterial Overgrowth ), dysmotility, etc… I have now decided to use all this information constructively and have been retraining in functional medicine and nutrition. I am now in a position where I am helping other families and individuals around the world with their own medical challenges.

SUPPORT AND RARE DISEASE DAY

We were helped by Metabolic Support UK in the early days when we were seeking a diagnosis, and we are active members on three Facebook CSID support groups, which have been fantastic and life changing.

For us Rare Disease Day is a moment of reflection, to remember the battles we had, to feel grateful for where we are now, and to help other families who are on the same journey that we went through – that feeling of helplessness, loss and confusion. We can now celebrate our little family’s uniqueness.  

TO SHARE YOUR EXPERIENCES OF LIVING WITH A RARE CONDITION PLEASE EMAIL [email protected].

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