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

(75 Posts)
twinsnikki Thu 01-May-08 16:27:37

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
sad

spiderbabymum Thu 01-May-08 18:47:55

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

http://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

Twins, you may have seen this but I wanted to know a bit more about the LCHAD issue and I found this site:

here

which I thought had some rather positive advice and this child seems to be doing really really well. I know nothing about this condition so I'm sorry I can't offer any practical advice but it looks like other families are finding ways to manage this and have their children lead very happy productive lives.

xx

twinsnikki Fri 02-May-08 22:28:23

Gargarin,

Thanks for your posting.

You are right, I suppose I have a lot to be thankful for.

I have been bumbling around blaming myself and its true, I need to remain positive!

I will keep you all posted.

Nic
xx

twinsnikki Fri 02-May-08 22:31:45

Thanks to everyone for your wonderful messages. You have made me feel less alone with this thing.

I know I have DH, but inside I have my own personal crisis going on.

I am amazed at your mails.

Lost for words.

Will follow up on the site links you have supplied (thanks for those, much appreciated more than you know.

Nik
x

MarsLady Fri 02-May-08 22:32:58

<<proffers ample bosom for a huge, tight-squeeze hug>>

umberella Fri 02-May-08 22:45:16

Also just wanted to send love and best wishes to you and your LO's xxxxx

Ledodgy Fri 02-May-08 22:47:58

Huge hugs from me too. What an awful shock.

twinsnikki Sat 03-May-08 14:01:36

Hiya everyone,

I have light at the end of our very dark tunnel..wink

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

She was fantastic (Deb).

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. grin

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 their health, 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 hope that we can perhaps control this thing.

I am sure our family have a huge learning curve to come, which will involve changing lifestyles, diet and understanding the limits of having two VLCAD children.

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 for everything {{{{HUGE CUBERHUG AND KISS}} and I highly recommend FODs for metobolic disorder information.

Nic
xx

http://www.fodsupport.org/lchad.htm

used2bthin Sat 03-May-08 14:17:04

Hi Nikki, I posted on your thread in the special needs section but just wanted to say that having looked on the links about your DD's condition, there are similarities in the management of it and that of my DD's condition so if you ever wanted to talk more, I am very happy to do so as I understand some of what you are going through and have had over a year to come to terms with it and learn more. I'm very glad things are looking more positive for you all.

used2bthin Sat 03-May-08 14:22:35

Oh I feel a bit silly now didn't realise this was the ultiples topic sorry, I haven't got multiples I just saw it in active convos then was confused at first when it was a different thread! Anyway, offer still stands to get in touch x

Egg Sat 03-May-08 15:12:15

That's great news nikki smile. So glad that it looks like you will be able to control this awful illness and your girls will have a much brighter future.

spiderbabymum Sat 03-May-08 19:56:18

Nikki ,
Well Done You .... For keeping the head together .
So impressed that you managed to do all that research and source Exactly what you and your family needed ...ie more information .
You must be going through an emotional roller coaster at the moment . Really exahusting EH ?

Just to say best wishes to you and your girls .
Feeling quite emotional now . So Moving to see what a mother can do ..........
Take care of yourrself .!!!!!!

spiderbabymum Sat 03-May-08 19:59:14

Oh and forgot to say Delighted to hear that things are looking so much better .

kama Sat 03-May-08 20:08:12

Message withdrawn

colacubes Sat 03-May-08 20:12:50

Bloody marvellous, gave me a cold chill reading your thread, and a warm shiver when i heard your latest news, fanbloodytastic, never stop asking, and pushing, well done you!!

charleymouse Sun 04-May-08 00:35:32

big hugs Nic, thinking of you and your girls. Glad you are feeling more positive and have some answers.

MarsLady Sun 04-May-08 01:28:25

smile Onwards and upwards my lovely! Good to hear that there's a light. smile

AbricotsSecs Sun 04-May-08 10:04:22

Message withdrawn at poster's request.

twinsnikki Thu 19-Jun-08 20:37:01

Hiya all,

I have not posted for a while.

So here goes...

They have established that they are looking for VLCAD. I have posted some info below.

Very long-chain acyl-coenzyme A dehydrogenase deficiency:

Very long-chain acyl-coenzyme A dehydrogenase deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Normally, through a process called fatty acid oxidation, several enzymes work in a step-wise fashion to break down (metabolize) fats and convert them to energy. People with very long-chain acyl-coenzyme A dehydrogenase deficiency have inadequate levels of an enzyme that metabolizes a group of fats called very long-chain fatty acids.

Typically, initial signs and symptoms of this disorder occur during infancy or childhood and include low blood sugar (hypoglycemia), lack of energy (lethargy), and muscle weakness. People with an early onset of very long-chain acyl-coenzyme A dehydrogenase deficiency are also at risk of serious complications such as liver abnormalities and life-threatening heart problems. Symptoms that begin in adolescence or adulthood tend to be milder and usually do not involve heart problems. Episodes of very long-chain acyl-coenzyme A dehydrogenase deficiency can be triggered by periods of fasting, illness, and exercise.

My ladies have had loads of stuff done. Kidney Scans/Liver Scans/Biopsy. The 'D' day for the results was suppose be June 8th. However, some of the tests were not complete and due to the WW2 Bomb the appointment was moved until 18 August!

My little bunnies are due to start school in Sept and at the moment with the sicknesses that have been around, have spent most days at home with me - and the lack of sleep is killing me!

We have had to instigate an emergency feeding regime of every 2 hours day and night, with a glucose substitute Maxijul, provided from the hospital.

We have informed the new school and the 'special needs' counsellor and also the welfare contact - after all she will be banging on our door very quickly due to their lack of attendance due to illness.

angryWhat really got me about the welfare contact was she said that if the girls could not come to school due to prolonged sickness, then they would send the work home! I am all in favour of this, but the point she missed was have you ever tried to teach two children who have been woken up every two hours during the night, forced to drink 120 of a solution? They are not fit for anything as they are sleep deprived...not to mention my brain being fried! I have such large black bags, one of my friends was concerned I have black eyes. I am walking around feelign like they thing my dear husband is a wife abuser.....!!

Our local hospital (childrens A&E) are still none the wiser about this condition(despite us giving the information to contact the team in St. Thomas's and the contact numbers - which they didnt do). We have been asked by St Thomas's to take the kids there in event of an issue. My problem is that if we need serious medical assistance, (ie blue lights), they will only take us to our local hospital and not St Thomas's.

We have had a impromptu test of this process and found ourselves being the knowledge for the staff and they refused to do the correct tests necessary, they discharged my daughter to home, even though tests at St. Thomass the next day proved we had an issue.

I feel I am banging my head against the wall. I have contacted the medical advice team for the NHS to enquire if I am able to ask ambulance crews to take us to St Thomass, and they have said they will only take us to the hospital from hell....!!

Sorry to rant but lack of sleep and major stress is causing me to fall apart! sad

Why do the medical fraternity no listen? Why is everything just so hard to do?

Nic
x

MissingMyHeels Thu 19-Jun-08 20:44:32

Gosh that sounds hard work Nikki, also sounds like you're doing a fab job grin Hope all the results are good news for you. Is the 2hourly solution a long term plan?

twinsnikki Thu 19-Jun-08 20:45:08

Sorry all, forgot to mention...

One of my daughters had been identified to be Asthmatic and now has a steriod pump.

I was reading the information on VLCAD the other day and it said that care should be taken giving children with this thing, any form of steriods.

As we are waiting for 'D' day, without the protocal sheets etc (which are provided once they know the true extent of the spectrum the girls are), this stuff seems to being ignored....I am worrying myself sick every day when I am giving the medication.

I have no idea how they treat an asthmatic VLCAD child. I am sure I am not the only one, so there must be a solution out there???

Heres hoping..

Nic
x

Message withdrawn

twinsnikki Thu 19-Jun-08 20:51:28

Thanks Missing.

Yes, I am afraid it is...

For every illness we will need to do this plan.

We tried to take them to legoland a few weeks ago to take some of the stress away.

First day we arrive, one of the girls begins coughing...when I looked at her tonsills they were awful.

The hotel were fantastic. We had to explain to the staff about the illness and the problem. They rang Ascot A&E, and a doctor there rang us back. He wasn't aware of VLCAD but went out of his way to find out what he needed to know - bless him. So first night of the trip we got a free tour of Ascot A&E grin

The doctor was very good! Treated her and we were back at the hotel within the hour with medication. We had to keep coming out the park on day two to make sure she drank her solutions!

Oh the joy!

Nic
x

Saggarmakersbottomknocker Thu 19-Jun-08 20:51:31

Twins - SM's idea is a good one. You need to get a written treatment protocol from St Thomas' that you can carry with you.

As regards school - there is some info on the DFES site regarding education and children with medical needs. I have to pop out now but if you haven't tracked it down by the time I get back I'll post the link.

Are you claiming DLA and carers allowance?

gagarin Thu 19-Jun-08 20:53:56

My local hosp has a passport system which means that parents can bypass A&E and go straight to the more well informed children's ward. Discuss this with the GP?

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