The Hell We Went Through

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.

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9 Comments

  1. awww, Gord. First of all, I’m am SO happy to hear that everything is okay with Broderick, what a huge, huge, relief. Give him a big hug and a kiss from me! Second, my heart breaks that you and Kat had to go through this. Seriously, as a new parent myself it brings tears to my eyes and wrenches at my gut just thinking about the worry you guys went through. I can’t even imagine. It’s so frustrating when you feel like you’re not getting the care or information you need from the health system – especially for something as serious as this. It took 3 visits for the Dr to realize there actually was something up with Alice’s belly button – 2 months later! So even when things aren’t serious, I find I’m constantly disappointed with amount of information I’m given.

    Hugs to you and Kat!! Just be thankful everything is okay and, I think you’re right, welcome to the first of many worries and the joy that is parenthood. Oi. Call my husband if you need some video game time to escape πŸ˜‰

  2. jamie

     /  January 14, 2012

    all’s well that ends well Gordo! not to make light of what you went thru, but glad that the outcome was super-positive! false-positives suck, but what really sucks more is the other end of the spectrum. you’ll be a good dad. be prepared to be let down by the medical profession until the end of time…i’m in it, and we’re just people who make mistakes and have our own issues, but we do our best (hopefully). find someone you trust and hang on to them. all the best man!

  3. Danielle Cuthbertson

     /  January 14, 2012

    Hey Gord and Kat, I am so glad to hear that everything turned out okay for the three of you. Unfortunately your experience is not that uncommon in that a bunch of these tests they run when you are pregnant or have a new baby are not exact and it is all about ranges. We actually had a scare when I was pregnant that turned out to be nothing but we went through the same hell you have over the past few weeks so we totally feel for you guys!!!! I think the best things you can take away from this experience is that you need to do whatever it takes to get the answers you need when dealing with the medical system we have, the greasy wheel gets the results in our society otherwise you are just left wondering all the time. Also unfortunately this is just one of the many times you will be challenged as a parent over the next number of years, it has extreme highs and lots of lows as well, but when they smile at you you can forget a lot of the lows. Take care the three of you and keep in touch.

  4. This sounded so scary! Glad to hear that Broderick is a very healthy boy πŸ™‚

  5. Dave Lambert

     /  January 14, 2012

    For those of you who know about Gord’s job, you’ll perhaps recognize my name as the one and only guy who works with him (and for him) day-in and day-out. And this has been for 10 years now, so we’re not just colleagues but friends. When my only son – about to turn 14 this month – had a ruptured appendix a couple of summers ago, Gordo was there for me in every possible way…except face-to-face; we’ve never EVER met in person as he lives in Edmonton, Alberta, Canada and I live in Memphis, Tennessee, USA. But we call, IM, email, even videochat from time to time. We’re far apart, but close.

    As his co-worker, Gord felt obliged to fill me in on the above as it happened, so I would understand why he was taking off for the doctor so much and why he’d be unavailable for work stuff. Hey, as a father myself I remember all the energy that goes into being a new parent, and I figured he’d be too busy being a new dad anyway to put in more work than he absolutely had to for a little while. He didn’t owe me any explanations. But I was grateful to be in-the-know a bit, and for the opportunity as a friend to let him lean on me and reassure him that things would be all right. When my son was born, he had a few issues which included jaundice and possible kidney damage. We were at the pediatrician’s office once a week for a couple of months. Everything turned out just fine.

    So I tried to tell Gord that everything would be just fine. We were IMing each other at the moment he originally found out how rare this HMG can be, and I told him that this is a no-brainer; don’t worry with it, because he’s got a better chance of winning the grand prize on the lottery than his son turning out to have this thing. And then things seemed to get worse…but what could I do except reassure him again? After all, he’s already upset over this, so I wanted to make him feel better. Right? Uh, well, then things didn’t seem to be going away after all. Wow. What to say at that point except “holy hell, Gord, I’m sorry this is happening. I hope things will be okay!” It gets to a point where you don’t know what to say anymore, and you know that the person with the problem isn’t asking for solutions but just wants to get things off their chest. So I tried to do just that for him…but it’s really hard when you’re literally 2000 miles away!

    Yesterday when I got the word from Gord and Kat that little Brody was cleared and would be okay, I probably was almost as elated as they were! I mean, I’ve known Gord a long time now. I knew him when he first began dating Kat, when she became a Canadian citizen, when they got married, when they found out she was pregnant. I am soooo glad my reassurances and predictions of Brody’s good health in this matter turned out to be right. But I was soooo scared. Not about being wrong, but about what would the kid be going through if this turned out to be happening? And what Kat and Gord would go through, of course! For everyone’s sake I am SO glad it turned out well. But at the same time my heart goes out to people every day whose kids are born with some sort of issue. My wife was born with a birth defect, in fact, that required multiple operations as an infant for her to overcome. I’ve always respected my mother-in-law so much for what she went through to take care of her daughter. I know that Gord and Kat will do no less for Brody. I can already tell they’ll be awesome parents: look how much they care! πŸ™‚

  6. Stephanie Prange

     /  January 14, 2012

    Oh Gord, we had a horrible experience like this before Mia was born. Some blood test showed something. Scared us to death. Was the worst week of my life. But now Mia is 9 and smart as a whip and healthy as a horse.

  7. Wow. So So Glad everything is well with the little Broderick. I wanted to just skip most of your blog to the end and just know that he was alright. There is nothing scarier than thinking your child’s health is at risk. Makes your heart hurt to think of parents who aren’t lucky to have these stories end with a happy ending. Unfortunately parenthood throws some of these scares at us every now and then. So far I’ve been blessed to have all of my scares turn out alright and my children have been healthy.

  8. Yikes, man. I’m glad it all worked out, but sorry you had to go through this. Welcome to parenthood: curve-ball city.

  9. So relieved it worked out okay. PHEW!

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