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

twinsnikki Thu 19-Jun-08 20:58:32

Starlight, thanks for you mail.

This is one of the things I am in the middle of trying to sort out.

I did contact the necessary staff at St. Thomas's but they were unavailable and I have left a message, regarding the possibility of getting something in writing that insists on the transfer. Not heard anything yet.

I will let you know how I get on. I wondered whether the LAS had a list for specific conditions that allowed this kind of delivery to take place, but the don't.

As you right stated, it would involve going to the hospital of hell first, then needing a transfer, which to me, mad sleep deprived mother...thinking was a complete waste of time and energy. It would save a trip if we were able to be posted to St Thomas's?

The NHS medical team said what is more likely to happen is the team in the HFH contact St Thomas's for instructions of what to do...hence no transfer, for me the idea just fills me with dread...

They are playing with my honeys life...

Nic
x

Twins: Keep going! You'll get there!

It makes me soo angry that people who are vulnerable can be treated so apallingly (and anyone needing to access NHS treatment is vulnerable imo).

One step at a time you need to find out your rights!

I'm sorry I'm not very experienced in this area but things that come to mind are:

Goverments policy on 'choice' (surely now you can choose your hospital for treatment) and therefore insistence on referral!

MP letter of support

GPs letter of support

Refusal to get out of the ambulance at horror hospital (although will need to make judgement call at the time obviously)

Perhaps there are more knowledgable people out there!?

You can also possibly get a transfer by just asking tooooo many questions. In the end they might just feel it is better to transfer you than keep having to ring up St Ts to ask!!

twinsnikki Thu 19-Jun-08 21:07:26

Saggar/Gagarin,

Thanks for the mail.

What is DLA and carers allowance?

DFES site - will look for that right now.

Hey, I like the idea of the passport, never heard of that before! Will definately contact my GP re. this.

The HFH were suppose to have a 'red'file in the childrens A&E, which identifies the girls issues and is 'suppose' to prevent us joining the normal queue. We were told to mention the red file.

Well we did and guess what?? There was no red file, so we sat for 4 hours only to be sent home incorrectly.

YOU ARE ALL SO FANTASTIC!! [GRIN]
Thank you from the bottom of my heart.

Frustrated super bags - Nicx

CarGirl Thu 19-Jun-08 21:09:55

DLA - disibility living allowance, the girls should qualify for this

Carers Allowance - a benefit you should be able to claim because you are looking after "disabled"/ill children ie you are unable to work because they need care

twinsnikki Thu 19-Jun-08 21:15:58

Starlight,

I loved your mail, you made me smile, I thank you for that grin.

Not sure wether an ambo 'sitin' would do the trick and I found re. the question thing, it lead to being treated really rudely by the doctor in charge. Almost like I was questioning their judgement!

The more I pushed the less they listened! I ask them if they could check the CPK levels which involve a blood test, they simply did a finger prick sugar test and said it would not show anything...well, hey, it did at St Thomas's the next day.

The white blood cell count was up, indicating the fighting of a virus!!!

MP - yet another good suggestion...I did think of involving my local rag - being a friend of mine actually works for it...you know - name and shame approach...somewhere to vent my frustration.

My husband is very conservative and I know he would not approve of this approach, due to everyone knowing his business????!!!

What can I say??

Nic
x

twinsnikki Thu 19-Jun-08 21:18:03

Cargirl,

Thanks for the mail.

I have never heard of this before...I shall look into it, see whether they qualify.

Nic
x

CarGirl Thu 19-Jun-08 21:20:07

I don't know much about these things but if you post a new thread on the special needs forum there will be people able to point you in the right direction.

I am shock at them telling you they will send work home if they miss too much school, just remember until the term after they are 5 they don't even have to be at school so just don't worry about it.

twinsnikki Thu 19-Jun-08 21:22:14

Dear all,

I need to sign off, but promise to read any other tips or advice you have out there, tomorrow.

I have found myself sitting at my machine for hours, digging around for glimmers of information and you have given me tons to be concentrating on in a few mails.

I promise you all I will be doing a lots of the things you have suggested and be looking in to the possibilities I never thought to explore.

I appreciate you all more than words can say right now, thank you for taking the time and effort to help me.

Don't know how I would cope without it.

You are all amazing.

Signing off for now.

nic
x

MissingMyHeels Thu 19-Jun-08 21:27:30

Where in London are you Nic? (roughly!) and how far out of catchment is it for St Thomas' as I was under the impression that you could choose any hosp in trust - in my case St Thomas', Kings College and St Georges I think.

I know it's probably easier said than done but try and treat yourself to something nice - pedicure/massage etc. Do you have good hands on support from family and friends too?

bozza Thu 19-Jun-08 21:36:03

I am sorry about what I have read - must be so worrying for you. But definitely think you should look into extra support/help you need wrt carers allowance, DLA etc. Maybe the girls will eventually need some home tutoring or something. I know they are currently too young to worry about this, but if they miss a lot of school - just sending the work home is hardly going to be the answer is it? hmm Still I suppose you have other priorities just yet like stablising their health. Is there anyone who could come in and do the night feeds once in a while to give you a break?

me23 Thu 19-Jun-08 21:43:36

no experience of this but I wanted to wish you and your girls all the best x

MUM23ASD Thu 19-Jun-08 21:48:28

Hope you don't mind...but having read this, and feeling so much for you- and knowing nothing about LCHAD....

I posted a link to this thread on the Special Needs board- as i am sure someone on there will be able to help you with specific questions regarding your twins and also regarding Disability Allowance etc

I have 3 autistic boys- and have been using the Special Needs board for 5 years! there are many regular posters on there who are familiar with hospital procedures, medications and jargon

Hope this helps you in some wayxxxx

Saggarmakersbottomknocker Thu 19-Jun-08 22:11:37

nikki - here is the link for the info about school.

Here for Disability Living Allowance.

Don't be put off by the 'disabled' bit - it's for people (children) who need more care than usual. You claim on behalf of the girls - you need to do a claim for each of them. I was thinking that you may be able to use the money to employ an occasional night carer thus giving you the chance of a decent night. The forms are hard work but you can get help on the SN board.

Romy7 Fri 20-Jun-08 09:41:41

it might also be worth posting on the special kids in the uk website - there are all sorts of kids with all sorts of conditions, and they are demons with paperwork if you get stuck...

twinsnikki Fri 20-Jun-08 15:08:24

Hiya Everyone,

I return to you all, bushy tailed but certainly not bright eyed!

In my spare moment I am writing to you all, once again to say a HUGE THANKYOU to everyone out there, you are all a tower of strength.

Today (looks for a LARGE PLANK OF WOOD TO TOUCH), touchwood, girls are in preschool today. We actually had a good night, so for me and hubby, a bit of a relief! Girls woke up themselves at 12am and again a little later, fairing the interuptions from us.

Hopefully, there is nothing they will bring home!!!

Answer to all your questions...bear with me if I miss any...

{Missing} - I am based in Bromley and Kings College is probably about equal distance from us, in comparison to the HFM - Lewisham. sad

The options we have been given previous are Farnborough or Lewisham. Lewisham are regarded as the 'specialist' childrens hospital, and from experience of Farnborough I would not be at all keen to take them back there.

Asking about this ambo issue is one of my first priorities on the 18th August when I have my appointment. I have a friend who is a doctor and as posted up by another lovely person last night - re. passport, I am finding out about this as we speak.

{Saggar} - thank you so much for posting the links. I did take some time yesterday looking at the school site but as soon as I sign off I will look at the DLA one. Agree about the nightcarer thing.

Re. assistance, there is just hubby and me. Our families are not local at all, or much too old to assist us...infact need assistance themselves grin

I spent most of last night talking to my hubby about you all and the information you have all so kindly spent time supplying. Who said romance was not dead wink

{MUM} - thank you for your advice also, you have your hands full and yet are still finding time to mail - I take my hat off to you....thank you so much.

Have you ever been in a position where the word 'thank you' doesn't seem big enough to fit the bill??? Not even THANK YOU describes my gratitude to you all. grin

I am off to make some calls, look at some of the sites and work out my next course of action!

Nic
xxx

MUM23ASD Fri 20-Jun-08 15:33:56

twinsnikki Wed 25-Jun-08 15:40:33

Hiya All,

Just an update of the info I have found after all your advice.

I checked out the sites you all gave me grin,I also looked around for other mothers that have tried to claim carer or disabled allowance.

Re. Disability allowance, at the moment there are mothers who have children with MCAD - (same type of thing but lower down the fat chain). They have been refused and have had a battle to appeal. In some cases the appeals have failed and in others, they have fought and fought, eventually have won a 'mid'rate allowance. So it is a real hit and miss affair.

Re. Carers allowance, this is apparently 'means' tested. As I work full time I do not qualify for this, as I earn too much and do too many hours.

I have also been to see my doctor about the Ambulance situation (also, charlotte has now been confirmed as Asthmatic too, so I have both on steriods). The doctor told me that this has to be an arrangement agreed with us and the authorities. Until I have all the protocol stuff in hand, I am unable to move further with this.

I was however, really pleased to see the authority information about their responsibility for providing help when the kids are sick - home teaching etc. I am due to attend another induction day tomorrow, so will address this again with the specialist needs member of staff.

This will be the girls first visit, so it is a big moment for them, bless them. You know how it is, your little babies growing up wink

The girls have been off for the last few days with me with pains in their feet/ankles. I did attend the emergency doctors but couldn't see anything, so just watching her. But today, they are in preschool - first time this week.

I felt positive about them going in, but was a little concerned when one of the twins complained that her toes were hurting and wouldn't walk on it. When I checked it was due to a hang nail on her little toe - which I removed and then took a sigh of relief! grin

I have not given up hope, there has to be help out there somewhere, I am thinking of contacting the DWP about the disability issue to see what they say.

Best wishes to all of you out there.

Nic
x

MissingMyHeels Fri 04-Jul-08 17:40:46

It really does seem like an uphill battle - you sound like you're doing so well. Seems like you are at least starting to make a bit of progress with the ambulance issue, at least they listened!

Hope you and the girls are doing well this week.

lucyellensmum Fri 04-Jul-08 18:44:43

twinsnikki, i have just read your posts open mouthed. You are an amazing woman, your little girls have the best mummy they could possibly have. Many others would just curl up in a ball, but you have got out there and fought for your girls. I truly hope you manage to get things settled and sorted and get on with life with your beautiful ladies. xx

MsDemeanor Fri 04-Jul-08 18:48:02

The single best bit about DLA I have ever heard, and which, I think, made us get DLA when loads don't, is to start every single sentence with 'because of her/his condition'
So in my case it was 'because of ds's aspergers and dyspraxia he cannot access after school clubs/be left unattended at other people's houses/be permitted to cross the road/brush his teeth/whatever'
It is the golden rule, I think. That and 'lay it on with a trowel' - ie think of your worst ever day and describe that.
Do appeal!

MsDemeanor Fri 04-Jul-08 18:49:20

Also, send in every single report you have on your dd's condition, and ask a friendly doctor or ed psych or occupational therapist to write a special report to attach to your application.

milge Fri 04-Jul-08 18:59:06

I thoroughly agree with Msdemeanor's commnets. Stating the obvious is the rule with DLA. We were told to to use the phrase" due to ASD, or GDD, dd does X" and without an appeal necessary, dd got awarded higher rate on both care and mobility. Do not exaggerate if not needed, but do think of your worst day and describe it and the difficulties, in minute detail. Good luck. I have twins too, one of whom is NT, the other ASD and GDD, due to a genetic mutation. Its tough. You sound strong and a great mum.

Giraffescantdancethetango Fri 04-Jul-08 19:08:01

hope the girls are doing alright

Joey0 Fri 19-Apr-13 15:41:09

Hi sorry a few years too late but my son has LCHAD and he is now 11. I wish I had seen ur post earlier because I have been through most things!!

MultipleMama Fri 19-Apr-13 21:05:00

I have no experience and I'm sorry that this is happening to your girls. I came across a blog, you might like and maybe contact them for support and advice. http://lchad.com/

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