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. They mapped her genome. And we created this page in order to find other people like Tess.  

It worked! In August 2015, this page got shared all over the internet. Somebody saw it on Facebook. They turned around and shared it on Reddit. And through Reddit, we discovered that a team of geneticists at Baylor in Houston, Texas was working on USP7, the gene where Tess has a mutation. There were seven other patients. (Did this blow our minds? Yep.)

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

All seven patients had a USP7 disruption and many of the same symptoms as Tess. Those geneticists published a paper about their findings. Tess joined the next study as the eighth patient. 

Because of all the sharing of this very page--and this podcast (click here)--now we're up to 21 people worldwide. One's in Canada. Two are in France.

But we aren't done yet.

We need to find more people.   

The more people we find with the same mutation or symptoms, the easier it'll be for us and Tess's doctors to figure out what is happening to her and how to help her. 

There might even be something we can do to help her and the other patients--early experiments suggest that the disruption in Tess's cells may be reversible. 

Tess's symptoms and her specific mutation are set out below (after all the media links). 

Please keep sharing this page. 

To read about Tess's 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).     

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

                                                                               WCSH6-NBC, Portland, ME, "Rare but not alone," V. Leigh, 7/27/17

                                                                               WCSH6-NBC, Portland, ME, "Rare but not alone," V. Leigh, 7/27/17

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

autism spectrum disorder

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

Other common USP7 symptoms (these haven't been confirmed in Tess):  epilepsy, joint contractures, hypogonadism, and behavior problems (such as aggressive behavior) 

 

 

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.

 

Mutations in the USP7 gene have been reported in association with a specific human disease. It's so rare that it doesn't have a name yet. Here's a scientific paper all about it: (click here

 

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