Tink’s Exciting Project & a Diagnosis Disagreement

Our trips to RMCH are never without a drama of some sort.ย 

This morning, we were stuck behind an accident, over half an hour late and unable to reach anyone at inpatients to explain.

Luckily they agreed to still see us – huge relief as the wait inbetween appointments is lengthy.

Today we had to see both endocrinology to discuss Esme’s stim test results and bone scan and then to genetics for a catch up with Kay and to enrol into the 100,000 Human Genome Project.

We didn’t see Professor Clayton as expected, but a different consultant.

He dropped the bombshell that her bone scans hadn’t come back ‘normal’ as the letter implied – rather that there was a suggestion of Hypochondroplasia – a mild form of dwarfism. I couldn’t believe it.

She won’t be offered growth hormone injections as her body is producing more than enough – there’s something else at play that will explain her short stature.

Their plan was to get a definite testing done for this.


Ok, I thought. This is new. It’s not ideal but it isn’t life limiting and I’ll get my money’s worth out of her carrier till she’s well into her 40’s.

Slight disappointment that growth hormones won’t be the magic answer I thought but it’s still progression I suppose.

In between appointments we met up with my Brother who was in his first month there as a consultant in the renal unit. Neil & Dean enjoyed a coffee while I chased Esme up and down the corridor for an hour and fished crushed pom bears out of my top.


Next stop – genetics.

Kay is wonderful – she’s very thorough and she listens to all of my internet research theories with patience.

She asked how we had got on in the morning and was quite incensed to hear about the scan.

“She DOES NOT have hydrochondoplasia – children with that have short limbs and a normal torso, where as Esme is all in proportion.”

She brought up the scan results and said this had been noted due to a measurement between her vertabrae and was vague and hasty. The measurement were borderline at most and certainly not substantial enough to base a diagnosis on.

Kay says that there is a diagnosis to be had with Esme. I know she’s different. It’s just finding the right one. She seems to have a variety of characteristics that dip their toes in several possibilities but then her lack of actual health problems is both encouraging but not helpful in the diagnosis search.

Whatever she has could even be unique to her. Kay is quite certain that her growth issues are just how Esme is made rather than something terrible suppressing it.


She doesn’t think Russell Silver is a possibility either and I’m inclined to agree.

I’m just so frustated that whenever I feel like we’re making headway, it all gets thrown up in the air again but then I glanced upstairs to the children’s cancer wards and spared a thought for the families that received far worse news.

Whilst there we had our bloods taken and signed our consent forms to take part in the 100,000 Genomes Project.

The project will sequence 100,000 genomes from around 70,000 people. Participants are NHS patients with a rare disease, plus their families, and patients with cancer.

The aim is to create a new genomic medicine service for the NHS โ€“ transforming the way people are cared for. Patients may be offered a diagnosis where there wasnโ€™t one before. In time, there is the potential of new and more effective treatments.

The project will also enable new medical research. Combining genomic sequence data with medical records is a ground-breaking resource. Researchers will study how best to use genomics in healthcare and how best to interpret the data to help patients. The causes, diagnosis and treatment of disease will also be investigated.

This is currently the largest national sequencing project of its kind in the world.

We may have to wait years for our results but it is probably our best bet at identifying any anomalies and I think it’s great to be a part of such a pioneering project that may speed up the diagnosis process for similar families in future.

Esme is fast asleep in her pram back home now, exhausted after an evenful day and no matter what her future holds, we couldn’t possibly love her any more.


JD xx

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  • Avatar
    Helen Gormally
    Posted at 17:41h, 08 December Reply

    Weird. I work with that guy!

  • Avatar
    Jimmy Wallace
    Posted at 18:06h, 08 December Reply

    Shes one in a million xxx

  • Avatar
    Sarah Jordan Walker
    Posted at 19:11h, 08 December Reply

    Annoying on a lack of diagnosis but at least you’re not there for much worse news or treatment like those other poor families. And as for those darn Pom bears, they seem to have superglue properties once they’ve been squeezed in the hand of a minor ๐Ÿค”๐Ÿค” hope you’re ok hun xx

  • Avatar
    This Mum Business
    Posted at 19:24h, 08 December Reply

    Exactly! It’s puts things into perspective for sure ๐Ÿ˜€ I am thanks Sarah. She’s healthy and happy and we can’t ask for more than that xxxx

  • Avatar
    Mags Wallace
    Posted at 20:45h, 08 December Reply

    Brilliant news again Hun, just shows really how one diagnosis can turn everything upside down then to be told it’s not true ๐Ÿ˜ณ

  • Avatar
    Child Growth
    Posted at 09:39h, 09 December Reply

    so frustrating about conflicting views but #100kgenomes is a FANTASTIC project. Hope you find some answers.

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