Thursday, February 25, 2010

My Appointment with Dr. Francomano

I've been meaning to update on this for a while. I just haven't been able to get it done.

Dr. Francomano has very thorough appointments, and she even sends you home with a summary of everything discussed during your visit. So, I just have to go through my 8-page "Initial Consultation Summary" and decide what information is the most important. I'll do my best below. Afterward, I'll include any thoughts on the appointment.

First, there was a very complete medical history taken. I'll skip over that, since that information is all available at my website, which is now archived (

There is then a list of diagnoses from my history:
*Chiari 1 Malformation, decompressed 2002
*Dysautonomia, POTS, diagnosed 2003
*Cranio-cervical instability/cranial settling, status/post fusion 12/2003
*Occult tethered cord, status/post untethering 6/2008
*Osteopenia, diagnosed 3/2008
*History of Vitamin D deficiency
*Restless Leg Syndrome/Periodic Limb Movement Disorder
*Bicuspid Aortic valve
*Aortic Regurgitation

Surgical History
*Tonsillectomy, 3/2002
*Posterior fossa decompression, craniectomy, C-1 laminectomy, 7/2002
*Invasive cervical traction, 11/2003
*Cranio-cervical extraction fusion, skull to C-4, 12/2003
*Cholecystectomy, 4/2008
*Section of Filum Terminale, 6/2008
*Repeat invasive cervical traction, 6/2008

*1/16/03-1/25/03: severe drop attacks and blackouts, diagnosed with POTS

Known Allergies
*Compazine: dystonic reaction
*Wellbutrin: seizure
*Sulfa drugs: severe gastrointestinal distress
*Opiates: rash, severe pruritis
*Adhesives: skin deterioration
*Sensitivity to many medications, especially antibiotics and narcotics

Review of Systems
Frequent fevers
Difficulty falling asleep
Difficulty staying asleep
Chronic fatigue
Ringing in the ears
Swallowing difficulties
Shortness of breath
Ches pain
Racing heart beat
Heart murmur
Exercise intolerance
Abdominal pain
Digestive problems
Urinary urgency
Urinary frequency
Easy bruising
Temperature instability
Migraine headaches
Non-migraine headaches
Frequent falls
Brain fog
Loose joints
Joint pain
Joint subluxations
Muscle pain
Myoclonic jerking

Next was the review of my family history. I list a couple of the key points here:

A three-generational family history was obtained. Pertinent findings include:
*Joint pain and history of two shoulder dislocations in one family member
*Knee subluxations and joint pain in one family member
*Joint laxity in one family member
*Joint laxity and history of dislocations in one family member
*Knee subluxations in one family member
*Intra-cranial hypotension, spinal cord leak, hip subluxations, and joint laxity in one family member
*Degenerative disc disease in one family member
*Osteoporosis, scoliosis, arthritis, and loose knees in one family member
*Migraines, early-onset osteo-arthritis, weak ankles in one family member
*loose ankles, runner's knee, and tendonitis in wrist in one family member
*Atrial septal defect, arthritis, and degenerative disc disease in one family member

Pertinent Findings from the Physical Examination
Height: 64" (I shrunk again!)
Facial Features:
Grey sclerae (The whites of my eyes are not white when you shine a light in them; they're grey, because the connective tissue is very thin.)
History of dental crowding
Palate: High, not narrow on examination, but she is status post palatal expansion
Uvula: asymmetric
Other: widely dilated pupils, symmetric, reactive to light (must have been a good day)

Abnormal: absent proprioception, marked dysmetria on finger to nose testing, difficulty with rapid alternating movements. Reflexes are 2-3+ and symmetric. Downbeat nystagmus noted. No clonus, no Babinski. (Basically, this means that I have a number of strange neurological responses.)

Downsloping ribs present (My ribs go down lower than they should, so there's a short distance between my rib bones and my hip bones.)

Beighton Score
Passive dorsiflexion of 5th MCP >90 deg. R and L (My pinkie finger can be bent back beyond 90 degrees, barely. That gets me 2 points.)
Thumb can touch forearm R and L (I can do this on both sides, getting me points 3 and 4.)
Elbow hyperextension beyond 10 deg. R and L (She actually measured. Every other doctor just "eyeballed" it. Both elbows did bend backward more than 10 degrees. Points 5 and 6)
Knee hyperextension beyond 10 deg. R and L (Both were quite bendy. Points 7 and 8)
Can touch palms on ground with knees extended. No (I always could do this one, but haven't been able to since my detethering, for some reason. So, my Beighton Score is officially on 8 out of 9. Much higher than other doctors have measured it.) Measurements to follow.

More hypermobility
Able to touch tongue to tip of nose

Shoulder Hypermobility: Hyperextension on both sides

Elbow Hypermobility:
Left: 15 degrees hyperextension
Right: 11 degrees hyperextension

Hip Hypermobility: Hyperextension on both sides

Knee Hypermobility:
Left: 20 degrees hyperextension
Right: 25 degrees hyperextension

Small Joint Hypermobility
CMC joint hyperextension
MCP joint hyperextension
DIP joint hyperextension
(My hands really are not very flexible. You want to see crazy flexible hands, you should see Gustavo's. He doesn't have EDS. Just stretchy hands.)

Pes Planus present (I have flat feet.)
Piezogenic papules present (These little tiny bumps that appear on the inside of my heel when I stand.)
Scoliosis present
Straightening of the cervical lordosis present
Straightening of the thoracic kyphosis present
Lower thoracic lordosis present

Soft texture present.
Hyperextensibility of the skin present (I never thought I had this. But she stretched the skin on my hand and around my neck and I guess it stretched more than normal.)
Translucent skin present (We all knew this one...everyone whose ever tried to do my makeup!)
Scarring present: atrophic scars on both knees. Well healed surgical scars, cervical and lumbar.
Evidence of bruising

Other Findings
She is wearing a Vista collar. There is a II/VI systolic ejection murmur heard best at the left upper sternal border.

Based on the above, it is our impression that Ms. Richardson has joint hypermobility, soft, translucent, stretchy skin, and craniofacial features consistent with classical Ehlers Danlos Syndrome. Her bicuspid aortic valve and the atrial septal defect in her [family member] are of interest and may suggest a specific sub-type of heritable connective tissue that has been described recently.

The family history is remarkable for connective tissue findings on both sides of the family and it is possible that she has inherited one allele from her mother and another from her father.

Other notes
"EDS affects collagen. Collagen is a protein, which acts as a 'glue' in the body, adding strength and elasticity to connective tissue.

It is important to note that the range and severity of symptoms may range from person to person, even within the same family. Most types of EDS are inherited in an autosomal dominant manner. This means that if a parent has EDS, each of his or her children have a 50% chance of also having EDS.

(We also discussed the genetics of the trifecta. She agreed that it is much more unpredictable, and while research is being done, we may never be able to predict or prevent passing on the trifecta. She couldn't say much more about advising me in my decision, because we just don't know. She was aware of "trifecta families", in which both Chiari and EDS seem to be passed down at a much higher rate than they would on their own.)

Individuals with joint hypermobility often experience chronic muscle and joint pain. The age of onset may vary from adolescence to older adulthood. The pain can vary in the number of sites of the body that it affects, in duration, severity, and response to therapy. The severity of pain is generally greater than what is expected based on physical and radiologic examination. Sleep disturbances and chronic fatigue are often present among individuals with chronic pain. Affected individuals are often diagnosed with chronic fatigue syndrome, fibromyalgia, depression, and hypochondriasis prior to receiving a diagnosis of joint hypermobility. The cause of the pain is not entirely understood. However, it is thought that the pain experienced by individuals with joint hypermobility is related to myofascial and neuropathic pain. Myofascial pain is usually located around or between the joints and is often described as aching, throbbing, or stiff and may be caused by muscle spasms. Chronic joint instability may cause the myofascial pain, as the muscles attempt to respond to the joint instability. Neuropathic pain may be caused by nerve impingement (caused by subluxed vertebrae, herniated discs, osteoarthritis, or other subluxed joints) and is often described as electrical, burning, shooting, numb, tingling, or hot or cold discomfort." All quoted from Dr. Francomano

Aquatic physical therapy for muscle strengthening (however, she said to hold off for now, because my body is not ready at this point)
Myofascial trigger point workbook to help with myofascial pain
Lidoderm patches for pain
Actipatch for pain
Orthotics for flat feet (I wonder if I just get these at the store, or go to the orthotist?)
Diclofenac topical for joint pain
Epsom salt foot baths
Follow up with TCI as planned

And that was it. I really like her. I would say the only thing that disappointed me a bit were the treatment options. I didn't realize there was so little to do for EDS pain. I'm not sure where to find a myofascial release practitioner, and she prefers that it is a physiatrist, and I prefer that it is one covered by insurance. Either way, I'm not sure that right now is the best time to start a new therapy regimen.

Also, I had 8 questions I prepared for her, but she didn't really have any answers for me.

She had no ideas on recovering from surgery.
She had no ideas on finding a physical therapist or a myofascial release specialist.
She had no ideas on my episodes of reduced consciousness.
She had no ideas on maintaining bone density after discontinuing Forteo.
She had no suggestions on IBS other than fiber.

So, I guess I thought she would have more to recommend on those ideas, but I definitely should have focused more on EDS, but those really are related to EDS, mostly.

I'm still glad I went. I have a definitive diagnosis. I have another specialist on my side. And I believe I'll be able to count on her if a problem arises.