Borderline reading on Heel Prick Test for Maple Syrup Urine Disease

Penny Dreadful · 07-03-2019 05:54PM #1

Hi all, my wonderful baby girl was born this day last week and the heel prick test was done on Monday before leaving the hospital.
This evening my PHN called to say that the lab called them to say that she has had a borderline level for MSUD and they need to call out tomorrow morning to take another sample for testing.
I feel like I’ve been sucker punched at this news. I am of course really worried now about it. It’s a life long condition with very serious consequences if it’s not managed properly.
The logical (and calm) part of me is saying that it’s iust a borderline reading, it doesn’t mean she has it, it’s very rare to have it especially in Ireland, she is exhibiting absolutely none of the signs and symptoms (at 7 days she would be starting to exhibit some), neither myself or my husband have anyone in either of our families that has this disease.
The not so calm and logical part of me wants to take my little girl into Temple Street right now and have them carry out the test again and stand over them until the results come in as they test the blood immediately.
Have any of you had any experience with this? Did you have a retest and end up with good news? How long did the retest take to come back to you with results? Did you have a second positive reading and how have you managed your child with MSUD and how are they doing?

2xj3hplqgsbkym · 07-03-2019 10:19PM

I am sorry to hear your child has to be retested.

Nothing anyone says can alleviate your worries.
Hopefully your child doesn’t have this rare condition, But if she does, you will get through this. It may be scary and worrying but you will get through and will be able to do what is best for her with an early diagnosis.

Waiting for results is awful, but they shouldn’t be long if you have first results already.
Best of luck.

shesty · 08-03-2019 08:47PM

Sorry to hear PennyDreadful. It must be very borderline if they are retesting. I imagine they will test and get back to you very quickly so you won't be waiting too long. I only know of one child with PKU (not quite the same) and she is doing really well - a really lovely, beaming child, doing great. Here's hoping you will get the news you want.

catrionanic · 18-03-2019 10:08AM

How did she get on, Penny Dreadful? I've been thinking about you

Milly33 · 19-03-2019 12:18PM

Was thinking of you also at the weekend I hope all is ok PennyD...

Penny Dreadful · 20-03-2019 11:30AM

Hi all, thank you for your kind thoughts and for taking the time to get in touch. I have been trying to reply but couldn’t access the site!
Thankfully our daughter is fine and the tests came back clear on Thursday evening of last week.

It was a long week of waiting and trying not to worry (too much).

shesty · 20-03-2019 01:40PM

That's great news PennyDreadful. I was wondering about it too.

margo321 · 20-03-2019 02:02PM

very glad to hear that all is well

Milly33 · 20-03-2019 08:10PM

Oh fantastic news!!! So happy for ye, ye must feel like a weight has been lifted.. delighted

Cash_Q · 20-03-2019 08:44PM

That's great news! I had been thinking of you too, you must be so relieved!

Penny Dreadful · 20-03-2019 10:58PM

It certainly was very worrying.
One of the things that was bothering me most isn’t just that the disease itself is dreadful or that she’d have had a restricted diet (and I mean very restricted) forever more it was that given how rare it is then it would have been really difficult to access services and medical staff who were used to dealing with it.
It would also have been difficult to get ourselves properly educated from good reputable or sources too.
I mentioned the scare we’d had to my sister who happens to be a paediatric nurse and outlined those concerns and she said that she has never treated a patient with it.
So relieved that my little one is okay and the usual moans of motherhood (night feeds, getting her into a semblence of a routine, etc) are all I have to concern myself about now.

Borderline reading on Heel Prick Test for Maple Syrup Urine Disease

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