A mother and tech entrepreneur constructing AI advocate for rare-disease households like hers

A model of this story first appeared within the CNBC Cures publication. Click on right here to enroll.

When Nasha Fitter’s youngest daughter was identified with FOXG1 syndrome in 2017, a uncommon genetic neurodevelopmental dysfunction, she confronted a problem that many within the uncommon illness group know sadly too effectively: little to no public details about the illness or how one can navigate it.

“There was actually nothing being executed,” Fitter stated. “Simply getting day-to-day solutions to my questions and the problems I used to be dealing with was actually unsystematic and random … it was principally going to Fb and hoping somebody would reply my query.”

Fitter was instructed at the moment that there was no remedy for the syndrome, no analysis that was underway, and no actual roadmap for what would possibly come subsequent for her daughter. To deal with that head on, she co-founded the FOXG1 Analysis Basis to work in the direction of a remedy.

However Fitter, a know-how entrepreneur, additionally noticed a chance to advance how uncommon illness sufferers obtain care that would additionally speed up discovering cures.

Working with fellow know-how entrepreneur Farid Vij, the 2 launched Citizen Well being in 2023, aiming to construct what Vij calls an “AI advocate” for the uncommon illness group.

“The only largest factor you can have that can profit you if you’re a affected person with a uncommon illness is an advocate in your nook,” Vij stated.

Usually, as a result of lack of know-how and assets accessible round particular uncommon ailments, that obligation falls on a father or mother or a cherished one.

“1000’s of households have a motive to not take no for a solution, so they may attempt to discover the subsequent physician, they may begin a basis, or they’re going to attempt to grow to be scientists themselves and construct gene remedy applications,” he stated. “However most individuals cannot afford to do this, or they do not know how to do this, and it is actually arduous to democratize that.”

AI and LLMs are quickly altering the healthcare business, and extra individuals are actually turning to those instruments for recommendation and steering with regards to their well being, whether or not that is to raised perceive their circumstances and take a look at outcomes, questions they need to be asking their physician or how they need to search remedy.

Vij stated this growth has been nice for individuals in search of out details about frequent circumstances and basic well being care. However for a lot of uncommon illness sufferers, “there’s been no analysis executed, there aren’t any authorised therapies, and even the highest professional has seen only some sufferers, so there may be nothing for the mannequin to attract from,” he stated. In the end, that is what causes many uncommon illness sufferers and their households to show to Fb and different teams the place they are not even certain if the knowledge they’re receiving is related.

That may be a drawback that Citizen Well being is attempting to unravel, constructing one of many largest uncommon affected person information networks of its variety. The AI-powered platform works with sufferers and uncommon illness advocacy teams to construct communities for various circumstances, utilizing medical information, genetic info and different patient-reported experiences to create a dataset that may be queried by those self same sufferers, their households or clinicians to search out solutions. Citizen Well being additionally collects and organizes information from consenting sufferers, offering entry to researchers in order that they’ll advance drug growth and coverings with out placing additional burden on these uncommon illness communities.

So far, there are greater than 8,000 uncommon illness sufferers on the platform throughout greater than 350 ailments, Citizen Well being stated. As well as, there are greater than 16 pharmaceutical corporations utilizing that information to advance therapies.

Utilizing Citizen Well being is free for sufferers, and so they can opt-in to having their information accessible to researchers – Vij stated 98.3% of sufferers select to share presently. If a researcher needs to entry that information for business functions, they pay Citizen Well being, which additionally shares a share of that with the affected person.

“We have been in a position to scale back timelines to get these therapies to market the place they’re really constructed on what sufferers want by 30%-50%,” Vij stated. “That is our twin mission, to make use of this combination information to assist sufferers day-to-day, after which on the opposite facet use that very same information to drive analysis in order that we will get therapies to market sooner.”

The corporate has raised $44 million since its 2023 launch, together with a $30 million Sequence A funding spherical in August 2025 led by 8VC. Different backers embody Headline, Transformation Capital, and the Chan Zuckerberg Initiative.

Now, Citizen Well being is taking its platform a step additional, introducing agentic AI constructed particularly for uncommon illness sufferers, serving to them schedule appointments, navigate insurance coverage appeals, alerting them when one thing of their medical information warrants consideration, and connecting them with related sufferers and related medical trials.

“In uncommon illness, a father or mother will spend on common 53 hours every week taking care above and past the extraordinary parenting that anybody might need to do,” Vij stated. “So, it is giving a variety of these hours again, but in addition driving a lot better outcomes for sufferers since you’re studying from the collective knowledge of the group.”

Fitter, who not solely is the corporate’s chief enterprise officer however makes use of it to assist together with her daughter’s care, stated some of these instruments and entry may be crucial for uncommon illness sufferers and their households scuffling with discovering the correct care or roadmap to comply with.

“It is a sport changer for the person affected person, getting higher care and making higher selections day-to-day,” she stated. “For our basis, if we did not have Citizen we’d not be dosing our first affected person this 12 months.”

Fitter stated within the case of her basis, the information from Citizen Well being helped steer the endpoint of its therapies from seizures to motion problems, a choice that was made after having the ability to analyze the medical information of different sufferers with FOXG1 syndrome. The muse just lately had its sort D assembly with the FDA and was allowed to make use of affected person pure historical past information primarily based on their medical information because the placebo management arm, which allowed it to skip a section three trial and a placebo, which Fitter stated saved about $80 million.

“The best accomplishment is that the subsequent affected person that’s simply getting identified goes to have such a better life primarily based on the work that we have been in a position to do,” she stated.