Receiving Piper’s Diagnosis at 10 Months Old

Over the past few months, I’ve felt compelled many times to provide our family and friends with an update on Piper’s medical journey, but behind the scenes, we were patiently waiting for our final genetic testing results. This wait was absolutely brutal – over 5 months. The whole exome gene sequencing test took place in a lab in California, where they were inspecting individual genes known to cause hearing and vision loss. Mike and I submitted our DNA samples as well, so that if/when any findings were discovered in Piper, they could look for those same changes in us to determine if they were inherited. On July 12, 2021, we finally got “the call.” The geneticist explained that Piper’s testing found an extremely rare gene mutation, which they are certain is the cause of her disabilities. This genetic mutation was de novo, or new in Piper, meaning she did not inherit the mutated gene from Mike or myself. However, they noted that this change could be due to something called mosaicism, which is a condition where there are genetic issues within the sperm or egg cells, but not in the parents’ DNA. After hearing all of this, I think I was in shock. After the first two rounds of more simplistic genetic testing came back normal, we had been told for months that a genetic abnormality was of course a possibility, but the doctor’s really didn’t suspect any findings with this genetic test. (Spoiler – there were findings.)

The idea of broadcasting to the world the exact name of Piper’s disorder has given me mixed feelings. By no means is it a secret, but once it is written and shared with our loved ones, there is no hiding from its reality. You can easily Google her disorder and see that the ultimate outcome isn’t desirable. Her disorder is extremely rare, and unfortunately that means there isn’t a ton of research or treatments available.

Piper has been diagnosed with pyruvate dehydrogenase complex deficiency (PDCD), caused by a rare mutation (less than 30 recorded cases) of her PDHA1 gene. I will try to explain this in the simplest terms that I can, and to the best of my medical ability, which is not great but better than it was a year ago! I think after a year I can officially call myself a medical mama 🙂 PDHC is a mitochondrial disorder that causes lactic acidosis, an excess of lactic acid in her system that she cannot efficiently expel. Signs and symptoms of PDCD include: hypotonia (decreased muscle tone), poor feeding, lethargy, structural abnormalities in the brain, vision issues, microcephaly (small head), spasticity (tight muscle tone), and seizures. With the exception of seizures, we know that Piper currently has all of these. She is scheduled for an EEG in October to monitor her brain for seizure activity, since they can occur without any outward signs or symptoms, called subclinical seizures.

With any disorder, there are levels of severity. Piper’s case is fairly severe. The greatest blessing in this diagnosis so far is the lack (we hope) of seizure activity. Many kiddos with seizures develop them very young and they can be hard to manage, even with the help of medication. Even if she hasn’t suffered from them yet, she is still, and probably always will be, susceptible to developing seizures.

The unfortunate nature of Piper’s disorder is that they know over time it will get worse. It is hard to explain (and understand) what that means, especially since there is such little data available. To be honest, we don’t even fully grasp it ourselves yet. We know that Piper is already showing signs of worsened hearing. She is certainly growing and gaining skills in other areas, but her hearing is fading even at only one year old. The overall status of Piper’s health is that she is very medically fragile. If she gets seriously ill, by way of pneumonia or a bad case of the flu for example, that could cause her body to work so hard fighting off the sickness, that she could lose skills/milestones in other areas related to her disorder that she would not be able to regain.

I don’t ever like to dwell on the negative, and I don’t mean to here – but I think sharing what Piper is like now, a week before her first birthday, will help you understand her situation. Piper does not roll over unassisted, she doesn’t crawl, she doesn’t use her hands to reach for objects, she has vision issues so she doesn’t make great eye contact or do well with tracking toys. And that is all okay. Some of these milestones she may never hit, but for any of them that she does, I will be screaming about it from the rooftop because they will each be a miracle of their own. What Piper can do is an even longer list; she can sit almost unassisted, she can hold her head up independently, she uses her hands to rub her eyes when she’s tired, she is getting more confident standing with assistance, she gives the occasional smile when she is happy, she will communicate back and forth when she’s excited, she loves to be outside and go for walks, she loves getting her bath each night, she is able to eat orally even though the majority of her food goes into her g-tube, she makes us laugh each and every day, she has a huge personality and even a bit of an attitude like her mama, and she is getting better and better at all of these things every day.

It’s been about a month and a half since we got the call from the geneticist that shared Piper’s results from her genetic testing. It has honestly taken this entire time to really process (as much as possible) all the information that was thrown at us. There have been moments of sadness I cannot explain, and I think only a parent that has been in a similar situation can truly understand. But through the sadness, I am joyful. Piper Ann is the absolute light of my life – she is funny, spunky, and so damn loveable. Being her mom is the most special gift God has ever given me. There are so many more things I could write and stories I could share about God’s work in our life through all of this, but I’ll save those for another time. 🙂