My Diagnosis Story

[kiwibird27]

Hi everyone, here is the link to my diagnosis story, If your interested!!!

http://www.cdgs.com/_storymeg.html


Hope everyone is doing well!!!!

[draught]

Thank you for sharing with us - your little girl is a battler isn't she?! And quite gorgeous! I will be thinking of you and hope things continue to improve.

[reAllytee]

Stacey as ive said before your an incredibly strong lady & so is your little girl.
I wish you all the best & again as ive said before if you need anything just say :hugs:

[mummyof5]

Thank you for sharing your story with us.
Megan is just gorgeous, and here's hoping she continues to improve.:fingerscrossed:

[~Chick79~]

Aww Stacey :hugs: That must have been so hard to write let alone live through that for the last few months! I really do admire the strength you have shown and of course the strength that Megan has shown - she would have needed every little bit to get through what she has!

Like you said, you don't know what the future holds for your little girl (or you and your DH for that matter) but I certainly do pray that she only continues to thrieve and grow into a normal happy little girl!

[cheezelkat]

Thanyou for sharing your story :hugs:

I hope things only gt better for you guys. :fingerscrossed:

[Jacks Mummy]

I have to ask but what is cdg? She looks beutiful and like she is going to be full on when she finds her feet. That smile is a killer.

[kiwibird27]

Congenital Disorder of Glycosalation, she's missing an enzyme that links the sugars to proteins. The info web site is www.cdgs.com

[bekkyboo]

Hun!!!! Im glad to see you back... Us Juney mums have missed you.

Glad to see she is doing better...

:hugs:

[Jacks Mummy]

Ok I am following you now. How rare is this genetic disorder?? I know there is a little girl in my sons childcare that has attached herself to my special little boy and she is fed with a tube as well and is so tiny, ds just towers over her. I think one of the teachers said she has a metabolic problem or something along those lines I shall have to ask again. Her mum and I have gravitated towards each other due to the kids being different from the norm. Its cute to watch her look after ds, they have developed a great little bond together. He gets the giggles up when I tell him hes going to see his girlfriend and say her name. He looks for her to which is a great sign for my son.

I hope she improves and I hope you get lots of help and if you dont, then demand the help.

[kiwibird27]

She is in number 8 in Australia, It's also a metabolic problem, but there are lots of different rare metabolic issues. She's missing an enzyme that links sugars to proteins, so they are misshapen, affecting ever part opf her. But the body is an amazing think it can adjust to a certain degree.
I just wish they would get on with gene therapy research, If they could replace that enzyme my daughter would be normal.

We are pretty lucky with our treatment and follow up - all her specialists are just a phone call away and they always make time 4 us!!!! Randwick Children's Hospital in Sydney is fantastic!!!!

Great to hear about your son, what makes him different ??? Sorry evryone must ask you that!!!

[Jacks Mummy]

He has a rare chromosome deletion. Global delayed development, no speech ( bar a few words that are inaudible). The list can go on and things with him can develop. The worst part is the lack of help that we get because he doesnt fall into the normal disabillities. Its annoying but we have got good doctors now and they monitor him and he has speech therapy etc. But its the not knowing what his life is going to be. The problem is that the kids with any form of this deletion or problem have such a broad range of problems that no two are alike and the vast majority are not old enough to gage what he may turn out like. Alot was not known about this chromosome or the problems up until a few years ago because the chromosome had not been mapped. So there could well be cases out there that we do not know about. so in the end you feel like your swimming alone. Sounds bad but its not that bad in a way.

[kiwibird27]

Sounds like your talking about my daughter!!! Same thing - no one has any idea, and the symptoms are so varied it's impossible to tell what the future holds. She's also too young to see any developmental delay etc yet, so far she appears normal. Her biggest issues are feeding issues, liver disease, coagulation issues and protein losing enthropy. All which seem to b improving with age!!!

We saw the surgeon a week ago and have discussed gastrostomies, a port for easy vein acces (she's hard to get a drip in) , an a fundo to stop the vomitting - he basically told us he would follow our lead on what she needs cause he had no idea!!!!

I guess now I know there is a diferent kind of "NORMAL" life now, and at this stage it's not looking too bad!!! Although it involves weekly admissions to hospital, Got to keep smiling - our kids don't have another advocate!!!

Is your son's issue genetic, sporatic, or unknown??? Can u have more kids???

[OscarTheGrouch]

Thanks for sharing your story. Your little family has sure had a lot to cope with.:hugs: What a beautiful little girl she is. Best of luck with everything.:fingerscrossed:

[nessyd]

Thankyou for sharing your story You really are an amazing mum and have a really cute daughter. People dont understand sometimes how you arent necessarily tough when we get thrown into these things but you end up learning alot about how strong we can actually be. Maybe our daughters learn this from us, you never know how much they actually understand from birth! Hang in there, soon she will learn to talk and walk, its funny when a child tells a nurse "no naughty" when shes trying to take a blood test. Best wishes I hope all goes well for you and your little princess:wizard: