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Born with partially clubbed feet. Having chronic back pain and severe scoliosis. What could it be?

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Pediatrician, Pulmonology
Practicing since : 2003
Answered : 1803 Questions
Please read prior questions before you answer- after having about 50 adrenaline surges while laying on my right side for a brief time after my injury- I felt like I was going to jump out of my skin. I got back on my computer and started googling the symptoms.One thing led to another & I can across Vascular Ehlers-Danlos Hypermobility-It was like a light was finally at the end of a tunnel. I am 51, a former gymnast & contortionist. I was born w/ partially clubbed feet. As an infant they said I was floppy & I slept in my crib in the straddle splits. I did not walk until after 2. I score 7 on the Beighton Score, even today w/ the injury. Pretty much every complication I have had over the years, every health problem,dislocated hips, elbows, knees, the severe scoliosis I have had since I was really young, the chronic back pain, the emerg hysterectomy at 32, because of varicose veins in the uterus, some 2" wide- all related.I had a post op complication w/ cardiac/respitory arrest in 2000- the stitches inside my neck after removing the rest of my throid came apart & I was in ICU on a respirator for 3 days. I am awaiting XXXXXXX care at the Mayo clinic to remove the 2 discs- they have sad they believe the sacrum stress fractures will heal over time. My 3 kids, age 31, 26 & 19 score 7, 7 & 6. My son has dislocated his knees 3 times, elbow once, detached bicep 2 times, daughter at 8 had post op complications of burst artery in throat 6 weeks after tonsils removed w/ collapsed lung, also IBS, abnormal stretch marks for a thin person, bad valves in veins. Where do we go from this point? I have to grand daughters? Do we test them now or my son first? Who do I need to see? How will this effect my daughter and her chances to carry a child w/o complications? Believe me, I am happy to have a real direction to go in, just worried for my kids and family?
Posted Fri, 22 Nov 2013 in Child Health
Answered by Dr. Arun 23 hours later
Brief Answer: Probably you have ehler danlos type 4 Detailed Answer: Hi Thanks for writing to healthcare magic. You probably fit into ehler danlos type 4 This is autosomal dominant meaning 50 percent or more of next generation can be affected by it. Please consult a genetic expert to get you and your family members tested for COL3 A1 mutation or collagen analysis which is usually positive in such individuals. You need to test all of them together. Antenatal tests can be done to identify the problem in fetus and this needs both genetic lab and gynecologist for chorionic villi sampling or amniocentesis . Hope i answered your query. Do get back if you naeed further help Regards Dr Arun
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