June 30, 2026: The Day Pippa Got Her Diagnosis

For quite a while, Mollie and Ethan had known that Pippa was developing differently.

She was delayed in reaching some of her milestones, and although they were already pursuing therapies, asking questions and following every lead they could, there was still always that hope that perhaps she was simply doing things in her own time.

Maybe she would catch up.

There was no diagnosis and no clear explanation for why some things seemed so much harder for her.

They decided to pursue genetic testing in the hope that it might finally give them some answers.

On June 30, 2026, it did.

Pippa was diagnosed with Pitt-Hopkins Syndrome.

As her Lelly, I don't think I will ever forget that day.

For Mollie and Ethan, finally getting an answer brought two very different feelings at once. There was heartbreak in learning that Pippa's delays were caused by a lifelong genetic condition. But there was also relief in finally understanding why.

There was finally an explanation for what they had been seeing.

And with an explanation came something they could learn about, understand and use to help guide the decisions they make for Pippa.

So, what actually is Pitt-Hopkins Syndrome?

In simple terms, Pitt-Hopkins is a rare genetic condition that affects the way the brain and nervous system develop.

It is caused by a change in a gene called TCF4.

Genes are essentially sets of instructions that tell the body how to grow and function. TCF4 is particularly important in brain development. In someone with Pitt-Hopkins, one copy of that gene is not giving the body the full set of instructions it should.

That can affect development in a number of different ways.

Most people with Pitt-Hopkins have significant developmental delays. Sitting, crawling, standing and walking may happen much later than usual. Speech is often particularly affected, and some people may speak very little or not use spoken language at all, although they can still learn to communicate in many other ways.

Pitt-Hopkins can also be associated with things such as low muscle tone, coordination difficulties, unusual breathing patterns, seizures, digestive problems and sleep issues.

But one of the most important things Mollie and Ethan have learned very quickly is that there is no single version of Pitt-Hopkins.

People can be affected very differently.

A diagnosis can explain why Pippa is developing differently, but it cannot tell anyone exactly what she will or won't be able to do as she grows.

Pippa's particular genetic change

Pippa's exact genetic change is:

TCF4 c.469C>T (p.Arg157Ter), in exon 7.

That sounds incredibly technical, but the basic idea is fairly simple.

Genes are made up of different sections. Pippa's change occurs in a section called exon 7, relatively early in the TCF4 gene.

Her particular change creates what is known as a stop signal. Essentially, the genetic instructions end earlier than they are supposed to, so the body cannot make the TCF4 protein in the usual way.

What makes Pippa's result especially interesting is how unusual her exact genetic change appears to be.

So far, we have been able to find only one other person described in published medical literature with Pippa's exact genetic change.

That does not mean there are definitely only two people in the world with it. Other people may never have had genetic testing, may not appear in published research, or their information may simply not be available.

But it does mean there isn't a large group of children with exactly Pippa's genetic result that doctors can use to predict what her development will look like.

There is also some research suggesting that changes affecting exons 7 and 8 may sometimes result in a somewhat different presentation from the more typical form of Pitt-Hopkins.

That is interesting, but at this stage it is not something anyone can use to make promises or predictions about Pippa.

It may eventually help explain why some parts of her development do, or don't, fit the usual description of Pitt-Hopkins.

For now, Pippa herself will show everyone what Pippa's version of Pitt-Hopkins looks like.

June 30 was a heartbreaking day for Mollie and Ethan, but it was also the day the wondering stopped.

They finally had an explanation.

And the diagnosis didn't change the little girl they already knew and loved.

Pippa was still Pippa.

Still funny. Still determined. Still adored by her sisters. Still surrounded by an enormous amount of love.

They simply had a name for one important part of her story.

And from there, they could begin figuring out what she needed next.