wow- genetics referals, pediatricians, and more. WARNING long

so the back story.. i've been emailing and talking on the phone back and forth between Toledo hospital and Cleveland University Hospital, trying to find someone to see me for a clinical evaluation for the possibility of EDS (Ehlers Danlos Syndrome).

* I've been finding that there are a lot of things physically, mentally, psychologically about my family (immediate, extended, etc) that are not normal and seemed to be passed on from generation to generation. THEREFORE being genetic, that need to be addressed. *

So I finally got to talk to someone at the Toledo Hospital about seeing a genetic counselor, and she knew "about" EDS, but didn't know specifics because she herself isn't in genetic medicine, but she was trying to help me find someone who DOES know these things so we can get the ball rolling. She decided to help me go a different route and get my KIDS (the two that show symptoms of EDS) into the genetics lab for clinical evaluation. OMGOSH smart lady. :) 

So she put her cell phone down (that's how I was talking to her) because she didn't know how to put it on hold ;) and made a phone call that I could hear a lot of and they were asking her questions as well.. she confirmed information that I had given her to this other person, and was asked things that I hadn't brought up yet about the possibility of cEDS (classical EDS- more skin involvement) which I don't have as much of, so I said no. 

Basically this whole conversation/chain of events helped me totally validate everything I've been looking to accomplish with my family's health. 

Unfortunately they can't see adults right now, they don't have a large enough medical staff for that, they used to and then some of the dr's left. 

But the lady who does the scheduling is back this week and the woman I talked to sent the scheduler an email explaining the situation. She also said that normally they only schedule 1 sibling at a time, but because of our situation and I think our location, she wants to schedule BOTH of my girls the same day. 

She said if I could get a referral from their dr, that would be great. The more paper trail, the better. Especially in situations like this. 

.....

On to today.. 

My two younger daughters had their physicals today (I had written and note prior to this appt on one of their accounts that I had a suspicion of EDS for them) and the physicals went really well. The nurse at this appt saw that there was a pending diagnosis on our account. She was great with that. 

The youngest spoke up about having more problems with her acid reflux (I asked her about her tummy pains, and the dr looked at me and said "she just mentioned her reflux", and my brain said "um thanks, but i'm talking about her tummy pain she's had for weeks now, that Tums hasn't helped, and Pepto Bismol has a little, maybe she's having problems with constipation. she doesn't poop very often"). My other daughter he did a hyper mobility test on her hands and legs, and I brought up my concern about her also being an EDS candidate. (We have discussed this before with my oldest daughter, he knew I didn't have a diagnosis yet. At that point, I was just glad he'd heard of it and that he knew it was autosomal dominant.) 

Today he asked me who in the family has a diagnosis of this.. nobody does yet. He looked shocked and said something about "I thought you had a diagnosis". Umm.. no? We've been over this. He asked who else in the family shows signs of this.. my sister, her kids, my dad, all the men on his side of the family.. myself and two of my daughters. 

He asked about what things I've noticed in myself and my daughters.. I rambled off a few of them, because the notebook I was going to bring with me, I left at home. (darn brain!) 

He said "those symptoms don't necessarily point to EDS. I can give you the referral but for things like PT if she keeps hurting her ankle, those are things I can refer her for." After he had asked me about why I would want a referral to genetics, what am I looking for as an outcome of that? (being able to help them figure out how to live their lives better, referrals for joint pain, referrals for PT, knowing that we aren't crazy). Even though he knows and he SAID "there's nothing we can do to reverse or alleviate this condition". Fine.. but I want to know how I can help them and if I know what i'm dealing with.. the better. 

Near the end it get pretty intense, just me telling him all the referrals and specialists that I have, and how if nobody is going to help any of us get a diagnosis.. I'm stuck. We are stuck. With these bodies that don't work right on the inside and look fine on the outside. 

It was pretty quiet there for the last 5 minutes while he madly typed on the computer looking frustrated while I sat there with my nerves on end, holding back the tears that threatened behind my eyes. 

Eventually he stood up, said "ok, we're done" and nonchalantly, possibly frustratedly ;) left the room with the door open for us to leave. Didn't even come out to give the girls their suckers.

Maybe he was annoyed that I grew a backbone and decided to advocate for my family after all the years of being there, being the "supportive, happy mom"? 

As we were checking out, the receptionist informed me that my oldest daughters referral for rheumatology was denied because there is no prior mention of joint pain at the dr's office. So doc would need to see her and talk to her about her joint pain so the referral for that can go through. 

The sleep study for my middle daughter has been put through, i'm waiting on University of Michigan to call me to set up the appt. I shouldn't have to call them. 

And I got genetics referrals! BOOM! 

I just need to call the office back with the phone number and fax number for Toledo Hospital Genetics so she can confirm and send. 

YES! 

I'm gonna go ahead and call the genetics clinic to talk to the lady about the email and set up the appts and then have Kelly call her and send the referrals. :) 

FINALLY! We're getting somewhere! 

...

I just got them scheduled for their genetics appointments.. 

Need to get Jazmine in to the dr. for her rheumatology referral and genetics referral.

So I have to go back to the dr's office next week for her to talk to him about her joint pain and will bring her list of symptoms so hopefully I don't have to bite his head off again. :P
....
Even my middle daughter was talking to me about it in the car, how with all my research, I've figured out that I have this condition, she didn't know it was rare, because it's normal to hear about in our home. And she's all like "well, dr's should listen and they should want to help more and know more". Right on, girlfriend. *fist bump