coping without a diagnosis

[cagb]

FIrst time poster here after much lurking and picking up good advice.not sure if this is the right place to post - please advise!
My 3 year old DS was born with some potential problems that we have been unable to get a diagnosis for. He is fit and well and leads a completely 'normal' life ie his 'problem' does not stop him doing anything. After 3 years of appointments and test we are no nearer to finding out what has caused this, or what the prognosis is for the future. The most information we have been able to get out of all the specialists is that it is either a very serious syndrome that will progress or just 'one of those things' that happen but which will not get any worse.
i have coped with all the uncertainty well (mainly!) until the last few months. i can't seem to get the worry that it will develop into something serious out of my mind, feel v emotional alot of the time, with an underlying feeling of being scared. just wondered if anyone else has faced the same sort of issue and how did you cope?

Hi cagb. Just wanted to say hello. DS1 has a diagnosed condition (at 7 days old, now 2.4) so I am not in the same boat.

I can imagine though that the uncertainty is excruitiating. Sending love.

Is he symptomatic? In pain? Happy?

Hi Lenny. Thanks for your reply. No he is happy and well and is blissfully unaware (for the moment) that he is 'different'. And compared to so many of the problems people are dealing with here it is very minor at the moment.After quite a few possible conditions / syndromes have been rulled out as time has gone on we are left with being told it could just be a random unlucky occurence that is essentially static or it s a syndrome that could progress quickly and there is no test which will say for definite which it is. I am only being unspecific in saying the syndrome name as I dont want any info on it. I may be burying my head in the sand but a trusted geneticist suggested in the early weeks after DS was born that if we hadn't researched it maybe we shouldn't as what we would find would be sensationlalist and would only serve to scare us.
So it is me that is struggling! I don't understand why after this long it is hitting me so badly. I can go hours or even days without thinking about it then it hits me out of the blue and feels like it overwhelms me. It just feel emotional, restless and I suppose scared and am not sure how to cope with it. Maybe because we have now largely been discharged from many of the specialists (which I am pleased about as repeated trips to hospital are not good)I feel kind of lost or 'abandoned'. In reality there was nothing more most of them could bring as they just scratched their heads and said how rare it was and how little research or info there is on it, but it leaves me feeling a bit helpless.
How is your DS? How do you cope with the worry of it all?

Sorry to hear that you are in such an uncomfortable position. It's upsetting not to be able to 'make it all better' for your child. Even worse to be in a sort of limbo about it.

I suspect that you have probably been being a tower of strength for your LO, and you must remember that you, too, need looking after. I think you need to find someone in RL - a councellor of some sort, perhaps - with whom you can talk through your feelings, concerns, anger...whatever you feel is valid and is worth accepting.

Yes it does feel like being eternally in limbo. I sometimes just can't dare think too far ahead. I am rapidly coming to the conclusion you may be right - although i hate to admit it I can't seem to do this on my own. I do have a real fear that my DS will somehow pick up that I am struggling and that's the last thing I would want obviously. I don't really know how do go about it - I guess the GP would be the first stop.

Hi .. I am in the same boat. I tend not to post too much as i never know how to put what i feel into words.My little man was born just over 11 weeks ago, He is my 1st boy after 3 girls. He was born at just past 34 weeks after i went into labour.(long story). Well while in neonatal intensive care we were approached by a team of doctors,asked many questiions including "do you think your son looks odd?" Well cutting long story short he had chromosome blood tests done,first set when he was 2 weeks old, 2 nd set at 6 weeks old as told they not grown and 3rd set 2 weeks ago. To me he is gorgeous, in the wording used for his open access at the hospital he is mildly prem at 34 weeks, has a degree of mirognathia, a stridor, an exaggerated fontenelle,has chocking episodes which we think are due to his chronic reflux.

I am scared stiff as we have no results as yet and he is on medication every 6 hours for his reflux etc.We were sent on a course by the hospital, have an out reach midwife,a nursery nurse who came today to attempt baby massage, a nice consultant who tends to avoid straight answeres and a health visitor who insists on telling me my son has chronic health issues! Sorry really starting go on now,just needed to let it out.

Hi gemprincess. It's a terrible position to be in isn't it. Your comments have really brought the intial feelings of total panic back to me - feelings that have really been to 'raw' for me to acknowledge or even remember now. The more i think about it, and even posting here has made me think in a different way about it, the more i realise i have blanked the early days out. Maybe that is what is catching up with me now.
I don't really know what to say to help other than accept any help you are offered. We were really offered nothing in the way of emotional support in the early days. We were lucky in that we had a fantastic HV who is still my main source of support now, but other than that nothing. We have found that consultants who avoid giving straight answers are the norm although i cannot blame them in many ways as they do not have all the answers and a litigious society makes them afraid to voice opinions that are not born out by facts though it is often only opinions we have to go on.
Do hope you get some answers from your chromosome tests soon. Have they actually said what they suspect may be wrong or what they are testing for? Is your LO well in himself apart form the reflux?
Thinking of you - let me know any news.

no experience but just wanted to echo that it's important that you make sure that you are looked after so that you can stay strong for your son.

I hope you can both get a diagnosis soon, so that you can begin to deal with your DC's conditions. I can only imagine how horrible it must be, being in limbo like this.

My niece has a very rare congenital condition that the doctors at our local hospital had never even seen before, but it was diagnosed in-utero so DB and SIL had time to get their heads around it and research it all before she was born. She is now four and is becoming aware of the fact that she is different from her friends at school, but so far seems to be taking it in her stride.

We went through this with dd1 who is now 5 .We spent her first 13 months in 6 different hospitals on many different wards and saw possibly hundreds of doctors.She had a diagnosed condition at birth but also other problems that couldn't be accounted for.
The most frightening thing was when she got really ill and we almost lost her many times it was the lack of information and people who could relate i think.
I don't know about your particular circumstances but i'm sure you are doing all you can whilst fearing the worst.I hope some one comes along soon with some good advice,just wanted you to know you're not alone this happens more often than most people realise.
Also it doesn't always get worse .When we go for standard checks many of the nurses who cared for dd as a baby tell me they had little hope for her and although she has a few problems she is a beautiful active and intelligent child who has done better than we ever dreamed of.

DD IS 2.5 and has undiagnosed developmental delay.It seems to be static so I am now just taking each day as it comes.She is getting lots of help-SALT,physio,portage.

She seems like a happy girl despite her delays,so I am trying not to think about it too deeply,IYKWIM.at the same time she was dx with delays dp got really ill so it all happened at once.I guess thats what life has thrown at us so am trying to get on with what she can do Iykwim.

Sometimes I get down and honestly a bit envious when I see her peers,but that way madness lies..so I try to focus on the positives ie shes alive,shes happy.Was brought to tears yesterday by very lovely colleague whose child is CP talking of how much he adored his son.I guess my way of dealing with it is trying to focus on the "can dos" rather than the "can't dos".It is hard,some days though.Hugs xxx Wrinkly xxx

Hi cagb, they have not really said much in terms of a diagnosis. At first they thought he was suffering from pierre robin because of his high palate and small jaw but now he is showing other signs so they are not saying much.We had the out reach midwife visit today with more medication for his reflux as consultant has changed the amount he has. She has told us that she thinks he needs to be admitted for observation and to be put back on a sats monitor as he still experiencing de sats.. This has come at the wrong time as we are moving house this friday and i have still not started packing.. (sold our house before ds was born so stuck in contract).oh the joys. Anyway how is your ds? and how are you? I am glad you have a lovely hv, just take some time out and be kind to yourself, i know its easier said then done, take care.. x

Hi everyone. Thanks for all your messages. It really is good to know you are not the only one going through such things. Obviously some of the feelings I am having at the moment are not unusual, sometimes I have felt like I'm the only one out there! Don't know about all of you, but I have found it impossible to voice my worries to anyone apart form my DH (and even keep alot of it from him!). As you have said I just don't feel people can relate to what you are going through and also I haven't told family or friends the full story as I didn't see the point in them worrying to. Maybe this was a mistake but I don't feel I can land it on them now. They just look at my DS and say alright he has a problem with his arm but otherwise he is completely well and do not really understand that my worry is not really how he is now, because although i do get upset that he is not quite 'normal' and the problems that may bring him socially in the future, my worry is much more that things could develop and we would be without him. And it seems that no one can put an end to this worry. It is not even like doctors have said if he gets to 10 say and there is no change then he should be OK. They just don't know. the thought of this lifelong uncertainty is what i am struggling to cope with.
Squatchette - you must be so strong to cope with all the hospitals. DS has only had to have one stay in hospital for an operation and i found that so hard.
Wrinklytum - good advice about concentrate on the 'can does'. Will try that.
Gemprincess - know just what you mean about needing to let it out - think that's what I'm doing on this long ramble now!!!
One more question, particularly for lacksadaisy as you hav montioned your niece is just starting to realise she is different from her school mates - how do you explain that to them and help themm to deal with it. At the moment DS doesn't seem to realise he is any different and never asks about it, but at some point i need to talk to him about it and i don't know how to handle it - any advice?

dd has noonan syndrome which was diagnosed within first 5 mths. She is now 5.5 yrs. We did denial, fear, shock, grief. Endless specialists, interference and lots of positive support and info.
to exist without a diagnosis would be hard because once you know you can plan your expectations.
dd has big delays aged 0-3 yrs but now in school is equal or above her peers in all but physical aspects.
Can you push harder for answers? Are you scared of the truth perhaps?
Good luck- I well remember the fear and reluctance. X x x

Hello there, haven't had a chance to look at computer for a little while. Glad you had lots of lovely posters reply. Just wanted to say a couple more things.
I really relate to a kind of delayed shock re early days. I've even had unprovoked flashbacks which makes me think there is a type of post traumatic stress thing going on; just flashbacks to certain conversations with docs, or feelings when looking at newborn ds1 in the hopsital. So if that's how you're feeling it wouldn't surprise me.
We're starting to get in touch with other families of children with the same condition so that ds1 can see others with similar scars/condition etc. He's only 2.4 now but I think this will help as he grows older.
In answer to your earlier question our lo is doing really well (tantrums permitting!)
x

Hi Piffle. Many true words i think. You are right about me wanting to plan my expectations. And yes I am very scared of finding out the truth in many ways and as i have mentioned i have buried my head in the sand in terms of finding out about the syndrome it could be. But only because all the specialists have told us that having that diagnosis won't actually change anything. there is nothing we can do to prevent it happening if it is going to and knowing now will not alter how we manage the condition. There is only one test that could be done, but this only looks for a particular 'version' of the syndrome and all the specialists don't think he has that version, so a positive result would only give us bad news (ie he has that version after all) and a negative result only means he doesn't have that version, but does not rule out other types. So to me it's either bad news or still no news! The only way they say they can make a clinical diagnosis is on progress of the problem and they can't tell us when or if this will occur.
Pleased to hear your daughter is doing so well. Can I ask what help and support you have had, particularly with helping her and you to cope emotionally with it.

Good to hear from you again Lenny. I get excatly the kind of flashbacks you have mentioned. Thought I was going mad sometimes! I cna be completely engrossed in something then it hits me totally out of the blue and knocks me for six. It's like I can't talk or move until the feeling subsides. You may be right about the post traumatic stress comparision. In particular i have flashbacks to the birth (which wasn't particularly good in itslef) and the feeling of knowing something is wrong as soon as he was born and no one wanting to tell me. Also a very tactless consultant explain the potential problems in a crude and sensationalist way with only negatives and no positives.
Can I ask how you have got in touch with other families with the same problem. Just feel this is something i should look at. Pleased to hear your LO is doing well.

no help emotionally at all, leant on my husband, who acted as strength but inside he was crumbling, dark times but we pulled through
I have been diagnosed with post traumatic stress disorder as well, possibly dating back to dd's diagnosis.

So it is only because she has done so well that we coped I think.
DD is unaware she has anything specific aside from muscles that are not as strong as her peers and she also has pretty bad eyesight... small prices compared to what we were warned off in the early days.

I understand your hesitation, do you receive disability living allowance for your son?
This helps immensely as dd's condition has and will prevent me from working for many years as her general health is not as great as other kids, she gets sicker more often and for longer = emplyers nightmare I would be.

DLA or disability living allowance and carers allowance.
Having a diagnosis can make claiming more straightforward.

I guess by finding out, you would not gain anything positive, is that how you feel?

Yes - if there was a test that would give me a definite answer i would ask them to do it. But there isn't, only a test that may (and this is disputed by the medical teams involved!) tell us whether he has one version of the syndrome so if we have that done and it comes back negative it is still nowhere near an all clear as it could be a different version. The specialists are all sure it isn't the version that can be tested for anyway as he is not showing all of the indicators. So a bit of a catch 22!
I don't get DLA because basically my DS is fit and well now (which makes my worries seem insignificant compared to what many of you are going through). It is the worry that this could quickly chnage at any moment if the suspected condition progresses that I am finding so hard to cope with.
Do you get any help with your post traumatic stress and do you cope with it now? How did this make you feel. Please only answer if you feel able. I don't mean to pry but wonder if this could be part of my problem.
My husband was also my brick particularly in the early days, and like yours he wasn't coping too well on the inside. While he is still v supportive we find it harder to talk about it now as me both have v different perspectives and worries about it all now.

Sorry about the big gaps cagb... BIG tantrums about everything from kind of toast to temperature of drinking water today! I'm exhausted.
Reading your description of "can't talk or move until the feeling subsides.." sent shivers down my spine. I hate using this word, particularly as I use a wheelchair myself, but it is truely paralysing for the duration isn't it?
And the effect of the bad delivery of information, and in your case, at best sketchy, information is huge and long lasting. I'm not sure the medics really realise that, though trust me, I've told the ones we are involved with.
Contacting other families was relatively easy for us (with a diagnosis). We just typed in ds1's condition to google and found local support.
More difficult for you I would imagine. I guess you'll have a couple of choices: looking for an established group who will welcome families without diagnosis or starting your own for people with a similar situation. Perhaps you could start through the hospital - writing a letter and asking them to pass it to families they think are effected in the same way.

Hi cagb, let me tell you what has helped me over the years. After a dire diagnosis at a few months old(my ds), prediction of progressive neurological deterioration and a very restrictive life-style that will be life-long, I can tell you that everyone has a different way of coping. My dh firmly kept his head in the sand for years, medical profession was ready to give up as there was nothing to offer.
I am glad I googled, because eventually we found a dietary approach that put neuro problems in remission and even reversed most of them (this was after a decade of believing that there was no hope - complete nightmare).
There is a support group now, which allowed me to meet some other parents and everyone contributes some knowledge.
It was scary to see those further down the line, but at least I knew what potentially lay ahead and what I was desperate to avoid.
You definitely need a good pediatrician even if only as a support. In the bad old days for us, I had to have someone to talk to about it, because my dh refused to discuss the condition in any context.
The paed had more understanding and more time for us than GP would and at times he was able to see us at short notice with no GP referral. You do need that - things change as they grow. You can only go once a year, but you can also contact them at any time with any problems or developments and they should be able to get you a referral quicker that a GP.
When we first went to see ours, I looked him straight in the eye and said that I needed his help in researching various avenues because I wasn't prepared to give up (I would do the research and ask him for whatever tests I felt were worth trying). We had a few blind avenues, but our breakthrough came when he (on my request) referred us to a top UK expert across the country.
So I would say, keep yours and don't be afraid to google, yes, you might find a lot of bad news, but keep your mind open and there is a good chance that someone somewhere has been through what you are going through and will have some advice to offer. Our breakthrough came thanks to a health forum (not msn) and our specialist is internationally famous for his research - I would not have ever found him otherwise.
good luck

Thanks Lenny for the suggestion about making contact with other families via the hospital. Funnily enough it did cross my mind at the last appointment with the geneticist. She mentioned that she had seen one other boy with a problem similar to my sons and I did wonder about asking if they would pass our details on to see if they were interested in making contact, but was worried it wasn't the 'done thing'. But your suggestion has made me think it would be worth a try.
Thanks for you view on things as well nightcat. We think we have seen anyone with any knowledge of the condition, certainly regionally. However our geneticist did suggest sending some photos and details of our sons problems to one other lady who is recognised as the UK expert on this. Apparently the only person who tops her knowledge is a professor in the USA - who we are told would be happy to see us if we went there - not easy! So i think I will push for this now as at least we will then feel we have seen everyone we can. Maybe then I could 'close the door' on the problem to some degree?

In the early days I wrote to Great Ormond Street Hosp and was put in touch with another family with whom we became great friends in the pre-support group time.
I have at times wrote letters and emails to various specialists UK and abroad (if you find any scientifc papers via bmj or pubmed on your ds possible condition, there is often email or postal address published). I always received a response - sometimes a suggestion of tests (that's where our paed came in handy). We are now in touch with UK and foreign support groups and individual families and there are occasional gatherings where we occasionally meet up. Make most of technology and as they say, knowledge is power. The advantage of researching it yourself is that you can take on board whatever you feel comfotrable with (including complementary therapies) and I found over the years that there is a lot of common sense advice and experience around.

still in same position - bump!

Hi cagb.. i not been on here 4 along time and just happaened to be catching up tonight when i saw your post. How is your ds? and how r u? my ds is 26 months now and we dont have a firm diagnosis.. he had his 2nd session at a special nursery today and it did not go well I cant believe how reading the old posts brings back all the feelings you thought you had a hand on..

Sorry to hijack! Hi gemprincess, just saw your post on this thread. You were on the April O8 thread with me, Peachy, Denny and Co! Sorry to hear of your ds's health problems.