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 for tomorrow - hope you get some answers.

Good luck for the results tomorrow xxx

Just seen this - will be thinking of you tomorrow. You've been so brave and done such a good job of shouting for your dd - she's very fortunate to have such a wonderful mum!

just read your thread and wanted to wish you the very best of luck for tommorrow.Keep on doing what you're doing for your dd.

Hope it went well today x

Hi well at least we didnt kept in but still none the wiser.

Some of the results arent back yet but the one where they froze the blood etc was normal so they think the problem is in the blood vessel walls. The protein c blood clotting one came back low again.

He is going to see us in 4 weeks when hopefully all results will be back. He is also going to speak to a neurologist because i am not sure if dd can feel when things are hot. Since we have had the heating on all the time for her i have found her climbing uo the radiator when it has been red hot and yesterday i was cutting veg in the kitchen and she was in her walker, i turned round and she had her hand flat on the glass oven door, she wasent even fliching and it was red hot as it had been on for an hour cooking a chicken.

He once again said they are looking for something very rare and to watch her all the time in winter, we can give her an extra drop of medicine a day if she is not coping with the cold. He said he was encouraged by the bloods as it shows she hasent had a stroke, so bit concerned about what that means. If she has any black episodes we have to let them know asap. So still waiting but she is getting the best care possible. I am just dreading the winter as when we had that cold snap last week her fingers were peeling every day :(

I've been lurking on this thread and reading the updates. I'm sorry I have nothing useful to add but I wanted to let you know that I've been thinking of you and your family. x

Thanks puddlepuss and thanks to everyone for your kind thoughts x

I have been lurking since you first posted, just wanted to send you my regards, thinking about you all and I hope you get some answers soon. X

I've been lurking too, hoping you would get some definitive answers.
So sorry you are going through this, i know how stressful having an ill DC can be :(

Hoping we don't have too cold a winter for your sakes especially.

Well the plot thickens dd's fingers keep going bright red, hot and swollen at the tips. They are that red the skin is going tight and shiny and you can actually see the light reflecting in them they are that shiny!!! Have spoke to her consultant and emailed him the pictures and they have reduced her medicine a little to see if it is a reaction to that

I'm another lurker watching out for news. I hope the change in medication makes a difference for her, at the very least maybe it shows that it's doing something helpful, but needs more careful dosing?? [hopeful emoticon]

I just wanted you to have a message this evening- we're thinking of you and your little girl, hope she's soon on the road to discovery and recovery!

Another message just to say hi, and i hope the reduction in meds helps.
Your poor DD and you going through all this.

Just searched for this thread as I really wanted to find out how your lo is doing.

Pleased to hear that your dd is getting properly investigated, hope that you get some definite answers re diagnosis soon.

just wanted to keep this active, hope the change in meds helped, and you get some answers soon

Hi everyone havent been on for a while because my maternity has ended and I am back at work :(

No change in dd really,still the same re colour changes. She is going to Newcastle hospital every 3 weeks for check ups from various consultants. We go back again on Tuesday so will update then again to let you know.

Last time we went he was arranging for her to see a neurologist as we still dont think she is feeling heat in her hands. He has also put her pictures on a forum that consultants go on in Europe and North America to see if they can shed any light, so we should find out on tuesday wether anyone has been in touchh on it. She is also having some more blood tests on tuesday and if her protein c and s still low they are going to start on daily asprin. Me and her dad also have to have some blood tests.

So all in all still no further forward but they are definitly doing all they can. We are just muddling along really, am dreading the gas bill as heating on constant and havin to but her a lot of extra warm clothes so worried about money, but isnt everyone at the minute :(

thank you for updating, I have been watching your thread with interest. I am sorry you are having such a hard time, but pleased that the doctors are being so pro-active and that you are finally getting the service you deserve from the NHS.

please do let us know how things progress because I am sure I'm not the only interested person. :)

Been back to see the consultant today and there is a consultant from Germany who believes she knows what may be wrong, she thinks its some kind of gene mutation. So we are going back in a couple of weeks to have some bloods took (me, dh and dd) and they will send them to germany!! So hopefully a diagnosis is on the horizon :)

On a darker note i mentioned that dd has an extra crease in her leg sometimes cos the health visitor picked it up at her 9 month check, he had a look and said there is a lump at the top of her thigh so she going for a scan in a couple of weeks :(

That's great news that you are getting closer to an answer for you DD. Hopefully things will be easier when you know what you are dealing with. Try not to worry too much about her leg. It might not be significant to her and if it is you will deal with it just as well as you have everything else. It sounds like she is getting great care with the hospital now as well. Good luck over the next few weeks.

Oh that's good news mummytopebs. Fingers crossed that the leg thing is nothing to worry about.s

hope you get some answers very soon xx

Hi just an update.

We went back to consultant last week and had our bloods took and they have now arrived in Germany and they are doing there tests on them. DD had her leg and hip scan and all was well so thats one less thing to worry about.

DD has now started on daily asprin as well as her nifedipine and she seems to be ok ie no tummy complaints etc.

She has had a few dark purple episodes and one black episode in the last week. Her left hand is turning purple when she eats and very scarily on monday night i switched the light on in the night (she sleeps next to me so i can check her) and her left hand and arm was almost black!!!! This went away when i woke her up and rubbed her limb.

The consultant is now discussing with another wether to get her back in and give ilorpost through a drip which opens the blood vessels further, they are holding back as they are concerned about doing more harm than good seem as they are not sure what is causing the episodes.

A diagnosis has been put as intermittent ischmea of limbs on a letter to my gp but this has not been confirmed (which i am glad about as if you google it, its full of tales of amputations!!!!)

So still waiting really, Hurry up germany

oh my geedeeawd what an awful tale. you poor poor people. you must be going absolutely spare. thoughts and best wishes for you all...

Thinking of you x

Keep on keeping on then.. Hope that you will have some more answers from Germany soon and that DD's colour changes will be manageable despite the cold weather. Thinking of you.