Example Study Recommendation Letter #1 (Pediatric) (Page 5 of 8) in pdf

Example Study Recommendation Letter #3 (pediatric)

Hospital/clinic logo here

Dear Undiagnosed Diseases Network,

I wholeheartedly recommend [patient name] to be evaluated by the Undiagnosed Diseases

Network. [He/she] is a [age] year old with persistent myalgias, dyspnea, [description of condition]

of unknown etiology. There are several other family members who are less severely affected with

similar symptoms, suggesting a genetic etiology.

I recently met [patient name] to evaluate him for endocrinologic involvement of [his/her]

presentation. While I did not find any endocrine pathology, I wanted to take the opportunity to

refer him to the UDN. The notes from [his/her] neurologist Dr. [name] will have more details on

his history, but I will describe the summary of what I learned.

[patient name] currently presents with [symptoms]. [Patient name]’s family reports that [patient

name]’s symptoms initially began at [age] years of age when he began complaining of leg pain out

of proportion to those expected for his age. He was evaluated at [age] years of age by a

rheumatologist at [hospital], and then by Neurology where a deltoid biopsy was performed and

reportedly normal. Additionally, other genetic testing for different forms of [condition] was

negative. [He/she] was then referred to Dr. [name] at [hospital]. An EMG was normal, but a

quadriceps biopsy showed a predominance of [finding] of unclear significance.

[Patient name]’s symptoms have all progressed over time. [He/she] complains of significant

exercise intolerance and weakness in all muscles that have been slowly worsening over time.

[His/her] weakness is particularly extreme after activity. Additionally, [patient name] has pain in

[his/her] legs, around [his/her] neck, and lower back that is present all the time, although also

worsened with activity. [He/she] has seen some improvement in the pain, especially in [area],

after starting [medication]. [He/she] occasionally tries [medication] without much relief. The pain

is particularly bad [time of day] whereas [his/her] other symptoms seem to be more extreme [time

of day]. [His/her] [parent] notes that [he/she] also has some ptosis and [symptom] on several

mornings when [he/she] wakes up that sometimes persists later in the day. Initially, this was one-

sided, predominantly on the [side], but now appears to be bilateral. [Patient name] walks when

[he/she] is at home but uses a wheelchair for transportation of further distances. [He/she] also

appears to have [symptoms]. [His/her] motor strength and reflexes, however, are typically normal

when [he/she] is evaluated in the neuromuscular clinic, suggesting that [patient name] has more

trouble with fatigue than baseline muscle weakness. [He/she] also has a normal serum CK level.

[He/she] has had evaluations for [syndromes] that were negative. [He/she] also had an empiric

Letter #3, Page 1

Example Study Recommendation Letter #1 (Pediatric) Page 5