"You look too young for that" is a common refrain I've heard all my life. Either for simply revealing my age or when I've been in the position of having to explain why I have arthritis and other medical issues. There is a reason for that. My genetic makeup precludes me from making type III collagen. So I will probably always have a baby face.
The problem with the absence of this collagen is I tear easily. From the level of organ tissue to the cellular level I get tears constantly. When I was in school I would injure myself taking tests because repetitive activities like filling in bubbles strains those muscles. On the plus side due to the fact that the process of building stronger muscle involves tearing the muscle tissue means that I'm usually stronger than I look.
Disease characteristics. Ehlers-Danlos syndrome type IV (EDS type IV) is characterized by thin, translucent skin; easy bruising; characteristic facial appearance (in some individuals); and arterial, intestinal, and/or uterine fragility. Vascular dissection or rupture, gastrointestinal perforation, or organ rupture are the presenting signs in the majority of adults identified to have EDS type IV. Arterial rupture may be preceded by aneurysm, arteriovenous fistulae, or dissection but also may occur spontaneously. Neonates may present with clubfoot and/or congenital dislocation of the hips. In childhood, inguinal hernia, pneumothorax, and recurrent joint subluxation or dislocation can occur. Pregnancy for women with EDS type IV has as much as a 12% risk for death from peripartum arterial rupture or uterine rupture. One-fourth of individuals with EDS type IV who have undergone laboratory testing to confirm their diagnosis have experienced a significant medical problem by age 20 years and more than 80% by age 40 years. The median age of death in this reviewed population was 48 years.
This doesn't mean I'm due to have a blowout in a short time due to my age now, I could theoretically make it to an age where I could collect Social Security, if they don't raise the age again. My paternal grandfather, whom I most resemble, made it to 54 before his heart went. I'm on SSD now though due to my essentially fragile state, although my diagnosis with them is depression since trips to the ER for the uninsured are not considered for Social Security. But treatment for severe depression can be obtained if you are poor enough and don't mind being treated like a lab rat for big pharma.
Major diagnostic criteria for EDS type IV include:
Arterial rupture
Intestinal rupture
Uterine rupture during pregnancy
Family history of EDS type IV
Minor diagnostic criteria for EDS type IV include:
Thin, translucent skin (especially noticeable on the chest/abdomen)
Characteristic facial appearance (thin lips and philtrum, small chin, thin nose, large eyes)
Acrogeria (an aged appearance to the extremities, particularly the hands)
Arteriovenous carotid-cavernous sinus fistula
Hypermobility of small joints
Tendon/muscle rupture
Early-onset varicose veins
Pneumothorax/pneumohemothorax
Easy bruising (spontaneous or with minimal trauma)
Chronic joint subluxations/dislocations
Congenital dislocation of the hips
Talipes equinovarus (clubfoot)
Gingival recession
That scary list means a lot. Things like I didn't start walking until I was two because it is hard to balance on joints that are not stable. Kind of like trying to run on a surface of ball bearings. Additionally I had to over come the pain. Not only of my joints dislocating constantly but from the tearing of musculature and tendons and ligaments that accompanies that.
Every time a joint slips or dislocates, the soft tissue connected to that joint—tendons, ligaments, muscle, fascia, blood vessels—all stretches. Because of the structural defect in collagen, all that connected tissue is stretched beyond what normal should be; high- resolution MRIs reveal microtrauma, microscopic tears that start up the inflammation and coagulation cascades. But because each joint can subluxate over and over in just a single day, these microtraumas happen over and over in the same tissue without healing successfully. This was first pointed out as an EDS problem in July 2011 by Dr. Clair Francomano in her comments while presenting at the EDNF Conference: “Microtears are not visible with ordinary MRIs but are experienced by EDSers, causing pain and instability.”
But to the big problem, one I was aware of early this century but due to the for profit medical system I'm most likely to be unable to recover from easily. Rhabdomyloysis, also known as crush syndrome, has gradually made my kidney function nonexistent. All those tears leave damaged tissue that needs to be filtered out by the kidneys.
Rhabdomyolysis
Characterized by damage to skeletal muscle with the consequent release of toxic intracellular muscle constituents into the circulation, with or without dark (red or brown) urine (myoglobinuria)
The disease can be serious, with myoglobin-induced acute renal failure (ARF) developing in 30% of patients with rhabdomyolysis
I knew my symptoms had crossed the Rubicon when over a month after helping my daughter move from her apartment having my cat Bella step on my thigh elicited a scream from me. My tissues were not being flushed out to begin the rebuilding process. More than likely though my having chest surgery and the accompanying medications was most damaging. I lost fifty pounds in two months following my surgery. And my voiding has not normalized since.
I spent considerable time and effort to ensure that I was active leading up to NN13 as to increase my endurance, but this year that plan failed me. Despite resting (just because my body is failing me my mind and drive are still there) by the last day my kidneys had quit working completely. I'm getting some function back, but it may necessitate more drastic intervention like dialysis. I doubt with my condition or prognosis transplant will be an option. And even dialysis treatment may be denied because of the vascular damage that will occur getting my blood filtered externally.
Regardless I have found a physician that is knowledgeable enough to treat me properly. Unfortunately OHP will not allow anyone to enroll in the open plan so I have to pay her out of pocket. I'm going in for lab work in the morning but I doubt the news will be a surprise. I've already experienced the majority of symptoms indicative of my kidneys failing including the seizures I was getting while living in a warmer, dryer climate.
10:48 AM PT: Couldn't make it past Cerberus for labs. Have to wait until after the first when I get money again.