Feeling really helpless

[mole]

Hi,

My little Dillan doesnt seem to be doing to well and i am sick of waiting for appointments only to have them cancelled. The doctors don't seem to be sure of what to test him for.

He isnt growing as normal,  His weight, height and head circumference are below the 0.4 percentile mark. He also appears to have problems with his teeth. I am taking him to the dentist today to find out if he has either one of two problems. Both of which are quite rare so unsure whether the dentist will have even heard of them.  I hope he hasn't because if so the poor little mite will have to go through so much in his life.

I am just feeling a bit helpless I don't know what to do. I have found a private specialist (one of the best in the world) but for one consultation it would cost around £300.

Has anyone here been (or know someone who has) to see an Endocrinologist?

[chaos]

I'm sorry your having a tough time getting anywhere with your doc....£300 is a lot of money but at least it will give you the info to know what you're dealing with.

[cas]

I'm not sure what to advise hun

I have had friends who have paid private only not to have the diagnosis acknowledged by their national health consultant.  So if you can't keep up with private fee's could lead to more stress.

My only advise is i know how tiring it is, but keep pushing for those appointments and let us know how you go on, talking does help

[mole]

Dentist wouldn't confirm a diagnosis either She was very young and said i would have to see the childrens dentist at Alder Hey.Yay even more hospitals.

She was trying to say that his decay may be due to his diet but as he eats very little we have to give him what we can to keep is growth up. I dont think she really knew her stuff as he only has a couple of biscuits and his front teeth came through that way.

 As usual i get told i am being overprotective mother again. I think that my son having 2 teeth with holes in and another 5 to be watched is worrying.

[cas]

aw hun

Dr Lewellyn is brilliant at Alder Hey if thats any comfort.  Because of Loui's severe learning difficulties he attends to Loui himself, and is very thorough.  Hope you get the appointment soon.

[Groovy]

Sorry to hear you are have a rough time of it.

I know the feeling about appointment being moved or cancelled; we had one today trying to reschedule one of Benj's in Feb now September - I don't think so 

Has the GP (or child health professional) said they suspect a hormone imbalance or issues with growth to refer him to an endocrinologist? or is there a history in the family with a particular endocrine condition!

Have they referred him to the community paediatrician!

I know in our case, ('cos Benj condition is so rare - 50 in the world) that if I wasn't a 'professional' we would probably have been branded as havingMunchhausen's

Only you know if something is wrong with your child, & we are all here to support you emotionally.

 

[mole]

Hiya Groovy,

Thanks for your post I really appreciate it.

Dillan's head circumference was first picked up by the health visitor around 8 months we were sent to the GP who then referred us to the community ped.

 She then examinind Dillan and noticed he was very bendy so he was reffered to Physio. The Physio said there was not a problem.

 I then went back to the GP to get him reffered to someone at the hospital. He is now under Dr Mc Bride at Ormskirk even though he has only seen a registrar there as Dr Mc bride has cancelled or been sick.

He had blood tests done at the hospital, the main one being for coeliac disease all came back clear except one indicating an infection which was possibly due to a cold. I have no idea what the other tests were done as the registrar was rather hard to understand.

These blood tests are going to be repeated and he is going to see Dr Mc Bride on the 19th.

Sorry for rambling on just thought it best to mention everything

[mole]

We have no family history that we know of involving growth problems.

The name endocrinologist has not been menitioned but genetic testing has.

The registrar said there "was definatley a problem".

[Groovy]

Dr Ian Ellis's Team (Genetics at Alder Hey) are brilliant. We have been under him since 2001 (when I was pregnant with Abbie).

The bendiness is probably ligamus laxity (extreme double jointedness) & nothing to worry to much over.

How old is he now? More importantly ... Is he happy in himself?

Dr's have the knack of worrying you over simple things, Benj was diagnosed with Coeliac's 4 times but it eventually came back clear.

His diagnosis (PTU) is so rare no one has heard of it other than his neurologist.
All his CT & MRI scans EEG and other test come back clear; although all his 'professionals' clearly state he has ataxia of the cerebellum, ocular albinism, unclassified extremely severe speech delay, skewed gait, ligamus laxity, left sided hemiparesis.  The only thing you can definitely see is is his vertical nystagmus and 'upgaze' and his prolonged daydream states, (vacant episodes)

He is four yrs old now with a gross development delay staid at 2.4 years ... but he is happy as a pig in muck (most of the time).

I know it easier said than done but try not to worry about it too much, what will be ... will be.

Have you asked your HV to instigate a CAF for additional support!
Are you involved in any support groups?
Do you have a good support network around you? (ie parents or friends)
Have you contacted Sefton Carers!

Most parents who are experiencing the same thing need someone to sound off at; the not knowing is more distressing.

When we are pregnant we expect the result to be a perfectly healthy baby, and as strange as it sounds - it is like a loss ... four years on I still find it helps to vent.

[mole]

Dill is 2 on the 25th, but wearing age 9m clothes. He has happy but doesnt eat well and bangs his head when frustrated. The main worry is the rate of growth he only grew 9 cm betweem 35 weeks and 21 months. He weighs aroulnd 20lb.

His speech appears to be behind as he only says about 6 words. He also walked late at 18 m and took longer than normal to stop being wobbly.

Support network well we dont have one, No family members or close friends to talk to really.

I have not contacted anyone about it, only really spoke to doctors.

[Groovy]

First thing you need is a bloody good support network around you - trust me it helps. 

Cas is the best one to advise but Parenting 2000 have a playgroup on Friday am where there are other parents of kids is additional needs.

Sefton Cares centre is also brilliant 0151 288 6060

Make use of your local Children's Centre for support they have family support workers who can direct you in the right area's.

From what you have said about him you could be entitled to claim DLA.

[mole]

Thanks for listening.

I wish I could go to the support group but I work part time. Hubby has Dillan but he finds it hard as he has a disablility himself, he only has use of one arm due to a motor bike accident.

I will try to make some time to get support but my life is so hectic anyway what with working,studying and 3 kids.


I doubt they will give me DLA it was so hard to get my hubby the lower rate care.

Did it take a long time to get a diagnosis for your son?

[Groovy]

We had problems getting people to listen to us; we were told we were "over anxious parents", but hubby's oldest son has same conditions so we knew what we were talking about.

Dr Kaye agreed to see us when he was 6 months old; she took one look at him and placed him the visually impaired register.  From there people took note of what we were saying.

My professional position has helped immensely; however gaining services from Children's Services is proving difficult.

To get DLA you must prove he needs more attention / help than a 'normal' (hate that word) child his age. 

I am welfare benefit trained; request the forms and I will help you fill them in or Sefton carers have a welfare benefits adviser who will do them ... do not attempt to do them by yourself

[mole]

Aww thanks hun


Sorry to hear that you too had such terrible problems getting people to listen.

What other services are you trying to get? My Mum is not much help to me but she works in childrens services (computer side) I could get her to ask around and look at their database for what help is availaible and how to get it.

[Groovy]

Benj likes to scream (at pericing levels so your ears bleed), he has obsessional traits and fixates on certain items if they are not to his liking or you have tried to help him you know about it as you get the screams, hitting, biting, throwing or head banging.

I have instigated a CAF for additional support (Respite) during the day for hubby & Abbie as he can be very waring on the old nerves; however we are still waiting and playing CS games of passing the buck. 

They want us to go self employed so they can give us direct payments and hire someone for his needs but I want additional nursery provision to assist with his speech and not isolate him any further.

His HV is $hite, he has not been seen since he was 18 months old ... 'cos "there are lots of professionals involved they don't want to duplicate". They have done nothing except try & persuade us to have his MMR & swine flu inoculation (NO CHANCE).

Other health professionals are great; I asked for a pram to keep him safe as he has no road sense, he keeps trying to get out or hang himself on the straps in his attempts of freedom and today we got it (it only took 4 months from fitting as it was specially made for him in Italy and cost £3,500) thank god the NHS has picked up the bill.

CAMHS are involved and tomorrow we are seeing his OT, all others (VI teacher, physio, speech therapy, RNIB mobility specialist) go into his nursery every 10 days, so he has a lot of intervention for the 2.5 hours he is there ... He usually only spends 45 mins to an hour actually in class.

His school nursery are utterly, fantastically bloody brilliant, he has a Statement of Educational Needs (everyone is amazed given his age) they have him on a 1-2-1, and nothing is too much trouble.