Never say never about our child

This story is virtualy identicle to ours. We have a son of 9+ yrs who has mosaic t18. He is a happy, healthy cheeky little boy. The wreckage in our lives and the lives of our other children (labelled siblings in the lingo) is indirectly a result of the professionals' attitude that there seems no apparent moral duty beyond preparing the parents (not the other children) for the inevitable early death of their child at regular intervals and sometimes in inappropriate settings.

We have fought for every shred of support from vital equipment and nutrition to regular breaks and education. We have guarded our child through every hospital admission 24/7.

I wholeheartedly agree with the author, our children have as much right to live as any child. No matter what their condition, it is the child's and our choice to fight for life. Is it the consultants' right to refuse assistance? Is it the consultants' duty to extinguish all hope? First do no harm. The infant/child is not the only factor.

Our t18 children are not so very different from those with other life limited or life threatening conditions, and we need to 100% offer life opportunity, not death inevitability.

It seems as if many clinicians interpret articles such as Ms. Pearson's as requests to give families their choice of every conceivable avenue of treatment regardless of the clinical circumstances; I agree that removing the clinical expertise from the equation would be unlikely to benefit the patient and would create an even more stressful situation for the caregivers.

That being said, I do not believe that is the message these articles are intended to convey. They are not arguing that scientific evidence on outcomes given clinical circumstances should not be vital part of responsible treatment planning, they are pointing out that the problem arises when "clinical circumstances" becomes synonymous with "diagnosis", as often seems to be the case with full trisomy 18 (T18). Ask about the prognosis for an infant diagnosed with full T18, and the responsible clinician would inform you of the mortality rates at one day, one week, one month, six months, one year, and ten years. Ask about prognosis for an infant with mosaic T18, and the responsible clinician would tell you that the prognosis depends on the clinical presentation in that patient.

Where is the evidence that says clinical presentation is less relevant to prognosis than a statistical info sheet for children diagnosed with full T18?
My daughter's case illustrates why prognosis should be determined on a per case basis even when the diagnosis is complete trisomy:

Ellie (b. June 28, 2005) was diagnosed with full trisomy 18 when she was about one week old. We were given the routine horrible prognosis along with informative literature. Ellie had several of the physical characteristics common with T18 (heart defects (VSD and PDA, both resolved without surgery), pulmonary hypertension (resolved with heart defects), very low birth weight given gestational age, small ears that were slightly low set, prominent heels, and a slightly small jaw; however, the potentially life-threatening complications associated with full T18 were conspicuously absent. Since T18 was present in all 25 blood cells they tested, improvements in Ellie's health were tempered with reminders about the statistically probable outcome we faced.

Ellie was discharged at two weeks old with grim prognosis intact but without any specific medical considerations. I spent the next four months in that hypervigilant state that immediately precedes a panic attack. At our 4 month follow-up appointment, the geneticist told us that at that point, she did not see any reason Ellie should not make it to her first birthday (much better odds than 90%-95% mortality by age 1). On the car ride home, I actually got some rest.

By the time she was two and a half, she deviated so far from the full T18 phenotype that the geneticist ordered another blood test to double check her diagnosis; again, trisomy 18 was present in all cells tested. Ellie continued to thrive, and when she was four years old, her geneticist requested to biopsy and analyze skin cells. Of the 34 skin cells analyzed, only 4 had the extra chromosome--mosaic trisomy 18.

Ellie needed intervention to get started, but she turns ten next month and is a happy, healthy child with a bright future. Many infants with full T18 receive only minimum, if any, intervention because of their diagnoses and often do not survive; if even one of them could have flourished like Ellie, how can that possibly be the best practice?

Thank you for all the thoughtful responses that have been posted to date.

The question of evidence based medicine is rightly discussed. My question is what constitutes evidence when looking at a rare condition where symptoms may vary significantly in severity? Evidence and “the literature” were both referred to in Isabel’s early days, mainly to confirm the negative prognosis. We have since learned that there is a whole range of other evidence in existence which offers some positive stories as well as the more negative ones, but none of this was apparent in our early discussions with medical staff.

When I initially wrote my article we only knew of one other trisomy family. More recently I have connected with families across the world and there is much sharing of stories. It appears to me that the survival of trisomy children is dependent not just on their individual medical difficulties, but on the combination of the mindset of the medical staff (including whether a doctor will treat a particular child for their symptoms), the ability of the parents to advocate for their child, and indeed whether the medical team have been upfront about their intentions so that parents have the opportunity to discuss and agree the best course of action for their child. I find this all more than a little disturbing; it feels that a decision framework based on actual health difficulties and symptoms rather than the label of a syndrome is overdue if we are to avoid a lottery of health care for trisomy children and their families.

Well done Alison.
Excellent piece of work clearly outling challenges we face with our children, largely based on negative and out of date medical knowledge.

As a parent to a child (she's only 8 months and only diagnosed 4mths ago), I know only too well about the issues you describe. Our Darra was found to have T18 as an 'incidental' finding whilst undergoing investigation for her vsd. All the drs were shocked with the diagnosis-which was initially sold to us as full t18! Despite the fact Darra was VERY well with no red flags and only subtle traits (which were equally described as normal baby traits), we were told 'categorically ' that she had a bleak outlook and would die before she turned 1.

We were advised we would be referred to hospices, would receive comfort care etc when the time came. We were also told that death would be the result of central apnea or respiratory disease-as said Darra was very well and there was no reason to assume she's develop any major complications.

As a nurse and mother I refused to accept the drs diagnosis and prognosis and set about having it reviewed, thankfully I knew what/how to do this, as we know drs aren't always receptive to 'being challenged!

Thankfully the new tests should the mosaiciasm and following other dr reviews the prognosis seemed less bleak.

No one knows what the future holds for anyone, regardless of underlying disease, and I'm disgusted that some clinicians continue to be so 'black&white'