Well, it's official! Addy has been given a diagnosis of mild Arthrogryoposis.
The full medical term is arthrogryposis multiplex congenita which is a nonprogressive condition characterized by multiple joint contractures found throughout the body at birth. The major cause of arthrogryposis is decreased fetal movements or maternal disorders. During the early stages of development in the womb, the baby typically has normal joint development. As the pregnancy progresses the lack of fetal movement causes extra tissue to develop around the joints. The frequency of occurence is 1 in every 3000 live births. (Was very surprised to read that stat). There is a gene connection with arthrogryposis, however this area is unchartered territory at this point. Therefore, we may never have exact answers exactly why this happened or if we are at risk for possible pregnancies in the future.
Addy has a mild case of arthrogryposis, which we are very fortunate for. In her case life span should not be affected nor should her ability to be functional as she gets older. She will continue to receive OT and PT to increase the mobility in all her joints.
When you see Addy, you might ask yourself, "What exactly seems to be her issues, because she looks pretty normal at just a glance." Well, here are a few of the issues that have led doctors to this diagnosis. She has wrists that are extremely tight with very little downward flexion. She has the ulnar deviation of her fingers on both hands, with the left presenting more noticeably than the right. She also had one finger contracture at birth. The tightness continues throughout most of her upper body, with her shoulders and neck being affected. Her neck is so tight that she hardly has any mobility in turning to look left without turning her whole body. She can lift her arms up to eye level, but beyond that is painful. Her ankles are a little on the tight side as well. Immediately at birth, comments were made about her feet. After examination doctors say that her feet present as if she were just on the verge of club feet, with some of her toes having a different look to them.
Along with these symptoms she also has some small things that can be found in association with arthrgryposis. These include a bifid uvula, feeding issues, short neck and we are unsure yet about the possibility of a small stature.
So, with all that being said, it really doesn't change much with how we will work with her as far as therapy goes. I am now on a mission to find a doctor who specializes in or has a great interest in Arthrogryposis. I think it's important that someone extremely familiar with the condition follow her as she grows. She is going back to Early Intervention in January and with the diagnosis it is almost a sure bet that she will qualify. That also means that she too will qualify to begin school at age 3. Mom is happy about that. I would take that with or without a disability. Also means, that she will probably eventually receive a special education label of POHI. I am just blown away with what a coincidence this all seems to be, with her own mom being a POHI teacher. I guess God knew that he was sending her down to the right parents. We will continue to love her and give her the best life that we possibly can.
Saturday, December 15, 2007
Sunday, December 9, 2007
Friday, December 7, 2007
Tuesday, December 4, 2007
Medical Update
Hello all! Just some updates on medical news to pass along. Addy has been continuing with OT and PT twice a week. We have been seeing great improvements with the help of the therapies.
She just got over a pretty large illness of a double ear infection, pink eye in both eyes and bronchial spasms. The doctor had her on 4 meds including breathing treatments and a liquid steroid. Of course we all know what steroids do- they make you hungry ALL THE TIME! Needless to say, we couldn't keep her from being constantly hungry while on the steroid. This of course was cause for concern, because the pediatrician is still concerned with her rapid weight gain.
Yesterday we saw the ENT for a follow up visit. We are having a hard time keeping her healthy and free of congestion, so she has been on a steroid nose spray for the last several weeks. At this visit she had fluid built up in both ears, but not infected. She has already had 3 ear infections and she's just shy of 7 months. With the fluid build up, the doc decided to redo a hearing test. It was found that she has a significant hearing loss in both ears due to the fluid. Therefore, putting tubes in her ears will be the solution to fixing that. This will take place on December 18th. We were warned of this as a possibly from the start. Having a bifid uvula makes her much more susceptible to ear infections. We are hoping that this procedure will help keep her healthier.
Today we paid a visit to the plastic surgeon who has been following Addison for her hands and her bifid uvula. He would like her to have a speech evaluation at 12 months old to check for hypernasal speech. At that time they would consider whether surgery will be needed to fix the uvula. No further concerns with her hands at this time. We have some day time Benik splints on order through therapy and are anxious to get those.
We also had a weight check today and she is now 20 pounds!!! Oh my goodness!!! I'm sure the pediatrician will not be happy. I guess that's the downfall of being on the steroids.
We have our 6 month follow up appointment with the geneticist next week and are anxiously awaiting that. Addison saw her at a month old and passed two rounds of genetic testing with no syndrome that could be diagnosed at the time. Pretty sure that there is a syndrome of some sort going on, but with all the rare and unknown syndromes that are out there, we may never have exact answers.
That's all for now. We will continue to add updates so check back soon.
She just got over a pretty large illness of a double ear infection, pink eye in both eyes and bronchial spasms. The doctor had her on 4 meds including breathing treatments and a liquid steroid. Of course we all know what steroids do- they make you hungry ALL THE TIME! Needless to say, we couldn't keep her from being constantly hungry while on the steroid. This of course was cause for concern, because the pediatrician is still concerned with her rapid weight gain.
Yesterday we saw the ENT for a follow up visit. We are having a hard time keeping her healthy and free of congestion, so she has been on a steroid nose spray for the last several weeks. At this visit she had fluid built up in both ears, but not infected. She has already had 3 ear infections and she's just shy of 7 months. With the fluid build up, the doc decided to redo a hearing test. It was found that she has a significant hearing loss in both ears due to the fluid. Therefore, putting tubes in her ears will be the solution to fixing that. This will take place on December 18th. We were warned of this as a possibly from the start. Having a bifid uvula makes her much more susceptible to ear infections. We are hoping that this procedure will help keep her healthier.
Today we paid a visit to the plastic surgeon who has been following Addison for her hands and her bifid uvula. He would like her to have a speech evaluation at 12 months old to check for hypernasal speech. At that time they would consider whether surgery will be needed to fix the uvula. No further concerns with her hands at this time. We have some day time Benik splints on order through therapy and are anxious to get those.
We also had a weight check today and she is now 20 pounds!!! Oh my goodness!!! I'm sure the pediatrician will not be happy. I guess that's the downfall of being on the steroids.
We have our 6 month follow up appointment with the geneticist next week and are anxiously awaiting that. Addison saw her at a month old and passed two rounds of genetic testing with no syndrome that could be diagnosed at the time. Pretty sure that there is a syndrome of some sort going on, but with all the rare and unknown syndromes that are out there, we may never have exact answers.
That's all for now. We will continue to add updates so check back soon.
Monday, December 3, 2007
Sunday, December 2, 2007
Christmas Tree
Today Addy became a part of one of the many traditions we have in our family. We went Christmas tree shopping. Since Aaron and I have been together we have cut down a Christmas tree every year and having a baby was not about to stop our tradition. Having her with us made it even more special.
The weather was not the greatest. The night before we got about 2-3 inches of snow and the day consisted of a constant rain/drizzle on top of the snow. The weather didn't stop us though. We bundled up warm, recruited Uncle Graham to help and off we went. Addy just got a new sled and it worked out perfectly for the event. She had a blast and got lots of comments as well!
Happy holiday shopping and decorating to all!
The weather was not the greatest. The night before we got about 2-3 inches of snow and the day consisted of a constant rain/drizzle on top of the snow. The weather didn't stop us though. We bundled up warm, recruited Uncle Graham to help and off we went. Addy just got a new sled and it worked out perfectly for the event. She had a blast and got lots of comments as well!
Happy holiday shopping and decorating to all!
Tuesday, November 13, 2007
Great news!!
We have great news to share today. Addy has begun pushing up with her arms when laying on her stomach. That might not seem that great, however, it's a motion that mom worried about for a very long time. Due to some of the neuromuscular abnormalities that seem to be going on (none of which we have any name for or any explanation), Addy's upper body muscles have been very tight. She has had a very difficult time laying on her stomach for any length of time due to the tightness. She just couldn't quite figure out how to manuveur those arms to help her out. We have been continuing with therapy twice a week which is helping immensely. Before we know it, she'll be off and crawling. Happy day! Enjoy the video.
Wednesday, October 31, 2007
Friday, October 19, 2007
Just can't win
Well, we have been to the doctor several times over the last month and a half and now the word is that Addy is gaining too much weight. We just can't win. We went from receiving the "failure to thrive" diagnosis at many appointments to now being told that we are feeding her way too much. I personally think that what she eats is just fine. She had so much trouble feeding and coordinating the suck, swallow, and breath just to take the bottle and now she has seemed to figure it all out. She takes the bottle well and we have begun spoon feeding. So far, we haven't found any foods that she doesn't like. She currently weighs 17 pounds, 12 ounces. The doctor seems concerned because she has gained about a pound per week for the last month and a half. Oh well, seems she's making up for lost time. Our goal (says the doctor) is no weight gain for 2 months. Yeah, right. Try doing that with a growing and hungry baby. We'll keep you updated.Saturday, September 15, 2007
Saturday, September 8, 2007
Thursday, August 16, 2007
Wednesday, July 25, 2007
Gaining weight
From about the end of May until the end of July, the pediatrician was very concerned about Addison's weight. She was being seen on a two week basis and each time we would go in for a weight check, the gain was not significant enough. She continually received the "failure to thrive" diagnosis.
During this time she also saw many specialists. We began with Dr. Bawle in genetics. She felt as though their was no apparent syndrome that she could see with the naked eye. Addy underwent another round of genetic tests, which fortunately came back normal. The doctor did note that she felt that Addy had increased tone in her upper body and she should receive therapy. She is going to see her back in 6 months to watch for developmental milestones.
We then went on to see Dr. Arneja in plastic surgery. He determined that she does not have further signs of a cleft palate other than the bifid uvula (this is the lowest form of a cleft that a person can have). There continued to be concerns about her feeding issues. We tried some specialized bottles, which later failed because they were more for sucking issues and Addy seemed to have more difficulty with swallowing. He is going to follow her for her hands and agreed that she should receive therapy, OT and PT.
Next up was Dr. Chinarian in physical medicine and rehabilitation. Mom was anxious for this doctor as he is well known among my area of special education. Many of my students see him for their disabilities and I felt as though he may provide great insight into what seemed to be going on with Addison. He too felt as though there was no syndrome that he could pinpoint. He agreed that therapy would be in her best interest and did us a big favor by moving us up on the waiting list. From this appointment she had an x-ray taken of her neck which later revealed that everything inside is normal.
We then saw an ENT, Dr. Haupert who diagnosed her with laryngomalacia (an immature flopping of skin that covers the larynx). This could create some feeding issues, weight gain issues and abnormal breathing patterns. Most children outgrow this, so she will be watched closely.
The pediatician continued to be concerned about her weight gain so we began making her formula thicker for more calorie intake. This seemed to be the turning point we were looking for. Thickening her formula drastically changed her feeding. She was better able to control the formula and her swallow improved. The doc also ordered an echo and renal ultrasound just in case and both were normal. Yeah!!!
By the end of July, therapies had begun and the doctors started to be less concerned about her weight. At each appt. she continued to gain a decent amount of weight. She weighed 9 pounds, 8 ounces.
Tuesday, July 10, 2007
4th of July
Traditionally, every 4th of July we spend camping up north at the Kota cabin. Having Addy didn't stop us from going. She's learning early how to be an outdoor camping baby. Here are some pics hanging out with our friends Tara and Tyler. Addy also had her first pool experience.
Friday, June 29, 2007
Letter from Addy
Here's a copy of the letter that we sent out to friends and family shortly after Addy was born.
Dear Friends and Family,
I thought I would tell you all a little bit about how my entrance into this world began. As many of you heard we had a few hiccups along the way, so here’s the story:
I was born on May 7th at 4:41 pm. My mom said that my birth went very smoothly and daddy did a great job helping. I was already surrounded by meconium at birth so I was a little congested from the start. Soon after being born and getting examined by the doctors, they noticed a few subtle physical features on my body. My left hand fingers were slanted to the left as well as my left ear was curled and my neck was a bit underdeveloped on the left side. The immediate diagnosis was that I must have been curled pretty tight in the womb and the physical features were a result of that.
I was given a great apgar score and then I was handed off to my mommy and daddy to enjoy. Soon after that I was greeted by grandma’s and grandpa’s all around. This led to our first night in the hospital. I wasn’t eating a whole lot because I just didn’t seem to understand breast feeding quite yet, so mom was feeding me some formula with a Dixie cup, so I wouldn’t get too used to the bottle.
The next evening (day after birth) we were getting ready to go home. I was awaiting my 24 hour baby check and then we were going to be headed home. During my baby check, the doctors noticed that I had Jaundice. They wanted me to stay a second night so they could recheck my levels in the morning and possibly do light therapy if needed. During the night I gave mom and dad quite a scare. I seemed to be having trouble breathing when laid on my back, due to what seemed like congestion. I eventually went to the nursery to be watched and the doctors felt as though I needed an IV for feeding so we could bypass the congestion.
The next morning, the doctors came in to talk to mom and dad. They were very surprised to hear that the doctors were worried for several reasons. During feeding, my oxygen levels were dropping, I was very congested and I was showing signs of not keeping my food down. With all these symptoms, the doctors were now more worried about the physical features as well. They added a few more to the list such as the possibility of a shorter neck than normal, a difference in my tone, broad hands and feet, long fingers and a lot of spacing between my toes when I flexed. They mentioned the possibility that there could be some relation between everything that was going on. They wanted to play things safe and have me transferred to a Neonatal Intensive Care Unit for further testing.
So, on Wednesday, I was transported to the NICU at St. John’s main campus. I underwent lots of tests at first, none of which seem to show very much. The doctors found that I have acid reflux and put me on two medications for that. I also was undergoing genetic testing and they doctors were trying to figure out my feeding issues. When I was taking a bottle, I was having a difficult time coordinating suck, swallow and breathe all at the same time, which brought my oxygen levels down each time. The neonatologist at the NICU didn’t seem as concerned about the physical features. The said it was probably a combination of familial features as well as positioning in the womb.
I spent a total of 5 days in the NICU. I came home on Mother’s Day although that almost didn’t happen. Fortunately for me, I have a mom who teaches kids who have feeding issues in special education and my mom was able to prove to the doctors that she was confident in taking care of me and dealing with my feeding issues. I just needed some consistency as well as someone to help me regulate my feeding.
Since leaving the NICU, I have been seen by several more doctors. At the pediatrician I was found to be gaining weight well. It was also discovered that I have a bifid uvula which means split in the middle. This could be adding to some of my feeding issues. We have an appt. with a pediatric ear, nose and throat doctor in July as well as a plastic surgeon who works in the cranio-facial department at Children’s hospital. I have also been seen by an orthopedic doctor who has since referred me to a pediatric occupational therapist for possible hand splinting and range of motion exercises. Each doctor that I see still continued to comment about the physical features and seemed to have some concerns that there could be a possible syndrome. The original genetics test have since come back normal, however those were just a basic snapshot of my genes. I then was seen by the genetic specialist at Children’s hospital and further genetic testing is currently being done. No guarantee that the tests will show anything, but if they do we might be a step closer to figuring this all out. The genetics doctor was concerned about my hands and felt as though I have a little too much muscle tone throughout my body. I will also be getting physical therapy as well as the occupational therapy.
Due to all of the medical issues, I now qualify for Early Intervention services through our local Intermediate School District. These services will include a health care nurse who will follow me for developmental milestones. I also may will be evaluated to see if I qualify for OT and PT through Early Intervention. These services will begin in the fall.
All in all, mom and dad continue to worry about me, something they will do for the rest of their lives’. I continue to make progress with feeding and am an alert and attentive little girl. I know that my mom and dad will continue to take good care of me. If I haven’t already, I look forward to meeting all of you. Thank you for all your thoughts and prayers over the last several weeks.
Love,
Addison Christine
Dear Friends and Family,
I thought I would tell you all a little bit about how my entrance into this world began. As many of you heard we had a few hiccups along the way, so here’s the story:
I was born on May 7th at 4:41 pm. My mom said that my birth went very smoothly and daddy did a great job helping. I was already surrounded by meconium at birth so I was a little congested from the start. Soon after being born and getting examined by the doctors, they noticed a few subtle physical features on my body. My left hand fingers were slanted to the left as well as my left ear was curled and my neck was a bit underdeveloped on the left side. The immediate diagnosis was that I must have been curled pretty tight in the womb and the physical features were a result of that.
I was given a great apgar score and then I was handed off to my mommy and daddy to enjoy. Soon after that I was greeted by grandma’s and grandpa’s all around. This led to our first night in the hospital. I wasn’t eating a whole lot because I just didn’t seem to understand breast feeding quite yet, so mom was feeding me some formula with a Dixie cup, so I wouldn’t get too used to the bottle.
The next evening (day after birth) we were getting ready to go home. I was awaiting my 24 hour baby check and then we were going to be headed home. During my baby check, the doctors noticed that I had Jaundice. They wanted me to stay a second night so they could recheck my levels in the morning and possibly do light therapy if needed. During the night I gave mom and dad quite a scare. I seemed to be having trouble breathing when laid on my back, due to what seemed like congestion. I eventually went to the nursery to be watched and the doctors felt as though I needed an IV for feeding so we could bypass the congestion.
The next morning, the doctors came in to talk to mom and dad. They were very surprised to hear that the doctors were worried for several reasons. During feeding, my oxygen levels were dropping, I was very congested and I was showing signs of not keeping my food down. With all these symptoms, the doctors were now more worried about the physical features as well. They added a few more to the list such as the possibility of a shorter neck than normal, a difference in my tone, broad hands and feet, long fingers and a lot of spacing between my toes when I flexed. They mentioned the possibility that there could be some relation between everything that was going on. They wanted to play things safe and have me transferred to a Neonatal Intensive Care Unit for further testing.
So, on Wednesday, I was transported to the NICU at St. John’s main campus. I underwent lots of tests at first, none of which seem to show very much. The doctors found that I have acid reflux and put me on two medications for that. I also was undergoing genetic testing and they doctors were trying to figure out my feeding issues. When I was taking a bottle, I was having a difficult time coordinating suck, swallow and breathe all at the same time, which brought my oxygen levels down each time. The neonatologist at the NICU didn’t seem as concerned about the physical features. The said it was probably a combination of familial features as well as positioning in the womb.
I spent a total of 5 days in the NICU. I came home on Mother’s Day although that almost didn’t happen. Fortunately for me, I have a mom who teaches kids who have feeding issues in special education and my mom was able to prove to the doctors that she was confident in taking care of me and dealing with my feeding issues. I just needed some consistency as well as someone to help me regulate my feeding.
Since leaving the NICU, I have been seen by several more doctors. At the pediatrician I was found to be gaining weight well. It was also discovered that I have a bifid uvula which means split in the middle. This could be adding to some of my feeding issues. We have an appt. with a pediatric ear, nose and throat doctor in July as well as a plastic surgeon who works in the cranio-facial department at Children’s hospital. I have also been seen by an orthopedic doctor who has since referred me to a pediatric occupational therapist for possible hand splinting and range of motion exercises. Each doctor that I see still continued to comment about the physical features and seemed to have some concerns that there could be a possible syndrome. The original genetics test have since come back normal, however those were just a basic snapshot of my genes. I then was seen by the genetic specialist at Children’s hospital and further genetic testing is currently being done. No guarantee that the tests will show anything, but if they do we might be a step closer to figuring this all out. The genetics doctor was concerned about my hands and felt as though I have a little too much muscle tone throughout my body. I will also be getting physical therapy as well as the occupational therapy.
Due to all of the medical issues, I now qualify for Early Intervention services through our local Intermediate School District. These services will include a health care nurse who will follow me for developmental milestones. I also may will be evaluated to see if I qualify for OT and PT through Early Intervention. These services will begin in the fall.
All in all, mom and dad continue to worry about me, something they will do for the rest of their lives’. I continue to make progress with feeding and am an alert and attentive little girl. I know that my mom and dad will continue to take good care of me. If I haven’t already, I look forward to meeting all of you. Thank you for all your thoughts and prayers over the last several weeks.
Love,
Addison Christine
Thursday, June 28, 2007
Birth Day!
Welcome to the world Addison Christine.
On May 7th we received our most precious gift, Addison. She weighed 6 pounds, 15 ounces. Exactly as mom thought, she was a 6 pounder. Everyone else was guessing at least 8 pounds. I guess that proves that mothers do know best! She was 21 1/2 inches long.
Later that day she was greeted by grandmas and grandpas from both sides. Immediately the consensus was that she looked just like dad. Quite fine by me, cause I think dad's a pretty handsome man!
On May 7th we received our most precious gift, Addison. She weighed 6 pounds, 15 ounces. Exactly as mom thought, she was a 6 pounder. Everyone else was guessing at least 8 pounds. I guess that proves that mothers do know best! She was 21 1/2 inches long.
Later that day she was greeted by grandmas and grandpas from both sides. Immediately the consensus was that she looked just like dad. Quite fine by me, cause I think dad's a pretty handsome man!
Hello and welcome!
Hello Everyone,
Welcome to our new site where you will be able to keep updated on Addy and her everchanging appearance. We have come so far from birth day. Mom and dad can hardly believe the changes that are occurring in what seems like overnight. Please enjoy and feel free to check back often.
Welcome to our new site where you will be able to keep updated on Addy and her everchanging appearance. We have come so far from birth day. Mom and dad can hardly believe the changes that are occurring in what seems like overnight. Please enjoy and feel free to check back often.
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