Familial Loose Joint Syndrome

I have a genetic anomaly known as Familial Loose Joint Syndrome.  Recently someone was lead to my blog with the search “loose joint syndrome”.  In an effort to provide people with the information they are looking for, I decided to write about it.  There is not a lot of research on the topic, because research is mostly funded by pharmaceutical companies.  Pharmaceuticals won’t make my body normal so there is no “money” in it for the pharmaceutical companies.  This article is not based in science.  This is more from the perspective of personal experience.

Familial Loose Joint Syndrome is in most cases a genetic anomaly characterised by unstable joints.  The instability is caused by a defect in the production of collagen.  Collagen is the primary component of connective tissue.  Connective tissue, as the name reflects, holds the body together.  Therefore, Familial Loose Joint Syndrome can affect the entire body and not just the joints.

It’s an emotional topic for me.  As a small child I had to wear leg braces to keep my legs and hips in alignment.  I’m talking Forrest Gump leg braces.  Every morning I would have to put on that evil contraption.  Every morning I would cry, because I thought I was a freak.  I refused to wear anything that would show my legs.  I wouldn’t wear dresses or shorts. It was a daily battle for my entire family.  To this day, when I think about it, my eye tear up.  My oldest brother Scott, also had to wear leg braces, but he was an infant and I don’t know if he really remembers.

Joint dislocations are Common.  There are four kids in my family, and all of us have loose joints.  Dislocations and breaks of the fingers and toes seemed like an everyday occurrence in our family.  I can remember coming home and showing my Mom a dislocated finger.  She promptly drug me to my oldest brother’s room.  The conversation went something like this:

Mom, “Show your brother.”

Me, “No.”

Mom, ” Why not?”

Me, “Because he will pull on it.”

Mom, “No he won’t.  Will you Scott?”

Scott, “Let me see.”

Me, “No.”

Scott, “Why not?”

Me, “Because you’ll pull on it.”

Scott, “I won’t pull on it.”

Me, “You promise?”

Scott, “I promise.”

Me, “OK.”  I slowly and cautiously moved my hand toward Scott.  He slowly reached for my hand and very carefully felt the swollen joint.

He said, “Yeah, it looks like you dislocated it.”  Then he proceeded to quickly pull my finger back into place.

Me, “Ow! You promised!”

Scott, “I lied.  But doesn’t it feel better now?”  Needless to say, I started resetting my own dislocated and broken fingers after that.  My brother Scott, is now a Physical Therapy Assistant.  He loves his work and is very good at it.  His patients love him very much, as evidenced by all the food that they bring him.  Yes, I’m jealous.  Those southern ladies can cook!

Hormones are a bitch for any woman.  However, a woman who has a collagen defect, lives a silent Hell.  I’ll list some of the effects of hormones on the female body and then tell you how it affects my life.  Estrogen reduces vascular tone and some people with loose joints already have a less than normal vascular tone.  This can lead to a sudden drop in one’s blood pressure under certain circumstances.  When this happens, I will suddenly become weak and foggy brained.  I feel like I’m about to pass out.  Well, actually, I have passed out a couple of times.  Relaxin is a protein hormone that increases laxity of the connective tissues.  In women, it peaks within fourteen days of ovulation.  If you are like me and already have lax connective tissue, this increase makes your body even more lax and susceptible to injury in the days before your monthly cycle.  Relaxin also increases and “prepares” a woman’s body for child-birth.  In my case, it can lead to miscarriage (common in my family), premature rupture of membranes (been there), detachment of the placenta, and least pleasant, a sudden spontaneous delivery.  With both my children my labor itself was long but actually delivery…  I went from being five cm dialated to childbirth in fifteen minutes.  (This one really freaks out the hospital staff!)  Because the uterus and blood vessels are made of connective tissue themselves, there is an increase in bleeding, both during child-birth, postpartum, and during the monthly cycle.  Due to this, I’m often anemic and weak.  Gynecologic hemorrhage is a common occurrence when hormones get even slightly out of balance.  My mother had to have a hysterectomy, due to this.

It affects the muscles too.  My mother, youngest brother, and oldest son all had to have speech therapy.  Anatomically and mentally, they were capable of normal speech.  I feel that the laxity of the muscles made it difficult for them to form words.  Lax muscles in an unborn fetus can make it impossible for them to turn in the right direction.  This can lead to what is known as a breach birth.  My second brother was a Butt first baby.  (That might explain his personality)  My Orthopedic doctors, explained to me that it was important to maintain strong muscles.  Because my ligaments and tendons don’t “hold” my joints in place, I have to depend on my muscles to do it.  As a child they recommended dance or gymnastics to increase muscle tone.  As an adult, I choose martial arts.  I have been fortunate to have some very good instructors.  They were able to notice the little things that were wrong with my body.  They would then structure my training to “fix” those problems.  A big problem with hyper-lax people is the lack of proprioception.  It means that one doesn’t naturally “know” where all of their body parts are in relation to each other.  Another is Trendelenburg’s Sign, it is the inability to keep the pelvis horizontal while standing on one foot.  My Karate instructor spent six months working on this anomaly and I no longer exhibit the Trendeleburg’s Sign.  I also have excellent proprioception now.  I lead a very normal life because of the hard work of my martial arts instructors.  I still have problems.  The main one is fatigue.  My muscles have to work twice as hard as normal people’s, so they take longer to recover from physical exertion.  When I sleep at night, my muscles relax and my joints slip out-of-place.  My sleep is often disrupted by pain from this.  There are days, when I can barely walk.  I believe this is due to periodic episodes of excessively loose joints, misalignment, and/or pain.

Yes, skin is a connective tissue and is affected.  Simple little things like tape will tear my skin.  My sons, my brothers, my mother and I all have problems with stitches and scaring.  When a doctor has to use sutures, they almost always “fall out” before the wound or incision has healed.  Wounds and sores take longer to heal which increases the risk of infection.  My second brother Dale broke his right arm in two places.  One break was above the elbow and the other was below it.  It was also an open fracture that severed an artery and became infected.  To get the wound and bone to heal,  he had to have numerous surgeries.  His right arm is currently comprised of a vein from his leg, skin from his thigh, muscle and nerves from his back and bone from his hip.  I have to go off topic and say, Navy Docs Rock!  They saved my brother’s life and arm and he has since regained full use of of that arm.

Pain medication doesn’t work.  Morphine, Demerol, and Codeine are useless to me.  They don’t help the pain, they only make me dopey and confused and much more likely to injure myself.  The same goes for spinal blocks.  They leave me paralyzed from the waist down, however I still feel the pain.  Non-steroidal anti inflammatory medications help with some of the pain caused by inflammation.  Ice or heat works better than medication.

Nerve impingement is common.  It is not unusual for my joints to slip and pinch nerves.  Once, I started losing the function of my right arm and had to have shoulder reconstructive surgery.  My second brother Dale, also had to have reconstructive surgery on his right shoulder.  Recently, I had problems with a pinched nerve in my neck.  I was loosing my grip in my right hand and my right leg was not doing what I was telling it to do.  During that period, I dropped a lot of things, and tripped on things that weren’t even there.  It was also very, very painful.

And contrary to what I’ve been told by some Doctor’s  It does get worse with age.  One doesn’t “grow out of it”.  Because my joints are so loose, there is much more wear and tear on them.  As a result degenerative changes have occurred.  There appears to also be some nerve damage.  I don’t feel pain like I used to.  My joints have become more loose and stiff at the same time.  I know that sounds weird.  I have lost some of the resilience in my connective tissue.  That causes even more wear and tear, which results in more frequent swelling of the joints.  The swelling causes the joints to be stiff.  My brother Scott, frequently complains about the stiffness in his hands.  When I was four, I remember the doctor explaining my prognosis to my mother.  There was a chance that I would have to have surgery on my left hip (the ball and socket joint is not formed correctly).  The constant excessive wear and tear on my joints would lead to an early onset of Osteoarthritis.  I think I’m there.  I’ve also been told that I should be evaluated for Ehlers-Danlos Syndrome (leads to osteoarthritis) and Sjogrens Syndrome (similar to rheumatoid arthritis).  Those two are scary to me and I’m not ready for scary right now.

Living the life – some part of my body hurts everyday.  I’ve been in pain my whole life, so unless it hurts really bad, no one notices.  It hurts less when I’m able to exercise and keep my muscles strong.  Despite all of the discomforts and complications, I’m a happy and active person.  Fatigue pisses me off, but it happens and I use that time to read, write, and catch up on tv shows and movies.  My cycle is so bad that it leaves me feeling weak and drained.  It happens.  I still have three “good” weeks a month.  I chose an unlikely sport for a person with Familial Loose Joint Syndrome.  But it makes me happy and it has helped me to over come a lot of my physical deficits.  If you watch me walk, you would never know that I have a deformed hip-joint and wore leg braces as a child.  Martial arts give me a sense of accomplishment and self-confidence.  It keeps my body strong.  Yes, I do get injured more often than other people.  But look at it this way, over all I have fewer injuries and complications because of my martial arts training.  Because of my martial arts training, my body is strong.  I am coordinated which allows me to avoid potential injuries.  I learned break falls which also prevents a lot of injuries.  It’s more about living a balanced life.  We all have “things” in our life that threaten our happiness and or physical well-being.  We have to look deep and find that bright spot that makes all the badness pale in comparison.  My bright spot is martial arts, even on the days that it is difficult to drag myself down to the gym and try to function.  My happiness and health are worth it.  There are some benefits to this whole loose joint thing.  I’m super flexible, which makes martial arts easier.  My muscles have a “relaxed” qualitity to them which makes me really fast.  A definite edge for a fighter or most any other athlete.  Loose skin = no stretch marks after two pregnancies!  Yes, I have the stomach of an 18 year old!

Most Doctor’s aren’t familiar with Familial Loose Joint Syndrome or they may know it by a different name.  It has many names.  If a Doctor is familiar with it, they usually only know how it affects their area of medicine.  No advice for you there.  Sorry.

List of complications experienced by myself or a family member:

  1. Daily pain
  2. Joint stiffness
  3. Frequent joint subluxations and dislocations
  4. Nerve impingement
  5. Poor wound healing
  6. Miscarraige
  7. Premature rupture of membranes in pregnancy
  8. Detachment of placenta
  9. Breach birth
  10. Sudden spontaneous child-birth
  11. Shoulder reconstructive surgery
  12. Leg braces
  13. TMJ
  14. Extreme fatigue
  15. Excessive monthly cycles with anemia
  16. Gynecologic hemorrhage
  17. Sudden fluctuations in blood pressure
  18. Sleepless nights
  19. Vision problems
  20. Eyes can be fragile and easily damaged
  21. Speech impairment
  22. Transient disruptions in physical ability
  23. hernias
  24. Aneurysms
  25. Heart murmurs and Mitral Valve Prolapse
  26. Early onset of osteoarthritis
  27. odd scaring patterns
  28. Most of us seem to suffer episodes of foggy brain and metal confusion ( I think this is associated with episodes of low blood pressure)  On I.Q. tests, we are all considered to be above average intelligence or in the superior intelligence range.  However, over half of us are also considered to have a learning disability.  Sometimes they call it dyslexia other times it is called attention deficit.  I don’t know if this is related to the loose joint syndrome or not.  It does seem odd that it corresponds to the degree of our loose joints.  The more lax one’s joints, the more difficulty that individual seems to have in traditional learning environments.
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8 Responses to Familial Loose Joint Syndrome

  1. Shark Girl says:

    Thanks for this post. It’s very interesting. I knew nothing about this condition. Question: why don’t pain medications (besides NSAIDS) work?

    • -Why don’t pain medications work? No body knows…
      -From what I understand and have experienced, It’s mostly opiates and medications of the Lidocaine family.
      -See Wikipedia article – Insensitivity to lidocaine (http://en.wikipedia.org/wiki/Lidocaine)

      Relative insensitivity to lidocaine is genetic. In hypokalemic sensory overstimulation, relative insensitivity to lidocaine has been described in people who also have attention deficit hyperactivity disorder. In dental anesthesia, a relative insensitivity to lidocaine can occur for anatomical reasons due to unexpected positions of nerves. Some people with Ehlers-Danlos syndrome are insensitive to lidocaine.[12]
      -Pain and the treatment of pain is very complicated. Your question has sparked a future article or series of articles on pain and pain manangement. Look for it later this month.

  2. Kim says:

    Wow. This was very informative. I hope people who have this do find your blog. I think they will be really inspired, and informed.

  3. Hey, thanks for reading my psycho babble. Shark Girl, will have to get back to you on the answer. It is very complicated, but a very good question.

  4. Dagney says:

    What an inspiring and informative post.

  5. Veronica says:

    Hey, thanks for linking my blog.

    My EDS sounds very much like your FLJS, so not sure why being evaluated would be scary for you? Same symptoms either way really, just a different name (and you get to be “rarer” when doctors see you, which is kind of cool).

    Hope you’re doing okay.

    • Hey thanks for stopping by. I love your blog. It’s comforting to know that there are other people out there that understand what my life is like. I think I’m going to put getting tested for EDS on my list of goals for 2012. My eye doctor says that I also need to get tested for Sjogren’s Syndrome. It also runs in my family and I’m exhibiting symptoms of that syndrome as well. Both syndromes compromise the joints. All in all, I love martial arts and it helps to keep me strong and active.

      I’m using this time of not being physically active to sort out some business and finance plans. So it’s all balancing out.

      Thanks again.

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