Classical EDS too?/NIH report

August 20, 2004

I just recieved the paliminary report from NIH. First time anyone mentioned

Classical type. Some important things where left out of this report, but it

gives me a starting point to take to the Dr. They make the heart issue sound

like no big deal, but I'm not comfortable with that. It is the first thing I

want looked at.

So below I'll copy/paste the paliminary report:

********************************************************************

Hello Cindy,

Here is a brief report of your son Dylan Keil's findings. The full report will

take a while, but in the meantime please feel free to share this note with his

physicians so some of the work-up and recommendations we have for him can be

implemented promptly.

Dylan has hypermobile EDS, however, an argument can be made that he may have the

" classical " type, too, since he has the unusual stretch marks with cigarette

paper appearance on his skin. His major issue at the moment is his

musculoskeletal pain, especially his right knee. He also has non-restorative

sleep and autonomic dysfunction as evidenced by orthostatic measurements we did

on him.

The notable findings on Dylan's studies here so far include the following: (this

list is not exhaustive since we don't have all the reports yet)

1) EKG - First degree AV block with bradycardia. This can be seen as a

variant in young people, but it should be followed periodically. He will not get

into trouble unless he develops additional " blocks " in the conducting system of

his heart. It does explain why his heart rate is slow even when he is in pain.

The autonomic dysfunction is the reason that his blood pressure may still be low

when he is in pain.

2) MRI of lumbar spine- Disk bulge at T12-L1 level without evidence of

compromise of the spinal cord. Axial sections were not done. At the location

where there was a previous fracture at the level of L3 transverse process, there

was no evidence of infringement of the nerve root currently. This does not rule

out that a past injury may have occurred to the roots at the time of the

fracture, since there was no radiological study done at the time to evaluate

that except for the XRAY that demonstrated the fracture, the results of which

had not been reported to you.

3) Dylan had increased reflexes on his right arm as compared to the left

arm. The nerves that control this come out of the roots of the c-spine and upper

t-spine. We did not study this part of his spine with the MRI. The nerves also

pass through his shoulders where Dylan is very hypermobile. This is a finding

that should be followed and if other symptoms such as weakness, numbness or

tingling would appear, an MRI of the C-spine would be recommended.

4) The cause of Dylan's knee pain has NOT been studied exhaustively.

Radiological studies of his right hip are certainly indicated since hip

pathology can result in pain referring to the knee. Nerve conduction studies can

also be helpful since he has some sensory deficits over his right thigh based on

his physical exam. If no pathology is found in the hip, a visit to the

neurologist is a good idea.

5) Dylan's bone density in his hips is somewhat low -called

osteopenia-(around -2 z score as compared to an average 20 year old- our machine

does not have standards available for a 17 year old). This may be related to his

lack of weight bearing over the past couple of years. Adequate calcium intake

with Vitamin D is recommended with follow-up studies to be considered at home in

1 year).

6) Dylan has some pain around his sternum that can be from a condition

called " costochondritis " , however, some patients with EDS dislocate their ribs

which can also cause this type of pain. A lateral and AP Chest X-ray to evaluate

this probably not a bad idea. Though I would certainly watch the amount of

radiation he is getting since I know he has had a lot of XRAYs done.

7) The goal should be that Dylan's pain should be adequately controlled so

that he can be weight bearing if at all possible. Severe pain is often

associated with EDS and long-term narcotic use is not uncommon. If it can lead

to an improvement in his functional status, narcotics should not be withheld

based on concern for addiction. Many individuals with EDS have extended to time

they can work and function productively with the use of narcotics. He does seem

very sensitive to the side-effects of narcotics, however, so the goal should be

that adequate relief should be obtained with as few side effects as possible.

He seems to have relief from narcotic induced constipation with the use of

Miralax, and this should be continued while he is on narcotics.

8) Many individuals with EDS have sleep dysfunction and benefit from

pharmacological or other sleep aids (such as the use of alternative medicine

techniques that do not have side effects). Benadryl is not recommended since it

worsens constipation and does not improve the deep part of sleep which has the

most restorative qualities. He did not respond well to 10 mg Ambien while he was

here, but perhaps he would do well with 5 mg or can try another medicine called

Sonata. Medications used should be short acting so that they don't cause daytime

drowsiness or balance problems. Adequate sleep often improves the quality of

life in patients with EDS and their fatigue and pain seems to improve, based on

anectodal reports by patients.

9) He does have scoliosis based on physical exam, although it is mild. I

don't expect it to get much worse, however, being bed-bound will not help here.

10) The ultimate goal is to get Dylan functional. Please let us know if we can

be of any help. Dylan's doctors can contact us if they need any further

information on him or on EDS in general. I will be happy to speak with Dylan's

primary doctor if he would like to call me.

August 20, 2004

In a message dated 8/20/2004 4:23:02 PM Eastern Daylight Time,

c-clark05@... writes:

The ultimate goal is to get Dylan functional. Please let us know if we can be

of any help. Dylan's doctors can contact us if they need any further

information on him or on EDS in general. I will be happy to speak with Dylan's

primary

doctor if he would like to call me.

THis is wonderful that they wuill makethemselves available to speak with the

homehown doctors. The f/u is often where other miss the boat if you know what

I meed.

August 20, 2004

In a message dated 8/20/2004 4:23:02 PM Eastern Daylight Time,

c-clark05@... writes:

The ultimate goal is to get Dylan functional. Please let us know if we can be

of any help. Dylan's doctors can contact us if they need any further

information on him or on EDS in general. I will be happy to speak with Dylan's

primary

doctor if he would like to call me.

THis is wonderful that they wuill makethemselves available to speak with the

homehown doctors. The f/u is often where other miss the boat if you know what

I meed.

August 20, 2004