Newbie to the SN boards, hoping its ok to come here......flame said you are all lovely - Finally got a DX for DD3, after 9 long years, so why do I feel so tearful and crap......surely I should feel relief

[PsychoAxeMurdererMum]

I know technically this is more a health issue with DD3, but I need to get out how I feel, and see if this is normal.

DD3 has been suspected (mainly by me) to have 'cyclical neutropenia'. I have had a HUGE struggle with her first paed, who finally brushed us off with the wonderful words "oh, DD3 is just bizarre" . (how fucking DARE she......she made me feel like shite that day).

anyhooo......stood my ground, got referred to a very nice man, who actually listened and agreed to test her.....which led in march and april to 8wks worth of twice weekly blood tests (which as you can understand, on a 9yr old was not fun even if she did have 'magic cream').

anyway, since then, even tho I have had the results on a graph showing that what I suspected is true, I have not heard anything leadin me to think all was ok.

Not So!

I finally get to see the docs.......seems that they have had info going between them, plus there were two cancelled appointments in the summer (1 by them, 1 by me as I was ill), and it has just been bad luck really that we have had to wait.

so, today we go, and I have DS2 as he is croupy, and not expecting anything, and they say......oh, yes, she does have this, you were right, she now needs referring to the 'big bods' in southampton for specialised treatment, she now needs high threshold for antibiotics (nothing new, me and her GP's already do this as we know her so well), and we will be writing to the school etc to let them know more too.

..........huge range of emotions now. part of me feels releived, I have been listened to, the doc today was lovely as she said I have a good understanding of it all, nothing changes regarding DD3, she is still the same child just one with (FINALLY) a recognised condition.............and I wanna curl up in a ball and sob!

I guess some of it is the emotions from the last 9yrs coming out......there is a reason for it all, I am not making it up, she is not bizarre, we are not a neurotic family, but but but..........

and arghhhhhh

and breathe.

is this normal tho?? surely now I should just feel 'thankgod'???

[BriocheDoree]

Hello, welcome to the SN board!
I confess I have no idea what cyclical neutropenia is but so pleased for you that you finally have a diagnosis and am at your first paed!
I think it's normal to grieve over a diagnosis, even if it only confirms what you suspect. None of us WANT to have kids who are different, or want to have concerns about their health or their social development or whatever.
I hope now that she gets the help she needs and well done for fighting so hard!

[VeniVidiVickiQV]

Sounds like a pretty normal reaction to some extreme circumstances

How did you work out it was cyclical neutropenia? I've googled - it's not a common thing is it?

[PsychoAxeMurdererMum]

it is to do with white blood cell production in simple terms.

what DD3 has is cyclical.......basically the neutrophils are the part of the white blood cells that fight infection. if they are low, then you have less chance of fighting, and if the are non-existent then you would be like one of those 'bubble babies' (ie, no immunity). DD3's, being cyclical means that hers are normal for about 3/4 weeks and then drop. When they drop, if she then comes into contact with a virus or bacteria, she is then laid open to infection.......and if she catches something it hits her harder and take twice as long to get over, and she also needs a course of antibiotics normally too.

she is lucky as hers is a milder version. the normal count is between 2.5 and 7. DD3's however always flit between 2.5 (at its highest, so she is always at the low end of 'normal' anyway) down to 1.2 at its lowest. If it drops below 1 then it is classed as severe, below 0.5, then you will need bone marrow transplant (if I have understood correctly).

I think DD3's next step is more blood tests plus maybe bonemarrow test (unsure on that until I see 'the main man'), and I also think the rest of the family will need bloods done as it can be genetically pre-disposed(sp?).

[PsychoAxeMurdererMum]

VVVQV.......actually I read about another child with it (in the daily mail of all places), and the symptoms matched DD3.

DD3 has (since she was born) had pnuemonia x 3, lots of seizures, severe reactions to tonsilitis (ie, she ended up in hospital EVERY time she had it, and it was monthly towards the run up to her having them out at age 4), lots of wee infections, strep throat lots (even now), her hands and feet peel regularly (very bizarre that one), she was also DX'd with diabetes for a month at one point as her glucose levels went nuts and she ended up in a coma, lots and lots of things too numerous to remember and list TBH.

oh, and everytime she gets cold she cannot cope and so has 'rigor' (as the docs call it). basically looks as tho she is having a febrile convulsion, altho it is not connected to anything other than she is cold!

I matched it, and have since been fighting, as, like you say, it is rare!

[VeniVidiVickiQV]

Well, you certainly seem to have got some results doing it - even if it does mean that your DD3 now has a named condition. It's hard to get used to.

I knew my DD had hearing loss. I knew it. But when she had the further testing, and they diagnosed a moderate hearing loss and said she should have hearing aids I still felt as though my stomach had dropped through the floor.

Am having similar battles at DD's school wrt to getting SENCO to just do her job.

Thankfully, DD's consultants are brilliant. It always helps.

So, will your DD be on long term antiobiotics then?

[SixSpotBonfire]

A friend of mine has a DS with nutropenia. He's five now.

What you are feeling is PERFECTLY NORMAL! I felt completely like this when DS3 was dx'd with autism and that was not a long wait at all. It's a funny thing isn't it - you really want them to be DX'd so that they can get the help they need, but on the other hand you so don't want to be proved right ie to have it confirmed that there really is a problem.

Be kind to yourself, and come and talk to us more on here whenever it helps.

[PsychoAxeMurdererMum]

not at the moment. she is doing quite well right now, but of course, october to april is the 'virus season', so that may change thigs, and she is about to hit puberty, which may also have an affect (especially as we ave already proven in her bloods that they drop in conjuction with mine and her sisters periods!).

It all seems like normal for us in a way.....I have lived with this with her for so long now, it is nothing new that is going to change, except we have a name and a reason. I just feel IYGWIM

[PsychoAxeMurdererMum]

sixspot.....thankyou.

how was your friends DS DX'd?? My paed seemed stunned when I first mentioned it to her!

[SixSpotBonfire]

He was just very very poorly all the time when he was a baby - always being rushed to hospital - like me she lives in London and he was referred to some big name consultant quite early on - but I think it was also partly down to her googling his symptoms and finding out about nutropenia.

He is loads better now than when he was a baby/toddler .

[nikos]

Welcome to the SN boards. Dx is so hard, I think it's when the heart catches up with the head and everything becomes very real.
Love the name by the way,

[PsychoAxeMurdererMum]

same as my DD, only we just were treated each time and then sent on our way (altho, having said that, she was born with chicken pox so we have always put all this down to that).

at her 3yr check our HV pointed out that she had been admitted to hospital (for treatment lasting more than 5days!), more than 30 times.

you know what, writing it down just makes me more shocked and sad that no-one listened for so long!

[PsychoAxeMurdererMum]

nikos, thanks. I am normally psychomum5, only now with a halloween costume

[SixSpotBonfire]

Psycho - I can imagine . It must have been incredibly tough for you, soldiering on alone.

[PsychoAxeMurdererMum]

I will admit to it being hell for a time.

I have to say, it is not like that now (thankgod). she does still get ill, and it is still very very horrid seeing her when she is having a seizure and then vomiting loads (altho TBF, the last time that bad was last march), but she is now old enough to tell me if she is ill and so I can get on top of it quicker IYGWIM.

[SixSpotBonfire]

I worked at the same place as my friend for quite a few years, including the times when her DS was at his worst, and I know it was very tough.

I've just re-read your OP and seen what the first paed said to you ! How horrible.

[kt14]

Welcome! Am pleased for you that you got a diagnosis, sounds like a fluke that you managed to figure it out for the professionals but thank goodness you did and I hope knowing and understanding more will help your DD..

[slightlycrumpled]

Hi Paycho and welcome to the SN board.

My DS's problems are also mainly medical although he does have major difficulties with his speech due to a type of cleft palate.

Well done on sticking with it and obtaining a diagnosis. I knew from day one something wasn't right with DS and like your DD he was constantly very, very poorly with simple childhood illnesses landing him in hospital. Thankfully we got his diagnosis nearly a year ago, (aged 4) and sooooo much has changed and improved.

He also takes antibiotics daily and the difference is amazing, he has even been well enough to have major surgery on his mouth and throat last week!

It's so upsetting when you hear exactly what the problem is but for us a diagnosis has been life changing.

[misdee]

i am at your for pushing to get a dx finally, and for the way you were treated. wasnt it your dd3 who has repeatadly caught chicken pox? i remember chatting about how dangerousit is for people with compromised immune systems.

[PsychoAxeMurdererMum]

sixspot.......she was completely out of order. she also said that she was tired of looking at all her notes by the end of our time with her. even our new paed was shocked at her attitude!

KT and slightlycrumpled, thankyou for the welcome. I am so hoping we now find somethings easier, not least the school. school has been fab, but they did comment that the LEA were getting a little bit about the high amount of absence (it dropped to 80% last year). for that reason alone, the DX is a relief

DD3 was on long-term anti-B's as a baby/child for her wee infections - Trimethoprim (sp?). tis not fun!

[PsychoAxeMurdererMum]

misdee, yes, same DD (and ). she is still at risk from chicken pox.....always will be I am assuming now that we have this DX. It kind of explains why sometimes she get it when in contact, and other times she manages to fight it (even tho she still is laid low by something).

[slightlycrumpled]

trimethoprim is what DS takes, he is much better now though. Your right it isn't much fun! Hey ho.

The thing that really bugs me when I read about these things is what happens to the children, who for whatever reason, their parents aren't as able to fight their corner. Would they have been put off by the shocking doctor you saw before. It makes me and .

For us it was the involvement this time last year of just one fabulous paed. She sent us all over for tests and as what DS has is relatively unknown, (although nearly as common as Down Syndrome)is a hero in my eyes!

[PsychoAxeMurdererMum]

slightly......I know of a fair few parents who are still under that paed (and we are still in fact with DS2....). ALL of them saya similar, and I think some have given up fighting too.

I had to fight tho. I needed to for my own peace of mind as well as for DD3's health and future. I was utterly exhausted of feeling crap about her being in and out of hospital, and the comments we would get from family and friends (They did not understand how a child could be in hospital so much and implied I was causing it in some way) Proved them wrong finally......



but also

[PsychoAxeMurdererMum]

oh, and for the liking of the docs!!!

[slightlycrumpled]

Well done you for carrying on the fight. I used to feel as though it was all my fault he was in hospital all the time. I would make a really big deal about how much fruit and veg both the boys ate, as though to prove myself.

Riduclous really.

I am so pleased that you have a diagnosis and whilst upsetting, because ultimately nobody wants their child to have anything wrong with them, at least you know.

I am in awe at fighting for nine years, we had four years and it was exhausting and frankly took over my life.

How does your DD feel about it all?

[feelingbitbetter]

Welcome,
Not surprised you are feeling a bit low - 9 long years of frustration at no-one listening to you, only to be told what you knew all along. Well done, that must have been an incredible strain.
Getting a diagnosis must be a shock to the system too, even when you know. It's official now. , there is something wrong and it has a name. I would imagine that relief, anger, anticlimax and worry all play their part, but hopefully the worst will pass soon.
How is DD, is she coping well with the diagnosis?