Collin’s Story
by Rebecca Preston
After nine months of a blissful, uneventful pregnancy, our first child was born. Collin was placed on my chest and I was overcome by love for him. He was the most beautiful baby I had ever seen. Within minutes though, I found myself asking the doctor and nurses over and over again, why his cry sounded like a forced screech, why his right eye wouldn’t open, and why his breathing sounded so harsh. I also remember the nurse who laid him on my chest- she seemed to warn me that his tone didn’t seem right as he flexed and stiffened on his way to me and almost stood up on the bed instead of cradling into my arms like a newborn should. Even with this, his apgar scores were 9 and 9 and no one seemed concerned except me, and I was just a paranoid first time mother.
The next two days in the hospital went relatively smoothly. Barring a little jaundice, Collin slept well and nursed well and passed all the mandatory screenings. Each of our 3 days there I asked separate rotating Pediatricians who visited us why his breathing sounded the way it did and why his eye wasn’t opening. They all dismissed my concerns saying his eye was probably from the antibiotic ointment that the newborns get and his breathing was probably from swallowing some fluid during delivery. I was less than reassured, especially since I opted for him not to get the antibiotic ointment after he was born.
After we had been home for a day or two, my peaceful newborn from the hospital was nowhere to be found. Collin cried about 23 hours a day, didn’t want to be held, couldn’t be soothed, and just wanted to be left alone. He didn’t make eye contact with anyone and never searched for me when I wasn’t around. He had a horrible time sleeping- so much so that I remember after 2 or 3 weeks of barely ANY sleep, people started bring us swings, rockers, chairs, soothing music machines…they must have thought we were surely unequipped as first time parents and that had to be the issue. Nonetheless, Collin refused to sleep unless he was in a swing or if someone rocked him and then held him without breathing or moving for a half hour at best.
During this time, we had already begun our affair with Specialists, although we never could have guessed that it was going to grow exponentially in the years ahead. At our first pediatrician visit out of the hospital, I was still concerned about his eye and his breathing. We were sent first to an Ophthalmologist, who diagnosed him with a weak levator muscle on the upper right eyelid, or a droopy eyelid due to weakness. We began patching his eye daily at 10 days old. We saw great improvement over time and it is hardly noticeable now. Down the road though, he also developed intermittent bilateral exotropia, which means that his eyes drift toward the outside every once in awhile. We still patch him daily for this condition to help strengthen the eye muscles. The only other alternative is surgery.
Meanwhile, I was having a terrible time nursing Collin. I was hell-bent on nursing and believed that was the most precious gift I could provide my son. He nursed so nicely (although ineffectively) in the hospital, and although you hear horror stories about breastfeeding, I really thought we had the hang of it. Ha! After we were home, he would arch, scream, try to cry (he STILL didn’t cry normally)…anything to avoid nursing. He would finally give in after hours of struggle out of pure exhaustion and near starvation I’m sure, and then he was too weak to suckle very long before falling asleep. He also developed terrible reflux, which made the whole situation that much worse. He was spitting up most of what he took in and probably in constant pain from the burning in his chest. I was raw, bleeding, and engorged. I even had mastitis at one point with fever and chills. As a pair, we were a mess.
We hired a lactation consultant who came to the house to teach me how to nurse my baby. I was crushed. If there was anything I was supposed to be able to do right after carrying this kid for an eternity, it was to nurse him! She worked with Collin and me for probably 3 hours- in the glider, on the bed; sitting up, laying down, football hold, sideways hold….nothing was working. She was also a Labor and Delivery Nurse and
she would be the second nurse to mention that he didn’t seem ‘quite right’, especially in regards to his muscle tone and his fist clenching. I had no choice but to do the best I could with nursing and buy a double electric breast pump, which I used to pump my milk for Collin for 10 months!
On top of all this, but not surprising, Collin had lost so much weight from ineffectively nursing, refluxing, and burning so many calories crying and fighting all the time, that at his 3 week visit we were still dealing with jaundice and he was deemed Failure To Thrive. My heart sank as I began supplementing my breast milk with formula. Slowly but surely the jaundice resolved and he gained weight little by little. Along with the start
of the formula though, came severe eczema, which we eventually identified as a dairy sensitivity. It took him almost 2 hours to finish a 6oz bottle because of the low tone in his mouth, which we were still blissfully unaware of.
Eventually we made our way to an ENT (ear, nose, and throat doctor) to find out why he had such noisy breathing. They scoped him, which consisted of threading a small camera up his nose and down into his throat to find the problem. Collin was only a couple months old and it was my first heartbreaking experience that I had to subject my precious baby to. The doctor diagnosed him with Tracheomalacia, which is a softening and weakness of the trachea, causing it to sort of flop with air flow, resulting in the stridor that we hear when he breathes. They predicted he would outgrow this by 2, but at almost 4 we still hear it. It is better than it was, but gets really bad anytime he is sick.
At around 3 months of age, things still didn’t seem right. Collin was still very floppy. He wasn’t bearing weight on his feet at all and you had to keep two hands on him at all times when you held him or he would fall backwards. He was also completely unaware of people and remained unengaged with everything. I expressed some concerns to my pediatrician at the time who sent us to a Neurologist. The doctor told me that he wanted to run genetic testing, do an EEG, and get an MRI. I told him I thought he was crazy and
there was no reason to do that. Collin was an adorable baby and there was nothing wrong with him. When I pushed him further on what he was thinking and why he wanted to run all those tests, he told me he thought Collin might have Cerebral Palsy because his legs were scissoring. I left in a huff thinking the man was insane.
Meanwhile, I was having a terrible time nursing Collin. I was hell-bent on nursing and believed that was the most precious gift I could provide my son. He nursed so nicely (although ineffectively) in the hospital, and although you hear horror stories about breastfeeding, I really thought we had the hang of it. Ha! After we were home, he would arch, scream, try to cry (he STILL didn’t cry normally)…anything to avoid nursing. He would finally give in after hours of struggle out of pure exhaustion and near starvation I’m sure, and then he was too weak to suckle very long before falling asleep. He also developed terrible reflux, which made the whole situation that much worse. He was spitting up most of what he took in and probably in constant pain from the burning in his chest. I was raw, bleeding, and engorged. I even had mastitis at one point with fever and chills. As a pair, we were a mess.
We hired a lactation consultant who came to the house to teach me how to nurse my baby. I was crushed. If there was anything I was supposed to be able to do right after carrying this kid for an eternity, it was to nurse him! She worked with Collin and me for probably 3 hours- in the glider, on the bed; sitting up, laying down, football hold, sideways hold….nothing was working. She was also a Labor and Delivery Nurse and
she would be the second nurse to mention that he didn’t seem ‘quite right’, especially in regards to his muscle tone and his fist clenching. I had no choice but to do the best I could with nursing and buy a double electric breast pump, which I used to pump my milk for Collin for 10 months!
On top of all this, but not surprising, Collin had lost so much weight from ineffectively nursing, refluxing, and burning so many calories crying and fighting all the time, that at his 3 week visit we were still dealing with jaundice and he was deemed Failure To Thrive. My heart sank as I began supplementing my breast milk with formula. Slowly but surely the jaundice resolved and he gained weight little by little. Along with the start
of the formula though, came severe eczema, which we eventually identified as a dairy sensitivity. It took him almost 2 hours to finish a 6oz bottle because of the low tone in his mouth, which we were still blissfully unaware of.
Eventually we made our way to an ENT (ear, nose, and throat doctor) to find out why he had such noisy breathing. They scoped him, which consisted of threading a small camera up his nose and down into his throat to find the problem. Collin was only a couple months old and it was my first heartbreaking experience that I had to subject my precious baby to. The doctor diagnosed him with Tracheomalacia, which is a softening and weakness of the trachea, causing it to sort of flop with air flow, resulting in the stridor that we hear when he breathes. They predicted he would outgrow this by 2, but at almost 4 we still hear it. It is better than it was, but gets really bad anytime he is sick.
At around 3 months of age, things still didn’t seem right. Collin was still very floppy. He wasn’t bearing weight on his feet at all and you had to keep two hands on him at all times when you held him or he would fall backwards. He was also completely unaware of people and remained unengaged with everything. I expressed some concerns to my pediatrician at the time who sent us to a Neurologist. The doctor told me that he wanted to run genetic testing, do an EEG, and get an MRI. I told him I thought he was crazy and
there was no reason to do that. Collin was an adorable baby and there was nothing wrong with him. When I pushed him further on what he was thinking and why he wanted to run all those tests, he told me he thought Collin might have Cerebral Palsy because his legs were scissoring. I left in a huff thinking the man was insane.
Truth be told, in my gut, I knew he was right. There was something off here and things weren’t adding up. I knew it the minute Collin entered this world. I started searching for a new pediatrician who wasn’t so much of the ‘wait and see’ mindset. If there was an issue, I was going to need to put my denial and heartbreak aside and get aggressive.
As a precaution, I had already submitted all the paperwork for the Early Steps Program and had Collin evaluated at 3 ½ months old and approved for therapy. I think they gave him one half hour of Physical Therapy (PT) a week to start. Still hoping he was just delayed, I would start him in PT at 4 months old until he got caught up. Meanwhile we
started with a new pediatrician, who is still my rock today. He had several concerns and was able to be real with me about what he was thinking and why. He also took my concerns seriously and never brushed me off as just a mom who didn’t know anything. We became fast friends, thankfully, because I didn’t even realize how much I was going to need
him.
By 6 months, we had an appointment with a different Neurologist who was well known in the community. He too wanted an EEG, genetic testing, and an MRI. We had all of it done immediately. He spoke with me after the EEG, explaining that it showed some
abnormalities, but he wanted to wait until the rest of the test results came back before worrying too much about it. I took that as a good sign and was further convinced that Collin just had some physical delays. Next was the MRI. It was painful to see my
chubby little 6 month old baby in a huge hospital crib, head wrapped from the EEG, and having to hold him down while they put the mask on him to sedate him for the MRI. I cried as I left the room, to wait for what seemed like forever.
The call from the neurologist came a few days later saying that the MRI looked fine. Then I received a call from the geneticist when I was in Speech Therapy with Collin at the time, as we had decided to add ST and OT, as well as more PT by then. “Hi Mrs. Preston. The results of the genetic testing came back today.” Every word felt like it took him a year to spit out. “It shows a small deletion on the 15th Chromosome. I need to refer you to a geneticist for further testing. I’m very sorry.” My heart sank and I started to cry. I didn’t have any idea what that meant, but I remember the first thoughts that went through my head were ‘this is permanent’ and ‘I can’t fix this’. I felt numb and powerless and I walked out to tell his PT who I had become close friends with already, and I couldn’t feel myself walking, or talking, or thinking. I felt dizzy and I sat down. Then I had to tell everyone else I knew the devastating news, fielding 100 questions I didn’t have the answers to.
We were referred to a geneticist who ran another test to differentiate if the deletion was on the maternal or paternal portion of the 15th chromosome. That would determine if it was Prader Willi Syndrome (PWS) or Angelman Syndrome (AS). She was not the most sensitive person and she assured me that because Collin was chubby that it was PWS. He was 7 months old, of course he was chubby! She also advised me to not waste time or money on any off beat or alternative treatments or studies, but to just stick to the normal therapies if I wanted to and let Collin ‘do the best he can’. We never went back to her. I despised her so much that I wouldn’t even go back to get the results. We had my pediatrician get them. It took a month for them to come back and in that time I had joined the PWS association, read everything I could about PWS, and met a local mom with a young daughter who has PWS (who I am still friends with today).
We went to see my pediatrician and were there as the results were faxed in. It was October 13, 2008 and Collin had just turned 8 months old on the 11th. We had all prepared for a PWS diagnosis, but as he read it, he paused, looked up at me and said “Angelman Syndrome”. I felt like I walked into an exam that I didn’t study for. I didn’t know a thing about AS. He admitted that he didn’t either, except for the seizures. Over the coming months, we would all learn together. It would be a long, challenging,
painful road, glittered with hope and optimism along the way.
As a precaution, I had already submitted all the paperwork for the Early Steps Program and had Collin evaluated at 3 ½ months old and approved for therapy. I think they gave him one half hour of Physical Therapy (PT) a week to start. Still hoping he was just delayed, I would start him in PT at 4 months old until he got caught up. Meanwhile westarted with a new pediatrician, who is still my rock today. He had several concerns and was able to be real with me about what he was thinking and why. He also took my concerns seriously and never brushed me off as just a mom who didn’t know anything. We became fast friends, thankfully, because I didn’t even realize how much I was going to need
him.
By 6 months, we had an appointment with a different Neurologist who was well known in the community. He too wanted an EEG, genetic testing, and an MRI. We had all of it done immediately. He spoke with me after the EEG, explaining that it showed some
abnormalities, but he wanted to wait until the rest of the test results came back before worrying too much about it. I took that as a good sign and was further convinced that Collin just had some physical delays. Next was the MRI. It was painful to see my
chubby little 6 month old baby in a huge hospital crib, head wrapped from the EEG, and having to hold him down while they put the mask on him to sedate him for the MRI. I cried as I left the room, to wait for what seemed like forever.
The call from the neurologist came a few days later saying that the MRI looked fine. Then I received a call from the geneticist when I was in Speech Therapy with Collin at the time, as we had decided to add ST and OT, as well as more PT by then. “Hi Mrs. Preston. The results of the genetic testing came back today.” Every word felt like it took him a year to spit out. “It shows a small deletion on the 15th Chromosome. I need to refer you to a geneticist for further testing. I’m very sorry.” My heart sank and I started to cry. I didn’t have any idea what that meant, but I remember the first thoughts that went through my head were ‘this is permanent’ and ‘I can’t fix this’. I felt numb and powerless and I walked out to tell his PT who I had become close friends with already, and I couldn’t feel myself walking, or talking, or thinking. I felt dizzy and I sat down. Then I had to tell everyone else I knew the devastating news, fielding 100 questions I didn’t have the answers to.
We were referred to a geneticist who ran another test to differentiate if the deletion was on the maternal or paternal portion of the 15th chromosome. That would determine if it was Prader Willi Syndrome (PWS) or Angelman Syndrome (AS). She was not the most sensitive person and she assured me that because Collin was chubby that it was PWS. He was 7 months old, of course he was chubby! She also advised me to not waste time or money on any off beat or alternative treatments or studies, but to just stick to the normal therapies if I wanted to and let Collin ‘do the best he can’. We never went back to her. I despised her so much that I wouldn’t even go back to get the results. We had my pediatrician get them. It took a month for them to come back and in that time I had joined the PWS association, read everything I could about PWS, and met a local mom with a young daughter who has PWS (who I am still friends with today).
We went to see my pediatrician and were there as the results were faxed in. It was October 13, 2008 and Collin had just turned 8 months old on the 11th. We had all prepared for a PWS diagnosis, but as he read it, he paused, looked up at me and said “Angelman Syndrome”. I felt like I walked into an exam that I didn’t study for. I didn’t know a thing about AS. He admitted that he didn’t either, except for the seizures. Over the coming months, we would all learn together. It would be a long, challenging,painful road, glittered with hope and optimism along the way.
Thanks for sharing your story, one of the most difficult things about AS is people (both medical and non-medical) knowing little or nothing about AS. So it is great within the last 5/10 years that so many of us are able to share our experiences globally through blogs, websites, etc...
ReplyDeleteI have a 9 year old nephew with AS who was diagnosed just over 1 year old. He, like all the angels, is a smiley happy chap who spreads a presence of happiness to wherever he goes.
He experienced seizures up until he had his tonsils removed (a few years ago) - throat infections, high temperature, etc. seemed to trigger the seizures. Fingers crossed he hasn't had any since. Him and another little girl with AS had their tonsils out on the same day and the doctor was amazed at how big the tonsils were in comparison to other children!
Sending lots of love your way - I know the road with AS can be painful and heartbreaking and indeed tough but there is hope, and most of all bundles of happiness that your child will bring to you and many!
Love Julie, (NI).
juliethompson2@me.com