"Nearly all the best things that came to me in life have been unexpected, unplanned by me." -Carl Sandburg
My name is Rachel Martens, I'm a 34 year old mom living a rather unexpected life. Wanting to start a family was the dream of course after finding the man of my dreams. (Will be married 11 years this August!) I had a completely uneventful pregnancy other than the usual symptoms that all moms seem to forget happen then want more babies.
My first ultrasound should have been a red flag. This being my first pregnancy, it was very much planned and to have my baby measure a month behind in size, I let my naivety get in the way. The math was off bumping my due date back a month. But who was I to know, I had never had a baby before! My midwife didn't seem overly concerned either so we continued on.
My name is Rachel Martens, I'm a 34 year old mom living a rather unexpected life. Wanting to start a family was the dream of course after finding the man of my dreams. (Will be married 11 years this August!) I had a completely uneventful pregnancy other than the usual symptoms that all moms seem to forget happen then want more babies.
My first ultrasound should have been a red flag. This being my first pregnancy, it was very much planned and to have my baby measure a month behind in size, I let my naivety get in the way. The math was off bumping my due date back a month. But who was I to know, I had never had a baby before! My midwife didn't seem overly concerned either so we continued on.
I have no pictures of when he was first born... still hurts to write that. Making his debut into the world at 36 weeks according to my original due date came Luke Nicholas Martens. Weighing in at a whopping 3lbs, 7oz and 16 inches long, he was a veritable conundrum to doctors.
He looked like a preemie, but behaved according to behavioral testing like a 36 weeker. He had various facial and physical anomalies consistent with some sort of genetic issue. But for his size he was strong, his apgar scores were an 8 and a 9.
After delivering, I found myself making plans for a possibly lengthy, very unexpected stay in the NICU. I moved into my sister in-law Kim's apartment as I was battling post-partum depression and was trying to stay sane for what was required of me.
Commuting back and forth from the hospital, being asked a million questions from a sea of endless specialists, looking after this little stranger that required so much of me left me a shell of a human being for a time. But every day he was gaining weight, his vitals were stable, the promise of going home soon seemed all the more a realistic event.
He looked like a preemie, but behaved according to behavioral testing like a 36 weeker. He had various facial and physical anomalies consistent with some sort of genetic issue. But for his size he was strong, his apgar scores were an 8 and a 9.
After delivering, I found myself making plans for a possibly lengthy, very unexpected stay in the NICU. I moved into my sister in-law Kim's apartment as I was battling post-partum depression and was trying to stay sane for what was required of me.
Commuting back and forth from the hospital, being asked a million questions from a sea of endless specialists, looking after this little stranger that required so much of me left me a shell of a human being for a time. But every day he was gaining weight, his vitals were stable, the promise of going home soon seemed all the more a realistic event.
Our NICU stay was a drop in the bucket in comparison to other people's experiences, a mere 3 weeks. We let lingering questions be set aside for a spell and just enjoyed our time home.
I took Luke to see our family doctor for follow-up when I was given some very important advice. You see, we lived in a small city in southern Manitoba at the time. In most cases, a basic doctor would suit any new parent's needs. I'm thankful for what she had to say which was no small-practice doctor would be willing to touch my son with a 10 foot pole. We needed to move to a larger city and as soon has humanly possible to get him better care.
So we picked up and moved ourselves to Winnipeg for which we had no regrets. We knew it was going to be some time before we would get a diagnosis for him. In the interim, we now had access to occupational therapy and physio to help get Luke a better start. It became quite apparent that I would be unable to work in order to keep up with his therapy and doctor appointments.
Had to get very good at pushing aside those lingering questions as finally christmas eve day, I get a phone call from the genetics department. We have a diagnosis! He couldn't say anything over the phone but we'll see you in person in February! AAaaaaaaaa!
I took Luke to see our family doctor for follow-up when I was given some very important advice. You see, we lived in a small city in southern Manitoba at the time. In most cases, a basic doctor would suit any new parent's needs. I'm thankful for what she had to say which was no small-practice doctor would be willing to touch my son with a 10 foot pole. We needed to move to a larger city and as soon has humanly possible to get him better care.
So we picked up and moved ourselves to Winnipeg for which we had no regrets. We knew it was going to be some time before we would get a diagnosis for him. In the interim, we now had access to occupational therapy and physio to help get Luke a better start. It became quite apparent that I would be unable to work in order to keep up with his therapy and doctor appointments.
Had to get very good at pushing aside those lingering questions as finally christmas eve day, I get a phone call from the genetics department. We have a diagnosis! He couldn't say anything over the phone but we'll see you in person in February! AAaaaaaaaa!
Diagnosis day! We found out Luke was born with a very rare chromosome disorder called Mosaic Trisomy 22. It wasn't anything we did, it's a spontaneous occurence in pregnancy. The geneticist tells us that at the end of the day, I'll probably know more about it than what he did. I got a stack of medical journal previews and a website address and we were sent on our way.
The best information I can come up with is comparisons through its sister diagnosis complete trisomy 22. I have come across no solid info on MT22, just studies on individuals. (He does not have complete trisomy but they're the only numbers I have.) With complete trisomy the incidences of it occurring are 1 in 30,000 to 50,000. Complete trisomy 22 accounts for approximately 25% of all miscarriages.
Luke's first two years of life consisted of specialist after specialist. I did a count at the time of how many people he had seen from varying departments from birth to age 2 and the number edges very close to 50. Not having any answers was painful, but we worked hard to live in the knowledge that he was stable and that brought some peace.
The best information I can come up with is comparisons through its sister diagnosis complete trisomy 22. I have come across no solid info on MT22, just studies on individuals. (He does not have complete trisomy but they're the only numbers I have.) With complete trisomy the incidences of it occurring are 1 in 30,000 to 50,000. Complete trisomy 22 accounts for approximately 25% of all miscarriages.
Luke's first two years of life consisted of specialist after specialist. I did a count at the time of how many people he had seen from varying departments from birth to age 2 and the number edges very close to 50. Not having any answers was painful, but we worked hard to live in the knowledge that he was stable and that brought some peace.
The age of two brought a rather unexpected change. Two days after his second birthday, he quit sleeping. Soon after that his ability to eat and swallow decreased tenfold. His interest in playing with toys was entirely gone.
With the sleeping, he was going 8-9 hours up at night and only making up for the lack of sleep with a nap of anywhere from 20 minutes to 1 1/2 hours. Nick and I were both pretty much ready to jump off a bridge. Before that even became a real consideration, I took him to see his pediatrician and we got a referral to a sleep clinic.
Luke does not get a REM cycle. Ever heard the phrase "can't sleep, can't turn my brain off"? It's quite a literal thing for him as a REM cycle assists the brain in offloading your day so you can rest at night. Our only solution thus far has been to medicate him heavily with anti-psychotic medication and even six years later I can tell you it's not a perfect solution.
Now I've worked with kids on the autism spectrum off and on for over a decade. I can tell you that regression (losing developmental milestones) that include loss of physical abilities is not a standard description for getting an autism diagnosis. But we acquired a diagnosis of PDD to help him further. What exactly happened to him remains a medical mystery.
With the sleeping, he was going 8-9 hours up at night and only making up for the lack of sleep with a nap of anywhere from 20 minutes to 1 1/2 hours. Nick and I were both pretty much ready to jump off a bridge. Before that even became a real consideration, I took him to see his pediatrician and we got a referral to a sleep clinic.
Luke does not get a REM cycle. Ever heard the phrase "can't sleep, can't turn my brain off"? It's quite a literal thing for him as a REM cycle assists the brain in offloading your day so you can rest at night. Our only solution thus far has been to medicate him heavily with anti-psychotic medication and even six years later I can tell you it's not a perfect solution.
Now I've worked with kids on the autism spectrum off and on for over a decade. I can tell you that regression (losing developmental milestones) that include loss of physical abilities is not a standard description for getting an autism diagnosis. But we acquired a diagnosis of PDD to help him further. What exactly happened to him remains a medical mystery.
It's been a mysterious albeit lengthy journey to get him to the age of seven! Since those younger years, we have moved to two different provinces to get him help. He's endured spinal surgery, feeding tube placement and two ischemic strokes due to severe anemia.
Why do I share this with you? Nobody expects to take a journey like this. Nobody expects to make their local children's hospital a second home. Nobody expects to be told their child has a life-limiting illness. Children don't go saying, "gee, I can't wait to spend 4 hours in oncology getting iron infusions!". Kids just want to be kids, and I want to share what it takes to make a beautiful life for my son amidst it all.
If your story is similar to mine, you are so not alone!! I want you to see the that there is a unique beauty even in the darkest moments! I hope our experiences as a family can help you find support you can relate to.
If this is a life that is completely foreign to you, perhaps there is someone you know in a similar position. I know it can make it hard to know what to say to those people in your life. Please continue to read in order to understand what might be going on in their world and how to help. I can assure you they are probably looking for it even though they might not have the words.
Thanks so much for taking to time to follow Luke's story!!
Why do I share this with you? Nobody expects to take a journey like this. Nobody expects to make their local children's hospital a second home. Nobody expects to be told their child has a life-limiting illness. Children don't go saying, "gee, I can't wait to spend 4 hours in oncology getting iron infusions!". Kids just want to be kids, and I want to share what it takes to make a beautiful life for my son amidst it all.
If your story is similar to mine, you are so not alone!! I want you to see the that there is a unique beauty even in the darkest moments! I hope our experiences as a family can help you find support you can relate to.
If this is a life that is completely foreign to you, perhaps there is someone you know in a similar position. I know it can make it hard to know what to say to those people in your life. Please continue to read in order to understand what might be going on in their world and how to help. I can assure you they are probably looking for it even though they might not have the words.
Thanks so much for taking to time to follow Luke's story!!