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Below are links to all the publically availble patient stories, review articles, or other jourmal publications that I have used to inform my weekly case reports. Happy reading!
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Case Report #1:
Late Onet Tay Sachs (LOTS)

Week of 7/10/2023		Patient Story
https://patientworthy.com/2022/02/21/living-fulfilling-life-lots-late-onset-taysachs-pt1/
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Patient Storyhttps://abcnews.go.com/Health/gene-therapy-sheep-bring-hope-adults-tay-sachs/story?id=13588772
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Gene Reviewshttps://www.ncbi.nlm.nih.gov/books/NBK1218/
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LOTS review article https://www.nature.com/articles/gim200521
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LOTS Case report https://pn.bmj.com/content/17/5/396
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Case Report #2:
Niemann Pick Type C (NPC)

Week of 7/17/2023		Patient Storyhttps://www.cnn.com/2014/11/21/health/hempels-genetic-disorder-niemann-pick/index.html
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Gene Reviewshttps://www.ncbi.nlm.nih.gov/books/NBK1296/
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NPC pathogenesis articlehttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC2662713/
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Miglustat in NPChttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6094874/pdf/13023_2018_Article_844.pdf
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Case Report #3:
GM1 Gangliosidosis

Week of 7/24/2023		Patient Storyhttps://www.washingtonpost.com/local/their-three-children-have-a-fatal-disease-and-they-refused-to-let-the-coronavirus-take-away-their-only-chance-at-saving-them/2020/04/24/87124d46-865b-11ea-ae26-989cfce1c7c7_story.html
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Patient Story
https://nihrecord.nih.gov/2022/08/05/three-young-siblings-participate-first-human-gene-therapy-trial
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Gene Reviewshttps://www.ncbi.nlm.nih.gov/books/NBK164500/
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GM1 Review article https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8446533/
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Case Report #4:
Proteus Syndrome

Week of 7/31/2023		Patient Story
https://www.washingtonpost.com/news/recruiting-insider/wp/2017/05/25/a-rare-birth-defect-also-gave-him-a-gift-a-nearly-impossible-to-hit-curveball/
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Patient Storyhttps://www.youtube.com/watch?v=mUxZgJ_uRWQ
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Gene Reviewshttps://www.ncbi.nlm.nih.gov/books/NBK99495/
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https://www.nature.com/articles/5201638
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Case Report #5:
VEXAS Syndrome

Week of 8/7/2023		vexas foundationhttps://vexas.org
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VEXAS review articlehttps://jamanetwork.com/journals/jama/fullarticle/2800661
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patient story, CNNhttps://www.cnn.com/2023/01/24/health/vexas-syndrome-prevalence-study-wellness/index.html
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recent review on VEXAshttps://journals.lww.com/co-hematology/Fulltext/2023/03000/VEXAS__where_do_we_stand_2_years_later_.7.aspx
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NIH articlehttps://www.niams.nih.gov/labs/grayson-lab/vexas
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Case Report #6:
Episodic Ataxia type II
Week of 8/14		overview of EA2https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898315/
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Darcy's Storyhttps://www.rarediseaseday.org/heroes/my-life-with-episodic-ataxia/
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Review of EA2https://link.springer.com/article/10.1007/s00415-021-10555-0
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Cacna1a orghttps://www.cacna1a.org/cacna1a-related-disorders
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Case Report #7:
Uniparental Isodisomy
Week of 8/21/2023		Case study of UPiDhttps://pubmed.ncbi.nlm.nih.gov/34277935/
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uniparental disomy overviewhttps://www.sciencedirect.com/topics/neuroscience/uniparental-disomy
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Startgardt syndrome NIHhttps://www.nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/stargardt-disease#:~:text=Stargardt%20disease%20is%20a%20rare,vision%20until%20they%27re%20adults.
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early onset parkinsonismhttps://www.ncbi.nlm.nih.gov/medgen/344049
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the uniparental disomieshttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3111049/
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Case Report #8:
ANTI-HMGCR necrotizing
myopathy
Week of 8/28/2023		anti HMGCR and osytershttps://pubmed.ncbi.nlm.nih.gov/35606030/
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anti HMGCR case reporthttps://n.neurology.org/content/100/17_Supplement_2/2801
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Anti HMGCR overviewhttps://www.nejm.org/doi/10.1056/NEJMra1515161
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Case Report #9:
XMEN Disease
Week of 9/4/2023		XMEN brothers' story
https://www.michiganmedicine.org/health-lab/superhero-brothers-bonded-rare-xmen-disease
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XMEN brothers' story
https://www.wtol.com/article/news/michigan-siblings-diagnosed-with-extremely-rare-xmen-disease/512-04732d90-7e73-44b0-9d10-9cac5ee4b2ac
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XMEN reviewhttps://www.jci.org/articles/view/131116
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News story on XMEN
brotehers 		https://www.youtube.com/watch?v=s-RodzdYXwE
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review of XMEN disease https://pubmed.ncbi.nlm.nih.gov/32451662/
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Case Report #10:
Dentatorubral-Pallidoluysian Atrophy
(DRPLA)
Week of 9/11/2023		Kuri's story https://www.youtube.com/@iwantsavemydaughter
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Review of DRPLAhttps://www.ncbi.nlm.nih.gov/books/NBK1491/
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Natural history of DRPLAhttps://link.springer.com/article/10.1007/s00415-020-10218-6
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DRPLA outside of Japanhttps://www.sciencedirect.com/science/article/abs/pii/S135380202100359X
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Case Report #11:
Adult Polyglcuosan
Body Disease
(APBD)
Week of 9/18/2023		APBD gene reviewshttps://www.ncbi.nlm.nih.gov/books/NBK5300/
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Patient Storyhttps://www.youtube.com/watch?v=HvfWWDwfDsU
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overview of APBD
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4329926/#:~:text=Adult%20polyglucosan%20body%20disease%20(APBD,branching%20enzyme%20(GBE)%20deficiency
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GBE1 mutations in a familyhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC9679404/
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APBD research foundationhttps://www.apbdrf.org
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Case Report #12:
Atypical hemplytic
Uremic syndrome
(aHUS)
Week of 9/25//2023
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James+Elise's story
https://www.tennessean.com/story/life/health/2018/05/13/ahus-disease-atypical-hemolytic-uremic-syndrome-cameron-james/494417002/
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 aHUS overviewhttps://rarediseases.org/rare-diseases/atypical-hemolytic-uremic-syndrome/
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AHUS epidemiologyhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7075343/
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Review article on aHUS https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6365154/
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aHUS non profit https://www.ahusallianceaction.org/ahus-awareness-day-rare-disease-day/
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Case Report #13:
Atypical hemplytic
Uremic syndrome
(aHUS)
Week of 10/2/2023		Jarrods Storyhttps://www.youtube.com/watch?v=9Sm6VzX2JLk
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UCONN health GSD1a
https://today.uconn.edu/2019/09/worlds-first-gene-therapy-treatment-glycogen-storage-disease-produces-remarkable-results/
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GSD1a genereviewshttps://www.ncbi.nlm.nih.gov/books/NBK1312/
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Review article on GSD1ahttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC8621617/
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Case Report #14:
CADASIL
Week of 10/9/2023		CADASIL Storyhttps://www.youtube.com/watch?v=uf1n31FLgVA
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CADASIL Genereviewshttps://www.ncbi.nlm.nih.gov/books/NBK1500/
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CADASIL review article https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8450197/
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Case Report #15:
Kleefstra Syndrome
Week of 11/6/2023		Patient Storyhttps://www.youtube.com/watch?v=TURqc4yoDYQ
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Patient story #2https://www.youtube.com/watch?v=eRGZRmv6oJM
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Kleefstra genereviewshttps://www.ncbi.nlm.nih.gov/books/NBK47079/#kleefstra.Clinical_Description
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Kleefstra syndrome charityhttps://www.kleefstrasyndrome.org
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Rare disease interview
Triple A syndrome
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