This is Tess.  

She has a mutation in the USP7 gene. Her primary challenges are global developmental delay, hip dysplasia, and cortical visual impairment.

She's been through multiple rounds of genetic testing, and they've mapped her genome, but we still don't have a clear diagnosis for her. 

We created this page in order to find other people like Tess.  If we can find even one more person with the same mutation or symptoms, it'll be easier for us and Tess's doctors to figure out what is happening to her and how to help her. 

Her symptoms and her specific mutation are set out below. 

To read about her journey so far, check out the blog posts "This Isn't Over" (click here), "Not Giving Up" (click here), and "Answers" (click here).

To listen to podcast episodes about her genetic journey, check out "Label My Kid Please" (click here), "The Dark Night of Uncertainty" (click here), and "The Genetic Mystery Continues" (click here).     

UPDATE 9/12/15:   I have amazing news:  all your sharing about Tess worked. We found a match!

There's a team of geneticists at Baylor in Texas. They're working on USP7, the gene where Tess has a mutation. There are seven patients. All seven have a USP7 disruption and many of the same symptoms as Tess. Last week the geneticists published a paper about their findings. Tess will join the next study as the eighth patient. 

Here's an article about our search and how we found the team in Houston (click here).

Our work isn't done, though. They really need to find more families. Please keep sharing this page. 

If you or someone you know can help us find others like Tess, please contact us. Click here to email us.

And even if you don't know anyone, do us a favor and help get the word out. Click below to share this page on Facebook.  

Media

The Washington Post "What do you do when you have one of the rarest diseases around?," E. Mullin, 2/15/16

The Huffington Post, "How Social Media Helped Diagnose a Girl's Rare Genetic Disorder," R. Gebreyes, 5/19/16

 

Symptoms

global developmental delay

polyhydramnios during pregnancy

microcephaly

eczema

hypotonia (in trunk)

hypertonia (in extremities)

laryngomalacia

hip dysplasia

gastroesophageal reflux disease

abnormal cerebral white matter on MRI

chronic serous otitis media

anisocoria

cortical visual impairment

auditory processing disorder

 

 

 

Identified mutation

From exome sequencing (conducted by GeneDx):

 

heterozygous for the de novo M225I variant in the USP7 gene (NM_003470.2) in exon 6: c.675 G>A, p.M225I.

For the USP7 gene, 100% of the coding region was covered at a minimum of 10x by the XomeD test.

 

To date, no mutations in the USP7 gene have been reported in association with a specific human disease. The USP7 gene plays a possible role in interactions with PTEN and various ubiquitin pathway copy number variants have been reported in association with autism. 

 

If you or someone you know can help us find others like Tess, please contact usClick here to email us.

And even if you don't know anyone, do us a favor and help get the word out. Click below to share this page on Facebook