When I started this blog I figured I’d be posting about being a new father, but I never thought I’d be making a post like this.
This isn’t a post about poopy diapers, late-night feedings, or anything else that’s common with having a newborn, it’s about something that most couples thankfully never experience. A day or two after you bring your baby home you’ll be paid a visit by the public health nurse, as part of the Healthy Beginnings Program. It’s an excellent service for new parents; the nurse checks to see how you’re doing, offers information on proper breast feeding, answers any questions you have, and performs a “heel prick.” This is where they prick the baby’s foot and put four drops of blood on a card which is sent to a lab where it’s tested for 17 genetic disorders. We were told “no news is good news, so don’t expect a call.” The test was taken on Tuesday, December 27.
On Tuesday, January 3 we got a call.
“Hi, this is a nurse with the Healthy Beginnings program. Can you come in to give another blood sample today?” I was a bit freaked out, because “now news is good news,” and this was news. We headed to the local clinic and met with a nurse there. She talked to Kat about breast feeding, and answered a few questions, but all I cared about was the blood sample. I asked her what happened, and she explained that sometimes they get tests kicked back to them because the sample was taken incorrectly – there wasn’t enough blood, or maybe the foot touched the card and there were skin cells on it. If there was a problem with the sample it would go to our pediatrician to follow up with us. But then I asked another question, I can’t remember what, and she looked at the form from the lab. She commented that it wasn’t a standard form they get back, and it had “HMG” written on it. “What’s that?” I asked, and she didn’t know, so I pulled out my phone and quickly looked on Google while Kat asked her another question. I gulped at what I found at first glance, but I didn’t have much time to read it. She double-checked that our pediatrician’s information was correct, but it wasn’t. We had a name of a good pediatrician from our OB, but when we called to book an appointment we couldn’t get in to see him, so we opted for someone else, and the clinic didn’t have the name of our new doctor, they had the one we couldn’t get.
When we left the clinic my mind was racing. Why were they doing this test again? Was it because the sample was bad, like she said, or was there something more to it? Why was HMG written on the form, and why was it a different form than they usually get at the clinic? What if the lab tried contacting the pediatrician we had listed, but since we weren’t his patient they kicked it back to the public health clinic? And why when the nurse told us that everything was fine did she say it in a way that made me feel like she just didn’t want to deal with a stressed out parent (she was a mousey little thing that didn’t seem confident with anything she told us that day)?
I went home and Googled HMG. I had already briefly skimmed a page and learned that it was a genetic disorder caused by receiving a mutated gene from both parents. “People with organic acid disorders cannot break down protein properly. This causes harmful substances to build up in their blood and urine. These substances can affect health, growth and learning.” Great… awesome… I read on. “Babies with this condition are usually healthy at birth. Most babies start to have symptoms between 3 months and two years of age.” Okay, well, that’s crap. Broderick seems like a normal baby right now, but that means nothing because he could have this thing and not be showing symptoms yet (he was 9 days old). “If not treated, many babies with HMG lyase deficiency die during their first metabolic crisis. In surviving babies, repeated episodes of metabolic crisis can cause brain damage. This can result in life-long learning problems or mental retardation.” ARE YOU KIDDING ME?! So he could have a metabolic crisis and die?! Oh, and look at this, people with the disorder need to eat every 4-6 hours or else they can go into metabolic crisis. Oh, and they have to limit things high in protein such as:
- milk and dairy products
- meat and poultry
- fish
- eggs
- dried beans and legumes
- nuts and peanut butter
- butter, margarine, oil, lard, and foods made with these fats
Well, that’s just great. I kept telling myself not to freak out, since this is a rare condition, but that nurse did absolutely nothing to reassure me that everything would be fine. I even found a forum posting from someone who just had their daughter diagnosed with the condition. I had already figured out that what we were going through wasn’t normal, but I tried to keep it together. We had an appointment with our pediatrician the following Thursday, and I figured we’d be clear if we hadn’t heard anything more by then.
That night my mom called to chat, and I told her that they needed another blood sample because the first one wasn’t good. For a reason I’ll never know, my mom decided to tell me about her friend who had a baby and the blood sample didn’t get to the lab within the 30 days needed, and there ended up being a problem. Her daughter had a genetic disorder where she couldn’t process certain things in her body, she has to be on a special diet, and there can be all kinds of complications (she didn’t know the name of the disorder her friend’s daughter had). I nearly lost it on her. Why on Earth would she tell me a horror story like this?! That sounded like HMG to me, something which is supposed to be rare, but her friend’s daughter may have it?! I started to get worried again.
On Tuesday, January 10 I answered the phone, and the voice on the other end said “Hi, is this Broderick’s dad? I’m your pediatrician…” I think I actually said “Fuuuuuuuuuuuck meeeeeee” into the phone. This was the second time I got the call I didn’t want. She explained that something had come up and that they needed a urine sample from Broderick ASAP. I felt like someone had plunged their hand into my stomach and ripped every organ out of my body. I was empty inside; completely gutted. I managed to hold it together on the phone and got the information we needed; we had to go to the University hospital ASAP and a requisition form would be waiting for us, because they were going to run the tests the next day. She gave me her cell number, and the number of the doctor working in the newborn screening office in case we had any problems. We also got our appointment bumped to Wednesday, instead of Thursday.
I went upstairs to where Broderick and Kat were sleeping, and I lay on the bed beside him and cried. It was the hardest cry I’ve had in a long, long time. He was sound asleep, looking like a little angel. How could we be in this situation? Kat woke to me crying and I told her about the call, and how we had to get to the hospital soon and they would run tests on him, and then I went to get ready.
We got to the hospital and found the lab, grabbed a number and waiting for an hour before we were called. The nurse told us that they’d be taking another blood sample, but didn’t mention anything about a urine sample, so I asked about it. She looked at the form and went away to talk to someone else, and when she came back she wasn’t sure exactly what was going on. Was it a blood sample, or a urine sample? They seemed completely clueless. I pulled out my cell and called the number I was given for the doctor at the lab. She wasn’t there, but her colleague told me that she’d find her and send her to the lab to straighten everything out. A few minutes later she arrived to tell the nurses that it was both a blood AND urine sample that was needed, and I had a chance to talk to her.
She explained that when they tested they found Broderick’s levels were high, but still borderline for having HMG, so they needed to do these followup tests. I asked a bunch of questions and learned that HMG is extremely rare (I had read it was 1:100,000 online), and that they’ve never actually had a confirmed case of the disorder in the lab, so she couldn’t tell me how rare it was. That was the first good news I had heard. She also said that this is a test which returns a lot of false positives (not in terms of numbers, but that every “hit” they get turns out to be incorrect). More good news. The nurse took his blood test, but we couldn’t get him to pee, so we took the collection container home.
The next day I took the urine sample back to the hospital, and I had a chance to talk to the doctor some more. I asked about the various levels; what was the cutoff for them to be concerned, what were his levels for the first two tests, and what’s the level where someone definitely has the condition? The “red flag” level was 0.7 units. His first test was at 0.77, and his second was 0.76, but people that have the condition are at 0.9 or higher. This was extremely good news, because although he was higher than 0.7, he was much lower than 0.9. This is an all-or-nothing disorder; you can’t “sort of” have it, you either have it or you don’t. I also asked how common it was for someone to be flagged, and she told me they had another sample flagged a few weeks earlier, but it had been months before that they had another one. Finally, for the first time in over a week, I started to relax. She told me that they would run the samples and get back to me on Friday afternoon.
Yesterday, on Friday the 13th, I got the call I was hoping for – everything is good, and he doesn’t have HMG. Our pediatrician appointment went well, and she told us he’s a very healthy boy – nothing to be concerned about at all.
I wish we had received the first call from the doctor at the lab because she was the only one that could tell us what was going on. The nurse who took the second test could have told me the sky was blue and I would have doubted her just because of her mannerisms. She was meek, and didn’t sound confident in anything she told us. The doctor could have told us what the levels were and I wouldn’t have been stressed out, but unfortunately that’s not how things played out, and I spent a week worrying that my little guy had a genetic disorder that would impact his entire life.
Welcome to fatherhood.
Gordovision - Random Thoughts from Gord Lacey 