Jan 12, 2021 Latest post:
Jan 13, 2022
My sweet baby boy has been diagnosed with an extremely rare mitochondrial disease. It is a genetic condition caused by a defect in his EARS2 gene. There are about 20 others in the world with this disorder.
We have been told that his prognosis is poor and he will likely die before his first birthday. Sawyer’s brain is significantly impacted by the disease. He is experiencing developmental delays, low muscle tone, weakness, and some seizure activity. He has a lot of trouble with feeding and is currently being tube-fed. He has elevated lactic acid in his body which can cause damage to many of his organs. If his lactic acid level goes too high, his body goes into crisis mode and he starts breathing extremely rapid.
We are obviously heartbroken by this diagnosis 💔 But we want to make Sawyer’s life as wonderful as it can possibly be.
He is rare and he is special and he is ours. We love you soy bean 💙
This is where Sawyer’s story began:
Well I guess I’ll just start at the beginning. . . My sweet baby boy was born October 18, 2020 - the same day as my grandfather who passed away in 2017. It was Sunday afternoon and I had been having contractions pretty close together (3-5 mins). They weren’t super strong so I wasn’t convinced it was real labor 😋. I sent Pat to get me Jimmy John’s and waited anxiously for him to come back, because I thought maybe we should be getting to the hospital. He came back and you better believe I scarfed that sandwich down before we left! Labor was pretty short, and I was holding my healthy baby boy by 6:10 pm. We stayed in the hospital for about a day and a half, then brought our sweet Sawyer home.
Things were going pretty well at home. He had a little bit of jaundice and had to use the phototherapy blanket for a few days, but otherwise, he was eating well and gaining weight. At his one month appointment, he had gained 30 ounces and growth looked beautiful.
Then something changed. Sawyer started having some GI issues, vomiting, and just wasn’t eating as well as he was before. We took him to the doctor to learn that he had dropped from the 17th percentile for weight down to the 8th. Doctors thought maybe it was related to an antibiotic I was taking and it would get better. It didn’t. They thought maybe he had acid reflux so I tried cutting dairy and we started him on Prilosec. He got a little better, but still wasn’t gaining weight as he should. He continued to slowly drop down to the 3rd percentile for weight, and started eating less and less each week. We tried supplementing with formula. We tried 3 different formulas, but nothing was working. Our son was not thriving as he should have been.
At that point, his doctors decided to run some labs to see if anything was off. His liver enzymes - ALT and AST came back high so they ran some more labs and decided to ultra sound his liver. They discovered that Sawyer had a very high level of lactate in his blood and that his liver had some fat build up in it. If you want to really scare the s*** out of yourself, google the causes of elevated lactate. Naturally, I did that and was pretty alarmed. One of his docs called me immediately and explained that the lactate lab is pretty finicky. It can be elevated because of a bad blood draw. Ok, that’s probably what it was, BUT just in case the doctor got in touch with genetics to have a look at Sawyer. They got us an appointment immediately.
12/31/20. After an already crap year, the last day of 2020 was a pretty terrible one. I took my babe to his genetics appointment feeling pretty certain it would be a dead end. Might be good to have another set of eyes on my boy though, since clearly something is going on with him. We talked with the geneticist, had some labs drawn and went back up to the clinic. The geneticist comes in the room 5 minutes later to tell me that Sawyer’s lactate level is still high. . .Ummm what? Wasn’t expecting to get an immediate result, and definitely wasn’t expecting bad news. The geneticist started talking about a number of genetic disorders that could explain this. I couldn’t listen, all I could do was cry. I took my baby home and got a call from the geneticist a bit later in the day. I had had a little time to process what had just happened and I asked him if there was any reason, aside from a genetic disorder, that would cause Sawyer’s elevated lactate. He basically said no. So, I came home from the hospital after delivery with a healthy baby boy and now you’re telling me he has a genetic condition that he will live with for the rest of his life. I’m sorry, what the h*** just happened!?!?! The geneticist also told me that Sawyer would likely need to be admitted to the hospital in the near future for two reasons - 1. Failure to thrive and 2. To run some tests to figure out exactly what is wrong (including genetic testing that takes 4-6 weeks) 😔
We kept him at home the first week of January, then went back for another evaluation with genetics. At that point, we decided to admit Sawyer to the hospital. His lactate continued to be elevated, his overall growth was pretty poor, and he just wasn’t eating very well at all. By this point, genetics had run some labs and were able to narrow their diagnostic differential to a few disorders: glycogen storage disease, mitochondrial disease, or some other ketone thing. I started googling 😭😭😭
I found a lot of scary stuff. A lot of hopeful stuff. But mostly just uncertainty. Would my baby live? Would he have a relatively normal life? Would he graduate from college? Would he have a family? Am I going to be able to work? Who is going to care for him when I can’t? Can he go to daycare? Will he walk? Will he talk? Will I ever see him smile at me? So, so many questions and so few answers.
1/8/21. The plan when we were admitted was to keep him on the diet we had been doing at home - monitor glucose and lactate and establish a baseline. Then switch to soy formula and continue to monitor the labs. The geneticist’s first guess at what this is was glycogen storage disease. The thought was that we would change formulas and see a decrease in the lactate level.
Well, monitoring lab levels requires blood draws and heel pricks. That’s a lot of poking for a little guy, so they decided to put in an arterial line. Ugh. They tried about 4 times over the course of 24 hours and were finally successful. Through all the poking and prodding, Sawyer was exhausted and eating even less than he was at home. This did not sit well with Pat and I, so we opted to get him an NG tube to ensure adequate calories. So now, my baby has a huge ART line in his arm, which is all taped up to a board so he can’t bend it, he has a tube in his nose, a monitor on his foot, and several different leads all over him to monitor his vitals 💔. My poor sweet baby boy 😔
We switched his diet. Lactate went down a little bit, then came back up 🥺🥺🥺 the lack of movement seemed to indicate to our geneticist that this was not glycogen storage disease.
Ok, Glycogen storage disease. . .tough, rare, but I could deal! I’m a dietitian for god sake. Mitochondrial disease was/is one of the other options on the table. Devastating.
1/10/21. With so much uncertainty, my emotional well being was (and is) really deteriorating. Non-stop crying, unable to eat or drink or sleep, endless amounts of time googling and speculating. Sawyer’s NP and neonatologist saw my concern/instability and asked genetics if there was a way to get answers sooner. There was. The rapid genome test. Super expensive ($14,500), but results in 3-5 days. The docs had to write letters to get it approved and the lab had to sign off. By Monday morning, everything was in motion to get this done.
1/11/21. We had a care conference with the neonatologist, NP, nurse, geneticist, palliative care doc (I know, frightening), and the social worker. Overall, it made us feel better to express all of our fears and worries aloud to the entire time. They recommended we take things one day at a time and look for the joy in our situation, which is of course, our sweet baby Sawyer ❤️
1/12/21. Sawyer’s diet was changed to a modified Atkins diet and they started him on carnitine and coenzyme Q supplements. Essentially, they are treating him for mitochondrial disease 😔. Obviously, they don’t know if he has this, but the diet isn’t likely to hurt him in the meantime. While I’m hopeful that this will help bring his lactate down, I’m also devastated.
These are rare and scary diseases we are dealing with. Naturally, I’ve asked the universe 100 times - why my boy? What did he do to deserve this? He’s only a baby!
At this point, we are waiting for the results of the rapid genome test. They get sent to Rady in California and should be back by Friday or Saturday. We are also trying to get his lactate down - which so far has been fairly unsuccessful 🥺😭
Please pray for my baby and for my family. This is the hardest thing we have ever had to endure.