Well, everything Ryan said in the initial post was very true...and I wanted to step in and give you an update! He mentioned that hopefully the feeding tube would be a thing of the past within a year if things went well, which seemed like a realistic and hopeful goal at that time.
Yet we are absolutely pleased to report that Wednesday will celebrate three weeks of Ryan eating and drinking on his own, with no tube feedings!! Thankfully during that time he's also become a more effective, slightly less messy eater! He's also not waking up at 4 a.m. asking to eat quite as often either, phew!!
We do continue to give him 4 ounces of water via his feeding tube at night to assure that he gets a little extra hydration...but we are hoping that we can stop that soon too. We do this while he is asleep and unaware of it so that there won't be the risk of additional emotional attachment to the tube feedings. The water going through the tube is also a good way to keep it clean and avoid infection. We do not plan to have to resume tube feedings but we will not remove the tube from his tummy until we are certain he's not going to regress. Additionally, if he were to get sick and need additional hydration we would have the ability to do that, and so we'd want to wait until flu/winter season is over anyway.
When it's ready to come out it will just become a tiny scar, and a distant memory of the medical technology that helped him survive and get to where he is today.
The decision to do this came about when Ryan began drinking effectively out of a straw. It was difficult to know when and how to begin the process, but evident that he was becoming somewhat emotionally attached to it as one might with a bottle or pacifier. Also the tube feeding was faster and easier for him and often times he would just point to where we hang is feeding bag, and ask for us to hang it so he wouldn't have to put the effort into eating. He is smart enough to understand this, and with each passing day we knew it'd be a harder habit to break.
My research had told me that "so many children who are capable of eating on their own, whose core issues have been addressed but who remain *unwilling* to eat, are tube-fed for years, which needlessly and often dramatically lowers quality of life."
This hit home with me and I knew that since he had become 100% capable of eating AND drinking, seems to feel and respond to feelings of thirst and hunger, and was eager to eat and be part of family mealtimes that it would be unfair and limiting to him to continue the feedings.
I had also read that over time if parent/adult expectation and pressure to eat independently build up too much that it can cause a child to resist autonomy, and that "since giving tube feeds can provide attention this can result in a secondary gain. We really wanted to avoid this situation.
We couldn't be more proud of him. We are quite thrilled about the 3 ounce weight gain he has had since last week!! After last week's weigh in he had lost an ounce, and the doctor mentioned the possibility of re-starting tube feedings if he were to lose any more weight (even one more ounce). This, quite simply, would be heartbreaking. We knew we'd have to stand firm and make sure parental instinct was fully in tact, because we had no plans of re-starting tube feedings...regardless of what that scale prounounced or the doctor had recommended!!!
As long as Ryan remains healthy, hydrated, eager to eat and drink, and maintains appropriate response to hunger and thirst...it would be unfair to let him turn back. Especially when he is now fully capable of moving towards the independence he surely desires!!
He continues to remain strong and walk well with a walker. I learned today that his physical therapist is starting to work with him using a quad cane (cane with 4 prongs on the bottom)...wow, I am eager to see him progress to that on a regular basis!
Well, thanks for listening and I know there'll be plenty of exciting news to follow!!!
Monday, December 14, 2009
Monday, July 13, 2009
The brief explanation...
I was born in October of 2006, and while I was inside my mom there were some concerns about how slowly I was growing. Those concerns were attributed to a complication with my mom's umbilical cord (Occasionally, one umbilical artery is absent. Single umbilical arteries are associated more commonly with fetal anomalies than normal cords.)
So anyway I was small and had to be monitored closely throughout the pregnancy to be sure I didn't stop growing. Thankfully I didn't have to be delivered early and was born at 39 weeks, via repeat c-section. I weighed 5 pounds 4 ounces and that wasn't much smaller than my sister had been. Therefore, nobody seemed too worried about my size once I was born. The doctors thought that since I was "disconnected" from the umbilical cord I would begin to thrive...but they were wrong.
By the time I was 4 1/2 months old or so it became obvious that my lack of growth was more of a problem than "just another small kid in the family" (my brother and sister are both small for their age, so we all just assumed I was following the family's growth curve). Yet I looked just like my brother and sister, and there were no indicators that suggested any specific problem at that time.
So I was diagnosed generically as "failure to thrive" because I wasn't growing like I should. My mom quit nursing because she thought that maybe her breast milk wasn't providing enough nutrition. It was a difficult transition because my tummy didn't handle many of the formulas well, and I had a very hard time sucking on a bottle like other babies did. (Looking back, my mommy says that I actually ate the best while nursing but she was unsuccessful at restarting her milk once she stopped nursing). At 6 months old I was hospitalized for the first time, and the hunt for the answers and reasons for my struggles was in full force.
After several hospitalizations, a feeding tube, home oxygen at nighttime (temporarily), doctors from many, many specialties, questions, tests, and second opinions...we learned that I have a small missing piece of the short (or petite) arm of my 4th chromosome. This is also called Wolf-Hirschhorn Syndrome, or 4p- (4 for fourth, p for petite, and - for deletion or missing piece). It took two rounds of genetic testing to discover this, because the missing piece is very small and wasn't detected with the initial chromosome analysis.
Some of the milder cases are only being identified more recently, with better testing. Even in 2007 we had to push hard to find a doctor that felt further genetic testing was warranted, and fight the insurance company to have it covered. Thankfully we had a therapist involved that knew "standard testing" wasn't a catch-all. Had she not armed us with this information we may still be searching for a diagnosis. After receiving my diagnosis, my parents were also tested. It was found to be something that happened randomly. This means that my parents are not carriers, and we have no family history.
My parents and I thought that having a diagnosis meant having answers and that we'd be able to easily move forward with a team of doctors/specialists for "this type of thing"...but again we were WRONG.
It has been a difficult road because most of the doctors that we have met along the way have never even heard of the syndrome, and we have found that much of the research and literature is outdated. This has made it somewhat difficult to move forward at times. Even if someone takes the time to read about and research the syndrome, it still may not tell them a lot about me specifically. My parents have become great advocates on my behalf and searched tirelessly for doctors that can best manage my care. They have also sought out support from parents of other children that have the same syndrome.
The doctors that have a specialized background in genetics have been very helpful. Yet overall as long as a doctor is open minded, and willing to learn from and listen to my mom and dad's input it gives them a better ability to help me. They do know me better than anyone afterall!!
We have had pretty good luck in narrowing down the most helpful team within the last year. I do have something rare, but my parents can provide a wealth of knowledge that should always be heard and considered in treatment and planning. So we have found, and respect, doctors that can move forward and treat my symptoms to the best of their ability, while not becoming overwhelmed by or "hung up" on the syndrome itself.
Through it all my mom and dad have found MANY things to be thankful for, besides the fact that I am a cute and sweet bundle of joy...most of the time! I just turned three, so you know how that goes!!
They are happy that they got to know me before the diagnosis. By the time they got the diagnosis I was almost one year old and when they were told I would never walk, never talk, and never get past the cognitive/mental level of a 6 year old they simply didn't believe it. The way I had already progressed by that point, despite being very weak and frail, made them believe in their hearts that prognosis wasn't true. I thank them for treating me as Ryan, their son, and not the boy with the syndrome...and for not accepting the limitations that were handed to them along with the diagnosis. They expect a lot out of me, and they should! I am capable of more than anyone can predict, and I am glad that they can seen that in me!!!!
I have heard them say many times that if I had been their first child they might have been too nervous to take me places and do things with me outside of our home (they tell me when my sister, the first child, was born that they made people wear surgical masks if they had even a hint of a cold. So I guess I can imagine that they might have been uncomfortable taking me out with a feeding tube, and all of the other things they have encountered since my arrival.)
So having no choice but to take me along with the family and get out there and do things with the other kids was a wonderful gift, because I have learned SO much from them and from the outside world I have been able to experience because of them! My brother and sister motivate me more than anyone in the world (sorry mom and dad, but it's the truth). I can hardly contain the excitement I feel when they include me in their activities, and want nothing more than to do the things they are doing. I have no doubt in my mind that their presence in my life will lead me to places I may never have gone on my own.
Another truth is that some days they are probably pretty sick of me and sick of my mom having to spend extra time with me. It's okay with me though. I know that we all have bad days, and frankly some days I am sick of all the appointments and therapies I have to do too...so who can blame them! Even on those days, the love in their eyes never disappears. I can always see it there, even on a bad day, and that's what reassures me that I landed in the right family. I am loved deeply and truly by all that surround me in my family. That too will carry me further than anyone might expect...you just wait and see!
My parents always speak of friends and neighbors that have helped them through the toughest of times, other friends that have children with special needs or disabilities...and ones that don't. They have also made new friends via the support group that they found on the Internet for parents and caregivers of children with 4p-/WHS. Without the Internet, easily accessible information, and access to other people not geographically close by, I don't think they would have known what to do. The parents of other kids with Wolf-Hirschhorn Syndrome have been so helpful and supportive people thus far, as they have first hand knowledge of things we have faced or may face in the future.
My mom is a social worker and has seen her share of things while working in that field, but she says that even though she has a Master's degree and years of experience in social work, strong support from family and friends, and access to resources she has still become overwhelmed at times. Overwhelmed with which resources are available and figuring out what I qualify for, managing time and appointments, devoting enough time to my brother and sister while taking care of my needs...and she now has a new perspective from which to view the difficulties and struggles that other people encounter. Especially for those people that face struggles and do not have support, resources, or education...or struggles that are more difficult than mine on any level. This, she has said, will make her a better person and definitely a better social worker. (Again, thanks to me!!!)
The list goes on and on, but they feel very blessed that I am the one that completed our family. My older brother and sister are thrilled to be learning sign language so they can help me learn it too. They seem to be caring and understanding of others with differences or special needs, even at their young ages. They are what motivate me and bring me joy (along with music of course!). So the three of us will venture through this life together, and continue to make mom and dad proud (and most likely frustrated too!!) as we all grow, change, and succeed.
What the future brings is unknown but right now (There is a large degree of variability between patients with this syndrome. Some are near "normal" in appearance and mental capacities, others are not. This is due to the amount of material that is missing in the p arm of the chromosome and the exact genes that are missing).
I am still very small, but after having my tonsils and adenoids out when I was almost two my life has changed for the better in SO many ways!!! I grew over three pounds, I sleep wonderfully, all of my food intolerances disappeared, I became mobile, progressed with eating foods orally, am no longer chronically congested, and SO much more!!!
I am working tirelessly in Physical therapy, Occupational therapy, Speech therapy, Hippotherapy (therapy on a horse), music therapy and the preschool at the local Board of Mental Retardation and Developmental disabilities (MRDD). Mom recently met with the public school district to discuss my IEP (individualized education plan). For now I will stay in the school where I am currently, but we have a wonderful public school system that has a great special education reputation. I will transition there later, as I get closer to kindergarten. By that time I expect to be walking much better, and have better communication skills.
A few months ago I began to walk with a walker, and have made so much progress that my mom even takes the walker out and about now. In fact, today I walked through the local grocery store and trick or treated!! Boy was that fun! I still cannot walk very far, but I am getting better everyday. I know about 15 American sign language signs, I can say 4 words and I scoot around on my bottom faster than anyone else I have ever met. The other kids think it's silly sometimes, but when they get down and try it they can never keep up with me!
I LOVE music, water, going on rides in the wagon, swinging, dancing, playing with other kids, and experiencing the world around me as much as possible. I still see a lot of doctors, but thankfully I am doing so well that I only have to see most of them once a year to check on things....especially to make sure my kidneys are still growing and functioning properly, that I am not having any abnormal neurological activity, and to monitor the size of the hole in my heart as I get older. I still have a feeding tube, but have been continuing to progress with eating things orally. I have heard my parents say that if I could just drink as well as I eat that I could get rid of that tube! So we are working on it, and perhaps a year from now it will be something of the past for me.
I am very social, interactive, alert and observant. Lately I have discovered the art of throwing a tantrum, but being a kid wouldn't be the same without that would it?! I am sure I will grow out of it...or at least that's what my parents are hoping! Other than that I am a pretty happy guy.
Well, that's the short of it...my mom will keep you posted on my progress from here on out!!
So anyway I was small and had to be monitored closely throughout the pregnancy to be sure I didn't stop growing. Thankfully I didn't have to be delivered early and was born at 39 weeks, via repeat c-section. I weighed 5 pounds 4 ounces and that wasn't much smaller than my sister had been. Therefore, nobody seemed too worried about my size once I was born. The doctors thought that since I was "disconnected" from the umbilical cord I would begin to thrive...but they were wrong.
By the time I was 4 1/2 months old or so it became obvious that my lack of growth was more of a problem than "just another small kid in the family" (my brother and sister are both small for their age, so we all just assumed I was following the family's growth curve). Yet I looked just like my brother and sister, and there were no indicators that suggested any specific problem at that time.
So I was diagnosed generically as "failure to thrive" because I wasn't growing like I should. My mom quit nursing because she thought that maybe her breast milk wasn't providing enough nutrition. It was a difficult transition because my tummy didn't handle many of the formulas well, and I had a very hard time sucking on a bottle like other babies did. (Looking back, my mommy says that I actually ate the best while nursing but she was unsuccessful at restarting her milk once she stopped nursing). At 6 months old I was hospitalized for the first time, and the hunt for the answers and reasons for my struggles was in full force.
After several hospitalizations, a feeding tube, home oxygen at nighttime (temporarily), doctors from many, many specialties, questions, tests, and second opinions...we learned that I have a small missing piece of the short (or petite) arm of my 4th chromosome. This is also called Wolf-Hirschhorn Syndrome, or 4p- (4 for fourth, p for petite, and - for deletion or missing piece). It took two rounds of genetic testing to discover this, because the missing piece is very small and wasn't detected with the initial chromosome analysis.
Some of the milder cases are only being identified more recently, with better testing. Even in 2007 we had to push hard to find a doctor that felt further genetic testing was warranted, and fight the insurance company to have it covered. Thankfully we had a therapist involved that knew "standard testing" wasn't a catch-all. Had she not armed us with this information we may still be searching for a diagnosis. After receiving my diagnosis, my parents were also tested. It was found to be something that happened randomly. This means that my parents are not carriers, and we have no family history.
My parents and I thought that having a diagnosis meant having answers and that we'd be able to easily move forward with a team of doctors/specialists for "this type of thing"...but again we were WRONG.
It has been a difficult road because most of the doctors that we have met along the way have never even heard of the syndrome, and we have found that much of the research and literature is outdated. This has made it somewhat difficult to move forward at times. Even if someone takes the time to read about and research the syndrome, it still may not tell them a lot about me specifically. My parents have become great advocates on my behalf and searched tirelessly for doctors that can best manage my care. They have also sought out support from parents of other children that have the same syndrome.
The doctors that have a specialized background in genetics have been very helpful. Yet overall as long as a doctor is open minded, and willing to learn from and listen to my mom and dad's input it gives them a better ability to help me. They do know me better than anyone afterall!!
We have had pretty good luck in narrowing down the most helpful team within the last year. I do have something rare, but my parents can provide a wealth of knowledge that should always be heard and considered in treatment and planning. So we have found, and respect, doctors that can move forward and treat my symptoms to the best of their ability, while not becoming overwhelmed by or "hung up" on the syndrome itself.
Through it all my mom and dad have found MANY things to be thankful for, besides the fact that I am a cute and sweet bundle of joy...most of the time! I just turned three, so you know how that goes!!
They are happy that they got to know me before the diagnosis. By the time they got the diagnosis I was almost one year old and when they were told I would never walk, never talk, and never get past the cognitive/mental level of a 6 year old they simply didn't believe it. The way I had already progressed by that point, despite being very weak and frail, made them believe in their hearts that prognosis wasn't true. I thank them for treating me as Ryan, their son, and not the boy with the syndrome...and for not accepting the limitations that were handed to them along with the diagnosis. They expect a lot out of me, and they should! I am capable of more than anyone can predict, and I am glad that they can seen that in me!!!!
I have heard them say many times that if I had been their first child they might have been too nervous to take me places and do things with me outside of our home (they tell me when my sister, the first child, was born that they made people wear surgical masks if they had even a hint of a cold. So I guess I can imagine that they might have been uncomfortable taking me out with a feeding tube, and all of the other things they have encountered since my arrival.)
So having no choice but to take me along with the family and get out there and do things with the other kids was a wonderful gift, because I have learned SO much from them and from the outside world I have been able to experience because of them! My brother and sister motivate me more than anyone in the world (sorry mom and dad, but it's the truth). I can hardly contain the excitement I feel when they include me in their activities, and want nothing more than to do the things they are doing. I have no doubt in my mind that their presence in my life will lead me to places I may never have gone on my own.
Another truth is that some days they are probably pretty sick of me and sick of my mom having to spend extra time with me. It's okay with me though. I know that we all have bad days, and frankly some days I am sick of all the appointments and therapies I have to do too...so who can blame them! Even on those days, the love in their eyes never disappears. I can always see it there, even on a bad day, and that's what reassures me that I landed in the right family. I am loved deeply and truly by all that surround me in my family. That too will carry me further than anyone might expect...you just wait and see!
My parents always speak of friends and neighbors that have helped them through the toughest of times, other friends that have children with special needs or disabilities...and ones that don't. They have also made new friends via the support group that they found on the Internet for parents and caregivers of children with 4p-/WHS. Without the Internet, easily accessible information, and access to other people not geographically close by, I don't think they would have known what to do. The parents of other kids with Wolf-Hirschhorn Syndrome have been so helpful and supportive people thus far, as they have first hand knowledge of things we have faced or may face in the future.
My mom is a social worker and has seen her share of things while working in that field, but she says that even though she has a Master's degree and years of experience in social work, strong support from family and friends, and access to resources she has still become overwhelmed at times. Overwhelmed with which resources are available and figuring out what I qualify for, managing time and appointments, devoting enough time to my brother and sister while taking care of my needs...and she now has a new perspective from which to view the difficulties and struggles that other people encounter. Especially for those people that face struggles and do not have support, resources, or education...or struggles that are more difficult than mine on any level. This, she has said, will make her a better person and definitely a better social worker. (Again, thanks to me!!!)
The list goes on and on, but they feel very blessed that I am the one that completed our family. My older brother and sister are thrilled to be learning sign language so they can help me learn it too. They seem to be caring and understanding of others with differences or special needs, even at their young ages. They are what motivate me and bring me joy (along with music of course!). So the three of us will venture through this life together, and continue to make mom and dad proud (and most likely frustrated too!!) as we all grow, change, and succeed.
What the future brings is unknown but right now (There is a large degree of variability between patients with this syndrome. Some are near "normal" in appearance and mental capacities, others are not. This is due to the amount of material that is missing in the p arm of the chromosome and the exact genes that are missing).
I am still very small, but after having my tonsils and adenoids out when I was almost two my life has changed for the better in SO many ways!!! I grew over three pounds, I sleep wonderfully, all of my food intolerances disappeared, I became mobile, progressed with eating foods orally, am no longer chronically congested, and SO much more!!!
I am working tirelessly in Physical therapy, Occupational therapy, Speech therapy, Hippotherapy (therapy on a horse), music therapy and the preschool at the local Board of Mental Retardation and Developmental disabilities (MRDD). Mom recently met with the public school district to discuss my IEP (individualized education plan). For now I will stay in the school where I am currently, but we have a wonderful public school system that has a great special education reputation. I will transition there later, as I get closer to kindergarten. By that time I expect to be walking much better, and have better communication skills.
A few months ago I began to walk with a walker, and have made so much progress that my mom even takes the walker out and about now. In fact, today I walked through the local grocery store and trick or treated!! Boy was that fun! I still cannot walk very far, but I am getting better everyday. I know about 15 American sign language signs, I can say 4 words and I scoot around on my bottom faster than anyone else I have ever met. The other kids think it's silly sometimes, but when they get down and try it they can never keep up with me!
I LOVE music, water, going on rides in the wagon, swinging, dancing, playing with other kids, and experiencing the world around me as much as possible. I still see a lot of doctors, but thankfully I am doing so well that I only have to see most of them once a year to check on things....especially to make sure my kidneys are still growing and functioning properly, that I am not having any abnormal neurological activity, and to monitor the size of the hole in my heart as I get older. I still have a feeding tube, but have been continuing to progress with eating things orally. I have heard my parents say that if I could just drink as well as I eat that I could get rid of that tube! So we are working on it, and perhaps a year from now it will be something of the past for me.
I am very social, interactive, alert and observant. Lately I have discovered the art of throwing a tantrum, but being a kid wouldn't be the same without that would it?! I am sure I will grow out of it...or at least that's what my parents are hoping! Other than that I am a pretty happy guy.
Well, that's the short of it...my mom will keep you posted on my progress from here on out!!
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