Costello Syndrome Curve Ball

Daisy has Costello Syndrome -  a very rare genetic syndrome with around 250 reported cases worldwide.  It's caused by a sporadic mutation of an oncogene. An oncogene is a gene that causes cancer, children with Costello Syndrome have a 15% increased risk of developing cancerous tumours, we live with this risk every day.  This week Daisy nearly became one of the costello statistics.

We have been concerned for a long while that we might have been missing something with the pain Daisy gets from her bladder and abdomen, the protocol for children with Costello Syndrome is that they should have regular ultrasounds to check for tumours, and with any unexplained pain or lumps there should be a high index of suspicion for tumour development.  So last Tuesday I took Daisy along for her screening ultrasound to our local hospital, Theo was off school that day, recovering from one of his migraines so I brought him along too to distract her.

We call ultrasounds "jelly on the belly" and over the years Daisy has had hundreds of them and is very used to them, we go along to outpatients,  say hello to the staff and hope to see the nurse we always refer to as "JennyfromXray", we have a picture of Jennyfromxray with Daisy as she had her first ever ultrasound at only a couple of days old.




This time the scan showed something ominous, it wasn't the usual NAD - no abnormalities detected.  This time a "3cm hetergenous echogenicity" was detected in her bladder....a mass that should not be there.  And of course I had Theo with me, so tried to ask the radiographer coded questions hoping that the bright boy wouldn't click how worried we all were.

Within a couple of hours I had received a call from Great Ormond Street to bring her there on Friday for a repeat ultrasound and meeting with Daisy's Urology Surgeon.  Things were moving scarily quickly and ontop of this Andy was in Germany with work.  We had played through this scenario so many times with Daisy, our first experience of Great Ormond Street was the Oncology ward where she was admitted with a suspected tumour, but this time it just seemed too real not to be cancer.

Friday's scan confirmed that there was definitely a large mass in her bladder, the surgeon was trying to be positive but said that even if it was benign it would need to be removed and because of it's size it would have to be done as an open procedure.  Already, despite being in different countries, Andy and I were hatching our plans for how we would manage this phase of our journey with Daisy, another long hospital stay, chemo, cancelled plans, another summer apart.  The surgeon was sufficiently worried that he decided to admit Daisy that day for an emergency cystoscopy and biopsy to see exactly what we were dealing with.



Of course no family nearby and Andy in Germany meant frantic texts to friends to pick the other children up from school and guarded texts to our parents preparing them for the bad news.  But for once it was not bad news, well maybe it would have been bad news if we had not taken ourseslve to the point where we were planning how we would deal with a cancer diagnosis.  Daisy's surgeon phoned me from the theatre, clearly relieved, fortunately (I use that word lightly ) the tube which he had previously formed out of Daisy's appendix to form a channel between her bladder and her abdomen (the mitrofanoff stoma) had prolapsed in.  This had given the impression of a tumour on an ultrasound.  In any other scenario a stoma prolapse (where it collapses into the bladder) would not be a good thing, in fact prolapse of this sort of stoma is pretty rare , but in Daisy's case it was the best news and in an instant our world was changed again, contingency plans were put on hold and we could breathe easy for a moment.

Friday was a white knuckle ride for us, but it's just not unusual - our life with Daisy has been peppered by so many events like this, near misses, scary moments, poor prognosis - but each time we seem to get through to fight another day.  But it takes it toll, a few more grey hairs, a few more frown lines and you wonder how many times can we be subjected to this before our reserves run out?

We are so grateful to the wonderful NHS, when it works well it is amazing - I am able to sit here knowing my daughter does not have cancer, knowing I don't have to wait until next week for her to have a cystoscopy to alleviate our worries.  I am so grateful that Daisy is cancer free, but we still live with this threat hanging over us, like a black shadow it's there in the background.  So many of her issues over the last few years have been unique to Daisy and never seen in her syndrome before that the Costello Syndrome issues hit us like a great big wakeup call.  Over the years we have known many other children with her syndrome develop cancer and in some cases succumb to it.  So while tonight we know for know Daisy is safe, I don't think we will ever rest easy. 

My thoughts are always with our Costello family who are always there for us, I think of the children who have already left our family but whose parents still stay around to support us and I think of the Costello children who are fighting their cancer battle.

Years ago, when the Genetics team was first looking at Daisy they talked about some possible diagnoses.  They had recently discovered a gene pathway along which there were a number of syndromes of varying levels of seriousness and risk, they talked about Noonan's syndrome as being one of the more common syndromes that had lower risks and a higher life expectancy, they talked about a syndrome called CardioFacionCutaneous syndrome, then they said that at the end of the gene pathway there was this syndrome called Costello Syndrome.  We were told Daisy would be tested for conditions that lay on this gene pathway, the Doctors said that they hoped that she did  not have Costello Syndrome as this was the one with the biggest list of possible problems.  What we have learned over the years is that you cannot afford to relax with Costello Syndrome, I have no doubt we will continue to have many more white knuckle rides courtesy of this gene mutation.

5 comments:

Renata said...

As I've said already, I'm so utterly relieved that it was 'only' a prolapse. The world of good and bad can be somewhat warped when health is just lighter shades of a chronic condition huh?

What I am most heartened about reading this post is the support you get from the Costello community. Whilst the diagnosis has most definitely been a white knuckle ride as you say, if you didn't have the diagnosis the doctors wouldn't know to be on the look out for cancer and you wouldn't have other parents to support you. So even though the worry is there, it's good that you know what to worry about- if you see what I mean?

The lack of support and just not knowing what to expect or what to look out for is what I find most difficult about Dominic not having a diagnosis, which I guess is why I see the worry as horribly tough for you, but better than not knowing that you need to worry. I hope that makes sense! It's a strange blessing, but a blessing none the less (again just lighter shades of something that isn't so great, but that's the way things are around kids like ours sometimes I guess)

Much love to you and Daisy x

Twins plus Two said...

(((hugs))) Steph, how scary :( and like Renata said, weird to say it but how great that it was "just" a prolapse.... what a day though. x0x

Jacq said...

Wow! Scary stuff but I guess 'Just' a prolapse is the best news possible. Nice to hear praise for the NHS too.

Janna L. Walters said...

Stephanie,
My thoughts are with Daisy and your entire family. I love to read your reflections concerning the complexities surrounding our children's struggles caused by Costello Syndrome. Just because Micah is no longer with us we are forever effected by Costello. . .

Prayers,
Janna

Stephanie Nimmo said...

I am the foster parent to a 3 year old with Costello, we are planning to adopt her as soon as possible as well. She has already "coded" 3 times in her short life and had spent her first 18 months living in hospital with one form lung infection or another.
We are so in love with our little girl. We will do anything to help her through her life of constant challenges.
I'd love to keep in touch with you as this is the first time I've read about your family and little Daisy.
Take care.

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