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

Yes did say harlequin and i had googled and saw the pics and thought thats not dd so thought she must have said mannequin.

Yes showed her the pics and she like the others said they were very strange and unsure what it is. Yes i mentioned the thoraic outlet thing but she didnt think it would be that as it happens in legs as well etc.

Didnt say how long for cardiologist but she is seeing her again in 6 weeks and said she would have his results by then.

I am not in any way a medical professional, and I'm only going on personal experience in my family but this sounds like a digestion issue- when the stomach is filled blood goes to the area to digest and absorb food (I think???) and so our blood leaves the extremities. My dd often had mottled skin though not anything like as severe as your baby. With you mentioning the poo thing, and the v slow weight gain, it just makes me wonder.

My DH has reynauds and has suffered cryogenic fits where his skin went completely blue, but it doesn't seem to fit with your daughters pictures.

I hope you find an answer soon, and she is soon back to full health.

wishing you all the best.

Rang for her blood test results, not all were back yet as some take a few weeks. I rang and a nurse answered she said she would speak to consultant and ring me back, they rang back about 5 mins later and said the consultant said the results were ok and dont worry but he did need to discuss them with me at our next appointment in July!!! So now i am really confused, there must be something in them but obviusly not something urgent!!

Nothing like having a reassuring conversation with a health professional.

It's hard to know whether to say that I'm glad that things seem ok, or that I'm gutted you've still got no answers. Hope you are managing to stay positive and that DD is doing OK.

DD's colouring and swelling have been a lot better the last couple of days, i have started weaning her so dont know if this has got anything to do with it!!

Unfortunatly she has got chicken pox but seems ok with it

Poor spotty little thing - hope you both stay sane until the itching subsides.

DD has been back in hospital again. Last week we thought she had chicken pox but it was just a viral rash. From Monday she started with full blown chicken pox and her skin started to mottle on and off (previous to this she had had hardly any colour changes for 2 week). Anyway Tuesday night her feet and legs started to go purple on and off, and on wednesday her feet went black.

She got admitted and once again the consultants are baffled, they gave her an ecg which was fine so they contacted Freemans hospital at newcastle who said thy had never known anything like it and suggested that it would be more likely to be some kind of disease rather than cardiac.

She had blood took for 20 mins and they took about 14 bottles to send off to various places. The consultants are having a meeting next week to discuss there next course of action.

We have come home and are waiting for test results. I am over the moon that they seem to be taking it serious now and hope a diagnosis is near

That's good news, although I'm sorry she has been unwell again.

Fingers crossed you will have an answer very soon.

As above, sorry to hear she's been so unwell but I hope this does bring you much closer to a diagnosis and something that is not serious.

Harlequin baby is where half of a babies body changes colour for short periods of time, they have ruled that out now as both sides of her body change

Just wanted to check in and see how your little DD is doing mtp?

Glad to hear that you are hopefully getting closer to a diagnosis .

Hi she is ok thanks, her chicken pox are scabbing up nicely. Her hands have been swelling awfully this week and turning deep red but no blackness again yet. We are seeing the consultant 20th july, it just seems so long away. The doctors are having a meeting this week sometime but i am assuming they are happy with their plan as they havent been in touch.

Just looking in to see how you are getting on.

Pleased that the doctors are investigating and taking your concerns seriously.

Do let us all know how you get on.

Wondering how your dd is?

I am a lurker (mainly because I am not a doctor and have nothing useful to add) and am also wondering how your meeting with the consultant went?

Hello

I hope your DD is getting on ok. I just wanted to tell you I had something similar as a baby - seem to think it was always referred to as 'blue baby' or something but this was a very long time few years ago. It did just fizzle out when I got to about 9 months apparently and I didn't have to have any treatment It's never affected me since and I have no problems with my circulation or anything like that.

I hope it turns out to be something simple for you and her. Good luck

Just wondering how you are getting on?

Hi all just to update. I have discharged dd from the consultant at the local hospital as we had an appt and once again he was saying it might be the way i am holding her and all in all not taking me seriously - he even told me to delete my photos as he had seen them before!!!!!

Anyway we had appt on Thursday at the larger hospital who have taken a completly different view. The cardiologist has done some more tests on her heart and confirmed that this is fine. He asked me to email him all the photos which i did and he said he would get in touch with someone at another hospital in Newcastle. He seems to think it might be a very rare condition that he said is hard to explain so to simplify he said it is like reynauds but hyper reynauds where the blood vessels can completly shut down. I have received an email today to say a Professor at Newcastle rvi is going to see her and i have to take her into hospital next week for lots of blood tests.

So finally i can be a bit more optimistic in getting a diagnosis (fingers crossed). The professor seems very interested to see her. I have looked him up on the internet and he deals in immunology and diseases, so not sure what to expect in form of diagnosis, but at least its better to know

hi mummyto pebs - i've had your thread on watch cause i just felt so frustrated for you and hoped you would get some help at some point.

firstly - what a knob that first doc is! but secondly the other one sounds like a star - he sounds like he's taking you justifiedly seriously and finally getting things moving in the right direction!

will keep my fingers crossed for you and your dd! let us know how you get on!

Mummytopebs - I've been looking out for your update too (i'm on the thread further down under another name). Glad you've ditched your otherconsultant and that someone is at last taking an interest Hope she's well otherwise.

I am over the moon we are getting taken seriously now.

We have had some bloods back and she still has a high calcium level in her blood (she has had this since birth, but the rubbish doctor said it was ok), she has high calcium, high magnesium and low protein c, so they have repeated the protein one as they think she might have thrombophillia. However they have said that this doesnt usually cause black limbs so still think problem with blood vessels.

The prof from newcastle is recomending she be put on medication but is waiting for some more bloods back before making a final decision.

I will update as soon as i have more info, just a waiting game now.

Im so glad you have started to get somewhere and hope you get some answers and help soon x

Pleased that you are finally making progress towards some answers.
How is your DD doing now? Must be nearly 7 months old now...

DD is 7 months now. We have been back to the hospital today for yet more blood tests as she is showing up as having high calcium and high magnesium levels in her blood. She is also showing up as having low protein c in her blood which is apparently something to do with clotting, these unfortunatly do not have anything to do with the swelling and limb colour changes but are something different, unsure what yet.

She has been getting bloods done about every 2 weeks to keep an eye on the levels and we are going to Newcastle on the 7th sept to discuss the swelling and colour changes in limbs which they believe is somne kind of blood vessel disorder and they are talking about treating that, and also to discuss the blood irregularities.

I am feeling much better now i am been taken seriously and as soon as they give me names for her disorders i will be putting in a formal complaint to the original consultant. DD has been fine in herself and no significant colout changes, her hands have been very cold today and her fingers bright red and she has some blisters on her fingers but no blackness or purple for a couple of weeks, dont know what it will be like iver the weekend as it is supposed to get a bit cooler. The poor little thing has only had shorts on once over the summer and she turned grey, she has been wrapped up the whole summer.