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Doing the test again??

(4 Posts)
Symmplythebest Thu 15-Dec-16 02:40:47

Hello - sorry for the long post!

My little girl has just come out of hospital on Sunday of this week after being there since her birth in November. She had open heart surgery at one week old to repair a very serious heart defect.

Her heart defect is associated with DiGeorge Syndrome and she was tested for this once her heart diagnosis had been made. We received the results 1-2 days later that she had tested positive.

Almost every single health professional who has come into contact with her has said that they would never in a million years have thought she had DiGeorge as she has none of the facial characteristics.

She was put onto a high dosage calcium supplement whilst still in hospital after some abnormal blood results. This is also a symptom of DiGeorge. After repeat bloods after the abnormal one her levels were far too high as they had pumped her full of it and have subsequently stopped. The doctor said that the results with the abnormal calcium levels could have been an anomaly or caused because the sample wasn't taken correctly.

We have had her T cell function tested to see whether she can have immunisations but the doctors are confident that she will be like any other child in this respect.

Her kidneys, spine and palette are all fine and she has been referred to audiology and ophthalmology to be on the safe side however doctors have no concerns on either.

I know DiGeorge can manifest itself later on through developmental issues and learning difficulties however I feel that I would like her test to be done again as from what I have noticed, the results we received were ridiculously quick compared to every other persons experience and she does not have any other symptom of the syndrome.

I know I sound like an irrational mum but after what my baby has been through already I don't want her to have endless tests which will come back as fine if she does not need to because of an incorrect diagnosis. I am so thankful that she is here with us and I love her with all of my heart regardless of diagnosis and after making my concerns known to my health visitor she agreed that my daughter should be retested.

Should I make this request and what would you do in this position???

Melawati Thu 15-Dec-16 10:57:16

How invasive is the test? If it was a simple blood test I think in your circumstances I would ask for it to be redone, particularly as you have the support of your HV in this.

Symmplythebest Thu 15-Dec-16 14:26:38

No it would be just one blood test rather than a lifetime of unnecessary testing. Think I'm going to mention it at our next appointment

youarenotkiddingme Fri 16-Dec-16 16:40:46

Everyone is entitled to a second opinion.

Do you have a GP you trust? Could you make an appointment and say what you said here - that you aren't seeking to try and prove your DD doesn't have the syndrome but that there are anomalies in the tests that indicate the treatment given is incorrect.

I'm really pleased the surgery went well and you have your DD home for her first Christmas.

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