Marcus from Colorado
We found out I was pregnant with Marcus in April of 2021, after trying for nine months for baby number two. My pregnancy was manageable; I was exhausted the whole time and took a lot of naps, nauseous near daily for the first trimester, and miserable in the summer heat: all normal things! We were cautious from the start of my pregnancy as I had gestational hypertension with Marcus’s sister Aria, but thankfully monitoring my blood pressure and taking a baby Advil daily helped keep that under control. By the time I was 36 weeks along I was done being pregnant and had a feeling Marcus was going to take his time to arrive so I asked if we could be induced. My doctor agreed to induce me at 39 weeks. On December 27th, after a full day of laboring, one failed epidural, and two pushes, Marcus was born at 10:46 pm weighing 7lbs 5oz. He had the sweetest little face and a full head of black hair, and we were in love instantly!
During my labor, my sister pulled out her tarot cards and we did a reading that implied I’d need a lot of strength for this baby. I didn’t know it at the time, but it was going to be a lifetime of strength!
After a few days in the hospital, we finally got to go home. Marcus wasn’t gaining enough weight, so we had a few extra weight checks and were told to supplement with formula. About a week after he was born, I received a phone call from the pediatrician’s office. The lady I spoke with was asking how Marcus was eating and sleeping and I thought she was just checking in on his weight gain, until she asked if he had been vomiting at all. She then said we would need to come in for additional testing because his first newborn screen was slightly ‘off’, and I remember her telling me it could be a false positive due to his jaundice. We took him in and got the bloodwork done, as well as a urine sample. The tests done had different results this time and showed other issues. I was so confused about everything going on that I could barely even explain to my husband Matthew. At this point, we didn’t really tell anyone what was going on.
On January 17th, while cooking dinner, I received a call from the genetic and metabolic department at Children’s Hospital. They told me Marcus’ second newborn screen was also off and he required some additional testing, and to come in as soon as possible. Shortly after I received the call, Matthew came home from work, and he could tell immediately something was wrong; I broke down crying. I tried explaining the call I had just gotten but was still so confused that I really had little to say besides I that we needed to take Marcus in. We ate dinner in a hurry, I packed up the diaper bag and Marcus and I headed to Children’s hospital in Aurora. Matthew and Aria stayed home; I didn’t want Aria to see her little brother in the hospital and I was told we would just be waiting for lab results anyway. We arrived at the emergency department, ot checked in, and were taken back to a room.
A nurse came in and got his blood drawn right away, leaving the butterfly needle in his arm just in case, and then we waited. A few hours passed before a doctor came in and told me that Marcus was deficient in vitamin B-12. Originally, they were thinking he might have PKU which is why they retested everything. They administered two B-12 injections and told us we would need a follow up and more bloodwork. We went home to relax, still feeling a bit confused and tired, but a little hopeful that this all seemed to be over with. Two days later I found myself on a telehealth call with the metabolic department at Children’s. They explained the B-12 pathway to me and that said Marcus actually had high levels of B-12; that he not was deficient. Then they told me this could go one of two ways: One, his body was having a hard time breaking down B-12 and getting it into the cells. They were hoping that the injections they gave Marcus two days prior would help and that within a few weeks everything would be fine. Or two, that there may be an error in the B-12 pathway causing a bigger, lifelong problem. They asked if they could send off the extra blood they drew for genetic testing. I agreed and was told to watch Marcus for lethargy and excessive vomiting. Now we were back to waiting and worrying.
We finally shared with family and friends what was going on and asked everyone to send good vibes, positive thoughts and prayers that this was not a lifelong situation. Two weeks went by as we waited for the genetic results. During that time, I was a nervous wreck. I was trying to stay positive, but something in me told me to prepare for the news we didn’t want. I tried to shove that feeling to the side, but it just kept poking at me for weeks. Marcus seemed to be doing just fine during this time, he wasn’t sleeping any more than a newborn should, and he only threw up a few times; nothing that made me feel we should take him back to Children’s. Finally, two weeks after I had gotten a phone call from the metabolic department, she told me Marcus did have a genetic disorder - homocystinuria with methylmalonic acidemia (Cobalamin C).
The words were a blur, and the confusion and worry came rushing back; I felt my anxiety really set in.
The next day Dr. McCandless and his team showed me some diagrams of the B-12 pathway, and explained how Marcus even received a “bad” gene from Matthew and me. He told me the only treatment is a daily injection of a highly concentrated B-12, that I would have to administer. My heart shattered when I heard those words. He mentioned Betaine, but first wanted to wait and see how Marcus responded to the injections. He told me all the things that could be affected like his vision as well as mental and physical delays. All that shattered my heart even more, and the possibility of vision damage scared me.
On February 16th we received a delivery containing syringes, alcohol prep pads and vials of hydroxocobalamin. That evening we drove to Children’s hospital to learn how to do the injections. It was snowing and I already get anxious driving in the snow, but I was even more anxious knowing what was about to happen. I put on a brave face and listened very intently to the nurse as she demonstrated how to administer the injection. When she said “okay, are you ready?”, I absolutely was not ready, but I knew it had to be done. That strength from my laboring tarot reading needed to come on strong and fast! I couldn’t even look Marcus in the eyes; I didn’t want him to know I was the one causing temporary pain. I got the syringe filled, prepared his leg and took deep breath before giving him his very first injection.
It wasn’t physically hard to do but mentally I was a wreck and was holding back tears. After we finished our injection lesson the nurse took us to the lab to get bloodwork done before we headed home.
At first doing the injections was rough for me mentally. Aria was scared and would run to the other room when she saw me get a syringe and vial out. But, after a few weeks of our new routine, I was finally able to get past the mental block I had and was able to just do the injections. It’s funny to think I was once so anxious as now it’s just a normal part of our day. The difference is, it’s not as easy physically anymore: Marcus fights it hard! I was once able to swaddle him and do his injection on my own, now Matthew has to hold Marcus down so I can get it done. Aria finally came around after a few weeks too, and started watching me give Marcus his shot. She would try and calm him down by talking to him or distracting him with a toy. She’s been the best big sister from the moment we brought him home and has continued to be amazing with him.
As Marcus continued to grow, we didn’t really have many concerns for him. Even though he’s on the slimmer side, he continued to gain weight nicely. He developed physically just fine; crawling by 8 months and walking by his 1st birthday. We had his first vision appointment when he was two and a half months old to establish a baseline, and we continue to get his vision checked every six months. So far, we have seen zero damage to his eyes!
When Marcus was six months old, we all got Covid. Marcus was fussy, wouldn’t finish a bottle, and was sleeping a lot, so I knew we had to take him in. This visit to the ER landed us an overnight stay at Children’s. After he was pumped with fluids and taking his normal feeding, we were able to go home. In April of 2023 Marcus got a stomach bug that took us back to the ER, but like before, after some fluids and rest, he was good to go home.
After Marcus turned one, he became picky with food and continues to be a snacker. We are extremely grateful he doesn’t have to follow a low-protein diet because we have zero idea what he would ever eat. He did have some delayed speech, though we aren’t sure if it’s due to Cobalamin C or if it was just him listening until he was ready to talk more. Now, every day he picks up a new word, and I love watching his face when he’s trying to form a new sentence with different words. Marcus has grown into a full-blown boy; he is rambunctious, loud, clumsy, independent and silly as ever. He is also kind and loving and gives the best hugs and kisses when he feels like it. He loves Spiderman, dancing, playing with his trucks, and copying everything Aria does. We were blessed with this little boy, and he fills our hearts every day.
As I look back at the beginning of his life, I remember so much worry, frustration and confusion. Now I look at Marcus and am filled with happiness, hope, and the knowing that everything is okay. I wish there had been more support available when we were going through all this. I didn’t find HCU Network America and the HCU community until last year, and I feel like it would have been beneficial for us to know this community existed in the beginning. I also wish we had sought support from our family sooner. We were too confused to explain anything, but being confused with people who love you and your child would have been easier, I think.
My hope for the future is that diagnosis can be done for all patients quicker than what we experienced, without all of the additional testing and so much waiting.
I also hope that a better treatment option can come about. I am the only one who has ever given Marcus his injection. Our family members find it hard to watch us give it to him, or even talk about it sometimes, and it’s frustrating. Until Marcus is old enough to do his injection on his own, or until a better treatment option comes around, we will not be comfortable with leaving him for longer than 24 hours. I’ve been lucky to be a stay-at-home mom to Aria since 2020, and thankful that I have been able to continue to stay home with Marcus as we watch him develop and grow.
Having a child with medical needs is not easy. Strength is something we had to embody from the start of his life and that is something we will never surrender. Marcus is so strong and brave; he’s our little superhero! We are blessed to be his parents and walk this life with him, no matter how hard it might be.
Featured HCU Hero: October 2024
