The patient was diagnosed with a heart defect (tetralogy of Fallot with pulmonary atresia) before she was born, which was repaired after birth. She was also found to have problems with the connection between her brain and spinal cord (Chiari I malformation) and the spinal cord itself (tethered cord). She … read more
When the patient was in his early 20s, he started having episodes that involved shaking, vacant staring, and “shutting down” where he could not respond with any words other than “yes,” even when he wanted to say no. These episodes would last about an hour. Afterwards he would be very … read more
When the patient was 20 months old, her mother noticed that she was large for her age. Since then, her height and weight have continued to increase despite regular physical activity and a healthy diet (overgrowth). At age 8, she started to have signs of increased androgen secretion (premature adrenarche) … read more
Undiagnosed Diseases Network on Twitter
ICYMI: the first issue of the UDN Participant Engagement and Empowerment Resource (PEER) newsletter is now available
PEER - UDN
Description The UDN Participant Engagement and Empowerment Resource (PEER) is made up of participants and family members who have participated in the ...
undiagnosed.hms.harvard.edu
Does this patient sound like someone you know? #RareDisease #undiagnosed
Participant 022 - UDN
undiagnosed.hms.harvard.edu
@UDNconnect at @NIH is now accepting applications for Phase II of the program. More info here!
Reminiscing about #NSGC2016 in beautiful Seattle, WA. We couldn't be more excited for #NSGC2017 next month. Come see us at booth 526! #tbt
New UDN paper from @bretbostwick & colleagues on de novo missense variants in the CDK13 gene: cc: @bcmhouston
Looking for similar patients: 28 year old male with an #undiagnosed neurodegenerative condition #RareDisease
Undiagnosed Diseases Network (UDN)- Participant 021
Undiagnosed male, age 28 with a neurodegenerative condition involving weakness, seizures, tremors, & slurred speech. Looking for similar patients!
undiagnosed.hms.harvard.edu
The #raredisease diagnostic journey is long. Fortunately, new online resources available. Check out @UDNconnect and @MyGene2 #Dazzle4Rare
ICYMI: learn about the history of & how it's used in the UDN on the @GeneticsSociety blog https://t.co/218uIPgf20 https://t.co/A5QRssBPJR
Just added a new #USP7 family to our patient group, thanks to @UDNconnect in NC! Thanks Rebecca Spillman & @DukeHealth! @FoundationUSP7
Did you know? @hudsonalpha is part of the @UDNConnect. Learn more about its mission to accelerate patient diagnoses
https://t.co/XVg8VbhtXh
New UDN participant page: 4 year old boy w/ dev delay, seizures, delayed myelination & other symptoms https://t.co/w4w1RCpFe9 #RareDisease
Our friends at @GlobalGenes have put together a great agenda for #2017GGsummit - learn more & register #RareDisease
Delighted to share the inaugural issue of the UDN PEER newsletter! Please RT & help spread the word #RareDisease https://t.co/rdt6n3TFzU
Help us find other patients with clinical features of #DiGeorge syndrome & a variant in the #TBX2 gene #RareDisease
Undiagnosed Diseases Network (UDN)- Participant 001 (TBX2)
Male, age 8 with features of DiGeorge syndrome. Researchers are investigating a change in the TBX2 gene to see if it is causing his symptoms.
undiagnosed.hms.harvard.edu
Explore the full list of #raredisease communities on @RareConnect! https://t.co/g9KNXBvVUM
Undiagnosed Diseases Network on Facebook
New research from the UDN site at Baylor College of Medicine on de novo missense variants in the CDK13 gene
genomemedicine.biomedcentral.com
De novo missense variants in CDK13 have been described as the cause of syndromic congenital heart defects in seven individuals ascertained from a large congenital cardiovascular malformations cohort. ...
Undiagnosed Diseases Network (UDN)- Participant 021
undiagnosed.hms.harvard.edu
Undiagnosed male, age 28 with a neurodegenerative condition involving weakness, seizures, tremors, & slurred speech. Looking for similar patients!We just posted a new participant page! Participant 029 is a little boy with a history of development delay, seizures, and abnormal MRI findings. Click the photo below to learn more.
Undiagnosed Diseases Network (UDN)- Participant 029
undiagnosed.hms.harvard.edu
Male, age 4 w/ infantile spasms, abnormal MRI findings (delayed myelination, thin corpus callosum), & developmental delay. Looking for similar patients!DNM1 Encephapopathy or similar perhaps
There is still time to register for the 2017 Global Genes RARE Patient Advocacy Summit this September in Irvine, CA. The summit will bring together hundreds of rare disease stakeholders, including several UDN researchers, for two days of education, support, growth, and advocacy. Click on the photo below to learn more.
2017 RARE Patient Advocacy Summit
globalgenes.cvent.com
Register for the 2017 RARE Patient Advocacy Summit! As always, Global Genes has worked w/ the Rare Disease Community to put together new & relevant subject matter. Register now to join hundreds of oth...We are delighted to share the first issue of the UDN Participant Engagement and Empowerment Resource (PEER) newsletter! The PEER, founded in January 2017, is made up of participants and family members who have participated in the UDN.
This issue includes "Our Life with Quinn" by PEER member Jamie Mills and highlights research being done at the UDN Model Organisms Screening Center.
To view or download the newsletter, go to undiagnosed.hms.harvard.edu/peer/
Awesome read - so proud of all 4 of you and the support network you have built!
Only thing missing from this pic is the man of the hour, Quinn!
We are looking for other patients with features of DiGeorge syndrome, no chromosome 22 deletion, and a mutation in the TBX2 gene. Click the photo below to learn more.
Undiagnosed Diseases Network (UDN)- Participant 001 (TBX2)
undiagnosed.hms.harvard.edu
Male, age 8 with features of DiGeorge syndrome. Researchers are investigating a change in the TBX2 gene to see if it is causing his symptoms.Those are some really cute kids. ;)
Yes they are.
Martina Leal
As another summer week winds down, we want to take a moment to thank everyone that has liked or followed our Facebook page. Whether you've been here from the start or just recently connected with us, THANK YOU for supporting our work and helping us spread the word.
For those of you just finding out about us, did you know the UDN is actually an expansion of the NIH Undiagnosed Diseases Program (UDP)? Our colleagues at the UDP have been seeing undiagnosed patients at The NIH Clinical Center in Bethesda, Maryland since 2008. Visit the link below to learn more about the history of the UDP.
www.genome.gov/27543155/udp-background/
Undiagnosed Diseases Network (UDN)- Participant 028
undiagnosed.hms.harvard.edu
Female, age 8 with hypoglycemia and developmental delay, as well as a history of birth defects. Looking for similar patients!Krysten Beasley
New research from the UDN sites at Baylor College of Medicine on clinically severe CACNA1A gene variants
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially
journals.plos.org
Author summary Calcium channels control the levels of calcium within cells and are important in human health. Indeed, groups of patients with disorders of balance known as ataxia have been found to ha...One of the first patients featured on our Participant Pages has been diagnosed with Shashi-Pena syndrome, a new genetic condition involving changes in the ASXL2 gene. Click on the photo below to learn more about this new condition.
Undiagnosed Diseases Network (UDN)- Participant 005 (ASXL2)
undiagnosed.hms.harvard.edu
Male, age 8 with macrosomia, a glabellar hemangioma, and learning difficulties caused by a change in the ASXL2 gene (Shashi-Pena syndrome).How do we get to participate in studies like this?
"…after undergoing genetic testing over the past year we are still without a diagnosis. It has become a situation of waiting to see what symptom manifests next to see if it yields any additional clues. I would be honored and eternally grateful to be included in what I believe is the best opportunity to finally know what exactly this is that has changed my life and my family’s life forever."
ojrd.biomedcentral.com
Patients’ stories of their illnesses help bridge the divide between patients and providers, facilitating more humane medical care. Illness narratives have been classified into three types: restituti...As a former undiagnosed Patient who was went undiagnosed until I was 21 despite actually virtually all the typical symptoms for my disorder presenting very early on, a slew of genetic testing was done many yrs prior to my MPS I diagnosis (but the tests did not include the very specific tests for MPS I) and many, many Drs missed it. Over the yrs prior to my (then new) ACHD Cardiologist and Lung dr figuring it out many other disorders where tested for and ruled out. I do not look outwardly like a Dr. might expect an MPS I Patient to look which likelu explains why my disorder was missed. Early diagnosis makes such a huge difference in managing symptoms, preventing issues and long term quality of life. I am glad to see more awareness is being done around undiagnosed, complex Pts!
I am stuck in that "I don't know/I can't help you" void. I have minor flags and obvious issues yet no answers. I am quickly getting worse. The daily pain is unbearable! Yet no answers. I don't want pain meds, I want help.
I'm I'm the same boat here. Kalee, same thing you have stated above. It's really diminishing, my quality of life. That of my kids often as well. I'm becoming more and immobile without excruciating pain. Endless diagnoses, labs that are HIGH, high normals, or LOW, low normals, but none that "correspond to each other, for blatant answers. Unbearable indeed, :'(. Really, a bad situation all around.
Nilda Rodriguez
Yolanda Mays
Yes....this is a big issue these days...😣😐
We are posting patient profiles on our website to try and connect patients with similar conditions. Click any photo below to learn more.
“Then our genetic counselor said, ‘Have you heard of the Undiagnosed Diseases Network at Duke?’"
We love a lot of things about our updated website, but the search box may be our favorite part! Looking for a specific condition, gene, or symptom? Try typing it into the search box in the upper right hand corner to see if we have a matching participant page, gene page, or publication.
undiagnosed.hms.harvard.edu
Love it! We'll share it with our online community for Undiagnosed conditions.
Is there someone i can send a copy of my sons pathology to? Seeking info and havent gotten anywhere with drs in australia?
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