Eventful Day

Today I had my BXS (bone density scan) at invision and it was uneventful apart from running 45 minutes late and almost getting run over by a short lady on her cell phone determined to beat us out of the elevator. We went to CPK for lunch with plans to hit Barnes and Nobles and get Mom's blood drawn after lunch, this was foiled by a car that wouldn't start...at all...just made a clicking noise in the glovebox region. So an hour and a phone call to AAA later a tow truck showed up driven by a very happy dirty long haired man with slightly slurred speach and a rather stoned expression on his face. He also only had one seat belt in the cab besides his own (we were supposed to ride back to town with him) not to mention that to get in one practically had to climb a ladder with the rungs impossibly far appart. We decided to hoof it to the mall and hit the Borders there and wait for Dad to get off work and come get us. By the time we got to the door of the mall I was ready to fall over, and by Borders I was struggling to put one foot in front of the other. Dad got off 2 hours early so he could get us thankfully and we escaped in one peice (mostly) with new books!

Looking back on 2009

January began the GI bleeding issues to which we still have no answers

February a new round of MRI's and other GI tests

March and ER trip and pneumonia

April is when Dr. Soden (GI) came into our lives and brought Dr. Ellias(GI), I had a skin biopsy and more abdominal CT's and ultrasounds

May I had my first colonoscopy and second skin biopsy (because the first wouldn't grow out which they had only seen one other time in 14 years), the surgeon freaked out and ended up not really doing it because she was afraid of tearing something

June I had my final period and started the process of getting my power chair, we also scheduled a date to get the screws removed from my hip

July the screws were removed from my hip and what was supposed to be a simple outpatient procedure turned into a week in patient for pain control; while I was inpatient I also had a capsule endoscopy which never left my stomach and finally started moving the day before it was scheduled to be surgically removed. During this month I began having worse nausea and began having to take nausea and pain meds around the clock and had a bad UTI.

August brought breast milk and more nausea and no period

September a colonoscopy and endoscopy with a capsule endoscopy placed, another UTI my power chair came in and made my life

October was filled with general feeling like crap, the questions of seizures, and a diagnosis of adrenal insufficiency

November was more ugh with a negative EEG and a switch to hydrocortisone from predinisone I was finally able to decrease my opana from every 4 hours to every 6

December was/is super crappy with doctors shrugging and not really caring or knowing what to do, I tried to decrease my zofran from every 6 hours to every 8 (still keeping phenergan every 6) and was retching constantly went back to every 6 (at the same time as the phenergan every 6) still wasn't enough, I had to shift it back to in betweeen predinisone doeses.

Running out

I saw the GI on Wednesday and he was unhappy with my progress (or lack there of) and doesn't know of anything more he can do for my nausea. I have vomited three times in the last week at school so what we are doing now is clearly not working. He is frustrated with my endo and primary care because it is obvious that there is something more than just the AI going on, but they don't seem to be that concerned. He tried to play the depression card and when confronted about it he said that when doctors don't know what something is then its time to blame it on some sort of mental illness (we already know that they try this and they have been majorly wrong more times than I care to count). He then said that I have enough physical symptoms that it probalby isn't depression (after we offered to give him my therapist's name who would happily chew him out for suggesting it again) since it wouldn't cause me to have low estrogen prolactin and an abnormal brain MRI.

He suggested that our next step is to try some place out of state. His preference was Mayo clinic,but seeing as our insurance won't cover it we are out of luck. Cleveland clinic isn't covered there either, but I'm not sure I would want to go back after my experience with the senile Dr. Stanton-Hicks all those years ago. He called the day after my appointment because he couldn't sleep the night before 'cause he was worried about me. He called my geneticist and talked with her about going out of state and is planning on comming to my genetics appointment later this month so that we can get a plan together. I don't think she is as on-board as my GI and thinks my problems aren't real because I didn't have a seizure in the 15 minutes I was alseep for my EEG. In fact she didn't even realize I had the bladder pressure tests and that they showed that my bladder is basically just a giant bag. So she kind of sucks.

The wound clinic appointment on Wednesday was unpleasant. You put on EMLA cream an hour before and cover it with tegaderm so that it is nice and numb for the debreidment. Unfortunately local anesthetics don't really work on EDS'ers and he didn't particulary beleive me, that is until he was slicing open my already sore and inflamed incision and I was clearly feeling every scalpel slice. Then it was packed with collagen to provide a foundation for it to heal and covered with a silicone dressing. Hopefully I won't prove allergic to this dressing-I have already proved to be allergic to the 100% silicone foley catheters and by allergic I mean giant blisters inside and out-he insisted that it had to be some sort of coating that I reacted to and that this would be fine. We will wait and see, hopefully I won't end up with a bigger problem than I started with.

Grr

We finally found someone who actually cares about my quality of life. On Wednesday I saw a new rheumatologist who doesn't think that it is okay that I don't have energy to socialize or go to school full time or always hurt and feel like crap. He thinks that there should be something that encompasses all my issues not 5 million diagnosis; that chronic pain is bad and should be treated (not labeled as fibro and told to exercise and that it doesn't really exist); that prednisone is a quality of life drug and I should be allowed to have as much of it as I need to be comfortable; and that we should be worried about protecting my joints instead of waiting until they get bad enough to warrent surgical intervention. He is going to do research and talk to my other doctors, all in all we finally have someone who gives a damn about my quality of life.

Yesterday I had an EEG at Childrens and was forced to get only 4 hours of sleep the night before which meant going to bed at midnight and getting up at 4. I was surprised at how easy it was to get up in the morning and stay awake and fairly entertained until it was time to go to school. There was some sort of convention going on at the hospital, so all of the parking was taken by non-patients and all the patients had to use valet. So Mom dropped me off at the curb and went off to find a space while I got checked in. When I told them my name and appointment time they asked if "she(the patient) was with me" and were quite stunned when I said it was me. When they called me back the technologist seemed to want Mom to accompany me, but I declined. She treated me like a two-year old at first (which is weird because that usually doesn't happen at Children's) and ended every sentence with dear or sweety. She asked about my AFO's and I replied that I have EDS and she gave me a funny look, but didn't ask what is was or say anything about it.

As we progressed she started to treat me a little more like an adult and then proceded to complain about the arthritis in her back, how she got inflamation from the anti-inflamitories and couldn't take them any more, and then they gave her vicodin for it. She just rambled on and on about it and how much it sucks to be old and poor her and her arthritis. I really wanted to say, so what all my joints hurt all the time and will ALL have arthritis before I hit my thirties. It is ridiculously unprofessional to be compaining about your arthritis to kids who are in for EEGs and all the other stuff they see at Children's.

Waiting

Increased prednisone, trying to decrease back down to management dose, still flaring time to try a different steroid.

Hip injected Friday, lots of scar tissue made it difficult, still waiting for it to kick in.

EEG Friday, have to go to bed at midnight and wake up at 4 then stay awake till appointment at 2:30.

Infections, test results, and lab canceled tests

After feeling lousy all week I finally realized about 5pm on Sunday that I had a bladder infection so we headed off to the urgent care and got a script for an antibiotic. It seems like I have the wrong antibiotic since it isn't getting better as fast as would be appreciated. The culture came back yesterday and it is the right one, the staphf proved susceptible to cipro. Some of my endocrine tests came back and my estrogen and a few others are super low, which indicates a pituitary tumor. The lab canceled one test because there wasn't enough blood but didn't tell my doctor for three weeks, so we have to get that redrawn and wait for the results before we do the MRI to look for a tumor. She is also checking me for congenital adrenal hyperplasia because it could be accounting for my nausea, so on Monday I will be having a cortisone stimulationtest at sweedish. My MRI of my hip finally came back and I have inflamation in the miniscus and acetabular tendon, which is something that we can't really do anything about.

Next Week:
Monday Cortisone stimulaton test 4 hours and blood work
Tuesday: Lumbar MRI and urologist
Wednesday: Hip surgeon and dentist

Different Doctors Different Opinions

I saw my urologist at Childrens last Thursday and as a result we decided to stick with him until I have to transfer out of the system. He thinks that all the test the other guy wanted to do are unnecessary because they won't change what we are doing now and will likely just cause more problems. Because of my increased UTI's he wants me cathing twice a day which sucks, but eventually might get me off detrol and valium.

We got the letter Dr. Elias sent to my PCP and she said that my hip is healed and that I have keiloid scars and that the scars on my arms (which are definately the typical cigarette paper scars of EDS) look like psoriasis. Plus she said that I most likely have a very mild case of EDS, yeah right! Clearly she hasn't read my PT or OT notes or remembered my physical exams. I score a 8 on the beighton scale and I have sores that haven't healed yet after years! I see another specialist in that clinic today that specializes in transfering kids out of the Children's system so we will see what she has to say about that. I may end up going to Baltimore to see Dr. Francomono after all since no one here really knows what to do.

Doctors Galore

Last week I saw a new hip surgeon at porter hospital and an endocrinologist at Swedish. The hip surgeon was okay, he ordered an MRI which was on Monday after school to check for avascular necrosis, which basically means there is no blood flow to the femoral head and it dies which requires a total hip replacement which is definitely something that we don't want happening. The endocrinologist was amazing she was very intelligent and good at explaining thing and excited to help me out and learn about EDS along the way. The first thing she said to me after introducing herself was, "Do you really have Ehlers Danlos Syndrome!?!!". She is concerned about my lack of a period for three months and the lactation slowed hair growth sweating and acne and ordered several blood tests. She suspects either a pituitary tumor, congenital adrenal hyperplasia (a genetic disease which my cousin has), or early menopause among other things.

Monday I saw a new urologist at littleton hospital, he was also fairly knowledgeable and has one other patient with EDS. However he was a little condescending-and 2 hours late- and his PA treated me like a two year old, they want me drinking 2 litres a day and peeing every 2 hours. To check my emptying I was sent to the bathroom and instructed to pee, the instant that I pulled my panties down it ripped of some of the healing skin on my hip that stuck to my undies and started gushing. It soaked through my undies and two gauze pads that the PA put on it-on the plus side that office will never underestimate my healing issues after that demonstration. She scanned my bladder after my unsuccessful attempts and I had over 300cc and no sensation, most people are doing the potty dance at that point where as I usually don't feel anything until about a litre. Because of this I am high risk for infections so I got put on their infection protocal/program.

We ran from that appointment to an emergency appointment with Dr. Sodden my amazing GI at Children's and got a flat tire on 225 along the way (luckily we pulled off into the Aurora medical center parking lot and a few maintenance workers spotted us and had the tire changed in 5 minutes). He took an amazing amount of time with us and decided that for now the blood is nothing major to worry about and that we will just keep an eye on my blood counts to make sure I am not getting anemic. The reason the appointment was an emergency is that I have been having episodes of incontinence at night and a few times when Mom wakes me up for meds, have been confused and clumsy/unable to use my hands correctly. He thinks I might have a teathered cord, a chiari malformation, or some other sort of nerve problem (as does the urologist), or that I might be having seizures.

Today I saw Dr. Ellias the geneticist/specialty care and found out that my biopsy was negative for EDS IV which is a good thing and that she still isn't exactly sure what I have because I don't exactly fit any type of EDS, but that for simplicity's sake we will call it EDS. She agrees that seizures are a definate possibility and will follow up in three months. Tomorrow I see Dr. Wilcox my urologist at children's to see what he has to say. I will be having my cystoscopy at Children's with him even if I choose to go with the other practice because I feel much safer at Children's than anywhere else. Next week I see someone at Children's who can be my primary care for a few more years and specialized on transfering complicated kids out of the pediatric system. I also see Kelly (my counselor of 5 years) and the opthamologist in the next few weeks.

Possible New Diagnosis:
Avascular necrosis
Early menopause
Pituitary tumor
congenital adrenal hyperplasia
Teathered cord
chiari malformation
Unconnected/severed nerves
Epilepsy/seizures

Test:
Cystoscopy(done under general anesthesia)
urodynamics/pressure testing
MRI of spine
MRI of pituitary
MRI of hip (done)
EEG

Still No Answers

We finally received the results from my endoscopy, colonoscopy, and capsule endoscopy and the answer is that there really isn't one. They saw a small bubble/pouch in my small intestine, but that doesn't account for the blood or the nausea. The fissure that they saw last time and tried to blame is gone, but for lack of any other ideas he is still blaming it on the non-existent fissure. I have a meckle scan Monday but the radiologist said that it is a shot in the dark and pretty much a useless test because nothing is wrong (she did my bone scans in the past and thinks that everything is in my head even though we have difinative proof that it isn't) so we are off to the endocrinologist in hopes that my hormones are causing my nausea in addition to my missing periods and lactation. I need an MRI of my spine and hip to check for a tethered cord that may be contributing to my problems. We are getting a second oppionion from a hip surgeion that specializes cleaning up after other surgeons, I am also seeing another urologist that has a clue and unfortunately need a cystoscopy which means being put under for the fifth time this year.

Intro

I am a senior with Ehlers Danlos Syndrome (EDS), a genetic disorder which causes the body to produce faulty collagen. Collagen could be described as the glue that holds the body together, because of it my joints are really flexible which causes them to be unstable and to dislocate often. My skin is fragile and I have a really hard time healing and get wide scars from every thing, it also affects some of my hollow organs like my bladder and digestive system. It is not degenerative, but because I don't really heal and my joints are always getting damaged from dislocating, the damage builds up over time so the problems grow the older I get.

The first clues that I have EDS started when I was weeks old. My hips would "pop" when my diper was changed and when I got dressed, as I got older and was able to express myself I would complain of pain in my joints (especially my hips) and the doctors would always say that it was in my head, that I was trying to get attention, or it was just growing pains and if I ignored it or got stronger it would go away. I was unable to hold a pencil correctly, do the monkey bars or pull ups, or throw/hit a ball with enough force in PE. Fearing that I would recieve the same answer as always if I told anyone that it hurt when I did these things and made my shoulders, hands, knees, etc hurt and pop never said anything about it. I avoided the monkey bars but worked doubly hard at home practicing throwing and catching balls and tried every pencil grip on earth to no avail in fact all the practicing just made things worse. So I would stay away from the center of the games in PE and my teacher just assumed that I was afraid of getting hit by the ball(which was sort of true because it hurt) there were many a day that I left PE in tears.

Seventh grade I had agonizing pain in my left knee and had 3 epidurals (one that was left in for a month, one for a week, and one in and out), a sympathetic nerve block, two joint injections, a year of PT and seeing a rehab psycologist before a 45 minute arthroscopic surgery rid me of the pain. Because once again, they decided it was in my head, since they could not find a source for my pain on a MRI and the epidurals never touched my knee (we now know this is because of a septum in my epidural space). Finally on Halloween of 07' I was diagnosed with EDS. It caused the problems with my knee, all of the pain in my joints, and several malformations (pectus excavatum, deformed hip sockets and femoral head/neck). I have had 2 surgeries on my right hip (surgical dislocation to fix a labral tear and smooth the femoral head and neck, one to remove the screws). The last year complications from EDS(including the surgeries) has earned me 21 total days inpatient at Children's hospital as well as almost weekly appointments there, PT, OT, and 5+ ER visits.

I also have had chronic migraines since the age of four. However it wasn't until I was seven that they were actually diagnosed. Once again the doctors believed that it was a ploy to get attention or that I was anxious about school. They later morphed into hemiplegic migraines, which left me with slurred speach, and right sided hemiperisis. Only high doses of prednisone would get rid of them. My freshman year of high school I had a hemiplegic migraine (or so we thought) that was triggered by a heating pack in PT that lasted 18 months it was dubbed a conversion disorder (phycosamatic) and ignored. I was eventually put on a high dose burst of prednisone to clear up a blistered rash on my back and my right arm started to work again, so plaquinil was added to the mix and I regained full use and haven't had another since. It also got rid of my daily fevers (100 +), mouth sores, some skin sores, and heat control isues, and some photosensitivity. I have been tenatively diagnosed with an unknown autoimmune disorder, but will probably eventually classified as lupus as my mom has it too.

I will hopefully graduate May 2010-I am .5 credits short because I have only been able to attend full time one year. I plan to attend CSU and study chemistry and soil conservation.