Meet Amery Jayne Peckat, or AJ, as her family calls her. The Peckat family was introduced to Project 12-04 through Cherise Machmer, who was one of Andrew’s first caregivers. Amery’s mom, Hailey, had reached out wanting to get connected to a community close to home that just “gets it”. Hailey says, “Amery is SUCH a light to everyone around her. While this process has been a whirlwind, we are just soaking in all our days and trying to take things one day at a time.” Read more about the Peckat family and their journey to discovering that Amery and mom, Hailey, have a rare mitochondrial disorder.
Hi! I'm Hailey. My husband, Jeremy, and I have 3 children, Dawsyn who is 3.5, Amery who just turned 2, and Meyer who is 3 months old. Amery has earned herself the title, “our mystery child,” as we were trying to decipher some of her unique signs and symptoms. Amery’s chronic GI issues were her first challenge at 6 months. It started from constipation to diarrhea and everything in-between. The more food that was introduced to her diet, the worse it got. Then, she was found to have strabismus and abnormal tear ducts that never formed, with repair at 11 and 14 months old. During all procedures Amery had, she had issues with anesthesia where she became phlegmy with low oxygen, needing steroids, and nebulizers. We started to question if more was going on when we got Amery up one morning from her crib to find her cold, clammy, lethargic, sweaty, and shaking uncontrollably. After drinking milk and eating two muffins, the shaking subsided. All labs and vitals looked normal, and we were told, “probably a virus coming on… true hypoglycemia is rare so we won’t think that unless it happens again.” These episodes happened four more times and we were able to rule out hypoglycemia with a normal sugar reading. Mixed in with all this Amery stopped growing, literally. For 11 months during a time she should still be noticeably growing, Amery stayed the exact same size despite an appetite that surpassed my husband and I’s at times. That’s when we found ourselves walking into the genetics department at Children’s Minnesota.
Thanks to whole exome sequencing, Amery was found to have two gene mutations in the MT-ND5 and CHD5 gene. The MT-ND5 gene mutation led us to the diagnosis of a mitochondrial disease; which we have learned can range in symptoms, onset, and severity. The specific mutation isn’t correlated with an exact disorder within the “mitochondrial disease family,” which isn’t uncommon due to the variability. They did a skin biopsy to confirm the abnormalities and they stated that it may give us a closer look into if she falls into a more specific mitochondrial disorder or if things are going to stay more general. We were hoping to learn more about what to expect for Amery during upcoming appointments later this summer, and then she was admitted at the end of July after spiking a fever, vomiting, being lethargic, and having an increased white blood cell count. Her geneticist confirmed that Amery has a mitochondrial disease. Thankfully, she was put on the mitochondrial disease "protocol" while inpatient and she responded really well. It's the quickest we've ever seen her turn around from a sickness.
What’s unique is that I have an identical mutation in the MT-ND5 gene as Amery, which led to a deep dive into my medical history to see if I had any symptoms of a mitochondrial disease. Come to find out- double vision, extreme fatigue, hyperemesis during pregnancy, peripheral neuropathy, migraines, periods of tachycardia, dizziness, low blood pressure and chronic vomiting are all symptoms of a mitochondrial disease. Some of these are symptoms I had experienced, and was experiencing during our diagnostic journey while I was pregnant with our third child. We are still waiting on my skin biopsy to try to further pinpoint the specific mitochondrial disease may be affecting us. Amery's geneticist directed me to consult with an adult geneticist at Mayo Clinic for myself so I will be beginning that process as well.
This process for our family has been challenging. I became pregnant with our third child and had hyperemesis for about 22 weeks. This was during the time of Amery’s surgeries, the first lethargic episode, and really just the beginning of things in general. We received the results of whole exome sequencing when our third child was just 5 days old. So you could say the hormone changes on top of all this new information didn't help the cause. My husband has definitely been more emotional than I've ever seen him and we both have our struggles, fears, and anxieties. We have a strong faith and I believe that has carried us through this journey. I believe she was made perfect in God's image and whenever I really start to struggle, that brings a lot of comfort to me. We both have definitely wrestled with a lot of anger and frustrations and asked why, but overall staying grounded in our faith has been huge. Even though our oldest daughter, Dawsyn, is only 3 years old and I don’t think she understands most of what's going on, she gets concerned when Amery has to go to the doctor or seems like something is wrong. We've tried not to talk about it around Dawsyn but always try our best to answer questions when she asks why Amery is going to another doctor or why Amery can't talk yet.
Overall, even though we do have support, we have oftentimes felt alone and isolated because no one truly understands what this process is like until you go through it. Doctor after doctor, specialist after specialist, stating something is wrong, and test after test coming back normal. The further you get into no answers and the more you hear, “rare” the scarier and more alone it feels.
We are so hopeful this is the final piece of the puzzle for Amery and that we can get her on a treatment plan to move forward, but there are still a lot of unanswered questions and thoughts for what the future may bring. Amery has continued to have shaky episodes upon waking and staring episodes, which is a concern for seizures. In August we have an inpatient stay at Children's with the MN Epilepsy Group to rule out (or in) seizures. She also turned two this last June and isn't talking yet. The other gene mutation Amery has in the CHD5 gene is a newly documented gene mutation, first documented in 2020, so there is limited research on it. There is one research article that suggests there may be a correlation with significant speech delay, autism spectrum disorder, developmental delays, things of that sort. We believe it's a blessing in disguise as this mutation allowed Amery to be automatically enrolled in early intervention services through the school district for speech therapy services. We are working on teaching her how to communicate with an iPad.
My perspective has changed some through our journey with Amery. It sounds cliché but I really don't take the little things for granted anymore. I've significantly cut back my screen time, my patience, in general, is ironically better and I just want to soak in every single minute with our little family. I also just don't sweat the small things anymore. Milk spilled? Great, who cares. You want to get dressed before brushing your teeth? Have at it (current stage of life with 3 kids 3 years and under hah!!) My whole attitude has just really shifted with that stuff because there's so much worse that could be going on. However, once again I think my faith has helped a lot in this and kept me grounded and sane. - I just asked my husband his opinion and he says "yep that covers it!" haha!!
-Hailey Peckat (mom of Amery Jayne)