Carter From Georgia
Carter was born in February of 2024. He was ten days late, but he was a perfect little baby; everything that we'd hoped and prayed for. His first 24 hours of life were pure bliss; almost like a dream. I’d had a very easy pregnancy and birthing experience, which to me almost felt too good to be true. Carter did have a little bit of jaundice, but other than that, everything was just fine. After a few routine days in the hospital, we went home and life as a family of three began.
Things were pretty quiet for the first couple of weeks until we received a phone call from the pediatrician’s office. The person on the line, I believe it was one of the nurses, told us that that something in Carter’s newborn screening results came back abnormal and that we needed to come into the office. When we sat down with Carter’s pediatrician, he said that the newborn screening test showed an elevated level that could indicate a rare genetic disorder called homocystinuria. But, he gave me hope that this was not the case. He told me that in the 13 years that he’s been a doctor, he has never had an infant or child diagnosed with this disorder, and that it’s not uncommon to send a baby back for follow-up testing. But, deep down in my heart, I somehow knew in my heart that Carter was going to have this disorder. Throughout my entire pregnancy, I had this unexplainable feeling that something was going to go wrong like I was just waiting for the other shoe to drop. So, even as the doctor tried to reassure me, I just knew.
The next thing he told us was that they couldn’t perform the blood test in office, so we would need to head to the hospital’s lab, which is exactly what we did. Within a day or so, we got a phone call back from the pediatrician. Carter’s homocysteine level was 29; not horribly elevated, but enough that the pediatrician wanted to refer us to a geneticist. While we waited, I did what every parent in my shoes would do: I turned to the Internet. I need to figure out what we might be up against – what is homocystinuria and what would this mean for our future? I searched Google, YouTube, Instagram, and Facebook for anything I could find on HCU. The things that scared me the most were blood clots, strokes, brain damage, eye damage, possible death if left untreated, and the low-protein diet! It was a lot to take in.
Once we connected with the geneticist, he had Carter go in for another blood draw to check the status of his homocysteine level. We went in for the blood draw and got a phone call the next day. Carter’s homocysteine levels had doubled from 29 to 60. My husband and I had genetic testing done; a saliva swab test along with blood work, and that is what confirmed our fears: Carter did indeed have classical homocystinuria. As the geneticist explained the disorder to us, it sounded a lot like what I had found in my research. I knew that the fact that Carter had been diagnosed early likely meant that we could avoid complications from the disorder, so my worries in that moment went straight to the idea of the low-protein diet that Carter would have to follow for the rest of his life. My mind was spinning. I needed to hear from real people. That’s when I found HCU Network America, and I began to read patient stories which gave me some relief. To know that my son wasn’t alone and that there were a group of people who are going through the same things we are, and that there is hope for a normal life for my boy was reassuring. When Carter was six weeks old his geneticist started him on liquid B6, which only brought his numbers down a few points, so we doubled it. I was concerned; nothing scared me more than high homocysteine. His levels got as high as 98, and that’s when I got really scared (Dr. Google said that a homocysteine level over 100 was dangerous.). The B6 did bring his levels down (to around 70), but not as much as we would have liked. So, it was determined that Carter was partially B6 responsive, and we’d need to try some other things to get his levels down further. We started Betaine when he was 3 months old as well as Hominex-1 formula. Since then, Carter’s levels have gone all the way down into the 20’s! We are so thankful for that.
Our sweet boy is now 6 months old and thriving – he's meeting all milestones, and making our hearts melt each and every day!
He does really well taking the formula. When I first smelled it, I thought "there is no way he’s going to eat this!”, so I was pleasantly surprised that he has taken to it so well. We’re about to start introducing solid foods, so we’re already looking at protein content and trying to learn which foods are better options than others. I’m not going to lie: the low-protein diet worries me. As Carter gets older, how am I going to keep him from foods that he can’t eat? How am I going to make sure he isn’t given food by a family member who forgets or doesn’t know what he can and can’t have? What about when he goes to school and kids try to switch lunches? (we all know how kids are!) What the heck am I going to feed him? It seems like he can’t have anything! What do I say to him when he questions why his parents eat all these foods he can’t? My heart breaks that this is his reality for the rest of his life.
As difficult as navigating this new reality seems, I can’t express how happy I am that there is a community for families and patients with HCU. With how rare this disorder is, I assumed that there wouldn’t be many resources out there, but I’ve already discovered so much. There’s a lot of support out there, you just have to look for it. For example, I found a mom on Instagram who shares the low-protein lunch ideas that she makes for her child. I thought “ok, that’s doable! I can do that.” In addition to connecting with families with HCU, I’ve followed some PKU families to get their perspectives and ideas on low-protein foods. I also saw that HCU Network America just held a family conference, and we can’t wait to attend conferences in the future to meet families like ours!
Looking back at our journey so far, I feel a sense of gratitude for the timeliness of Carter’s diagnosis. As much as a wish he did not have a rare disorder, I am so thankful that it was caught at newborn screening (I’ve since heard that it’s believed that 50% of babies with HCU are missed by newborn screening!). I remember getting a brochure in the hospital with information about newborn screening and letting us know that Carter had undergone the screening. I took it home and put it aside. It wasn’t until we got that phone call saying that Carter’s screen was abnormal that I got the brochure out and really read it. I didn’t understand at the time how important that screen was, but I sure do now.
My hope for Carter’s future is that he can lead a normal life and not feel like he’s different from other people just because of the way he has to eat and the formula he has to take. I also hope that the newborn screening for HCU can be improved so that other babies are able to get a diagnosis and start treatment early like Carter did. We are thankful that he has not had any symptoms show up and we pray that he will live a happy, healthy and fulfilling life!
