Our Story
I knew I was going to be a "Mom" at a very young age. Being the eldest of four, I had plenty of practice. So when my husband and I discovered I was pregnant, I was ecstatic! I vowed to do everything right. I ate healthy, exercised, attended every prenatal visit religously, and read every new baby book available. I was prepared, I am a planner after all. My plans, however didn't account for any detours...but then life throws you those when you least expect them.
My first detour landed me in the hospital with 43 hours of intense labor. That was most definately not in the original plan. I thought I'd birth the natural way, like my mother had. Boy, do I have a renewed respect for her! But, as they say, almost all difficult and painful life experiences bring growth and my beautiful little boy made it all worth it. NIKO, 6 lbs 6 oz, head like a cone, but what do you expect after 43 hours of navigation! I was finally a Mom; we had a son - everything was perfect.
There was always anticipation of sleepless nights and spit up, but the next few months made me a candidate for Return of the Zombie. Niko never slept or napped, averaging 4 hours a day for the first 9 months of his life. It was as if his body couldn't regulate when he was tired... something wasn't right. Niko also screamed hysterically for hours at a time, arching and writhing with no relief. Niko acted as if in constant pain. He literally spit up everything he ate, constantly gagging and choking. First I was told it was colic, then acid reflux..I held on to the catchall that all the doctors gave me...'wait it out a few more weeks and he will get better'..or my personal favorite, 'you must be a first time Mom'. No one listened and no one believed the intensity of the situation. We started him on GERD medicine, which offered only minimal relief.
I began to beat down the pediatricians door, inundated their email box, and researched until the wee hours of the morning...I was up after all! Niko was getting worse and now was refusing to eat solids. He plateued at just below the 5th percentile for his age group and his eating and speech issues became more problematic. Mealtime had become a circus act; getting him to eat just one bite required creative distractions. He had no interest in food. His poor communication ability catapulted terrible behavior outburts and obsessive behaviors and there was nothing to calm him once agitated. I couldn't do the most primal of a Mothers Role; to soothe and to feed. My little boy was trying to tell me something and amidst all his struggles, he was always the most social and sweet little guy - what a trooper!
I requested, and then demanded, every test possible, nothing came of them. I researched and discovered something called Sensory Processing Disorder, which explained some of Niko's issues around feeding and self calming. I literally had to argue for special services for Niko...finding an experienced Occupational Therapist that dealt with SPD and getting an outside referral.
At 18 months Niko had a genetic test that diagnosed him with 1q21.1 Microdeletion Syndrome. What's 1q21.1? Boy, do I wish someone could have answered that for me then. No Dr had even heard of it and the Genetic Specialist we were referred to only had an internet handout to offer - this was so rare! This detour initiated my next series of research. Part of Niko's Chromosome 1 was deleted, and along with that deletion came a plethora of problems ranging from Mental Retardation, Heart Defects, Small Growth and Developmental Delays. We were fortunate, however. After numerous anxiety provoking tests, Niko is considered a mild case - only presenting with small growth, small head circumference, feeding and sensory issues, hypotonia and balance issues, behavioral outbursts, slight delays and sleep disturbances. My husband and I were both tested and we did not pass this down to our son, considered a 'de novo' case.
Finally, we had an answer, but still no real help or explanation. Niko now has Occupational Therapy which has been vital with his eating and motor skills, Speech Therapy helping with his language and communication and Early Intervention helping with basic life skills and social interaction. Geneticists, a Behavioral Neurologist, and a new Pediatrician complete his team of specialists to help support the problematic issues. Once I can get a Behaviorist on board, he will finally be getting some of the care he deserves - just because this is a rare syndrome doesn't lend to laziness on the healthcare systems part. These days you have to be proactive and do all the footwork because some doctors don't have the time or interest to follow through. Researching online and contacting a Doctor outside of my network who was familiar with this deletion was instrumental in affirming my initial suspicions that something was wrong with Niko.
I had no idea when I held baby Niko two years ago in that hospital room that there would be such tumultous and unnecessary hurdles I would have to cross; but if there is a lesson to learn, it's to always trust your gut feeling and fight for what you know is right for your baby. I know I am more understanding and confident in my motherhood because of all these medical issues we have had to experience. I know that advocation is a big part of who I am now, educating others, understanding that those who haven't experienced this really 'don't know' and that's ok,...challenging everything, always putting Niko first and offering support to those who are in similar situations. Connecting with other mothers with children who have 1q21.1 has been an immense help, thanks to the internet!
I have come to the realization that I will need to play up the bags under my eyes; cause they are here to stay....although I am even grateful for those, because just as my labor proved worthwhile, so has my dedication to Niko's care. He is getting better, slow as it may be. Each day I feel he is getting better. Some days are much harder than others. I still do a cartwheel when he eats and swallows a bite of food, because each bite is a step closer to being better. There are things we need to watch for in the future with Niko, but I know that worrying about them beforehand won't help either. I am the luckiest Mom in the world to be given such a wonderful and smart little boy, and now that we know what he's been trying to tell us, I am positive we can nurture him better, learn from him and grow as a family because of him.
I knew I was going to be a "Mom" at a very young age. Being the eldest of four, I had plenty of practice. So when my husband and I discovered I was pregnant, I was ecstatic! I vowed to do everything right. I ate healthy, exercised, attended every prenatal visit religously, and read every new baby book available. I was prepared, I am a planner after all. My plans, however didn't account for any detours...but then life throws you those when you least expect them.
My first detour landed me in the hospital with 43 hours of intense labor. That was most definately not in the original plan. I thought I'd birth the natural way, like my mother had. Boy, do I have a renewed respect for her! But, as they say, almost all difficult and painful life experiences bring growth and my beautiful little boy made it all worth it. NIKO, 6 lbs 6 oz, head like a cone, but what do you expect after 43 hours of navigation! I was finally a Mom; we had a son - everything was perfect.
There was always anticipation of sleepless nights and spit up, but the next few months made me a candidate for Return of the Zombie. Niko never slept or napped, averaging 4 hours a day for the first 9 months of his life. It was as if his body couldn't regulate when he was tired... something wasn't right. Niko also screamed hysterically for hours at a time, arching and writhing with no relief. Niko acted as if in constant pain. He literally spit up everything he ate, constantly gagging and choking. First I was told it was colic, then acid reflux..I held on to the catchall that all the doctors gave me...'wait it out a few more weeks and he will get better'..or my personal favorite, 'you must be a first time Mom'. No one listened and no one believed the intensity of the situation. We started him on GERD medicine, which offered only minimal relief.
I began to beat down the pediatricians door, inundated their email box, and researched until the wee hours of the morning...I was up after all! Niko was getting worse and now was refusing to eat solids. He plateued at just below the 5th percentile for his age group and his eating and speech issues became more problematic. Mealtime had become a circus act; getting him to eat just one bite required creative distractions. He had no interest in food. His poor communication ability catapulted terrible behavior outburts and obsessive behaviors and there was nothing to calm him once agitated. I couldn't do the most primal of a Mothers Role; to soothe and to feed. My little boy was trying to tell me something and amidst all his struggles, he was always the most social and sweet little guy - what a trooper!
I requested, and then demanded, every test possible, nothing came of them. I researched and discovered something called Sensory Processing Disorder, which explained some of Niko's issues around feeding and self calming. I literally had to argue for special services for Niko...finding an experienced Occupational Therapist that dealt with SPD and getting an outside referral.
At 18 months Niko had a genetic test that diagnosed him with 1q21.1 Microdeletion Syndrome. What's 1q21.1? Boy, do I wish someone could have answered that for me then. No Dr had even heard of it and the Genetic Specialist we were referred to only had an internet handout to offer - this was so rare! This detour initiated my next series of research. Part of Niko's Chromosome 1 was deleted, and along with that deletion came a plethora of problems ranging from Mental Retardation, Heart Defects, Small Growth and Developmental Delays. We were fortunate, however. After numerous anxiety provoking tests, Niko is considered a mild case - only presenting with small growth, small head circumference, feeding and sensory issues, hypotonia and balance issues, behavioral outbursts, slight delays and sleep disturbances. My husband and I were both tested and we did not pass this down to our son, considered a 'de novo' case.
Finally, we had an answer, but still no real help or explanation. Niko now has Occupational Therapy which has been vital with his eating and motor skills, Speech Therapy helping with his language and communication and Early Intervention helping with basic life skills and social interaction. Geneticists, a Behavioral Neurologist, and a new Pediatrician complete his team of specialists to help support the problematic issues. Once I can get a Behaviorist on board, he will finally be getting some of the care he deserves - just because this is a rare syndrome doesn't lend to laziness on the healthcare systems part. These days you have to be proactive and do all the footwork because some doctors don't have the time or interest to follow through. Researching online and contacting a Doctor outside of my network who was familiar with this deletion was instrumental in affirming my initial suspicions that something was wrong with Niko.
I had no idea when I held baby Niko two years ago in that hospital room that there would be such tumultous and unnecessary hurdles I would have to cross; but if there is a lesson to learn, it's to always trust your gut feeling and fight for what you know is right for your baby. I know I am more understanding and confident in my motherhood because of all these medical issues we have had to experience. I know that advocation is a big part of who I am now, educating others, understanding that those who haven't experienced this really 'don't know' and that's ok,...challenging everything, always putting Niko first and offering support to those who are in similar situations. Connecting with other mothers with children who have 1q21.1 has been an immense help, thanks to the internet!
I have come to the realization that I will need to play up the bags under my eyes; cause they are here to stay....although I am even grateful for those, because just as my labor proved worthwhile, so has my dedication to Niko's care. He is getting better, slow as it may be. Each day I feel he is getting better. Some days are much harder than others. I still do a cartwheel when he eats and swallows a bite of food, because each bite is a step closer to being better. There are things we need to watch for in the future with Niko, but I know that worrying about them beforehand won't help either. I am the luckiest Mom in the world to be given such a wonderful and smart little boy, and now that we know what he's been trying to tell us, I am positive we can nurture him better, learn from him and grow as a family because of him.