Example Study Recommendation Letter #1 (Pediatric) (Page 7 of 8) in pdf

Example Study Recommendation Letter #4 (adult)

Hospital/clinic logo here

Dear Undiagnosed Diseases Network Team,

I propose my patient [name] for your special protocol in the Undiagnosed Diseases Network.

When I learned of your protocol, I immediately thought of [him/her]. [He/she] seems an ideal

participant in your program.

Symptoms & History: [Name] suffers from an excruciating and bizarre illness that has

devastated [his/her] life and gone undiagnosed for [number] years despite exhaustive workups

at [institution] and here at [institution]. [He/she] has consulted over 100 medical specialists of

whom many are at the pinnacle of their fields. [name] is a pleasant, intelligent [man/woman]

and a motivated, cooperative patient.

[Name] is a fair-skinned [age]-year old [man/woman] who has been disabled for the last

[number] of years by burning facial pain and flushing of elusive etiology. [His/her] entire

face and ears are involved; they are inflamed, red, and hot to the touch.

Onset was rapid and for no apparent reason. Prior to the illness, [he/she] was in

excellent health, a parent with a healthy child and successful professional who worked

full-time.

The facial pain requires [name] to remain nearly all the time in a cold room with a fan

blowing directly on [his/her] face. [more explanation]

While [name]’s face and ears are chronically hot, the rest of [his/her] body [description].

[Name] has anhidrosis over 90% of [his/her] body. However, sweating that cannot be

elicited by heat can sometimes be elicited with [system] stimulation.

[He/she] developed [eye condition] in [his/her] [age], since remedied surgically.

Other major symptoms include: [additional symptoms]

Diagnostics & Etiology: [Name]’s case is a medical mystery cutting across many organ

systems/braches of medicine. One might describe it functionally as a putative sympathetic

neurologic disorder of the thermoregulatory system that especially affects the vasculature and

skin of the head. The origin of the proposed neuropathy could be genetic, autoimmune,

infectious, toxicological, or some combination.

There are a number of tantalizing but unexplained clues including:

1. [He/she] is a carrier of one copy of the gene for the rare recessive genetic disease

[condition], of which [his/her] relative died. But the [condition] experts have never seen

Letter #4, Page 1

Example Study Recommendation Letter #1 (Pediatric) Page 7