Abram and Asa, 

MMA, Cobalamin B

Most brothers like to play together, tease each other, cuddle, and even share their toys. Most brothers do not also get to share a diagnosis, share medical appointments, and share a bottle of Levocarnitine. Abram (6) and Asa (2), however, have had the unique experience of entering the world of rare disease simultaneously—and completely unexpectedly. Their “adventure” began just about one year ago, on August 5^th, 2024.

Like most of our zebras, Abram, and Asa both had newborn screenings shortly after birth. Like most of you zebra parents, we asked about their little pink slips during their follow-up pediatrician appointments, just to hear the “all clear” screening results that we naively assumed would always come. Unlike most of you zebra parents, we did receive the “all clear” with all three of our children. Big sister, Anna (9), Abram, and Asa all passed their Virginia newborn screenings. We did not know about MMA until Asa, at nearly 14-months old, had been in full-blown metabolic crisis for nearly a week. After nearly five indescribably difficult days in the PICU, we were thrust into a crash course in genetics and metabolism after one lab result finally came through.

Abram and Asa both had typical infancies—meeting their milestones on time, breastfeeding freely, and enjoying solid foods and bottles of cow’s milk as they grew. Abram continued this trajectory to this day, and we probably would not know that he has a serious rare disease had it not been for his little brother. When Asa was 13 months old, he developed a full-body rash. Looking back, we wonder if it was strep, but his pediatrician deemed it viral, so we allowed it to run its course for nearly two weeks. She also noticed that he had lost half a pound, but we attributed this to his active toddler life. At the same time, we encouraged him to eat more solids, drink more water, and nurse just slightly less. Following several hot summer days at the pool and another mild cold, we noticed that Asa had petechiae all over his calves and took him back to the doctor on a Saturday. The pediatrician ordered labs to be collected on Monday. Over the next two days, we noticed Asa being more sluggish and napping off schedule. A couple of times, we felt that his breathing was fast and noticed his heart rate was elevated with his Owlet sock. We felt something coming. We were anxious and afraid. We watched and waited. On Monday, Asa had his blood draw. We went grocery shopping, and he slept in his carrier throughout the store. Our family went to the pool that evening and had it all to ourselves—I remember floating and asking myself, “is this the calm before the storm?” Roughly four hours later, I was in a helicopter with my unresponsive son in the back.  The storm had landed.

That is how quickly our lives changed. Asa’s breathing picked up so rapidly that he could not nurse without choking. We rushed him to the Emergency Department, and he was incredibly acidotic with no apparent cause. By the next afternoon, he was on a ventilator and dialysis was on the table. After nearly four days, toxicities were ruled out and endocrine disorders were not fitting, and the tenuous treatment keeping Asa’s acidosis at bay was not going to hold much longer. Only those “really rare unlikely metabolic disorders that he already tested negative for” remained. Sure enough, that is what it was. As if that was not enough—and, if you are reading this, you know that was enough—within a few days we also learned that Asa had suffered a severe metabolic stroke.

Asa was hospitalized for 18 days, half at our local hospital and half at the University of Virginia (UVA) Children’s Hospital. Those were the worst days of our lives, though the month following his discharge came in very close second. We left Anna and Abram at home with their grandparents, and they started the school year—Abram’s Kindergarten year—without us. When we finally made it home, our life was unrecognizable. In a swirl of chaos, a Medicaid waiver was secured, Early Intervention and outpatient therapies began, and we slowly rejoined the world–all while holding our son who could no longer move voluntarily, eat without a tube, nurse, or speak beyond a cry. Asa now carries a Dyskinetic Cerebral Palsy diagnosis from his stroke, and he will cope with this movement disorder for the rest of his life.

Those were very dark days for our family. Many days, I did not know how we would possibly move forward in life. I feared everything present and everything future. If I am honest, I still often do live with great fear. In the two months that followed his crisis, Asa had surgery for a g-tube, and the rest of our family received genetic testing. On October 11, 2024, we received the news that Abram also has MMA. Anna, however, is not even a carrier. Despite being informed that they boys likely had rarer, “milder” form of Cobalamin B, our world still shattered again. It was another monumental blow for our family, having two of our three children now diagnosed. We went from having three “typical,” healthy, happy children to having two medically complex children, one with significant physical disabilities, in the blink of an eye. I truly cannot give words to the grief we felt and continue to process today.

I will never forget the day Asa smiled in the PICU or the moment we finally heard him laugh again after days of silence. That was also the day he tried to say one of his two first words—“uh oh”—and realized his mouth was not working properly. I will never forget the evening, nearly a month later, when he was able to latch and comfort nurse again, or the many days over the past year in which his dystonia was so bad that he could not stop grinding his teeth. I remember when he first started using his hands a little bit again, but I will also never forget when he learned to clap, sit, roll, crawl, cruise, climb, speak… Our life is much like that now—even with every good thing that comes, there is the opportunity to remember what was and what could have been. There is always the bad with the good. It is a constant mental battle to hold fast to hope and relish the small joys in each day, rather than looking back and longing for what used to be or looking forward and fearing what may come. It is a ceaseless discipline to stay in the moment and cherish the “now.”

I know that this is probably difficult read for many of you, whether it mirrors your own experiences or spark fear for your own family, and for that I am sorry. However, it would be unfair for me to gloss over the hard parts.  Our trauma, grief, fear…it is all part of our story. We owe it to you to be genuine, and these hard parts are a very real part of our journey even to this day. That said, it is not all hard, and it would also be unfair not to share our many joys.

Our day-to-day life has slowly returned to a version of the “normal” it was before. My husband, Taylor, and I are back to working as a full-time high school teacher and part-time mental health counselor, respectively. The “big kids,” Anna and Abram, will begin a new school year next week. We go to the pool, attend church, do therapies, run errands, and shuttle kids to dance class and playdates. Asa is still an on-the-go third child, and we hope he will embrace some wheels soon so that we do not always have to carry all thirty pounds of his cuteness everywhere. He lives mainly in our arms, but we try to savor this even when it is hard, knowing he will be all too big before we know it. We count protein and prepare tube feedings, but we have found that Abram regulates his own diet very naturally, and we are happy to share that Asa has made significant progress with eating and drinking orally again. Asa has also been trialing eye-gaze devices for communication recently, and his older siblings have had a blast testing out “whack-a-mole” via eye gaze themselves. While we hold out hope for verbal speech, we are encouraged by any adaptive technology that may aid Asa in living a full and independent life; though he may face physical difficulties, we are encouraged that his cognitive abilities appear unaffected by the stroke. We turn every trip for appointments into a mini vacation, we adapt and find ways to make things accessible, and we look for fun in the mundane, routine, and difficult. We still struggle and need a lot of help, but we also are learning how to savor life more and be grateful even in the mess of it all.

Probably the greatest joy to come out of the last year has been the relationships, new and old, that have carried us through. Our parents and siblings, friends, church, colleagues, extended relatives—everyone—has shown up for us. We have been humbled to accept help in every way imaginable, and we are so thankful it was there. It is easy to expect people to show up for you when you need them, but actually having it happen and accepting that help is a different story. It brought us to new levels of connection, trust, and faith. We have also been blessed by the many new people who have entered our lives. From Asa’s PT, OT, and speech therapists, our medical teams locally and at UVA, and, most recently, the researchers at the NIH, we have repeatedly been in awe of the deep compassion and love these individuals have shown our family. I never expected providers to cry with me, to celebrate with us, or to truly love our sons. To have this, on top of their expertise, has been a gift that continues to leave me in awe. All of these lovely individuals feel like family now. Moreover, many of you reading this also feel like family now—meeting so many of you also touched by rare disease through the online MMA and OAA groups has helped me to feel so much more hopeful and less alone.  I am so grateful to you.

So, here’s to the adventure! I dare say it is not one any of us would have chosen for our families, but here we are. It is not an easy path we are on, and some days seem much brighter than others. Yet, we are not alone, and I hope that sharing our experience will help you to also feel connected and give you hope. We are all part of this OAA family together, and I anticipate continuing to share our story with you as the grief becomes smaller and the joy becomes even greater, as I trust they will. As my favorite metabolic geneticist says, “every day is a blessing.”

With love,

Chelsea
chelseampeeples@gmail.com
Facebook Page: Abram & Asa’s MMA Adventures

From the 2025 OAA Summer Newsletter