Twins diagnosed with LCHAD - Devasted. Anyone managing children with this???

[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 cause 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

So sorry to hear this, I'm sure someone will be along soon, that will be able to help.

Bumping for you - I have no advice but wanted to send you positive thoughts for you and your girls.

If there's nobody here who knows about this, there's CLIMB which is a natinonal support group for children with metabolic diseases here

You could also try Contact a Family as they're pretty good at linking families with rare conditions and at providing advice on what help is out there for families who have children with rare conditions.

crimplene,

Thanks for that, much appreciated, I will try your links.

Nic
x

twinsnikki, you sound like you have had a god awful month aswell so PLEASE look after YOURSELF too xx

Thanks Riven, for that.

Wish me luck!!!

Nik
x

Nikki - know nothing of what your girls have been dx with, but wanted to bump this and send my support. Take care of yourself, and I hope you continue to post here on the SN board.
We all have children with different conditions, but we have in common the knowledge of what it feels like when life throws a curve ball at you. Wishing you all well x

Nothing to suggest just to send you virtual vibes of support. Do whatever you need to do to look after yourself.

Wishing you every good wish.

More thoughts of support for you and your family. Wishing you all the best X

Hi Nikki, I'm afraid I haven't heard of the condition either but my DD also has a condition which, if it isn't carefully managed, could be fatal. It is carefully managed so she is doing well but I can understand a little of what you are going through. When she was first diagnosed I spent a lot of time on the internet and sometimes it was very distressing because treatment for her condition has improved dramatically so some of what I was reading on mortality rates etc was out of date. I got in touch with CLIMB and would also recommend them as they were so helpful to me, I asked them some specific questions and they posted me a whole load of information and research about what I asked about. Also they tuned out to have a kind of sub group specifically for DD's condition who have just been invaluable, I have now met other parents and e mail a couple of them regularly and it is so helpful. I'm sorry to hear about the hard time you have been having and hope you get the support you need.

i dont know anything about this condition, but suggest CLIMB as well as a good place to start looking

my children are all affected by a genetic condition and i onlyfound out recently, so understand the guilt and certainly wouldnt have had more children if i had known about my oldest.
it isnt your fault though, so please dont blame yourself
everyone has genetic mistakes and the chance of meeting and having children with the same geneic mistake as you are slim.
i am sure that CLIMB will help you reach out to other parents of children with the same condition.

We thought ds2 had a metabolic disorder that would have been severley life limiting but he doesnt thankfully, but we saw a great doctor in metabolic disease at GOS.

The very best of luc, I am sorry to hear about your twins dx, and hope the doctors can give you something postive to look froward to.
there is great research being done into enzyme defieciencies and wit enzyme replacement therapies, so dont be too negative.

big hugs

Hiya everyone,

Thank you so much for your wonderful mails of support.

News update. I contacted FODs and was rang back from the US by one of the founders.

She was fantastic. She explained a load of things to my husband and I. One of my daughters has been suffering leg pains and unable to work, and 'Deb' explained what this meant.

Due to her call last night, we followed up with our A & E department (who didn't have a clue) and then with St. Thomas's, and they were fantastic.

Just spent the whole day at the hospital, and the staff were kind and considerate. They took the time to explain the disorder and gave us a load of information.

My daughters underwent more tests and a biopsy but we found it that it is acutally VLCHAD, which is even more uncommon.

They will have issues, with pregancy and enjoying themselves in later life but because they are now registered with St. Thomas we are in the best hands.

It's weird, in the last 24 hours, we have gone from devastated, bumbling around in the dark to hopefully that we can perhaps control this thing.

Even though one of our daughters is currently going through a 'crisis' we are aware of this and informed as to what to do and expect.

Thanks to you all and I highly recommend FODs for metobolic disorder information.

Nic
xx

Sorry for the typos - knackered

Excellent news, I'm so pleased things are looking more positive for you all.

So glad to hear that you are feeling more positive, I remember well the relief I felt after speaking to the chairperson of our support group and hearing about her son who also has the condition. I will be googling FODs myself now they sound great.

Very glad to hear you're feeling better and you've found some others; it makes a huge difference finding other people doesn't it?

Dear all,

Here is a link to the FOD site, some of you may find it very useful.

I can't praise 'Deb' more, she was fantastic and is a really barrel of strength for us.

The group is excellent.

www.fodsupport.org/lchad.htm.

The group were highly praised by St.Thomas's, when I mentioned I had been contacted by them.

Nic
xx

My son has got the same condition as your girls!
I can empathise so much with how youre feeling,I have never posted on mumsnet before but i so want you to know that there are others out there in your situation. He was diagnosed at three months old when he got critically ill and he is now six years old and doing really well. He is on a very low fat diet and drinks a special milk formula every two hours and he has got a gastrostomy tube and gets pump fed through the night. Like you have said,when the children are ill they are in great danger and we have had lots of hospital dashes to get him on a drip in time. As it is such a rare condition the doctors and dieticians are learning with us about it and it is often scary and difficult to deal with,but he is a bright,happy little boy. Thinking of you,and any questions,im happy to answer.