What other conditions are like this - normal mental development, serious health problems, possibility of death in childhood/teenage years?

[emkana]

Atm I am constantly feeling extremely anxious at the thought of ds's possible diagnosis of Jeune's syndrome being confirmed (and I feel that it will be, it all adds up really).
It's just such an awful condition - he would grow up to be faced with more and more serious health problems (lungs, liver, kidneys) and a very, very real possibility of not reaching adulthood.
What other conditions are like that? I feel I need to speak to people who would know what it feels like to have a child who is "condemned" in that way. Jeune's syndrome so rare that it's difficult to find fellow sufferers.

Do you really want to do that now, before he is diagnosed? There are numerous conditions like this - including Duchennes Muscular Dystrophy and there are websites for parents of children with Jeunes, if that is what he has.

My friends little girl has mitochondrial syndrome and they have said her life expectancy is about 13 She is making do much progress though, sometimes I find it hard to belive.

I have been there though emkana, I still go there sometimes. My little girl is seven years old and with no diagnosis. I dont know what the future brings at all. We just try and focus on the positive and not the negative now, but I feel for you that will be a long way off yet.

I think you just have to plug along and be grateful for what you have. Seek counselling for yourself if you need it and just try try try to keep positive

He is sort of diagnosed though, in that a specialist in Germany thought it was the most likely diagnosis, and in that there is no alternative diagnosis being put forward.

Yes, I feel atm that I need to do this.

Try

www.jeunesfamily.org/

or

{http://www.geocities.com/HotSprings/Chalet/5523/}

Emkana, if you really want to do this there are loads of conditions that mean children deteriorating and not normally reaching adulthood. As sorell says, DMD is one, but there are all the storage disorders too, like Hurler and Hunter syndrome, and the leukodystropies. The problem is that I don't know of any others with such an enormously variable outcome as Jeune's, and that will mean you won't have quite the same common ground. Contact a Family would probably be the best place to start if you really want to. Have you made any progress with sending the X rays to the US?

Contact a Family , sorry.

Haven't sent them yet, now that they've agreed to look at them I suddenly hesitate to do it!
I will though. Just wondering whether to wait and see what the specialist in Bristol that the consultant sent the x-rays to has to say first.

I have posted a genetics question btw, will bump.

Will look

Sorry, I just realised that you said normal mental development in the title- a lot of the conditions I listed (like leukodystrophies) have deteriorating mental conditions, although normal development initially.

I never saw the normal mental development thing either, sorry

Retts is development disorder though and normal mental development usually deteriorates by the age of one year old

cystic fibrosis is an inherited genetic condition that affects the heart, lung and pancreas with a normal age range of about 30

When my dd was 4 months I was sort of where you are now em. Dd had just been diagnosed with her heart problems, had surgery and starting a long spell in PICU. We were told that the surgery was pretty much to tide her over for a while, that she would improve, then deteriorate, then either have a transplant or die. She was in multiple organ failure too and we were unsure what liver/kidney function would return. The mental development was also questionable as she'd been vented for a long period and had a bleed.

They were dark, dark months. I was with her every day but sort of at arms length IYKWIM because I didn't want to love her then lose her.

She did improve - more than they would have me believe. I know she surprised them. The deterioration hasn't yet happened and I'm hopeful that it can be held off for a long time yet as she now has more medical and surgical options. I am yet to find an older child with dd's condition - I know younger children - testament to medical advancement and there are older children, adults even, I just haven't managed to make contact with anyone.

I think I'm trying to say that the future may look bleak now but that isn't always the way things turn out. If you walked into my home this evening you wouldn't know which of my children had (and still does) put me through so much worry .

I know that you need to know what you may face. But whilst you are trying to gather that info don't forget to enjoy him Em. For now he's OK, yes he's already had a couple of battles to fight but he's putting on weight and smiling. Have an eye on the horizon but don't forget to live today.

Hugs

My friends littleboy has Battens but that is more nuerological

emkana, its a minefield honestly. i know how you feel but I think it would be best to wait

Most Rett patients go downhill from about 2 years though, so again not quite the same, as they don't have the scope for normal mental development first. I think talking to other Jeune families would probably be best, really.

Sorry Fio, cross-posted.

Saggar, I'm so sorry, Does your dd's condition have a name? FWIW I was at university with someone who had such a severe heart defect that no-one had previously lived past the age of 7 with it. He died in his mid-twenties, but that was because he had one of the first ever heart-lung transplants and it went wrong.

DMD boys usually have normal mental development, and till fairly recently weren't expected to see their twenties. They tend to develop more health problems (heart, lungs) as they get older.

emkana I have followed alot of your threads and I do feel for you, and the uncertanty facing you both long term and short term.
Please Try to enjoy the little boy you have now, none of us know what the future holds for our children for sure, and many apperantly healthy NT children get struck down with illnesses, cancers, menigitus, accidents etc
i hope this is not insensive of me, you have so many questions you are looking for answers for, and it will probably be along time before you are fully informed of your childs prognosis. Try hard to keep positive and enjoy your baby.
It seems everyday I hear of another tragic death of a child or young person, perhaps I notice these stories more now that I am a mother, enjoy your child whilst you have him