Daisy's Story/Costello Syndrome

Many people find my blog because they have recently received a diagnosis for their child of Costello Syndrome.

It is important that you know that Daisy is at the absolute extreme end of the syndrome, there is NO other child with CS that has the complications of intestinal failure, epilepsy, neuropathic bladder etc that she has. The likelihood is that there is also some other factor/syndrome in play, we may never know. If you are personally affected and want to know more please have a look at http://costellokids.com/ and join the support group to be connected to an incredible family of parents of children all over the world who share a mutation in the hras gene.

You can also send me a message via this site if you want to know more about the syndrome.

Most of all, do not worry, you are not alone xx

Daisy is a much wanted fourth child, being from small families ourselves Andy and I always wanted four children and so we were over the moon when I found out I was pregnant in 2004.  From the outset however things did not feel the same as my other pregnancies, an early scan had given us a 1 in 4 chance of having a child with Downs and although a CVS test showed the baby did not have Downs alarm bells were ringing from very early on that something was not quite right.  By the time I was 29 weeks pregnant I had a condition called polyhydroamnios, too much amniotic fluid, I was hospitalised and given steroids to strengthen the baby’s lungs and a procedure was done to drain away some of the fluid in order to try and prevent premature labour.  Eventually after just over 3 weeks of hospitalisation and hanging on Daisy Rose made her appearance by C- section on 22^nd December 2004.

She was huge for a premmie, probably the only time in her life that she was considered too big for her age, but this was down to fluid .  Daisy was stabilised and went straight to the neonatal unit.  Our first Christmas was spent with Daisy in intensive care, me still in hospital as a result of the c-section and Andy trying to keep some sort of normality at home with three small children.

While in the neonatal unit Daisy soon started to lose weight and have huge problems feeding.  A geneticist reviewed her and she was tested for every imaginable syndrome.  All the tests came back negative, the geneticist thought she showed some of the clinical features of Costello Syndrome, a very rare genetic disorder for which at the time there was no test , we were told that it was a case of wait and see.

Daisy left neonates after 2 months, We were only home for a few weeks before Daisy was rushed back into hospital again and rapidly transferred to Great Ormond Street with a suspected malignant tumour.  Fortunately she was found not to have cancer but while she was there she became increasingly ill and was rushed to Intensive Care with respiratory collapse. 

Eventually after two long months in Great Ormond Street she was transferred back to our local hospital where she spent another two months trying to gain weight, in that time we learned that she had issues with her airway, vision problems (she is registered as partially blind), a heart condition and severe gastro intestinal problems.

Andy and I hit rock bottom, things were getting worse and worse, Daisy had a gastrostomy tube inserted in her tummy to replace the more temporary nasogastric tube.  She received continuous feeds through this via a pump over 20 hours, she vomited continuously, was permanently arched backwards in pain and discomfort and hardly slept.  We spent our days attending hospital appointments, giving her meds, clearing up sick, washing, dealing with the feed pump which either seemed to alarm or the time or leak and this was on top of the demands of looking after 3 other lively children and in Andy’s case managing a demanding career – needless to say the prospect of ever returning to work was clearly out of the window for me!

During the summer we received a letter from the geneticist saying that a test had been developed for Costello syndrome and Daisy had tested positive.  This syndrome is very rare, affecting less than 300 children worldwide.  It’s caused by a mutation on an oncogene – a cancer causing gene and there is a 1 in 30million chance of having a child with Costello syndrome, sort of like winning the euromillions lottery.  The confirmed diagnosis meant that Daisy had a 17% increased risk of developing a cancerous tumour, heart problems, feeding problems, bone problems, endocrine problems – in fact problems in just about every area – ultimately it is a life limiting condition – there are a few children who have survived to become adults but for each child the prognosis is unknown.  Having a child with Costello syndrome is like being a plate spinner in the circus, no sooner have you sorted one issue out than something else crops up for you to deal with.

However Daisy was also to prove to be a non-typical Costello Child as she developed such severe Gastro intestinal issues that she now has intestinal failure.  

Having bounced in and out of hospital with various infections during her first three years she was taken into hospital in September 2008 with a severe infection and later transferred to Great Ormond Street where endoscopies showed that she had aggressive pancolitis, inflammation of her complete gastrointestinal tract from her oesophagus to her rectum.  She immediately had a central line fitted which provides permanent access to her bloodstream and she was started on total parenteral nutrition (TPN) a complex mix of vitamins, minerals and lipids which are delivered directly into the bloodstream, circumventing the gastrointestinal system.

She spent a year in hospital from 2008 – 2009 (minus 3 weeks at home) and during that time had several very serious, life threatening infections and episodes of sepsis requiring resuscitation and treatment in intensive care.    Andy and I were trained at Great Ormond Street on how to administer Daisy’s TPN and she was eventually allowed home as a Home TPN Patient.  She now has 2 litres of TPN fluid via her drip over night for 15 hours .

 Between 2008 and 2011 Daisy would barely manage two weeks at home before being rushed back into hospital with infections requiring intravenous antibiotic or antifungal therapy.  During this time her bladder also started failing.  She has had several major surgeries including removal of her large colon and formation of stomas and now has:-

A hickman line in her chest – this is tunnelled into a major vein into her heart, we use this to connect her TPN drip on a nightly basis and to administer intravenous antibiotics and medication

A gastrostomy – this is a tube into her stomach, it is permanently connected to a bag to drain the bile which collects in her stomach

A roux-en-y jejenostomy – this is a stoma formed at the top end of the intestinal system, the jejenum, she has a tube inserted into this stoma and we use it to administer medication and a tiny amount of elemental feed (elemental feed is pre-digested feed), she receives around 70mls of feed a day via this route, mainly as it helps protect the liver which can be severely damaged by TPN

An ileostomy – this stoma was formed to defunction Daisy’s large bowel, as a result she wears a bag to collect her waste.  As her small bowel is dysfunctional her stoma output is very high and very watery.  Her large bowel was subsequently removed as it remained inflamed despite lack of use and would haemorrage blood and cause her severe pain. Last year she had the remaining 2cm of rectal stump removed as this was still bleeding and causing significant pain/

A mitrofanoff – when Daisy’s colon was removed, the urology surgeons saved her appendix and formed it into a tube, connecting it to her bladder and forming a stoma (mitrofanoff stoma)  on her abdomen wall , we are able to pass a catheter into this tube in order to empty her bladder.  The catheter stays in the stoma permanently, at night we attach a bag to drain the urine but during the day we empty the catheter regularly.

Daisy’s pain is complex, multi-factorial and difficult to manage.  She is under the Palliative Care team at Great Ormond Street and ShootingStar Chase and we administer a daily cocktail of drugs to help manage her pain and symptoms.  She also has daily intravenous antibiotics in order to keep the bugs which colonise her system at manageable levels.  Being able to administer these IVs ourselves has helped keep Daisy infection free and out of hospital for a while.

In late May 2013 Daisy had her first every epileptic seizure out of the blue, this has caused another steep learning curve for the family and knocked us for six.  Because of her intestinal failure her anti-epileptic drugs are given as intravenous infusions, these are twice Daily and add around 2 extra hours to her care regime.  We have been told that the she has multi-focal epilepsy but no-one knows why, it is one of the more difficult types of epilepsy to manage and the likelihood is that we will never fully manage her seizures.

In 2014 Daisy's mild cardiomyopathy progressed to a severe level, this has made her very tired and she has daily beta blockers to try and regulate her heart rate.

The likelihood is that Daisy either has an as yet unidentified second syndrome which has caused the intestinal/bladder failure or the impact of the gene mutation for Costello Syndrome has caused a mitochondrial disease which impacts her gastrointestinal system.  Whatever is going on, the treatment and prognosis is not going to change so we have decided that everything is now about maximising Daisy’s quality of life and her time at home with her family which are everything to her.

Daisy’s care is very complex and I have been trained in many medical procedures all with the sole aim of keep Daisy safe and keeping her at home.  Having spent so much of her life in hospital all we want is for Daisy to have fun and experience as much of a childhood as possible, we don’t know how much time we have with her but we are determined to make every minute of the time we do have count.

Our beautiful girl, Daisy Rose, passed away on 31st, January 2017.  We made every moment of her 12 years with us count.

http://www.wasthisintheplan.co.uk/2017/01/thank-you-for-days.html