Welp, it is already September of 2023, and a lot of life has been lived since my last post highlighting all of 2021. I keep promising myself that I will be better at documenting our journey, but time goes quickly and life is hectic. In the past year and a half, a lot has been happening, including the birth of our son, Patrick!
Starting back at the beginning of 2022 (far before little brother was on the radar), we were in the midst of a terrible cold season with Piper. Piper attended daycare three days a week, and all winter long, she was having back to back sicknesses that would rarely, if ever, go away on their own without an antibiotic. Pair this along with her ear tubes falling out and having terrible ear infections for a month until we could get in to have her ENT specialist place new ones in February 2022, we were just miserable. Things just kept getting worse and worse. Somewhere along this timeline, Piper developed a new kind of seizure, where she would have one or multiple limbs twitch for a few seconds. When she is sick, her seizures are typically worse, so that makes it even harder to decipher if new seizure meds are working effectively.
In March of 2022, we ended up in the Emergency Room for the first time with Piper. During the first few months of 2022, Piper had two cold viruses, and then contracted Flu A as soon as she was over the viruses. She vomited almost everyday for about two weeks. Now remember, her nutrition and diet are essential to how her body functions in ketosis. If she gets out of ketosis, it could be detrimental, so that adds a whole new level of concern to a child who isn’t keeping her food down. Thankfully that wasn’t the case, but we brought her to the ER due to extreme lethargy, abnormal breathing patterns, and just not being able to recover. Thankfully we were able to get her some fluids, check her bloodwork, urine, chest x-ray, and other things before going home feeling like she was on the upswing.
We had been talking for a while about possibly taking Piper out of daycare. It was when we were sitting in the ER, feeling completely helpless, that Mike and I looked at each other and said, “Enough is enough. She’s not going back.” After a few weeks of searching, we found an in-home babysitter that we felt comfortable with. The first week our new childcare was supposed to start, Piper got yet another cold. This one ran her ragged worse than the flu. We ended up back in the ER, and they admitted us Tuesday through Saturday. Turns out she had contracted a different strain of a cold virus she had two months previous. Her oxygen levels were not great during sleep due to extreme congestion that could only be relieved through Respiratory Therapists deep suctioning her every 4 hours. This was during the first week of April. We came home that Saturday, as Piper was improving enough to not need such intense suctioning, and we felt we could manage the sickness at home.
The following Monday, she started having a new bout of unexplainable crying and fussiness. It would only happen whenever you would move her or pick her up. If she was sitting still or lying down, she was perfectly content. We began to worry about her hips, since she is at risk for hip dysplasia. After a week or two of this fussiness coming and going, it kept getting worse, so we contacted her specialists to figure out what was going on. After a hip x-ray, an ultrasound on her intestines and kidneys, a urine and blood analysis, and another ultrasound to look at her hips again, everything came back normal. Doctors said they believed it to be neuropathic pain. This is yet another aspect of her metabolic disorder that we were not prepared for yet. Essentially, neuropathic pain can occur when there is damage to the central nervous system, causing real pain signals to be sent from the brain when there is no outside contributing factor to cause pain. But, medicine for that didn’t do the trick either. Along with the fussiness, she also developed bloody gums and an intense diaper rash that no cream could touch. Piper never had a diaper rash until this. Finally my Mother-in-Law, whose background is in dentistry, said that bloody gums is sign of a Vitamin C deficiency. We googled the associated symptoms, and they aligned exactly. We immediately began a vitamin supplement, and I kid you not, within a few days, all of her symptoms were resolved and she was back to her normal self. So yeah, we self-diagnosed our child with scurvy. I don’t blame the doctors for this, but this experience does highlight how tricky a rare and complex disease can be. Because Piper’s body functions differently, and she is at risk for serious medical occurrences, it is easy for even the brightest doctors to overlook the simple things.
We had a trip planned to visit friends in the Carolinas, and we were stressing because this scurvy situation wasn’t identified until a week or so before our flights. Thankfully she recovered and we were able to go on the trip! It was amazing to have our girl back to normal, and so happy. She put her feet in the ocean for the first time and absolutely loved it. We were going into the summer months, and all we wanted was to enjoy the time as our little family of three. Many memories and fun times were had that summer.
In July, we had an appointment at University Hospital in Cleveland, Ohio with Dr. Suzanne DeBrosse. She is one of the leading doctors in PDCD in the country. We traveled there for the visit and she sat with us for over 2.5 hours. At this point, we were not really connected with many other PDCD families, so her knowledge was very comforting. We left the appointment feeling validated that we were on the right track and doing everything we could on a day-to-day basis for Piper.
Other activities that summer included going camping for the first time as a family, celebrating Piper’s 2nd Birthday, practicing walking in the gait trainer, and going to University of Michigan for a second opinion on her seizure management plan. We monitor and chase seizures on a daily basis, and wanted to make sure that our care plan at Helen DeVos aligned with another highly reputable hospital.
Behind the scenes, we were thinking about adding another member to the family. We were so excited to find out we were having another baby, and we were able to surprise our families with the news at Christmas. I had major fatigue during my first trimester with Piper, but with this pregnancy it was next level. I remember a few days where I slept in past 10:00 am, and if you know me, that is not my style. I have experienced both of my pregnancies’ first trimesters during the transition from fall into winter, and have to admit that it’s a very convenient time to not need an excuse for being cuddled up at home.
From what I can remember, we made it through the cold season much easier than the year before. I credit this fully to not being exposed to the daycare setting. (I did catch Covid for the second time in early December, but again, did not pass it to Mike or Piper) But, the seizures would just not get under control. We continued adding and changing meds to try and give Piper some relief. It became common occurrence for us to begin a new medication, have great initial success, but then see the seizures slowly increase again. This resulted in a need to increase the new medication, and the cycle continues… Finally around the Spring of 2023, we tried medical grade CBD and we were stunned with the results. By far, CBD has had the greatest positive impact on her seizures to date. Not only did we see the seizures improve, but it helped tremendously with her sleep as well. Poor sleep is a common symptom with PDCD, and with crappy sleep comes a tired Piper during the day, and when she’s overly tired, an increase in seizures is common. It’s a nasty loop of action and reaction that we were excited to mostly escape from. With this addition of CBD, we started seeing days of ZERO seizures – something we hadn’t experienced since her seizure activity had begun. For now, we are trying to cherish these good days and pray she remains stable for an extended period of time.
Layna O'Connor 