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UPF3B

For families

You are not alone.

If your family has just received a UPF3B diagnosis, or you suspect a genetic cause behind a loved one's intellectual disability, this page is for you. Below are resources, in plain language, and a way to connect with other families who understand.

The Simons Searchlight UPF3B Gene Guide is a free, in-depth clinical resource for families, teachers, and doctors, available in multiple languages. It is the best place to begin. Visit simonssearchlight.org/gene-guide/upf3b
Understanding your diagnosis: a family guide

What UPF3B-related disorder means, what to expect, and questions to ask your care team. Planned in English, Spanish, and Hindi.

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Family stories

Relatives describing the years before diagnosis, what testing was like, and what changed afterwards. In their own words. Video interviews planned for 2027.

Read stories
Join the Simons Searchlight registry

A free international research registry for UPF3B and 180 or more related conditions. Optional, confidential, open to families worldwide.

Learn & enroll
Navigating school and care services

A starting guide to school accommodations, disability services, and support programs in Texas and internationally.

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Bring this to your doctor: a one-page summary

A printable page you can hand your pediatrician to start the conversation about genetic testing, including what insurance typically covers.

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Connect with our community

Sign up for our family newsletter or reach out directly. We personally respond to every message from a newly diagnosed family.

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Managing a diagnosis.

There is no medicine designed specifically to treat UPF3B-related disorder, but a diagnosis still matters. It opens the door to the right specialists and therapies, started as early as possible, and often guides school accommodations such as an Individualized Education Program (IEP). A genetic counselor can also discuss what a diagnosis means for other relatives and for family planning.

A note on privacy. Everything you share with us, and any decision about joining a research registry, is entirely your choice. We never share your information without your explicit consent.
Know a family who needs this? Most families find us because another parent sent them a link, not through a search engine.
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Common questions

The questions families ask first.

Is this the same as autism?
Not exactly. Some children with UPF3B-related disorder also have autism, but the underlying cause is a specific genetic change rather than autism itself. Knowing the specific cause can open up different care options.
Will insurance cover genetic testing?
In many cases, yes. Texas Medicaid and most private insurance plans cover comprehensive genetic testing, such as exome sequencing, when a child has unexplained developmental delay or intellectual disability. Ask your child's doctor or genetics clinic to check your specific coverage.
We do not have a diagnosis yet. Can we still connect?
Yes. Families who suspect a genetic cause but do not yet have a confirmed diagnosis are welcome to reach out. We can help point you toward genetics resources near you.
Did I cause this by something I did during pregnancy?
No. Genetic changes like this happen on their own and are not caused by anything a parent did or did not do.
What happens after we get a diagnosis?
A diagnosis does not come with a single treatment, but it opens the door to the right specialists, therapies, school accommodations, and a community of other families who understand. Your genetic counselor can also discuss what the result means for relatives.

Words you may hear in clinic.

VariantA change in the spelling of a gene. Some cause no problems at all, and some, like this one, cause a condition.
CarrierSomeone who has a changed gene copy but does not show symptoms, often because they have a second working copy.
ProbandThe first person in a family to be diagnosed. Testing of relatives starts from this person.
De novoA variant that appeared new in a child rather than being inherited from either parent.
Chromosomal microarrayA test that looks for missing or extra chunks of chromosomes. Often the first genetic test ordered.
Exome sequencingA test that reads the protein-coding letters of your genes. This is the test that finds UPF3B.
PenetranceHow likely someone with a variant is to actually show symptoms. Not everyone is affected the same way.
X-linkedThe gene sits on the X chromosome, which is why this condition affects boys and girls differently.

AskHave a question we did not cover? We reply to every family who reaches out.

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Last updated September 2026.

Family stories

"It doesn't let the anxiety go,
but it gives relief."

Shared anonymously by a woman in a family affected by UPF3B-related disorder, published in her own words. She belongs to the same extended family described in Our story, a generation further down.

Tell us whatever you want to about yourself.

I am a young member of this family living with this condition.

How did you first learn that this condition runs in your family?

I grew up with the members, and then my mother told me about this.

How did you decide whether to be tested? What did you weigh?

I decided to be tested to know what actually is the cause of this genetic condition.

What was it like waiting for the result?

During the waiting time, I was very apprehensive about what would be the result. What if I am tested positive, what would be the chances it is carried to my future generations.

How did you feel when you learned your result?

I was very relieved that I tested negative, but at the same time was very upset as my sister tested positive. She has a baby boy. Whenever I see him, the result comes to my mind, as if how will he turn out. How my sister will deal with this.

Who have you told, and how did you decide whom to tell?

I have told my family, as I can trust only them regarding this, because other people neither understand nor do they respect the truth.

If this has affected your thinking about marriage, what has that been like?

Yes, it has affected me a lot. Before the thought of marriage it always comes to my mind that how I would be able to communicate this to my husband and the new family. Would they ever understand?

If this has affected your thinking about having children, what has that been like?

Yes, it has always affected me about having children. Before testing I was always concerned what if it is present in my children. How would I manage that? I have seen my family members dealing with this very nearly, and how much it affects an individual.

Has anyone treated you differently because of this?

Not differently, but yes, we have tried to always conceal it, trying to avoid such conversations.

What support did you have? What do you wish you had?

Not much support from anyone, as nobody knew what it is, why it is. But yes, the family and we each other understand the situation.

What would you say to another woman in your family who is deciding whether to be tested?

I would say to get tested. If there is a way to know whether we are carrying the gene or not, it is good to know beforehand. It doesn't let the anxiety go, but it gives relief.

What do you wish doctors understood about what this is like?

I wish doctors understood why this is happening, and would have suggested to the parents what could be the future of such individuals, or how they can be improved.

Is there anything else you want to say?

I would say that this study was very important for us and our family and the future generations. I hope it goes well and we shall get to know how to treat it too.

ShareHas this condition touched your family? Your story could be the one another family needs.

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Last updated September 2026.