My world has ended - twins diagnosed with LCHAD...

[twinsnikki]

Hiya All,

I am devastated. My twins - 4 year old girls have been diagnosed with LCHAD.

It is an enzyme problem, we are currently under St. Thomas's.

It doesn't have a good mortality rate... some medical papers state a large percentage of kids do not survive within 3 months after diagnosis!!

When the kids are sick, their bodies cannot sustain them, in complex sugars and they end up hypoglycemic....which is what happened with our little bunnies...

3 weeks ago, one of my daughters was on the verge of a coma, due to this condition.

I had 15 days of hell, one on them in ITU, and the other admitted 5 days after her sister. The doctors did not understand what was going on, but intensive tests on their blood has show LCHAD to be the problem.

We have been given an emergency feeding regime. If either of them fall sick with anything, the includes flu or such like, we have to implement this feeding regime and feed them every 2 hours day and night, until the illness passes..

I am trying hard to not blame myself, as this is a genetic disorder. Both my husband and myself carry the defective gene.

Constant espisodes can caused damage, like ADHD, Speach/movement difficulties... and last but not least Cerebal Palsy...Oh did I mention the sight problems in later life???!!

Has anyone out there got a child or multiples with this rare condition????

Seeking positive outlooks.....

Nic
x

[ajandjjmum]

I don't know what to say, but I couldn't say nothing.

So sorry - hope someone knows something about this.

[spudmasher]

Bumping for you and hoping someone out there has some experience.

[Blandmum]

I'm sorry to read your news and send you every best wish.

I do know some children who have MCAD, which I know isn't quite the same and is 'easier' to deal with.

You must not blame yourself. We all carry genes that are 'defective' in some way, it is just the most awful bad luck that both you and your dh carry the same rare genes.

The children I know cope very well. One is in full time MS school and one is in a share of MS/ special school.

I'm sure that there will be people along soon to help you, but given how relativly rare this is, it might be worthwhile looking for a LCHAd group to ask for support as well as MN

[MarsLady]

I'm so sorry my lovely. Have you tried TAMBA?

I wish I could do something to take that away for you.

[TheMadHouse]

I couldnt let this go without sending you might thoughts. I am so sorry and hope for the best

[hairtwiddler]

Bumping in the hope of some positive stories out there. I'm sorry to hear your news, and wish you strength.

[yurt1]

What a shock for you
Do post on the special needs section (not special educational needs). There are a number of people on there with children with rare conditions.

[margoandjerry]

you poor darling and your poor little girls.

I hadn't heard of this - I'm so sorry but I send you best wishes and hope you find ways to manage this condition.

[Egg]

Oh nikki I am so so sorry. I have not heard of LCHAD but just wanted you to know I am thinking of you and your lovely girls.

[oiFoiF]

nicki, Im really sorry do pop over to the SN board though when you feel ready xx

[shabster]

Oh my love - I have no experience whatsoever of this but I had twins in 1981 and I know how hard it is if one, or both, are poorly.

Think I agree with Mars about TAMBA - If they cant help I am sure they will know someone who can.

Sorry I cant be of any more use in a medical way but I am sending love and a massive hug for you all.

[hertsnessex]

oh im so sorry to hear this. def try tamba, is there also a support group specifically for this?

[pinkmook]

Nothing helpful to say really but my heart goes out to you and if I could hug you I would. I cant even begin to imagine what you are feeling right now

[twinsnikki]

Thank you to you all for your wonderful messages of support, as it is so rare, not much is known about it.

It was only medically discovered in 1982, and currently babies are heel pricked for the sister condition MCAD. But this was lobbyed for in 2004 and implemented. Mine were born 2003!

As mentioned in this thread, is it very similar to MCAD but can be more complexed to control.

Feel like I want to wrap my ladies up in a bubble....helpless this end...

Have posted on the special needs area but if anyone out there knows of anyone with kids with this and is managing it successfully, I would love to hear from them.

I have contacted 'CLIMB' who are a group for conditions of this type but nothing yet and I have just posted to TAMBA, to see if they have anything.

What I think we really need is a to attend some meeting somewhere with other parents with this issue.

Nic
xx

[RTKangaMummy]

{{{{{{{{{cyberhugs}}}}}}}}}}}}}

[oiFoiF]

have you tried contact a family?

[Blandmum]

CLIMB is a good group and I hope that they get back to you asap.

I know that LCHAD is harder to control, but the children that I know with MCAD really do very well.

Hope that you get some support soon, sending much love

[gagarin]

Well - you asked for the positives...here we go!

Your lovely DDs have got to 4 years old without showing any signs of being permanently damaged by this genetic disease. That is amazing.

It is not a curable disease but it sounds as though you can avoid long term damage through a feeding regime when they are unwell. The feeding reginme does not sound as though it will be painful and they will not have to have loads of operations.

Your DDs did not suffer cot death or a near miss which apparently is how some of these metabolic problems present - someone up there is looking after your girls!

Thank goodness their first crisis happended in the UK close to such a great hospital as St Thomas's - what if you'd been in Thailand or somewhere on the holiday of a lifetime?

Obviously you must be absolutley gutted for your girls and shocked at such a rare diagnosis - but you are in good hands and the docs can help you look after your dds really well to ensure they live a good life.

lots of hugs

[DarthVader]

I can't read this without replying, but I don't know what to say that will help you, so I am sending a lot of cyberhugs. Keep posting.

[ChutneyMary]

I'm so sorry. I don't know about this condition but I hope you get the information and support you need soon. All best wishes to you and your girls.

[iamdingdong]

oh so sorry to hear this I know nothing about the condition i'm afraid, but much love to you and your girls (my DTDs were born in 2003 too) you are all in my thoughts x

[spiderbabymum]

Sounds incredibly stressful for you .

Try not to loose Hope .

There is a website for Families with rare conditions .
Found this one By putting "rare medical conditions " into Google...so Im sure its not the only one

www.cafamily.org.uk/Idx/l.html

It might be a start .

The other thing is to talk to some of the specialist nurses at the hospital....They should be able to point you in the right direction

Good luck