Karrie needs meds, tests, imaging & more!

UPDATE: As mentioned previously, we moved all fundraising to the nonprofit Help Hope Live, which medically verified me, and is a 501c3 where donations are tax deductible. I wanted the accountability, as well as peace of mind that donations would not interrupt any needed services in the future should I get them. But also: tax deductible donations! I feel it is important that my community knows the money goes where I say it does. I always posted receipts here whenever possible, but one nice at Help Hope Live is they pay directly to bills for me, or require a receipt. It's all accountable.

You can find me there at: https://helphopelive.org/campaign/15968/

I had not realized this GoFundMe wasn't shut down, so I am turning off donations now. Thank you to EVERYONE who donated, amplified, or just sent me a kind word through it all. Love you all so much. 

UPDATE:  

I finally did get my genetic test for 28 genes related to aortic aneurysms, including vEDS, Marfan, Loeys Dietz, Classical EDS and others.

My results were ... interesting!

They came back with a COL5A1 mutation (see update with photo). However, it is a variant of unknown significance, meaning: it COULD be wreaking havoc, but we just don't know yet.

When I saw the genetic counselor, she explained that I fit Hypermobile EDS much better than Classical (for example, I have only mildly stretchy skin, not extremely stretchy skin like with Classical), so they are leaving my diagnosis as hEDS for now. 

That said, they see me with a little question mark after my diagnosis. They are testing my parents for my variant, and if one of them has the same variant PLUS matches my phenotype and symptoms, it will raise an eyebrow, but not necessarily change my diagnosis--YET! Science takes time!

They also said that CTGT has never seen this variant before, but it was reported one other time in a genetic database. I looked it up, and I discovered it was reported by Invitae just last year. According to the NIH page for this database, all algorithms point to this variant being disruptive, but it hasn't been proven clinically yet. 

I experienced some bladder issues but did so well with pelvic floor physical therapy that I am discharged from it and I email the PT in a few months with an update & we go from there! Then I will resume my other PT also -- go me! (This portion of the story is updated!)

Meanwhile, we have had some disasters around the house. Our driveway was severely damaged by Polar Vortex, creating more access issues for me ... but also revealing some longstanding issues with the basement & side door + perhaps some things previous owners did not want to admit were wrong (ugh). Our roof is severely damaged and according to the inspector, she missed some things, but she is only willing to chip in a small amount, while the repair cost $5,000. (UPDATE -- we are making progress on getting the roof, at least, covered!)

My genetic test cost $1500 to CTGT + $1500 to U of Iowa hospital (yep, they really do tack on that much--my geneticist said she hates it, and I have to agree). (UPDATE I am fighting against that fee. I do not think it is ethical.)

Total: $3,000.

Even if insurance covered it, it wouldn't matter as I have not met my deductible or out of pocket. 

So I am revising this fundraiser to help me meet the cost of the genetic test, which actually may in some small way contribute to science. I have to foot the bill for my parents' tests also, which is another $200 ($100 each) out of pocket. 

I also have testing coming up at neuro-opthalmology and gastroenterology, etc. 

I was building up debt at UIHC and had $350 already on there, but luckily a nonprofit is helping with *that* portion. I have to come up with the genetic testing portion + PT. 

Later, when we finally can get to the nitty gritty home accessibility mods, we will switch over to another platform designed for exactly that sort of thing called Let Hope Live. 

Thank you, everyone! I am now going to attach an image of the genetic test (see update!) so you can see that result. When I have more to show you, I will ... I am big on accountability for fundraisers like this!

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Previous Story: 

In January of 2018, disability activist, writer, artist & ink-maker Karrie Higgins was diagnosed with Hypermobile Ehlers Danlos Syndrome after a lifetime of chronic pain, injuries, and illnesses that many doctors and friends had written off as "all in her head." 

Validation! Finally! The best part? It was at one of her childhood hospitals where doctors had labeled Karrie "hysterical." The geneticist said it was all too common a story with hEDS. But after Karrie's diagnosis with Chiari-Syringomyelia -- conditions related to EDS -- the path had been cleared for her to finally get validation for a lifetime of chronic pain, dislocations, subluxations, and related conditions. 

The path had also finally been cleared for physical therapy, occupational therapy, ring splints, heart testing, treatment for insomnia, and imaging her neurologist wants completed.

Meanwhile, the health challenges have piled up.

Last fall, Karrie suffered DVT followed by a mini-stroke.

An echocardiogram followed by a cardiac CT found abnormalities with her heart, including an aneurysm in her ascending aorta (caused by EDS) & PFO/ASD.

Doctors could find no cause for the clots. Karrie exercises daily, does not smoke, and has no known risk factors for clots except possibly Factor V Leiden, a genetic clotting disorder that some of her family members have tested positive for, or anti-phospholipid antibody syndrome (an autoimmune disease), which her PCP suspects. She has been taking blood thinners, but her insurance refuses to cover them except on the highest tier, resulting in hundreds of dollars per month in costs--even after a coupon. 

She has not been able to get prescription assistance for this medication yet due to losing most of her specialists after a network change on her insurance. 

This year, with changes to rules regarding Caring Voice assistance for insurance premiums.

This fundraiser helped pay for: 

1. medications (UPDATE: on my 2019 insurance plan, many are covered much better, at least so far!)
2. insurance premiums 
3. genetic testing for clotting disorders, one of which has been found in other family members, as well as anti-phospholipid antibody syndrome testing (Update: I found out this week that I have Protein S Deficiency.)
4. Sjogrens testing (UPDATE: This has been done-negative thank goodness!)
5. an upright brain & full spine MRI to gauge the true extent of damage from Chiari-Syringomyelia and scoliosis (UPDATE: I got the flexion/extension MRI + rotational CT & MRI; I am now diagnosed with CCI & subaxial instability and awaiting an opinion on atlanto-axial instability--see my updates on social media, however, as I got a second opinion at UIHC and I do not need surgery)
6. additional silver ring splints to stabilize her finger joints  (UPDATE: I got more splints and then had some issues with fit. Those were returned and others ordered. They are great!) 
7. occupational therapy 
8. physical therapy
9. a sleep study (UPDATE: I got the sleep study! Good news is no sleep apnea. Bad news is ... what causes this lousy sleep?)
10. a replacement tricycle  (UPDATE: It has been replaced) 

Braces and a knee scooter for recurring ankle dislocations & sprains have also been purchased. 

Thank you, everyone!