Mighty Macy

We got the first hint that something could be wrong with our precious Macy after a chance encounter with a nurse at Children’s hospital when Macy was 24 hours old. The nurse thought she had some unique features that could be suggestive of a chromosomal abnormality. Naturally, we were terrified and incredibly overwhelmed. A few weeks later we learned there was a deletion on the 18th chromosome on some of Macy’s cells. They needed to do additional testing to determine what it meant, but we were told she could have some gross motor and cognitive delays. A few more excruciating weeks passed before we got the official diagnosis – a distal deletion of 18q, including the TCF4 gene, which is the cause of Pitt Hopkins Syndrome.

Although Macy’s official diagnosis is not Pitt Hopkins Syndrome (since she has additional genes deleted on the 18th chromosome), the gene that is responsible for Pitt Hopkins causes the most significant effects. Most people with Pitt Hopkins never talk. Some never walk. All have significant cognitive and physical delays. Some have seizures. Some have breathing abnormalities. Most have significant gastrointestinal issues. Nearly all have traits similar to individuals with autism. These are just the most significant potential issues associated with Pitt Hopkins. As you can imagine, this diagnosis was an incredible and indescribable blow. Our world felt like it had been shattered and our hopes and dreams for our family and our baby girl were crushed in an instant. We were absolutely devastated.

Pitt Hopkins Syndrome is incredibly rare, affecting roughly 700 people in the WORLD. Doctors, even geneticists, are unfamiliar with it. Macy’s diagnosis is even a bit more complicated because the deletion is not present on all of her cells; it’s only on 40-50% of them. This is called mosaicism and it is also very rare. This could be a good thing because it might mean that Macy’s symptoms will be more mild; however, that is not necessarily the case, and there is no way to know this ahead of time. People with Pitt Hopkins who have the same deletion or mutation may have very different manifestations of symptoms. So, we’ve been told we just have to wait and see what exactly this will mean for Macy. It’s difficult not to know what issues Macy will face, but all we can do is take things one day at a time and address whatever we are facing on that day.

Initially, life was a blur after receiving Macy’s diagnosis; however, the one thing that was clear from the moment we learned something was wrong was that we would be fierce advocates for our baby girl and fight relentlessly to help her. This fight brought us to the Pitt Hopkins Research Foundation. Thankfully, some incredible doctors have devoted their careers to finding a treatment for Pitt Hopkins. This foundation gives Macy and all of her Pitt Hopkins brothers and sisters hope that they may one day be cured. This is now our biggest dream for Macy. Please consider joining us in our fight to find a cure. We would be forever grateful if you made a donation in Macy’s name.

DONATE TODAY in honor of MACY!

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