I’d love to say pregnancy was a breeze, but that isn’t the case. While it was glorious, and beautiful, and everything I ever prayed for, it also was very hard and very painful. Several hospitalizations for kidney stones, several L&D trips for decreased fetal movement, and then finally, baby boy flipped breech and stayed there causing lots of prodromal labor from my body trying to flip him. Desperately wanting to do anything I could to deliver him vaginally, I tried it all - I had already been seeing a Webster Certified chiro my entire pregnancy, did Spinning Babies, swimming, homeopathy, moxibustion, ALL. THE. THINGS. At this point our last option was to try an ECV, which we prayed and prayed about and ultimately decided to move forward with. We tried four different times, and one time we successfully got him down, but as soon as the doctor and midwife began to release their pressure, he snapped right back up. Ok.. time to set a C-section date.
The day before my c-section was scheduled for, my water broke, which meant it was go time! I was going to meet my son I’ve waited and waited for. The next few hours were a breeze, the contractions I was having while in labor waiting for my turn to go back were nothing compared to what I had been experiencing the last 10 weeks of my pregnancy. The c-section was as perfect as perfect can go, and my 8lb 12oz baby boy was everything I dreamt of and more. We immediately do skin to skin, he latches, life is great. The next day, same thing. Pure bliss - nothing could wipe the smile off my face or come close to the joy and pride my husband felt. Finally, the next morning comes and we are set to go home. Hmm, weird, he won’t latch and feed today - ok, “Can you call the IBCLC back in here please?”. She helps us get latched and asks if I have a pump in case this continues, yep, I do, we go home. We continue exclusively pumping, go to the chiro on day 3 of his life, then our family doctor and an IBCLC the next day. These are “easy” things to manage - no biggie, right?
Finally, Friday rolls around and my mom is coming to stay with us and meet her grandson for the first time. It is all joy in the bliss of this long awaited miracle boy. Until our family doctor calls at 4:30 p.m. to tell us that something odd popped up on Elijah’s heel prick tests - something about toxic load of organic acids? Maybe an organic acid processing disorder? More labs were needed and we needed to bring him ASAP to the hospital, as directed by the geneticist assigned to “our case” at a childrens hospital over two hours away by the VA Dept of Health.. What?? None of this was making any sense and because she didn’t want to freak us out too much (I’m assuming) our family doctor wouldn’t really explain much of anything and just kept saying “Let’s see what these tests say”. Ok.. but now a winter storm has set in, it’s icing, and dark, and I have a 4 day old.. Can this wait or do I need to take my brand new baby that appears fine to the hospital for these labs that they kept mentioning “could be false positives! It probably means nothing!” She has to call the geneticist and have him make the decision. He says it can wait until the next morning, but to get up and go ASAP the next morning… Ok…
Next morning rolls around, we all get loaded up, brand new baby, pump, cooler for milk, hot water to warm the milk, all the things. Get there, and nobody can do the lab work requested. They send us to a standalone Labcorp where the Area Supervisor is. Well.. they’re closed.. it’s the weekend. Back to the hospital on Monday we go. Thankfully they were able to get his veins easily, and it was a pretty easy process. The waiting began. Well, we waited. And waited, and waited some more. The VA Dept of Health starts threatening CPS due to neglect for not taking him to get labs done.. But I did. So where are they?? Lost. They are lost. So finally we have someone confirm this, send proof to VDH, and go to have the labs redrawn. We are told to go back to the Labcorp where the Area Supervisor is so she can correctly process these apparently extremely intricate labs. Only, she refuses to do them because the amount of blood needed for these labs far exceeded the amount they’re permitted to take from a tiny baby - it would take too much of his blood volume and put him at risk of other issues. But, “those other issues won’t matter if he’s dead in a few days!!!!” I hear our doctor yell at her through the phone. They decide they will take what they’re permitted to take, and see if any of the labs can be taken from the small amount of blood drawn. Fast forward an excruciating 20 minutes of pure trauma where they blew multiple of my three week old’s veins, and they were able to draw 5% of what they needed. Now we wait. Shocker, we quickly learn they weren’t able to run 90% of what they needed. But what they did get results for? Uh oh. Cue a late night call from the geneticist’s personal cell phone asking if we can come that very next day and an entire laundry list of questions. “Are you a vegan? Did you take prenatals? Did you have any prenatal care? Are you depriving yourself of food?” On and on and on. Then, the explanation. His homocysteine and methylmalonic acid levels are critically high. To the point, he can, and will, have a seizure, a stroke, and die very, very soon if we don’t figure out why this is happening. Then the instruction - “If you notice ANYTHING in the next 10 hours between now and when you head to our appointment tomorrow morning, put him in the car and get here (remember, over 2 hours away) - drive past any other hospital unless he stops breathing. Put your hazards on and get here fast, if cops pull up behind you, put your hazards on and call 911 to explain that you will meet them at the hospital and answer any questions they have once we have Elijah. We have obtained special permission from the FDA to use *long drug name not approved for this purpose* and other hospitals won’t know what to do if he comes in.” What. The. Heck. Is. Happening.
We make it through the night as fine as possible, aside from not sleeping a minute and watching him like a hawk, and being an anxious mess. We get to our appointment at the childrens hospital and are met by an entire team of doctors. They’re all blown away that Elijah looks totally healthy - in fact, he’s appearing advanced..? Making eye contact, smiling, no signs of sickness in any way. The doctors are baffled, but then we get down to business… A lack of Vit B12 is what allows these toxic acids to build up, so now we need to figure out if it’s a) he’s just incredibly deficient and we need to mega dose him to bring his B12 levels up, or b) it’s a genetic condition where his body in unable to process the B12. We consent to the genetic testing, do even more labs to check even more things, and then we’re sent home with daily injections of B12 to give to our newborn, also something that needed special FDA approval since it was outside of it’s intended use. A few weeks go by while we wait for the genetic results, and many more discussions with his geneticist happen. We learn that if it’s the genetic condition, there is no cure. Babies with this diagnosis pass in the first few weeks of life, and the longest we could expect him to live is 6 months, max. Alas, I get a phone call from the geneticist asking to schedule a time that afternoon that both my husband and I could hop on a call “to discuss in detail the results”…. No. No, no, no, no. That means there’s results to discuss. This can’t be happening. Somehow, we wait the two hours until he is available to talk to us for a few hours, my husband rushes home from work, and we get on the call. No ‘hello’ or anything - he starts with “It’s not the genetic condition that automatically means death!! I think he will be ok!” …. Ok, I can slightly breathe now, but then why are we on this call?? Elijah’s geneticist goes on to tell us that he has Transcobalamin Receptor Defiency - a genetic condition that has only been diagnosed in 19 individuals, erm, now 20. There’s very little information about it, what all is affected, how to treat, etc and “truly, we really don’t know anything about his condition”. Thankfully, of the other 19, only one child has passed away and that was due to complications from another genetic issue, so we have reason to believe Elijah should have a decent chance at surviving childhood - words I never thought I’d be grateful to hear. The B12 shots we were already on for several weeks at this point were successful in helping his receptors process the B12 and rid his body of the toxic organic acids and brought them within normal ranges, so we were cleared to slowly wean off of them and see how his body does on it’s own, pending close monitoring of his labs.
Fast forward several months.. Elijah’s not crawling. “Every baby has their own timeline” I hear from anyone I mention it to. But something inside of me said no, this is more. Finally, he crawls. But.. Now we can’t walk. The same leg that looked like dead weight for the longest time when trying to crawl, is now just dragging when he tries to walk… What could this be? After multiple conversations with our family doctor at the time that seemed to fall on deaf ears, I message his geneticist. He asks to see him that day.. Crap, I can’t make that work - but I can be there tomorrow… so we get things moved around to be there the next day. Long story short, I walk out relieved that it’s not the progressive limb weakness that could be associated to his genetic condition, but now we have referrals to PT, OT, Speech, and Developmental Neurology for a Cerebral Palsy workup for my 13 month old. Man, the hits just keep coming.
I’d love to say we’ve gotten answers, but we haven’t. It’s been just a few months and there’s only two Developmental Neurologists in our state, each with 15-18 month waits. Thankfully, we’ve been able to get into therapies (and he’s already been released from PT!) and Elijah is progressing far beyond what I would have thought possible just three months ago. He’s running, dancing, climbing, talking, and so. so. so. joyful. From the outside, you’d never know anything is going on or how close to not being here with us he once was. It’s so encouraging that others are able to see him for who he is, not for his genetic condition or possible CP diagnosis - but as the joyful, crazy toddler he is. On the other hand, it’s made me question every day “Is this typical? OR is this because of XYZ?”
I’ve been a mom for 16 months now, and while there are many things I still have to learn, one thing I’ve learned again and again is God gives moms that “mom gut feeling” for a reason - use it. We are told that we are not to lean on our own understanding but that the Lord will direct our paths (Proverbs 3:5-6) and I’ve seen this time and time again since becoming a mom. Another thing I wish I had of been more open to is utilizing a traditional pediatrician sooner. I ended up staying at a family practice longer than I should have because our provider was kind, open to our decision to not vaccinate, and allowed us to make decisions for our son without pushback, when all along there was a pediatrician who also offered those things, and doesn’t dismiss my concerns (which have proven to be valid concerns). Hindsight, we’re able to see that the inability to breastfeed, the trouble crawling, him choking on liquids, etc etc all points to the suspected CP, which likely is caused by how sick he was in utero and shortly after birth until we were able to get him on the daily infusions of B12. Through it all, God carried my husband and I by the guidance of His Holy Spirit, and I shutter to think where we would be without it, or had we made any decisions differently. There’s a lot of talk in the natural minded space about not doing the heel prick shortly after birth - I’m so grateful we did this. In fact, it was the only thing we consented to after birth, and it saved my son’s life. I also am terrified to think what would have happened to his already over-burdened body had we given him his newborn vaccines. We’ve since been told that opting to not vaccinate him when he was born is likely the only reason his body was able to handle the incredibly high levels of toxic buildup that was in his system, since it didn’t have even more added to it. We now have been instructed to not adminsiter any at this time, since we need to see how his body responds to every day stressors before administering vaccines that could potentially be too much for his transcobalamin receptors to handle. I praise God and thank Him for guiding us in the life-saving decisions we made, before we even knew why we were really making them. Hindsight is 20/20, and it’s incredible to see what God has led us through and how many odds my son has already beaten. We’re able to look ahead with enthusiasm and joy because we can already see how God has directed us and we can rest assured that no matter what comes in the future with his health, Elijah is loved and cared for by the Almighty God and that brings more peace to this momma than anything else could.
-Kristen Hummel
