Had My Last Genetic counseling Session-feel Like explaining as briefly as possible- my complex Rare Results

GENETICS-so Im the Lucky Winner of a Rare result-2 Mutated Genes-- Each responsible for Collagen&Keratin production for every CellType except BLOOD. Today was my LAST Counseling session. 1 mutated Gene=for expression of keratin/protein matrix-cellular level/global-3rd layer of skin is incomplete>immunocompromised. ACAN gene mutation effects the collagen matrix, constituting ALL connective tissue. collagen ossifies> bone cells>weak,thin, aged/growthstunted/lowdensity bone,poor weak thin articulation/cartilage/ligaments-everything is weakly bound, low cell count thin&tears. Intervertebral discs are ruptured before age30. organ capsules,epithelia, joints,& vessels are layers of CT- the Most differentiated tissue type. If BOTH copies of the gene were mutated (progeria/osteogenesis imperfecta) I'd have died-I have 1copy. JACKPOT> They were excited & brought Students in. ONLY patient in the world (on record) with these 2Defects on these 2 genes, so there's no prognosis & it cant be Labeled in the GEnome database as PATHOGENIC-(no studies, no matches) All resulting diseases may be denied coverage by insurance. You can't grow or remodel bone without collagen(from gestation).Thats why im tiny , constantly tearing,spontaneously dislocating, organ adhesion,alllergies,asthma, sensitivities, osteoporosis,stunted long bone growth, osteoarthritis,advanced bone age-genetically. Cant replace or fix any of it, because its ALL of it.

They dont teach any subset of Anatomy beneath the Organ level in school. Heres something that might be interesting to learn about the structure and function of CT . http://www.biologyreference.com/Ce-Co/Connective-Tissue.html

at least i have a SmallSet of people in my life who don't debase a person as human, deficient in a way that's out of my control. EVERYTHING makes sense- Every Orthopedic has looked at scans since my 20s, saying "you have the bones of an 80 year old", tried to diagnose, but none fit the overall symptoms in the WHOLE body. The kidney connection is still unknown because no one has researched the connective tissue role in renal development-but my dads side has kidney failure in 2cousins (sandy+R).

There is a reason to work hard to stay Healthy. I live with debilitating pain nerve damage, daily repetitive injury, and Refuse to accept pain meds. I supplement,exercise,strictdiet, TENS,& deal. Im down more than Im up, but thats how this works. lifestyle is the only weapon I have to hold together the crap I'm given.

Judgmental aholes can stfu until they have walked a mile in my shoes, shoes too big for your feet...walk all your life in those shoes and then come again.

There IS a reason I play the fairy-I've been told I "fit in a pocket" since I was 10. There has always been a reason I became a gymnast, dancer, tumbling cheerleader, played the fairy, got on the pole, worked out til i can't move, stay as strong as possible and Learned everything I could.Society demands MORE from me than other people, because I am DISCOUNTED on sight.

Sports & education are EQUALIZERS- the only places IN this world where i can COMPETE with AverageSized PPL by putting in the WORK, despite limitations. I have been on the threshold of being hired for jobs I've worked hard to rise to in my fields, UNTIL the moment the Team meets me-then they scramble to say NO without violating ADA law. Without a Diagnosis, they have been able to discriminate against me, my whole career. A mile in my shoes, as with anyone. Words and appearances mean nothing, it's what a person does that defines them.