- CASE FILE
Daily drastic changes in cranio-facial shape. Deformities of nose, eyes, brow bones, cheekbones, teeth, jaw, and dome of skull.
ABOUT THIS CASE FILE
Hello all, I'm finally sharing my story about 7 -8 weeks after I'd hoped to submitt. Thank you so much everyone for sharing your story and to those who will read mine.The history I've typed here is extremely long... lots of appreciation and love for anyone who goes through and reads the whole story, but anything is appreciated. I'm sorry that people are suffering just as much as I am and more. I hope we will all find help or community if nothing else. When I saw this show being advertised and that they were taking cases into consideration I just thought maybe God was reaching out to me after all of this and starting to truly believe I was being punished. Photo's included in this case file include 'before' and 'after' photo's. These are not difficult to discern.
I don't talk about what I'm currently dealing with in much detail bc I don't want pity. At the same time, I'm drowning and need support. I wrote so much bc I haven't spoken about this yet aside from a few friends or vaguely referencing health issues. My name is Lisa and I'm 30 years old and for the last 3 years I've been dealing with unexplained fast progressing craniofacial deformity. Every day that I wake up there is marked difference in all the changes I'm experiencing. I would be lying if I said that I thought I had a future. I have over 20 current providers and have been through probably over 50, I drive to many almost 2 hours away to get better care. This obviously affects self image and worth. It's traumatizing to have such serious things happening, but there is more violation and trauma compounding the experience when you don't know if you can get help, or can't even be believed to find out until it's too late to likely do much if anything. And this is different from an isolated incident like an accident in that it gets worse by the day -I'm watching my life slip out of my hands and no Dr. is capable or interested in helping me preserve it. There is about a 90 degree angle where the bottom cartilidge is being pushed up - and then it gets pushed up further and smooths out but is in front of my face and further up until the next time it moves - and it goes back and forth with each push (or pull - I don't know if my skin is lifting it as my kyphosis worsens by the day, or if there are other changes responsible) upward between being bent into an angle, and being smooth front being pushed further still. I can't wear my mask for sleep apnea (which I'm sure contributes to my many other diagnoses) due to nasal cartilidge changing. I can't get a seal.
My eyes have already been sinking due to the front of my skull sinking inward daily, as the sides rise into condensed bulges (to be detailed). The forehead is the least noticable change, but it is undeniable if you look at the before and after photo's. My nose is also turned up... the x-ray of my nose shows no breakage of bone, so that seems to be mostly cartilidge movement. As my nasal cartilidge gets smushed upwards, my upper nasal cartilidge is getting scrunched up & it's a huge lump in each side, (of the sides of bridge) where before there was a dip. It has shortened by around 2 inches give or take as it gets smushed up (or pulled back perhaps) and into my face. I often feel I have to sneeze, nerves occasionally feel pinched. My sinuses hurt, and most of the time I can either can't breathe at all, or at least not well (throught the nose) due to structural obstruction, rather than mucus. Sinuses in nose and around eyes hurt as pressure increases. As for my skull, changes seems to be due to movement of bone itself; I haven't had an MRI for my skull in a while. My cheekbones are often in pain & I notice flattening. My skin is very oily and literally lumpy on my forehead (most visible on very top) from crunching together - also causes early wrinkling when both sides of my family are very oily and don't wrinkle until 50's or beyond. I did have an MRI a while back before I even realized it was getting this bad, and they said as they say for everything when they don't know what to do - everything looks 'normal' (I didn't know it was getting so severe yet so they also definitely didn't know). According to a physical therapist I had, my c1 (skull) looked as if it were out of place - yes she is aware, as a neurosurgeon pointed out to me condescendingly - that it is aligned or else I would be dead/paralyzed.
I have believed from before this was noteable to others, that this has all been happening as a result of the severe cervical kyphosis, and/or herniated discs.
A year or 2 before this began, I began having a more severe curve in my cervical spine. It seems as if it is getting pinned to my chest more and more...
There is a speherical 1"+ deep indentation, about an inch above the base of my skull that goes all around from the back of my head to my tmeples (one Dr. suggested it might be a tumor and while I'm open to looking into that, I've expereince it from it's start, as pressure on my skull...). It is a ridge and until it became much worse, it was only tangibly noticable by feeling it in the back where the Dr. had touched and remarked about a tumor. Now the resulting facial deformities indicate the mass movement.
I have constant pressure where the "bump" or divet is, but have gotten used to it even as it worsens. It is only now after progressing for 2/3 years, starting to cause significant pain. I take ibuprofen but hate having to put any extra substance in my body with all it's already dealing with. I do get awful pain in my eyeballs and head surrounding eyes, as well as the sides of my skull (about to explain the deformity).
Only months ago did I notice side plates at my skull have been crunching together with the top of my head literally shortening as the sides condense and bulge. The line of each side goes down into the dips of my forehead (including area above pituitary for w/e that may be worth knowing). This clearly connects to the other deformities in my face.
The line of where the bulge begins goes into my temples and then face... My TMJ and jaw have been forced into strange positions and now grind constantly based on where they are. I have to be careful with chewing and can't open my jaw very wide (I have not been having major issues eating). My teeth have been moving back and inward from the front and sides - it gets worse each day and changes how my cheeks rest (in fact I had wondered if my teeth were responsible for how my nose was changing, but doesn't explain how it continues upward and is being condensed) so I went to my childhood orthodontist and he said while I waited on an MRI of my TMJ I couldn't have braces to correct anything safely - but that he would make a retainer to at least try to prevent further movement. I noted that my teeth were changing so much that it would likely best I picked it up the same day as the mold was made (this office didn't have a 3-D printer) but he assured me it was in my head (like Dr.'s). I came in for a mold and they got me in pretty quick for a pick up just 2 days later. The tops did not fit and the bottoms were riding up... a different ortho was on this day but was familiar with my case and said he was questioning everything he ever knew, that indeed my teeth had moved more than he'd ever seen in just 2 days. I have had to improvize my chewing, swallowing, speaking, where i rest my tongue and can not move my face muscles around the bone in the same way which not just afffect my confidence as with all of this, but has caused some muscles to be unable to engage much or at all... this is true for muscle in my forehead and around my eyes as well.
There is marked difference in the shape of my cheek bones which seemed to have receded backward and widened (flattening - this is the least obvious change to others). The brow bone is sunken in, and sinks further each day, the cartilidge that rested on it and eyebrow hairs are resting almost right at the lid, an inch or more from where they used to rest. It makes me look ever sadder, tired, more deformed and much older (as all of this does) so I pluck the brows and draw them on higher, closer to where they rested. I also use contour and contrast makeup to attempt to make my nose appear contonoured in the places it once was, my cheekbones, forehead and other facial features as normal as possible. With so much change it isn't realistic to make them appear to be where they were - now the best i can do is attempt to look fairly normative.
Everything is so pronounced now that all of my Dr.'s believe me (weather they care or want to investigate, or not) once they see the before and after pictures. I've had to struggle to be believed about other pathology as well - in my spine which has, as a PT told me this year, pushed my skull at least out of place. After some testing between different Dr.'s we now know I have kyphosis, scoliosis (kyphoscoliosis - I wear a scarf to hide the fat that's condensed and pinned all into the front bc my head is both forward and down - with a scarf you can't see the fat or the 'hump' and it looks as if I am generall slouching voluntarily), stenosis in the bottom of my thoracic spine, herniated discs in my cervical spine and I am hoping to get MRI's of my lumbar and a new MRI of my cervical spine (it's been almost 3 years since my first) and obviously an MRI of my skull. I had an MRI of TMJ but the right coil wasn't used which I didn't find out about until I was present for the scan and the imaging wasn't optimal although the Dr. said my cartilidge seemed to be ok (in the TMJ). As my head is forced forward and down, my jaw is forced upward, hurting my ears and causing (older) ear infections to come up occasionally (ENT I've had for a yr says he can't see these). My ears have been forced back and upward as my skull is forced forward and down and the deformities progress). My face is much shorter than it was - an entire 2" or 3" due to my jaw being pushed up. My chin also is just under my lip when before it was inches further down, and at the bottomo of my face with room to blend into my jawline. My TMJ Dr. had agreed to give me the name of a colleague who is a craniofacial specialist bc he believed me about the changes in my skull even though it was out of his expertise. I was very excited... it turns out his colleague doesn't work on what I have (I don't know why he turned it down) so I've been told to call a clinic in Rochester, NY with no referral. I'm currently waiting for Dr.'s to send records - it turns out he only does pediatric cases.... so we're not sure why I was told to call there. The Dr. does work on some adults but may not accept me, he is most experienced with cleft lips, etc according to the nurse. I don't have anything secured then, as I was hoping I did.
Each day when I wake up cervical kyphosis is worse, forward & "in" more, being trapped at this point. I wear my scarf to hide the curve and the condensed fat that is pinned in front, as well as what has become a 'hump' (all of this making me look larger than I am and admittedly I'm well overweight right now with Hashimoto's, pre-diabetes and a past diagnosis of PCOS which my current OBGyn says I don't have (I have to acknowledge this at least once, before I'm accused of not considering how it affects things, or just that it exists even though this isn't what I am seeking help for). Each day my nose is smushed further into my face, my eyes are further back, my forehead is indented more and the sides of my head are condensed into larger bulbs making my skull wide and lower. Each day my teeth have moved and my jaw is smushed into my face more, making movement difficult and making me sound different. Every day I look different... It's one thing to mourn looks at a certain age when that is supposed to happen, but I am only 30. And OCD has taken up so much of my life already (residential [not inpatient] treatment in Wisconsin) and I don't know what kind of future I have, or if I want what it will be (I'm not currently suicidal). With the already high stress of family issues and severe OCD (that keeps me from being myself) exacerbated by trauma, I was already working against the current to be well. And I was doing well without OCD. I just feel like this is the straw that breaks everything - I can't do it all, and this would be a major stretch even for someone who is well. I can't go out in public without at least some stares or laughing, even by employees... or without being harassed.
I've promised myself that I would keep going as long as I could still try to get help. I first promised myself this almost 3 years ago now - when I first began witnessing fast progressing kyphosis and knew I wasn't getting help (everything was weight related to dr.'s so much so that one told me I had no pathology and told me I had scoliosis in the same sentance - she assumed I was that dumb). I renewed this promise to myself that as long as I could try - had insurance, a car to get to appointments, was alive and able to try - that I would unless at some point I knew there was likely no other future. It's been over 3 years now and with this facial deformity I realized was happening last year with no help in sight I don't know what's ahead. As long as I can make a difference I have a reason to be here and my work is why I'm still here right now. Between OCD and now physical issues, I don't know for how long I will be useful I feel barely useful right now. I wish I could volunteer and contribute more to causes I care about but my illness limits me. I have a couple supportive friends, and some healthy family out of state. I've been looking for a therapist for years... it is extremely difficult to find a good one once you've found some who take insurance and don't have wait lists. What I'm carrying is heavy and it may be too much. Dr.'s are supposed to keep trying, even when they hit walls. My rheumatologist is doing that - continuing to test even when he doesn't precisely know where to look- just trying still, bc he cares about me, not moving on or brushing me off. But he can't do this by himself and he's the hardest working provider I have other than my wonderful primary nurse I got this year, who gives me just about any referral I ask for - she would send me where I need to be seen but doesn't herself know where that is or who tests and treats for something like this. It's horrible to have Dr.'s decide it either doesn't matter, or shrug their shoulders as if this is your lot in life - as if there's nothing devestating to grieve - as if I havn't been advocating for myself and doing my due diligence for years... or as if since someone has something wrong, they must have earned it. I had only a handful of providers who believed me in the beginning of realizing the facial changes last year - my pulmonologist and my PT.
It's violating not only to be dealing with something that affects your physical, mentla and social well being, and not be able to do anything about it - but also to not even have anyone who was going to believe to even begin finding what's wrong or treating it.
Other issues symptoms and issues I have are:
*(2 separate but overlapping issues) I have extreme weakness in my legs and can't engage all of the muscles sometimes. I also walk strangely bc of damage to the top of my femurs and hip (visible in xray to my primary care who ordered it, but a less than successful contrast MRI didn't show anything needing surgery and the orthopedic told me she wouldn't put any limitations on my physical activity. I see so many Dr.'s that I haven't bothered trying to see anyone else but I can no longer walk fast or for very long or even stand for more than minutes - and it doesn't have to do with weight because I was standing fine before I've experienced more grinding and hips being pushed (not pulled by weight) farther forward which began after a very physical job. I have to compensate with my muscles holding me where they aren't intended to - I get awful muscle spasms in my calves, but the general weakness and lack of muscle control seems to be something else, maybe neuroomuscular.
*(3 separate but overlapping issues) I experience extreme dizziness and extreme short term recall issues, including forgetting what I planned to speak about in a conversation. Sometimes the only evidence that I have forgotten something I'd already done, is the physical evidence that it had been done - unlike in the past, seeing evidence of a task done does not bring back memory of doing it always - sometimes I only know I've done it bc of the evidence itself and no even later memory. I have experienced no issues with my long term memory. I notice difficulty cognating, especially as my eyes get pushed back (this also causes sadness, depression, and a feeling of sleep deprivation despite sleeping properly). This worsens by the day - it takes physical work and time to think.... which is devestating. My identity has surrounded my intellect... as well as my self worth as it does for most people.
My rheumatologist is trying to test me for other autoimmune disorders in addition to my diagnosed Hashimoto's. I've tested positive for ANA (the anti-nuclear anti-body) & had high tryptase when my rheumatologist tested me. This can mean you have a serious autoimmune disorder, or an immunodeficiency (high trypstase can mean mast cell activation - disconnective tissue disorder). Immunology said tryptase was not during another blood draw, but he also believes things are in my head or generally not his problem, (even after seeing photo's) so I'm not sure he was even telling me the truth - he had forgotten rheum referred me to him to explore many things (this referral was not my idea) including mast cell activation which he had to explain to me before doing the pneumovax immunology test - only to waltz in the room the next appointment literally laughing and say he didn't know *why I thought* I had mast cell activation and that my tryptase wasn't high... I had to remind him it was, and that the referral was not my idea nor did I know anything about Mast Cell Activation (he himself had to tell me why I was referred and explain it during intake).
*I have Extreme sensitivity to light. can tolerate for only so long, have to use sunglasses often or I'm squinting. in my own apartment I close all the blinds during the day and only turn on my bathroom light, a light under the microwave on low, and my tv's and computers for light at night. I've notice it's extremely hard for me to think and I am extremely irritable only to realize it's bc there's too much light and it's hurting my eyes and head. If I am out all day I will have a pounding headache from it and have to sleep with blinds shut as soon as I get home.
Other diagnosed & undiagnosed (but acknowledged for furhter testing - pathology in hips) illnesses are:
Osteoarthritis (being tested for rheumatoid as well bc when you have one autoimmune disorder, you are more likely to have others) in hips found in xray (honestly due to not getting help when I first asked ofr it 3 years ago), also noted in TMJ though the specialist didn't remark on it, feel arthritis in ankles hands on and off. Ankles swell to 4x's size once and a while right at the joint (not edema). Any part of me with arthritis can swell...
Difficulty breathing progresses as kyphosis worsens (passed a swallow test over a year or 2 ago, but it doesn't change that this worsens by the day), lung obstruction (Obstructive Lung Disorder) and constant wetness in lungs that only gets worse. I stopped asking for x-rays because I don't need tons of radiation and they were never showing pneumonia except for once in urgent care, and my pulmonologist said they didn't see anything after I finished anti-biotics. This gets worse and doesn't get better.
Long QT that sometimes gets very long. Lots of palpatations and difficult circulation - I haven't been tested much by cardiology but I suspect POTS. Thallassemia (Minor, Beta).
According to radiologist - potential tear in acetabulum,
chronic ear infections and minor hearing difficulties (test showed I still do pretty well),
cysts behind ears,
small acne on body (2 tiny spots) that leaks and doesn't close up,
seizure of intestines on and off that lasts weeks and months (suspected gastroperesis, waiting to see GI).
I have chronic UTI's (I've been on over 25 rounds of antibiotics in the last 4 years if I had to estimate) and my GI issues began after 3 rounds of antibiotics in less than 2 months a couple of years ago Spring 2016 - it hasn't been the same since.
I can take probiotics and some work but then I become immune to them and become even more constipated and have acute abdominal pain.
My urine cultures often culture negative, though my white blood count is extremely high especially when I'm more dehyrdrated than usual and having to use the bathroom more than once per hour. I feel nephrology is my next best referral once we've established if I have a kidney stone or not (I'm not in pain but was told I could have one that is harboring bacteria),
Hashimoto's with multinodular thyroid,
positive for Anti-nuclear antibody and high tryptase has been found,
near constant low-grade fevers,
Thallassemia (Minor, Beta) (rare genetic disease that runs on mom's side. I was tested at birth and tested since. It leads to chronic anemia and it is not safe to take much iron if any with this condition as it build up in liver and brain).
Ongoing severe Vitamin D defiency
Past - PCOS diagnosis, latest OBGyn said currently negative.
positive for both pairs of celiac genes yet also negative for the panel at this point only an endoscopy would clear that up (waiting to see GI),
Only a few food allergies like barley and rye (I just pushed to have basic food allergy testing if nothing else since I now have an immunology referral),
I just had a pap under anethstesia and it was abnormal, also had endometrial biopsy and was injured during this surgery in April - still looking for follow up care and possible colposcopy (I was removed from this practice after not being allowed to see OR note on day of follow up appointment - was told I would get it when I went back to see the Dr. who was shapperoned by the practice administrator bc they knew I was a liability. I left since the appointment was conditional and listening to the victim blaming wasn't optional. I then got a letter say I didn't make appointments).
I cannot walk or even stand for long and can no longer run at all when I had kept up running and using olypticals and walking for miles despite gaining weight - this is due to wear and grinding of femur and femur-change in position in hips (both sides but worse on the right) - it always feels like there is a fever 'in my hips' (best description) and the arthritus is worsening. My legs are at different legnths as a result and I have to walk extremely slowly not to tear something or snap something (which happens often).
Herniated discs and disc degeneration in cervical spine,
stenosis at bottom of thoracic spine,
other undiagnosed spine issues (haven't had an MRI of the lumbar and not current with cervical MRI).
Sleep apnea (cannot wear mask due to change in cartilidge, don't know if I can persue dental device due to tmj issues and changing in teeth on a daily basis).