Does anyone have a dc with a rare medical/ genetic condition?

[Origamiheaven]

Hello. I am new to mumsnet and not really sure where to post this (not sure I'm in the right place) I did think about ' special needs' but it didn't feel right appropriate but I am looking for some words of wisdom. I have 2 ds and my youngest who is 10 years old has a very rare genetic condition ( 1: 100 000). It is not something that has been inherited from me or dh but a spontaneous gene mutation 'out of the blue' . He was very very ill from being born until diagnosis at age 5. His condition is now managed with daily injections of medications and his health has been good since these. He is a happy, bright and adorable little boy. The problem is me. I am struggling with the whole thing. Not so much managing my ds as he is well and happy and I am so so grateful for that and I know that some children have so much more to deal with. It's just that I think about this the whole time. When I wake up to when I go to bed. I feel that I have failed him by not 'making ' him properly and the fact that his condition is so rare I can't comprehend that it has happened. None of my friends have children with medical conditions and I think why us? I just want to think about something else instead of this ruling my head space all the time. I just feel so down about this and I really want to look at the positives and enjoy my family but I'm finding it hard. Do any other parents with dcs with medical conditions feel like this at all and how do you cope with it ?

I do. My youngest DS has a rare condition - about 1:40000, 40% mortality rate before 1 year (not thought to be genetic at present, just one of those things apparently ). He's been in and out of hospital since he was born 11 1/2 years ago but despite this he is a fairly typical, exuberant sometimes annoying lad.

I know what you mean about it being hard to comprehend sometimes, or feeling guilty. I've spent many nights thinking it was my fault. Whenever he's been unwell and he has to have anything done its like having needles put in my heart.

I find it hard because he, at first glance, appears to have nothing wrong. Also because his condition is rare, support and treatment for him is also quite haphazard and I feel so alone sometimes because it feels like no one else knows what it's like and what we go through and this in turn makes me feel so angry and frustrated.

Not a lot of help really I'm afraid, just wanted to let you know that there are other people who know what it's like.

The biggest thing I have done it to try and have a mental shift - to stop thinking of my DS as "sick" and feeling sad about his limitations and daily issues, but to view him as the rest of my children. One can't run for toffee, one has rotten handwriting - they will all still grow up and find their own paths. I needed to stop feeling sad about what had "gone wrong" and grieving for a future that might not happen - that future never existed anyway and you can't miss what you haven't got! I can't predict what will happen for any of my DSs any more than for my youngest.

I realise that last post was a bit rambling - it's hard to put it accurately into words!

I'm probably stating the obvious, OP, but are you in touch with Unique?

It is worth looking on facebook too for groups related to the same condition. DD1 has a rare genetic issue that causes her some learning issues. In some it causes medical problems too though thankfully we seem to have been spared that side of things. I have a couple of facebook groups where I can chat with other parents who have children with the same deletion and we can compare notes. The condition is a relatively newly recognised one due to advances in genetic testing, so there is still a process ongoing of gathering information and trying to define what the condition is, and what it is not. I have found the other parents helpful and we met up with another family a couple of months back and it was amazing to compare the two children together - so much in common and actually really quite reassuring in a way too once we had met them.

Hello. Thank you for your replies. My ds also looks as though there is nothing wrong so I know exactly what you mean 'probably me' I actually missed a 0 off the disease occurrence , i meant to say 1: 1 million so it is hard to find groups with the same disorder. I have looked at Unique but I think they only deal with chromosome disorders, my ds has a single gene mutation but I will have another look. Thank you again for your replies.

Definitely look again at Unique. I can't say without knowing what the specific disorder is whether they'll be able to help, but they definitely deal with very small deletions/duplications/re-arrangements (I believe "chromosome conditions" is meant to include any detected change in the DNA on any chromosome).

From the website:

"Rare chromosome disorders include extra, missing or re-arranged chromosome material but do not include the more common chromosome conditions such as Down's Syndrome. Using the latest technology, it is now possible for smaller and more complex chromosome defects to be identified. The amount of chromosome material duplicated, missing or re-arranged can vary a great deal. This means that it may be difficult to identify two people who have exactly the same chromosome disorder. The clinical problems of those affected can also vary enormously even when the chromosome diagnoses are similar."

The information officers might be able to point you in the right direction for info/support, even if there is little information on your DS's particular genetic mutation.

All the best to you and your DS.

Hi

I have 3 children with a rare medical condition and shat you say resonates with me.

The guilt and pain is horrendous and can be costuming and crippling. The isolation and loneliness is the worst as although other people have children with medical needs, nobody is in my situation.

DH shuts off and won't acknowledge the problem, so all of it down to me.

I fear so much my children becoming adults and having to deal with it all.

The problems are invisible too and don't impact too much on day to day life so apart from the bad days life goes on.

I thought it was just me! I'm so thankful I found this thread. I already feel a little more sane.

My first and only child, my baby girl is only 3 weeks old and is currently getting tested for rare genetic disorders. Since she was born with some abnormalities, (6 fingers and toes on each hand and foot, tongue tie, abnormally large anterior fontanel, but other than that appears perfectly normal at the moment), I have been going through an emotional rollercoaster of frustration, guilt, why me, this overwhelming feeling that I have failed her. I couldn't even create a "normal" baby and give her a fair chance at a "normal life".

I wont have a diagnosis for a few more weeks at least as she is still going through testing but even the testing is heartbreaking. So much blood from such a little foot and I stand there crying as she cries, but my tears are of guilt. I feel like its all my fault and now she is suffering. My partner has completely emotionally shut off from me, dove headfirst into his job and keeps dismissing it, as if he is just pretending its not happening. I think its his way of coping but I'm terrified of the diagnosis and the future ahead and all i want is to crawl into a little dark hole with a lot of alcohol and never come out again.

My family and friends have never seen anything like it or been through anything similar to this so they don't really know what to do/say. I find myself on the phone in tears to my mum daily since I found out that its most likely a genetic disorder.

My heart goes out to all you ladies that have gone through this. Words can't even express the emotions that I'm going through, and you all sound like your further along in the journey than I am. Best of luck to all of you and your beautiful children.

I think over time you will come to realise it is not your fault at all. I went through this, thinking what did I do during the pregnancy etc etc. My partner is dismissive too and that is really tough, either that or he starts crying so I have to be the strong one. This leads to me being a control freak over all the medical stuff. BUT it works!

It is tough as people get bored and don't get it. What helped me was raising money for charity and searching for others who I could talk to first online and then to meet up with. I also encourage the children to chase their dreams and I try and chase mine too. It has given me so much more confidence and I am much more bold as I have nothing to lose now my kids don't have their health.

My DC don't have a rare genetic condition. But I do - a very serious one. Mine's inherited from my parents (recessive, so they don't have it themselves). I have never for a moment thought that they are to blame or that they didn't make me properly.

Medical conditions are a part of life. Lots of people have them. As a society we still have a disastrous attitude towards disability - that perfect health is the 'norm' and disability is a deviation. It's not. It's part of the norm. It's normal to have a disability, it's normal to have a child with a disability. What shouldn't be normal is the huge barriers that we as a society put in disabled people's way - badly designed buildings, vicious or thoughtless attitudes, inaccessible public transport etc. etc. That's what's wrong.

I think that for you, and for everyone else who is suddenly brought up short by a disability that affects them or someone they love, it is a massive shock because you are - or the person you love is - suddenly part of that abnormal Other you've been seeing as 'different' all your life. It's easier to throw yourself into wanting to 'cure' them, than it is to confront the (even) bigger task of changing society step by step.

Please don't think I mean this unsympathetically, as I am very aware of how you feel and have watched my deeply caring parents feel the same way. But as I get older and my disability progresses I am more and more aware of how hurt I feel that everyone, everywhere, sees me as Other.

Well, not everybody. DH and the DC don't. The biggest gift you can give your DC is to embrace the normalness of who they are, medical condition and all. That's different from loving them, which of course you do.

My ds has a 1:5000 disease so I have been able to join a few support groups and chat to other mums thankfully.

What I really wanted to say though is that I understand your feelings and I totally blamed myself for ds illness and became very depressed. I got a referral for CBT counselling from my gp which was the best thing ever as it made me see it wasn't my fault and I processed my emotions. I'm now in an ok place, and understand it was nothing I did. I'm still on antidepressants but am in the lowest dose and hoping to come off them next year. I really think you should chat with your gp and see if you can have some counselling to talk through your emotions. Good luck op

Thank you. I really appreciate your comments and advice. It is reassuring that others feel like I do. Wolfbasher - I do not think you are being unsympathetic, not in the slightest. I need other peoples perspectives on this and the view of ' it's normal to not be normal' has helped me to maybe rethink things a bit.

Thank you OP. I think it's a really important civil rights issue, actually. Physical and mental impairments of all kinds are normal, and have always been part of human life. Disability is created by society's exclusions.

This is the 'social model' of disability, which is pretty well understood amongst disability rights movements.

I also do not have children affected (thankfully) but I have Epilepsy and did have so chronically since very young. My parents blamed themselves as it was caused by a brain abscess that grew due to having an unchecked infection somewhere in my body. They couldn't have know I was unwell, and in fact, the root of the infection has never been discovered. all the docs know is that the infection had to escape somewhere so it travelled up and culminated in my brain.
The upshot being I was incredibly ill for a long time and as a result of many surgeries was left with scar tisssue that caused the epilepsy. I had many seizures at school - wetting myself etc, not what you want to do when a senior pupil - and was put into the 'thick' class (that's what is was called) as I was a disruption to other pupils.
It appears the root of the numerous infections I have had is to do with a blood disorder which only I carried - my siblings being clear.
My parents blamed themselves entirely, as did my sisters for being normal. The way I see it is ..... I am just me. I dont have glasses like middle sis and I dont have wide feet like older sis. I just am what I am. I dont apportion blame. Just get on with it as best I can and try to educate the idiots who think epilepsy is a mental ilness/can be caught and that i can time seizures for when it is convenient for them not to have to watch.

Hello all.

My DS was born four weeks ago today. He has a respitory collapse at birth and was whisked off to SCBU where he has been since.

He does have some features which made them think he has a genetic disorder but a microarray came back as normal. He definitely has a rare condition related to his hormones probably caused by an issue with his brain but we are awaiting an MRI to confirm that side of things.

Reading this has helped me so thank you all. I determined to give my DS the best life he can have and make sure he is able to do as much "normal" stuff as possible but we do not know what the future holds.

Its hard not to feel guilty even though it is irrational.

Bb9shaz we sound in sorta similar situations I hope you get some answers soon.

I just am what I am. I dont apportion blame. Just get on with it as best I can and try to educate the idiots

Me too, Merly.

There is a lot of great advice and perspective here. It is fine to have moments of "what if.." and wonder for the future because it is human nature, but it is good to see so many people accepting different as another normal too. Another daughter of mine sadly has had much of her foot amputated, and during that process we had a huge amount of emotion involved. A friend put me in touch with another friend or hers who lost a foot as a child. She told me her parents never let her use it as an excuse to not at least try doing things in her life. At the time she did sometimes find this hard, but as an adult now she realises that without that belief from her parents she wouldn't be the person she is today. I take the same attitude with my daughters that they should try, they should believe in themselves and that everyone has potential and will achieve. We are all different, we will all be different in the long run but that doesn't make any one of us a failure.

Wow. I really didn't expect so much advice and support when I posted this as a 'newbie' the other day. I'm glad that this thread is helping others as well. Thank you for all your responses.