And we’re off to see the Wizard!

by Veronica on December 13, 2008

in Life

Or more correctly, the geneticists at the Hospital.

My GP who admitted straight away that he didn’t know anything about EDS – and then asked me how to spell it so he could google it – was a little hesitant to agree that I may or may not have EDS, because there is normally a family history associated with it.

That is, until my Dad* stepped in and mentioned that him and both his sisters had all had very similar symptoms as teenagers and that one of my aunts still suffers from CFS like symptoms.

All of us with no solid diagnosis. Although that may have something to do with the fact that Dad and his sisters were never taken to the doctor for any of this.

What can I say, my Gran is a bit … strange – and not in a good way.

So, once my doctor heard that there was indeed a strong family history of similar symptoms (Gran was sick as a teenager too and as an adult, although Dad says she whines so much about everything you never know what is really going on) he was more inclined to believe that EDS is a distinct possibility.

And we’re back on the medical roundabout in the hope that something shows up this time. Sigh. I have no idea how long it will take for me to get seen because as of next week all the clinics at the hospital will be taking 2-3 weeks off. My doctor isn’t hopeful for an appointment being before the baby arrives, but hey, maybe that is for the best.

I had to laugh, the doctor mentioned that ‘I would have thought that if one has EDS and is super stretchy, that child-birth wouldn’t be super easy’. He did look slightly abashed when I told him that I didn’t have a hard time birthing Amy at all. I wasn’t game to mention the fact that my Aunt had one of her babies in her own bed just as the Ambulance arrived. Yeah, we don’t have trouble birthing babies at all.

Not to mention the fact that I ended up at the physio for a pelvis that was separating and twisting about 10 weeks earlier than it should have. (Pelvis has been hurting for about a month+ now for anyone counting down the weeks and wondering why I said 10 weeks when I have only 6 weeks ish left to go).

Oh yeah, only 12 more sleeps until Christmas! Have you got it all together yet? (I don’t).

And that horrid baby widget thing that I refuse to put on my sidebar, but still occasionally check on with my due date tells me that I only have 40 more days until my due date. We’re on the count down now baby.

*Dad had an appointment at the same time, so I asked him to come in with me while I talked to the doctor. I suspected that the doctor probably wouldn’t take me seriously unless I had Dad there to mention about him and my aunts and whoa, I was correct.

Tanya December 13, 2008 at 11:02 am

like I said in my last comment, it runs in a family.

Ali December 13, 2008 at 11:15 am

Yay! I’m really glad GP was cooperative in the end.

Alis last blog post..Family: Can’t live with ’em, can’t live with ’em

KATSTUFF December 13, 2008 at 11:54 am

I actually, magically DO have it nearly all together. Tree is up, lights on the house, half the baking done and given away already, hand-made gifts 75% finished, shopping complete except for two items…

KATSTUFFs last blog post..Heartache

lceel December 13, 2008 at 12:23 pm

You have the hypermobility version of EDS. No doubt about it. I’m glad your GP was cooperative, but dismayed that he had not the confidence in himself to make a diagnosis.

lceels last blog post..On a note of sadness

Barbara December 13, 2008 at 12:40 pm

Good luck. I hope you get sorted out very soon (although yes, keep those hypermobile joints until after the baby arrives).

Barbaras last blog post..346/366 – Stripey

Hyphen Mama December 13, 2008 at 1:19 pm

It’s a sad day when a pregnant woman (so obviously not a girl) has to take her dad to the dr with her to convince the dr that what she is saying is true. Either way, I’m glad he convinced the dr you’re telling the truth.

Hyphen Mamas last blog post..Dear Mr Hyphen, Yer Gonna Laugh. Someday.

Sharon December 13, 2008 at 1:38 pm

At last a bit of action. Fingers crossed the appointment comes through soon. And, yes, it is sad that you had to have your Dad with you in order to convince the GP to begin the investigation process.

No, not quite ready for Christmas, but that’s not such a problem when little ones aren’t involved. As long as there’s plenty to eat and drink my assorted boys don’t care about the trimmings;-)

Mrs. C December 13, 2008 at 2:34 pm

OK, is it just me or does it seems NOBODY likes to listen unless there’s a man around? I mean, I get that at the car place and everywhere else. And I don’t think female physicians are necessarily any better.

I’m just glad that someone is at least listening, even if you had to bring a man in to get listened to.

OK, I’m no feminist AT ALL, but I have to call “total sexist pig” when I see it. HOPE I’m wrong. :]

Mrs. Cs last blog post..The Secret Santa.

Trish December 13, 2008 at 2:59 pm

An appointment is a good start – at least he believed you & your Dad eventuallIy.

Now would be a good time to start writing down all the family symptoms and they may even ask for a simple family tree …of who is affected /and how .

Take care now

Trishs last blog post..Marmite & Tea anyone

Jayne December 13, 2008 at 3:53 pm

Glad to hear you’re on the road – a long road but you’ve taken the first step.

Christmas….whaddya mean ? We’re still in July….aren’t we???

Jaynes last blog post..Trivial History December 13

Just a mom December 13, 2008 at 3:56 pm

WOW 40 DAYS… glad to did take yoru dad it seems that doctors NEVER LISTEN TO US,,,WHY IS THAT???? I was sick for years but really sick for a year and a half untill SOMEONE FINELY TOOK A LOOK AT MY PROBLEM and that was due to a totaly different reason. I am not sure about book smart people even doctors… have a good weekend and take a nap.

Taz December 13, 2008 at 5:58 pm

best of luck hun

40 days isnt that far away

yeh i know xmas isnt that far away

Jeanette December 13, 2008 at 6:49 pm

wow only 40 days!!
Hope you get diagnosed correctly!

river December 13, 2008 at 9:20 pm

Gee, I wish I had someone to come along to the doctor and say Look, this constant aching of muscles and joints has been going on for years, why don’t you believe her? I go with pain they say go home and rest, take panadol….hmpf!
Back to you, I’m glad your doctor has made appointments for you. But what can be done? Is there some treatment to minimise the problem? With all my heart I hope Amy and the baby don’t develop this.

badness jones December 13, 2008 at 11:45 pm

Hugs! I’m glad your doctor took you seriously, but I’m sorry that he needed your Dad’s input to do it!

And no. Not ready for Christmas. I’m goint to pick up all the baking things I need today, and maybe start some baking with the Princess. And we’re going to see the Panto (Cinderella) tomorrow.

badness joness last blog post..Overheard at breakfast…

Bendy Girl December 13, 2008 at 11:50 pm

I’m glad to hear you have a referral, although you may still want to consider rheumatology if genetics are not as helpful as they may be. I’ve known many people go on to have a diagnosis of EDS or HMS made by an international expert who’d previously been told there was categorically no way they had it by a geneticist.
It may be helpful to make a family medical history, just a sketch of your family tree and any health problems reported or not for each family member listed. EDS and HMS can be spontaneously occurring conditions, but more usually there is a lot of family history which has never been put together. Eg in my own family it is on both maternal and paternal sides, but in much milder form than I have. None of the family members are willing to accept that though and attempt to rationalise everything away which is also sadly not unusual.
One other thing that may be helpful is to provide some medical information for your GP and to take along to the referral. In my experience those doctors who are comfortable telling you they don’t know anything about EDS tend to be the best to work with, the confidence to admit they don’t know anything means they’re usually happy to find out. If you happen to see a doc who insists they know all about EDS but clearly doesn’t…run screaming!
I’m with Lou on this, from everything you’ve said (and the strong family history) I’d think you probably fit into the HEDS category. Do you have ‘tricks’ like David does? Before I was diagnosed I had no clue I was hypermobile, double jointed or anything like that, mainly because I’d always been told I was ‘normal’ but also because my family are affected and in such situations the ‘abnormal’ is normal.
Whatever happens next I’m very glad your GP was at least willing to refer you and hope you find your answers soon. Love BG x

Megan December 14, 2008 at 1:02 am

Glad to hear some action is being taken.

Megans last blog post..Christmas

Ree December 14, 2008 at 1:26 am

At least there’s some flicker of agreement there. And as for the birthing baby crack, having given birth, I would think that being super bendy and flexible would make childbirth EASIER, not HARDER. So there you go.

Rees last blog post..The Method™

julie December 14, 2008 at 10:20 am

I much prefer it when a doctor admits he doesn’t know about something…and it seems reasonable to question whether EDS is a possibility when it has such a strong genetic component.

What really matters is that he sent you on for further testing.

julies last blog post..My auto’s warranty has expired!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!

kompostela December 15, 2008 at 12:55 am

Oh, do you see every bad thing has it’s good points:) You’ll don’t have problems with giving to birth your baby:))
But I still can’t understand what they do if the problem with genes…

kompostelas last blog post..My Toddler Painted Tulip

Xbox4NappyRash December 16, 2008 at 4:40 am

Good luck with it.

We don’t have enough posts with big Daddy in them here!

Xbox4NappyRashs last blog post..Two little ducks

Cat December 16, 2008 at 4:58 am

What is with doctors googling stuff these days? Have they given up all efforts to appear as if they know what the hell they are doing? I am losing the faith.

Cats last blog post..It’s Beginning To Look A Lot Like My Eyes Are Frozen Shut

Laura McIntyre December 16, 2008 at 7:35 am

I have no clue about the disorder but hope you get to the bottom of it all.

Cannot believe you are so close now, hope its going as quickly for you

Laura McIntyres last blog post..Naughts and Crosses

tiff December 16, 2008 at 8:25 am

Well, there is just so much I could say.
I could mention what I think about doctors who don’t listen and don’t take you seriously unless there is a big tough man in the room, I could talk about the doctors pulling their fingers out of their backsides and finally doing something for you.

I could mention how long it took anyone to listen to me when I started diagnosing Ivy myself.

You already know about all of that though so instead I will send big hugs and hopes that somebody will be amazing and things will go smoothly and you will have proper answers soon.

tiffs last blog post..For Sale.

Talina December 16, 2008 at 1:10 pm

Well it is good that you have some info about what could possibly be going on with you joints and muscles. That is one step in the right direction but it stinks that it is all such a pain in the butt.

I am having some consistant lower back hip bone aches and have been thinking about how the hips separate and shift. Your post helps me understand it all a bit better. Does the pelvis separate int he front or back when it widens?

I still can’t wait till you have the baby! Hope you are feeling better hun.

Talinas last blog post..Perfect pie crust and old school Nintendo.

Farrah December 16, 2008 at 1:39 pm

Thanks Veronica for the comment..I hope you don’t mind I added your blog to my side bar so I could follow you through your journey’s.
I love reading your post.

And good luck at the Dr.

Farrahs last blog post..I don’t know how to stay caught up…..

Suzie December 17, 2008 at 5:04 am

hang in there its almost over

Suzies last blog post..Hi Im Cindy

Colleen - Mommy Always Wins December 17, 2008 at 6:33 am

Oy. Hope you can get a diagnosis *sometime*. I’m sure it would just be nice to hear its not all in your head!

Colleen – Mommy Always Winss last blog post..Unprecedented

C December 17, 2008 at 3:58 pm

Wow! Just catching up on your posts! I have been such a bad blog friend! I HAVE been thinking of you daily though…and wondering how you and baby #2 are doing! At least you are almost there! I remember when you were reassuring me that our babies would be born at term or close to it! I am thrilled that you have hung on for a long time! I cannot believe my Little One arrived 12 weeks early!

I have so much catching up to do with you! I may just have to e-mail you…and spare your readers from having to sit through a terribly long comment here! 😉

Catch ya later! XO

Cs last blog post..Visions of Sugar Plums

Taz December 18, 2008 at 3:52 am

hey hun

just checking in and hoping your ok..

Tazs last blog post..Summer fun and siblings.. 🙂

Burgh Baby December 19, 2008 at 3:12 am

It’s been a while since you’ve updated, so I just thought I would say “Hi” and tell you that I hope all is well.

Burgh Babys last blog post..The Toddler and The Big Guy, Round 3

Momisodes December 19, 2008 at 9:12 am

I’m just now getting a chance to catch up on everything. I hope everything gets sorted out soon.

Momisodess last blog post..C is for Cookie…or Crap

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