Monday, May 7, 2018

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

Tuesday, April 17, 2018

The blue truck and the squirrel

The littlest things in life can be the biggest things to others. 

I was driving to work today and was behind a blue pickup.. and there was a squirrel. Dear little thing hopped out into the road and i'm gritting my teeth hoping it makes it across. Then I saw the brake lights.. the blue truck slowed down. 

And i literally said out loud in my car "thank you for doing that". 
The little squirrel hopped back to the side of the road it came from, it's life was saved. 

Because i'm not the only one who values the life of the littlest creatures. 

I don't know who was driving that truck, whether they were in a hurry, where they were going.. none of that. 
But it mattered to that squirrel. 

Monday, April 16, 2018

more on my referral for EDS diagnosis

well i had a referral for EDS diagnosis last year, i had it sent to University of Michigan genetics, and they denied me because the "hyper mobility type of EDS is a clinical diagnosis and not important enough to be seen at our facility".

ok so it didn't EXACTLY say that, but that was the gist of it.
and they didn't send me a copy of this, i actually called and asked for a copy to be mailed to me.
on the letter, it actually told the Dr that i had not been sent a copy of this.
so really they left it up to him to tell me that they had denied me.

like they aren't grown up enough to tell me themselves.
ugh.

....
so now, April 2018, i've met three other zebras (1 through my MI support group, 1 through a friend who was like "hey, i have another fried with EDS!", and 1 through another support group.)

the closest one told me to talk to Toledo hospital about a referral for diagnosis, and Toledo hospital sent me to Cleveland University- University Hospital (because these are the dr's that come to Toledo twice a week, but they only look at children when they are there).

so i left them a message last week about being seen for EDS.
waiting to hear back.
i will most likely call them on Thursday (give them a week to get back with me).

There is also an EDS specialist there, Dr. Mitchell. The wait list for her is 18 months. If I can't get in to be seen by one of the mobile EDS dr's, you're darn right I will be scheduling with her. I don't mind waiting. That's what I do.lol. (as long as my insurance is still in effect by then) *eye roll

cloth pads vs paper pads- WARNING i talk about blood ;)


ugh. 
lol

I have been using cloth pads since my youngest daughter was born and she is 9.5

this last month during my cycle i had to *gasp* buy and use disposable, or as i dub them "paper", pads because my stash of cloth is worn out, leaking, and needing to badly be replaced. 
*I've been working on making a whole new stash for myself for 4 months now but because of my chronic illness, being a busy mom, working a part time job, trying to keep our schedules from being overcrowded, etc life as a family of 5, and keeping the house partially clean, i haven't been able to spend the time really plugging along at this project. 

so i had to spend a week with paper pads. 
oh
my
gosh.

never again, if i can help it. 

this month i made sure prioritize my new cloth stash and literally finished it 2 days before i needed it. 
*talk about timing. 

my daughters all have their own cloth teen stash as well for when they start. 
even though only my oldest is close enough to have this happen, i want to be prepared and make sure i've covered all my bases, because i can't put myself in that situation again with my failing health. 

so.. 
i hate paper pads. 
i don't feel like i have nothing protecting me.
they are not soft.
i cannot move them back and forth once they are secured in my undies. because they are sticky. 
they are sticky.
i throw them out when i am done with them. i don't like throwing things out. 
i can't tell how much i'm bleeding, because it's all absorbed inside the paper/cotton. 
one of them left sticky paper on my undies that, even after washing them, still will not come off. :( unhappy. 

i can't use tampons anymore since having my babies, they just don't fit right. 
and i'm totally completely ok with that. 

i like knowing what my body is doing.. on it's own. 
how much i bleed. 
how heavy, constancy, when i naturally stop bleeding.. 
i say that because using paper products can actually make you bleed more, cramp more.. just suck the life out of you more. 

never going back to paper again. 

ALSO 
if you would like information on where to BUY said cloth pads, PLEASE ASK! 
OR
shop on Etsy.com :D 
since i'm not able to keep up with making pads for other people, i am more than happy to point you in the right direction!

Food for thought "someone always has it worse than you"

This happened to me a week or so ago. (I've heard it quite often)
I've actually told myself this before, but i'm learning that it's not healthy to do that, because then you actually invalidate yourself.. and that's not ok. You are valid.

Someone had been talking about a certain physical ailment and it was something that I personally deal with, so i told them a little bit about my health as well.
And then came the line "I guess it could help to remember that (dun dun dun) someone always has it worse."

SOMEONE ALWAYS HAS IT WORSE

I have a love/hate relationship with this statement.

I understand that the person saying it is trying to be helpful, they're trying to make the person in distress feel better or to look differently upon the situation, feel more empathy.. but I also understand that a dismissive statement.

The person on the receiving end of this feels belittled, feels like what they're going through isn't important, like their distress doesn't matter. It doesn't give that person space to feel like what they're going through is valid.
It belittles their problems and their frustrations, also making them realize that this person that they just opened up to isn't going to be helpful to them in this area of their life. Just another way for them to close themselves off from others.
The thought process being "I opened myself to this person who I thought would understand and they made me feel unimportant, and it hurts".

I know because, as I said before, this happened/happens to me. I'm one of them.

Yes, it is true, that there is generally always another person somewhere who is going through something harder or hurting more.

But for the person who is trying to reach out to have somebody say "I'm sorry you're going through this" can feel like they weren't listened to, their feelings don't matter, and that what's happening to them isn't that important.

Food for thought. Bet careful when you say things like this.
And if you're on the other end, the person listening to someone in distress, instead of saying something like this quote, or if you feel awkward or don't know what to say, that's ok. You don't have to respond. OR If you feel like you must say something, a simple "I'm sorry you're going through this" or just "I'm sorry" is HUGE.
Sometimes people just want another person to listen to them. Just to say "You know what, i'm struggling right now. Please just be in this moment with me and help lift me up. Don't put me down, i'm already low".

Monday, April 9, 2018

more body stuff.. MCAS, POTS, and other things.


So I have a cardiologist now. 
And have worn a heart monitor, had an EKG twice, CT scan, MRI of my brain. 
(palpitations, vasovagal syncope, neurocardiogenic syncope and POTS) 

I have a neurologist now. 
Have tried two medications now that aren't helping my migraines. I have a follow up on that tomorrow. 

I have been diagnosed by my PCP with thoracic outlet syndrome, hypermobility, myopia, fibromyalgia (so we can work on pain management), pelvic floor dysfunction, scapular dyskenesis, myalgia, unspecified fatigue, polyarthralgia, chronic musculoskeletal pain. 


I have an allergist appt on May 1. I feel like i have MCAS (mast cell activation syndrome). Would explain so many other things, like allergic reactions (the ready i have so many pimples/rashes, feeling flushed), having canker sores constantly my whole life, bladder weakness, the problems with my gut.. 
Oh I can't wait to see what he says.

....

I love that i'm getting somewhere and learning more about this crazy body of mine! 

All of this within a year! 
Just keep pushing, Cami. 
Make the phone call. 
Send the email. 

Get er Done! 

Hoops for Genetics


So I started off doing a free genetics study through Facebook called Genes for Good. This was mostly to find out my nationality, etc. 
But i'm wondering if there's something in the raw data that points to health genetics as well. 

In the meantime I've gotten a genetics referral from my Dr and had it sent to University of Michigan, who denied me based on the hEDS suggestion from my Dr. (Hypermobile Ehlers-Danlos Syndrome). I guess it's not as important a type of EDS for them to even do a clinical diagnoses. 

Recently I have looked around at other hospitals to do Genetics testing, and emailed Toledo Promedica about genetics testing. 
I received an email telling me who to call about setting up an appointment. 

I was bounced back and forth a bit between Toledo and University Hospital in Westlake, OH. 

But it looks like my genetics counseling will come from Cleveland University- University Hospital in Westlake, OH. 
I'm waiting to hear back from the voicemail I left them (just now). 

Also, going to download my raw data from the U of M genetics Facebook study and have it read by a genetics website to see what else I can find on my own. :)