Elijah from Ohio
Cobalamin E
Elijah was born June 2, 2023. We opted not to do genetic testing because no one in our immediate or extended families had any known genetic diseases, and our first child had been born healthy. Elijah did not get diagnosed until he was about 13 weeks old.
We first noticed when Elijah was five weeks old that he wasn’t gaining as much weight as he should have been and was a lot sleepier than is normal. We were admitted to our local Children’s Hospital soon after that for failure to thrive. We were in the hospital for five days and Elijah was discharged with an NG tube. Over the next month we worked tirelessly to help him gain weight, but his weight gain wasn’t at the typical rate and his condition continued to get worse. He continued to have feeding issues, became more lethargic, and was throwing up four to eight times per day. He was also having diarrhea, occasional blood in his stool, and started developing purplish splotches on his skin. When he was awake, he was very irritable.
Despite bringing up these concerns with our PCP, they did not want to check any blood work and thought what he was experiencing was because of his poor feeding. As a mom and a nurse, it’s hard to feel like you are trying to advocate for your child, but also want to respect the judgement of a doctor who has been in practice for over 30 years and is well regarded professionally. At the time, we were also in the process of changing to a new pediatrician’s office because the one we had been going to got a new job out of state and would be leaving the area soon. Our GI team initially thought Elijah may have a milk protein allergy, so I cut dairy out of my diet. There was also some confusion about who we needed to see about his care and ended up essentially being told to follow up with our GI team at Children’s because it was a “feeding issue”. There was a lot of back and forth and countless prayers as I felt that something wasn’t right and didn’t feel like anyone was truly listening to my concerns.
When we saw our GI doctor at Children’s, on August 24th, 2023, she brought up his skin color, which seemed ‘off’ to her, and asked me what I thought of it. I was so thankful for her validating my concerns and ordering blood work. The first specimen that was collected clotted and they called me a few hours later to tell me to get labs redrawn whenever it was convenient for me. My gut told me something was wrong, so we immediately went to our local children’s lab and had them re-drawn. They called me around 9pm to tell me that Elijah’s hemoglobin was critically low, at 3.9, and to take him to the emergency department right away. With it being so late in the day, Danny stayed home with our daughter, Norah, and I took Elijah in.
As a nurse who has administered blood transfusions to children for a hemoglobin of around 6, this was terrifying, but I also figured that it must have been dropping slowly. When we were discharged from the hospital the first time, his hemoglobin was at a low-normal range. Based on my unofficial calculations, when I first brought up his skin color to his PCP, it is likely that
his hemoglobin was around 6, which would’ve been a transfusable level. Initially I felt stupid for not having taken him when I felt like I wasn’t being heard, but it is also different when it is your kid and you’re trying to trust the judgement of people with more knowledge and expertise than you. It was a good reminder for me to always trust my gut.
The nurses in the emergency department tried everything possible and could not get an IV going. They tried nine or ten times (with heat packs, ultrasound and the vascular access team etc) and eventually the attending doctor had to do a femoral stick just to get labs. We were sent to the ICU sometime after midnight as a “just in case” until the Children’s central line team was in later that morning. Fortunately, nothing eventful happened
and a PICC line was placed without any complications. Because Elijah’s anemia was unusual, the Hematology team recommended genetics labs prior to receiving blood transfusions. Prior to the blood transfusions, his hemoglobin went down to 3.1.
Elijah got three blood transfusions, and they literally brought him back to life. He went from being sleepy and irritable to being alert and content. As his lab work started to trickle in, we found out that he likely had an “inborn error of metabolism”, and it was pointing in the direction of a very rare B vitamin metabolism problem. As you can imagine, we were shocked. We met with the genetics team while we were in-patient and scheduled a follow up to discuss our genetic testing results. Thankfully, Elijah was doing well enough with the treatments we had started that we were able to recover at home while waiting for definitive results.
Genetic testing took a couple weeks to come back, and it was finally confirmed that he has Cobalamin E Deficiency. We now know that Danny and I are both carriers and that the carrier rate is estimated to be 1 in 300,000. Since this is an autosomal recessive disease, we have a 25% chance of having a child with this disease.
Elijah is one of an estimated less than 40 people in the world with CblE.
Since diagnosis, Elijah has progressed tremendously. He has always been behind on milestones but is catching up. We’ve gotten to really appreciate and enjoy each stage a little longer. In a lot of ways, he is not too far off target when we consider month zero as the month when we started full treatments. He goes to a combined PT/OT/speech therapy session for two hours each week and early intervention comes to our house 1-2 times per month.
He is now 16 months old and is crawling everywhere and pulling to stand. We can tell he is making more neural connections with how his playing and babbling has changed and improved. He had said “mama” a few times, but it was never clear if he was saying it about me. Yesterday a friend was over, and she was holding Elijah and asked him if he wanted her to hold him or if he wanted mama. He replied “mama” and reached towards me. My heart about burst. Brief snapshots of the last year flew through my head and I was overcome with gratitude for how far he’s come.
We also recently participated in HCU Network America’s Race for Research and Norah, Elijah’s older sister, named our team “Team Butterstick” after a nickname she gave Elijah (which is hilarious to me given that he’s always been in about the 1st percentile on the growth chart). Danny ran with him in the stroller and did the rest of a Murph workout with Elijah in an Osprey Pack on his back. We had fun and raised way more money than we ever thought we would. We are looking forward to next year and already brainstorming how we can get our community more involved. More importantly, we are looking forward to what can be researched and improved in terms of treatment and quality of life for kids with rare homocystinuria/cobalamin diseases.
I thank God regularly that Elijah was born when he was, that other families have gone before us and graciously shared their knowledge and experience, and that modern medicine gives him a chance at life. Elijah is such a sweet and happy baby, and it has been so incredible to see his personality come out. It hasn’t been an easy journey at all, but I am thankful for how it has brought our family closer. It’s helped Danny and I to be a better team, and our families have been incredibly supportive. I am also grateful that I’ve been able to connect with other amazing families through HCU Network America. Our stories and experiences are similar and different in their own way, but we still understand each other on a level that few others can fully comprehend. I look forward to seeing how our kids forge their own path and become the amazing people who they were meant to be.
