Day 1 – Preparing for a Logistical Nightmare

Today we had our first appointments.  We left the Children’s Inn before 7 am and walked to the building with our appointments.  On the agenda:  vitals, protocol and paperwork, intake interview (Rick), rehab (Eddie), say hello to Dr. Pam, craniofacial, and rehab (Rick).

Today’s discoveries:

  • Eddie’s physiatry (learned this word today… means the area of medicine devoted to rehab….aren’t you impressed?) visit:  He has calcaneal valgas.  What is this?  I have no idea, but Dr. Perry (physiatrist) was able to see this by looking at the achilles tendon that runs in the back of his foot and heel.  Between this, flat feet, and pronating ankles, much of Eddie’s foot, knee, ankle, and hip pain can probably be attributed to this.  She recommends he gets semirigid orthotics with medial posting.  Additionally, Dr. Perry believes Eddie has patella femoral syndrome which is due to underdevelopment of the quadriceps.  When he stands straight, his knees are naturally hyperextended.  This prevents his quads from working at all.  Therefore, his knees are not tracking correctly.  The key to preventing long term damage is strengthening his quads to hold his knee caps in place.  Dr. Perry also sees some curvature in Eddie’s spine.  She recommends scoliosis spine xrays to see the degree of the curve and for a baseline.  Dr. Perry left Eddie with a number of exercises to help him strengthen his muscles.  As she explained, when you have someone with extreme flexibility as is the case with a number of connective tissue disorders, it is important that they have very strong muscles to stabilize their bodies.
  • Family craniofacial visit — Eddie and Rick have LDS type 1 but do not show most of the pronounced craniofacial characteristics of this.  In fact, they seem to be a bit of an enigma according to the doctors.  However, there were a few things seen — they both have mildly recessed chins.  This can cause misalignment of their jaw.  However, it appears that theirs is mild.  She recommends Eddie get a consultation with an orthodontist for another opinion.  She also noticed Eddie has mildly deep set and widely spaced eyes, but again, it is much milder of a degree than what has been seen in other LDS1 patients.  Rick was found to have mildly deep set eyes as well as ptosis — which is hooded eyelids.  She said his ptosis is significant enough that it could impair some of his vision so he may want to follow up regarding it.  Rick also has significant grinding in his jaw which she suspects is due to TMJ and arthritic changes.  She wants Eddie and Rick to be seen by the NIH dentist this week (not quite sure where we will fit that into an already packed schedule) for further evaluations.  She also plans on taking 3D Cone CT scans of all three of us this week.

    Strike a pose! Craniofacial visits include lots of interesting pictures.
    Strike a pose! Craniofacial visits include lots of interesting pictures.
  • Rick’s physiatry visit — Rick went on to this appointment while Eddie and I finished up the craniofacial exams.  As most of you know, Rick is one of few words so I don’t know all that was discussed in that appointment.  However, I do know Dr. Perry also recommended orthotics for him.

And then the rest of the day was spent focused on the logistical nightmare that is getting from NIH in Bethesda to Hopkins in Baltimore for all the cardio appointments on Tuesday.  Getting a cab is around $100, but trying to use public transportation requires going from Bethesda to DC and DC to Baltimore — and getting to Baltimore before 8:30.  Ugh!  I spent last night scouring over metro maps, train maps, bus maps, and a million other maps.  There is no good option here.  Eventually, we decided on just paying for a cab to take us to Hopkins and then managing our own version of planes, trains, and automobiles to return.  Wish us luck.


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