Example Study Recommendation Letter #1 (Pediatric) printable pdf download

Example Study Recommendation Letter #1 (pediatric)

Hospital/clinic logo here

To Whom it May Concern:

We are writing to you to request consideration of siblings, [patient names], for enrollment in

the Undiagnosed Diseases Network (UDN). [Patient names] are followed by multiple specialists

at [hospital name]. They are also followed by local pediatrician [physician name] for routine

pediatric care.

[Patient name] is now a [age] year old [gender] with a history of dysmorphic features, failure to

thrive, and hepatomegaly of unknown origin. Due to cryptogenic cirrhosis, liver transplant was

performed at [age] months of age. Pathology results of [patient name]’s previous liver biopsy

was suspicious for a [condition], specifically [specific condition], however, molecular testing for

the [gene name] was negative. [Condition] enzyme screening and [condition] screen for the

explanted liver sample came back in the low ranges, but not in the deficiency range usually seen.

Additional extensive workup was unrevealing.

[Patient name] is now a [age] month old [gender] noted prenatally to have holoprosencephaly

via fetal MRI at [time] weeks gestation. Brain MRI performed on DOL [time] was consistent with

[description of MRI]. [He/she] was admitted at [age] months of life for evaluation of liver

steatosis, microcephaly, and failure to thrive. At [age] months of age, [patient name] was

identified to have new onset hepatomegaly in [month] with vomiting. A liver biopsy from [date]

identified [results of liver biopsy]. Due to persistent FTT, G tube was placed in [month] with

subsequent fungal peritonitis, now post-[time] day course of [medication]. [Patient name]

continues to have daily emesis. [Patient name] is currently evaluated for liver transplantation

(persistently elevated transaminases and synthetic dysfunction).

Of note, both siblings have a history of IUGR with failure to thrive, improved for [patient name]

following liver transplantation. [Patient name] has a history of developmental delays, making

significant progress with therapies, and now within normal limits. [Patient name] continues to

have developmental delays and facial features similar to [his/her] [brother/sister] during

infancy. Given the similarities in the presentation of these two siblings with an unremarkable

family history (parents are not consanguineous), whole exome sequencing was obtained for

[patient name] and identified a heterozygous mutation in the [gene name], which in the

homozygous state is associated with [condition]. Subsequent deletion/duplication testing via

the MitoMet oligonucleotide array returned as normal. Mitochondrial genome testing via

Letter #1, Page 1

Example Study Recommendation Letter #1 (Pediatric)