I am really worried about my baby - any ideas please

[mummytopebs]

I have posted before re my dd who is now 4 months. Since she was born her left hand has always went a blueish colour, when she was 6 weeks old her left hand and arm up to her elbow went black, she was admitted to hospital and had a heart scan which showed up no abnormality so was put down to immaturity in system.

The discolouring seemed to calm down a bit for around 6 weeks, but the last week it has been terrible again. It is no longer just her hand her left foot changes colour and more worryingly on saturday her whole body was kind of a grey colour. The last 3 mornings when she has got up her feet have been white, you press her foot and it doesnt change colour because it is that white. Today her left hand and arm has been blue all day and her hands have been freezing, she has now pinked up again.

I took her to the gp last week who said it cant be immaturity now so has referred her to a bigger hospital, it was our small hospital that discharged her saying it was an immature system, my gp has said that there is no way the blackness could be an immature system.

I have photos on my phone showing all these colour changes and the gp said they were horrifying. So we have an appt in 3 weeks at the bigger hospital but i am concerned as her arm and hand was the blue colour for around 4 hours today, with hindsight i should have taken her to a and e but would have had to take her to our small hospital who discharged her in the first place. I am now sat looking through the pictures and i am reaaly confused what this could be or where do i go from here

best wishes and hope all's well in the colder weather

Received a letter from the consultant today saying the german consultant is looking into chilblain lupus, so at least I know they are still on the case. Have had a little look at that on net and it doesnt sound as serious as ischeamic limbs, which has what has been mentioned before so fingers crossed.

However although dd blisters in the cold she doesnt get sores, so I am not sure on the lupus thing. I just want to know now :(

keeping updated with your news, hope you get answers soon.

Ta for the updates - often think about your daughter and you.
At least things keep moving along. They'll strike the cause soon. Hope you ok with the stress of being back at work and juggling consultants. It's hard going. But I have to say you seem to keep a positive attitude.

Best Wishes,
hope you all have a wonderful christmas.
xx

I hope they are able to confirm one way or the other very soon x

best wishesx

Hi Mumtopebs. The intermittant ischaemia to limbs is not a diagnosis, but just a description of what happens ie bloods supply to limbs shuts down now and again! Its the cause they need to get to - poor pebs is a medical mystery at the moment! What I am posting about, and apologies if already mentioned but I cant read through all 9 pages, but does pebs get DLA? She would qualify I think, you dont need a diagnosis to receive it just all the medical notes etc. It would certainly help with your heating bills. ??

Hi sneezecakes yes we have just been awarded dla, we had to appeal but her consultant wrote another letter and it was awarded.

To keep everyone updated heard from Germany yesterday and the familial chilblain lupus test came back negative, however the german consultant said looking at the pics etc she was very surprised by this so she wants some more bloods sent to do further testing. We go back to Newcastle in 2 weeks to discuss further tests they may want to do.

She is still changing colour predominitly on the left hand side and keeps having days when she topples over to the left, but she is still her usual cheery happiest baby in the world self. I think she is just destined to be a medical mystery unfortunatly.

thinking of you ;-)

Just read this for the first time. How scary this must be for you . Hope you get it sorted soon.

Had a look at the photos and your dd looks like a very cute and happy chappy!

mummy - have been following this thread and thinking about you and DD. She is beautiful! How did the last meeting go?

Hi everyone been to see the consultant today but unfortunatly he couldnt offer any further info. He wants to do some more tests but couldnt do them today as dd has a urine infection and upper respiratort tract infection.

He is going to do some immunity tests as since xmas she has had an ear infectio, a chest infection, croup, conjunctivitis and now this.

Germanys results came back negative for chilblain lupus but they want some further tests done, exome tests or something on the blood which breaks it down further as they were convinced it would come back that.

When she has recovered from this infection he is going to do more bloods, another heart scan as the majority of the colour changes are on the left, a scan of the main arterys from the heart and a kidney scan.

It will get there - as they keep on ruling out stuff, they will find what it is.

Hope her general health improves so they can get on with testing.

Ta for updates.

glad they're fully checking her heart, i remember another poster with a similar concern for their child and it WAS a heart/circulation issue, same thing with it happening when laying flat. will try to find the thread and link to it.

just read this post - will be thinking of you and your precious girl. I hope they find some concrete answers soon so you can stop worrying. I think you are incredibly brave and postive considering how hard you have had to work to get the help you need! Will be thinking of you both much love x

Thanks for the update, I hope you soon get some answers. Your little girl sounds a real little poppet.

Just read this for the first time - best of luck to you in dealing with all this, and hope the doctors come up with an answer.

Your dd sounds lovely. I so hope they find out what is wrong soon.

Good luck x

Dear me its taken me ages to find this thread. Just an update. DD has an mri angiography yesterday and they have found something!!

In simple terms one of the main blood vessels in dds heart is narrowed on the left side (which explains why the majority of colour changes are on the left). DD is going to have a ct scan with dye after easter for clarification of this and then they will decide a plan.

I am just so releaved we are finally getting somewhere

I'm so glad that you've got some real progress at last!

That is so ggod to hear! And thank you for updating. It's so nice to be able to keep up as I often think of you and your dd. Good luck and I hope you get the answers soon.x

Oh wow - such good news And I do realise it's odd to say that having found something wrong with her heart but after all the uncertainty.

You may remember from my posts at the very beginning of your troubles that dd has heart issues. Give me a shout if there's anything I can help with when you have had the CT.

It is starting to sink in now that dd has a heart problem and I am starting to worry. Saggar this is what tthe mri report says, does it mean anything to you 'Irregular descending aorta beyond the left subclavian artery origin. The left subclavian artery is not well seen'.

Also we are supposed to be going on holiday in 3 weeks how likely does this look? I remember you talking about your dd hope she is well. I dont know how this wasent picked up on echo, she had another echo on tuesday after the mri and they said it ws normal, then the next day i hear this from the mri angigraphy. Are things often missed on echo?

Oh gosh you're bound to be worried but at least they have a focus now rather than all the stabbing in the dark that's gone before. And I assume you'll be under cardiothoracic at the Freeman - they really are fantastic.

As for why it wasn't picked up on echo before - I'd say that it's probably because it's slightly further out of the boundary for a normal echo. They would have checked for coarctation of the aorta (narrowing) before because that's what was indiacted (to me anyway) in your original posts. This is a bit further on as a CoA is often before the sub-clavian. It wouldn't be a good idea for me to even guess what's going on with pebs but hopefully it's something easily managed and she's already on some of the usual cardiac meds anyway.

Are you staying in the Uk for your holiday? I'd say you need the break if you can get away.