Mason was born full term, weighed 8 lbs, 10 oz and was 19.5" in length. While pregnant with Mason, I experienced pre-term labor at 27 weeks and was put on bed rest for the rest of the pregnancy. He was delivered via a scheduled c-section which went very smoothly. Mason's first APGAR score was a 2 but within a few minutes his score jumped to a 9.
Mason didn't experience any other complications immediately after birth. He came home from the hospital with us at four days old. During his first six months, the main problem we continued to struggle with was Mason's ability to nurse and or bottle feed. We tried every possible brand of bottle and nothing seemed to work. Nursing wasn't much better - he could eat but only a little at a time and feedings took forever. It was like he couldn't keep up with the flow of the bottle or breast - no matter what we tried. However, he did manage to gain enough weight during this time that there were no obvious red flags besides a stressed out, confused mom :) Once we started baby food, spoon feeding helped a lot and things started to get easier.
When Mason turned a year, I started to worry that he wasn't reaching the appropriate developmental milestones for his age. He didn't sit up until 8 months. Crawling and cruising didn't start until about a year which is normal. However, around 14 months we started to noticed asymmetry in his back when he was sitting in the bathtub - his spine looked curved. His balance when standing was not very good and he showed no interest or confidence in trying to walk. I think that the trickiest part of all of this is that the range of normal for infants and toddlers is pretty vast. Babies achieve their milestones at very different ages. We suspected that something was going on but there just weren't enough red flags yet based on the evaluations done by his providers.
At 15 months, Mason was hospitalized because of a viral illness that caused high fever and dehydration. We never determined what viral illness caused him to get so sick so fast. He spent four days in the hospital where he received IV fluids until the fever finally broke. One of the first things I realized during that hospital stay was that Mason was finally having wet diapers because of the IV fluids. It was then that I realized how complacent we had become about his poor fluid intake. I realized that we rarely ever change his diaper because he is wet. When we left the hospital I was convinced that something bigger was going on and I was determined to figure this out ASAP. Over the next few weeks Mason was evaluated by three different speech pathologists and a physical therapist. The most overwhelming part of that experience was the fact that each one of these specialists would see him for the first time and instantly make comments about his eye drooping, his poor muscle tone and his open mouth. These "red flags" had been going on for months but none of the general practitioners we were seeing before had picked up on these issues. At first I was frustrated that it took so long to get to the right doctors... but I quickly realized that there aren't enough hours in the day to be mad and take care of my boys and all of these new health issues. We needed to focus on moving forward, finding answers and getting treatment.
Mason didn't experience any other complications immediately after birth. He came home from the hospital with us at four days old. During his first six months, the main problem we continued to struggle with was Mason's ability to nurse and or bottle feed. We tried every possible brand of bottle and nothing seemed to work. Nursing wasn't much better - he could eat but only a little at a time and feedings took forever. It was like he couldn't keep up with the flow of the bottle or breast - no matter what we tried. However, he did manage to gain enough weight during this time that there were no obvious red flags besides a stressed out, confused mom :) Once we started baby food, spoon feeding helped a lot and things started to get easier.
When Mason turned a year, I started to worry that he wasn't reaching the appropriate developmental milestones for his age. He didn't sit up until 8 months. Crawling and cruising didn't start until about a year which is normal. However, around 14 months we started to noticed asymmetry in his back when he was sitting in the bathtub - his spine looked curved. His balance when standing was not very good and he showed no interest or confidence in trying to walk. I think that the trickiest part of all of this is that the range of normal for infants and toddlers is pretty vast. Babies achieve their milestones at very different ages. We suspected that something was going on but there just weren't enough red flags yet based on the evaluations done by his providers.
At 15 months, Mason was hospitalized because of a viral illness that caused high fever and dehydration. We never determined what viral illness caused him to get so sick so fast. He spent four days in the hospital where he received IV fluids until the fever finally broke. One of the first things I realized during that hospital stay was that Mason was finally having wet diapers because of the IV fluids. It was then that I realized how complacent we had become about his poor fluid intake. I realized that we rarely ever change his diaper because he is wet. When we left the hospital I was convinced that something bigger was going on and I was determined to figure this out ASAP. Over the next few weeks Mason was evaluated by three different speech pathologists and a physical therapist. The most overwhelming part of that experience was the fact that each one of these specialists would see him for the first time and instantly make comments about his eye drooping, his poor muscle tone and his open mouth. These "red flags" had been going on for months but none of the general practitioners we were seeing before had picked up on these issues. At first I was frustrated that it took so long to get to the right doctors... but I quickly realized that there aren't enough hours in the day to be mad and take care of my boys and all of these new health issues. We needed to focus on moving forward, finding answers and getting treatment.
Mason was referred to Children's Memorial Hospital in August because of the curve in his spine, his speech delay and poor swallow. Our pediatrician started to prepare us for the fact that Mason's condition was probably more serious - some type of rare dystrophy or syndrome. I spent every evening researching his symptoms. Everything terrified me and I was convinced that somehow, I could determine what condition was responsible for his symptoms. I learned very quickly that there so many different possibilities. And after all - I am not a doctor :) After weeks and weeks of researching his symptoms, I decided to let it go, to pray and to let God do his work.
By September, the team of doctors at Children's Memorial Hospital in Chicago had determined that Mason has a rare neuro-muscular transmission disease called Congenital Myasthenic Syndrome. XRays confirmed a 34 degree curve in Mason's spine. Since September, Mason has been fitted for both a Benik vest, which he wears 10-12 hours per day and a hard brace which he has just started wearing a few minutes each day but he will be working up to 12 hours. We have also started chemical therapy - with a drug called Mestinon which Mason is taking every 4 hours. Mason also receives physical therapy, speech therapy, occupational therapy and developmental therapy every week in our home by licensed therapists through the Early Intervention Program in our local county. We spend a lot of time driving back and forth to Children's Hospital for appointments with neurology, orthopedics, opthamology, his pediatrician, etc. It seems lately we have at least one or two medical appointments each week which has been hectic but eventually it will slow down.
There are many different possible genetic markers associated with CMS and there is only one lab in the country that does genetic sequencing for the disease. So far, the first two rounds of genetic testing have been negative but there are several more to test and insurance requires that the tests be done one at a time in hopes of minimizing cost. So far the waiting time is almost 6-8 weeks to receive results from each genetic test. If and when we can determine what gene is affected, we hope to get a better idea of Mason's long-term prognosis and what other drug therapies might be available for him to try.
In the mean time... we wait, we get through each day and we pray.
