On Friday Ashton had his routine 3 month check with Endocrine and Genetics at the Mayo Clinic in Rochester. This was his 'other' of our 'every other' routine. He did not need labs or xrays for this visit, just a quick height/weight check to track his growth. Ashton's Endocrinologist (Dr. Kumar) is very pleased with his bodies response to the biochemically engineered growth hormone. In the last 3 months Ashton has gained two pounds and four centimeters!!! This is a HUGE deal for a kid who hasn't grown in almost 2 years!! His growth has come with a fun bonus- New Clothes! My little guy who had been in size 12/18 months clothes is now (at almost 4 years old) in a slim 2T! Woo Hoo- I have to admit, adding some different clothes to his wardrobe has been nice change of scenery! lol! His progress in the last 6 months since starting growth hormone almost puts him on the charts for growth!... it would be in the 1st percentile for kids his age, but we're almost there!! We will not change his daily injection dosage right now, as it appears his body is 'happy' at this dosage.
We will return in 3 months for the full 'every other' appointment. A full set of labs and bone age hand/wrist xray will be done to precisely document his growth and hormone levels. Every 6 months Ashton's bone age is checked to be sure that his bones are growing too fast and fusing prematurely. His bone age and actual age are then compared and then the results can then be added to our preventative care plan. The lab work will tell us to exactly what hormones his body is producing and what medication changes we need to make to continue thriving. During Ashton's appointment I also discussed transfer of Owen's endocrine needs to Dr. Kumar at Mayo. We are much happier with the level of hormone monitoring and response that we get at the Mayo clinic and feel like Owen's needs will be handled with greater regard. It's unfortunate that the change will add an extra 1 1/2 hours of driving but, we feel Owen endocrine care in St. Paul isn't handled with the level of priority we expect. We will look forward to getting both of our bionic boys appointments knocked out in one visit as well as pooling the knowledge and data to possibly help put more together more pieces of our puzzle.
Our second appointment with Dr. Ellison in Genetics was primarily for documentation of developmental milestones and to review the current genetic testing. Ashton was very happy that, as in past appointments again, Dr. Ellison had medical students joining him. Ashton chatted and entertained them during most of our visit. During our visit the results of the PROP1 genetic testing were not yet released from the lab in Atlanta. As I wrote in a previous blog we are now looking at pieces of genetic material called 'transcription factors'. These pieces of material are building blocks of genes and have the ability to turn 'on' and 'off' certain parts of a gene. We suspect that one of these transcription factors has 'turned off' a part of a gene and that in turn is causing the symptoms of the undiagnosed condition. Yes, we are talking astronomically rare occurrence- that's where we are. We have exhausted all 'typical' and well documented syndromes and disease possibilities. We discussed other genetic testing opportunities and pinpointed 5 more related tests that could shed some lights on our boys specific symptoms.... we would have to wait until the current results were in to decide if we should move forward.
Today Dr. Ellison called me directly and informed me that the PROP1 test came back normal. I have to admit, there is a certain amount of defeat and heartache that comes with every 'normal' genetic result. Isn't it every parents dream for their baby to be normal???... now it seems like the answer to our prayers is an 'abnormal' result. We struggle to understand and manage the symptoms of an undiagnosed condition. There are so many pieces to our puzzle, yet all of the pieces are still scattered on the table and don't make sense.
We understand that a diagnosis does not mean an cure for our boys- but it might give us some data, documentation, or even a real person our boys can relate to. Somebody to relate to... that's one of our biggest hopes in our genetic journey. We are able to manage the pituitary hormone levels as well as follow the boys social and emotional development (which is normal :), it's the muscle tone and weakness part of their condition that is the most difficult. If we could only find one more person in the world to relate and share experience with. To know or understand why or what we can do about it.... to know what therapies are best, what have others experienced and how have others fared long term. It's emotionally and physically exhausting for us and the boys. For Ashton, his brain is stuck in a body that won't keep up wtih his mental abilities. His gross motor struggles and inability to walk independently is frustrating for him and is frequently expressed in his actions. Owen is facing the same struggles we had with Ashton at this age. At 10 months he isn't able to sit independently, he isn't weight bearing on his legs and lacks the tone to pull up to stand. I can't even describe in words how it is to see your baby so strong at birth and slowly decrease in muscle tone and fight everyday to rebuild and gain skills that should develop with little effort. It wasn't until we had Kiera that I learned that most babies just 'do' things.. they learn how to scoot, crawl, sit up, pull up and grasp objects for the most part all on their own. It's tough to see the path that we have traveled with Ashton repeating itself in Owen.... I'm not saying they are a cookie cutter of each other, but they're defiantly cookies from the same batch :)
Most days I play the role of physical therapist and Mom. These roles don't always melt together well. I have to push each boy enough to problem solve and do things on their own while encouraging them not to get frustrated, to trust me, know I'll be there, to have fun and know just how much I love them. Sometimes it seems like when Daddy is home or other family and friends are over the kids are so happy- and I'm glad they are! I always tell them, "I'm Mom. I'm no fun, I change diapers, make them food and make them do all the not so fun things like walk and use the potty." I would be lying if I said it didn't get me down sometimes- wishing that playtime could just be playtime, not always a 'how can we incorporate motor skill building or life skills' time. There is also an incredible amount of guilt that goes with the time spent getting regular daily things done and thinking that I should be spending more one on one time with each boy to help them, but then again... somebody has got to do the dishes. I wish there was more I could do and I drive myself crazy trying to customize their surroundings and activities to make them the most conducive to building their gross motor skills, it's hard to know if my efforts are in vain. I know that God has a path for everyone and I don't know if we have the ability to skew or speed up the plan, but darn it- I'm going to keep trying!
Dear God, I know your plan for Owen and Ashton is special- I can see that in their smiles and happy personalities. I pray that you continue to guide us and help us to do what's right for them. I also pray that you continue to let Kiera shine and always keep her heart as beautiful as it is today. I also pray that he keep Shelby and I strong and know that we are pulling on the same end of the rope. Some days our arms get kind of tired, but we won't give up. We are also so incredibly thankful for the family and friends that continue to support and send prayers our way. We can't do this alone, we know that. ~Amen.
Hugs & Love, Sarah & Shelby Fox
Monday, November 15, 2010
Monday, November 1, 2010
The letter of the day is D!
We are now one week post palate closure operation and we are seeing some really wonderful changes in Owen. His palate closure is still healing and still has many visible stitches (which will dissolve in time), but it looks really great! The transformation of the inside of his mouth is absolutely unfathomable. I am awestruck every time he opens his mouth. Thank the God for such talented surgery staff. I will be traveling to St. Paul two days this week to his post operation appointments with his surgeon and ENT (ears, nose and throat doctor) and to Stillwater for an eye appointment. With things going so great and looking so good, I think the appointments should go without much complication.
Since his closure we are starting to see him experiment with his new mouth and nose. This morning as I was lying in bed listening to Owen jabber on the baby monitor before I went to his room to get him there was a very clear 'Da Da Da Da' coming from the monitor! I woke Shelby up and we both just sat quiet and enjoyed the first moment we have heard Owen say Da Da! ...before surgery there was nothing for his little tongue to touch to make the 'D' sound, now there is. He has also been vigorously blowing air in and out of his nose the last couple of days. We guess that he is learning how his nose works now that it isn't open to his mouth.
Pureed food and formula is going very well. He is taking about 75% of his formula by mouth and the remainder we are feeding through his g-tube until he is able to work back to his regular intake amounts. To tell you the truth- I am shocked at the speed of his progress! He is working so hard and is really trying to get the knack of taking a bottle with his new mouth. He still gets a significant amount of air and gets frustrated at times, but we are seeing improvements at every oral bottle feeding. He has taken to cereals and purees pretty well! He's taking about half as much at a sitting as he did prior to surgery, but we'll get there. I know and can tell by his behavior that he misses the 'fullness' that food gives him. It's already become routine to use a regular baby spoon and feed him just like a regular baby. It feels like that's how we have always done it. -how easily we can forget the challenges we faced just one short week ago. I'll be glad when we can move away from his tube 100% again. It's a curse and a blessing at the same time. One of the nurses in the hospital commented that all kids should come with a button. :) It is easier to give him his medications and easier to get him fed without struggle, especially in a post oral surgery situation, but we worked so hard to get away from it the first time... we're ready to get back to that place.
One of the biggest challenges we have faced is his "No-No's". They are little arm-splints that he wears when he sleeps to keep him from touching his mouth. They essentially keep him from being able to bend his elbow joint. Since he is a blanket chewer, we have to make sure he wears them when we can't see him. It's tough and he whines at night. They really restrict his ability to move around in his crib or lay on his side like he likes to. I'm praying that at his follow-up appointment tomorrow they will tell us he doesn't have to wear them anymore.
We are continuing to see the lack of gross motor activity with Owen. He is rolling like a madman and sits up well with support, but is quite floppy when un-supported. He, like Ashton at 10 months, refuses to weight bear on his legs and is lacking in muscle tone. Even with the earlier intervention of occupational/physical therapy and medication there is still something genetic that we are unable to put our finger on to figure out how to fix. It's a tough pill to swallow knowing that we are likely to see the same gross motor path with Owen as with Ashton. We assume it is a symptom of the shared unknown/undiagnosed condition. There is comfort in seeing the improvements that Ashton has made in the recent months and how close we are to Ashton's gross motor independence. While we know balance will be an issue for some time to come, the Independence of unassisted walking is going to open a whole new world for him.
We will visit the Mayo Clinic in Rochester with Ashton on the 12th for his regular endocrine visit and we will see our geneticist to get and update on genetic testing. We aren't putting too much stock and emotion into a genetic breakthrough at this point. We have exhausted all standard and most non-standard genetic testing.... we have been told our kids are truly 1 in a million at this point... and possibly true 'individuals'. :)
Even with as much attention that her brothers get, Kiera continues to wow us! She has recently mastered the 'art' of drawing smiley faces!! It's her favorite things to draw. She loves to color and create and is getting quite good at it. I keep doodling new shapes or letters/numbers on the sides of her paper to challenge her a little. She is always willing to take the challenge head on and try herself. She can sing her ABC's and knows most of her letters by sight as well as count to 20. She articulates and verbalizes her needs so clearly and accurately. She's like a sponge! Everything Ashton learns she learns too... like Nikki Fox says, "What are they going to teach her in school, she's only 2?!" We know it's a hard spot for her- sandwiched in between her brothers with their challenges, but doesn't fade into the background she shines just as bright along side of them. Some days I think she was born a big girl. Her level of caring and understanding is just amazing and beyond her years, but it's the heart of the little girl that loves her brothers unconditionally and doesn't see what makes them diffrent, but she sees what makes them just like her- truly beautiful.
Hugs, Love & Prayers Always,
Sarah & Shelby Fox
Since his closure we are starting to see him experiment with his new mouth and nose. This morning as I was lying in bed listening to Owen jabber on the baby monitor before I went to his room to get him there was a very clear 'Da Da Da Da' coming from the monitor! I woke Shelby up and we both just sat quiet and enjoyed the first moment we have heard Owen say Da Da! ...before surgery there was nothing for his little tongue to touch to make the 'D' sound, now there is. He has also been vigorously blowing air in and out of his nose the last couple of days. We guess that he is learning how his nose works now that it isn't open to his mouth.
Pureed food and formula is going very well. He is taking about 75% of his formula by mouth and the remainder we are feeding through his g-tube until he is able to work back to his regular intake amounts. To tell you the truth- I am shocked at the speed of his progress! He is working so hard and is really trying to get the knack of taking a bottle with his new mouth. He still gets a significant amount of air and gets frustrated at times, but we are seeing improvements at every oral bottle feeding. He has taken to cereals and purees pretty well! He's taking about half as much at a sitting as he did prior to surgery, but we'll get there. I know and can tell by his behavior that he misses the 'fullness' that food gives him. It's already become routine to use a regular baby spoon and feed him just like a regular baby. It feels like that's how we have always done it. -how easily we can forget the challenges we faced just one short week ago. I'll be glad when we can move away from his tube 100% again. It's a curse and a blessing at the same time. One of the nurses in the hospital commented that all kids should come with a button. :) It is easier to give him his medications and easier to get him fed without struggle, especially in a post oral surgery situation, but we worked so hard to get away from it the first time... we're ready to get back to that place.
One of the biggest challenges we have faced is his "No-No's". They are little arm-splints that he wears when he sleeps to keep him from touching his mouth. They essentially keep him from being able to bend his elbow joint. Since he is a blanket chewer, we have to make sure he wears them when we can't see him. It's tough and he whines at night. They really restrict his ability to move around in his crib or lay on his side like he likes to. I'm praying that at his follow-up appointment tomorrow they will tell us he doesn't have to wear them anymore.
We are continuing to see the lack of gross motor activity with Owen. He is rolling like a madman and sits up well with support, but is quite floppy when un-supported. He, like Ashton at 10 months, refuses to weight bear on his legs and is lacking in muscle tone. Even with the earlier intervention of occupational/physical therapy and medication there is still something genetic that we are unable to put our finger on to figure out how to fix. It's a tough pill to swallow knowing that we are likely to see the same gross motor path with Owen as with Ashton. We assume it is a symptom of the shared unknown/undiagnosed condition. There is comfort in seeing the improvements that Ashton has made in the recent months and how close we are to Ashton's gross motor independence. While we know balance will be an issue for some time to come, the Independence of unassisted walking is going to open a whole new world for him.
We will visit the Mayo Clinic in Rochester with Ashton on the 12th for his regular endocrine visit and we will see our geneticist to get and update on genetic testing. We aren't putting too much stock and emotion into a genetic breakthrough at this point. We have exhausted all standard and most non-standard genetic testing.... we have been told our kids are truly 1 in a million at this point... and possibly true 'individuals'. :)
Even with as much attention that her brothers get, Kiera continues to wow us! She has recently mastered the 'art' of drawing smiley faces!! It's her favorite things to draw. She loves to color and create and is getting quite good at it. I keep doodling new shapes or letters/numbers on the sides of her paper to challenge her a little. She is always willing to take the challenge head on and try herself. She can sing her ABC's and knows most of her letters by sight as well as count to 20. She articulates and verbalizes her needs so clearly and accurately. She's like a sponge! Everything Ashton learns she learns too... like Nikki Fox says, "What are they going to teach her in school, she's only 2?!" We know it's a hard spot for her- sandwiched in between her brothers with their challenges, but doesn't fade into the background she shines just as bright along side of them. Some days I think she was born a big girl. Her level of caring and understanding is just amazing and beyond her years, but it's the heart of the little girl that loves her brothers unconditionally and doesn't see what makes them diffrent, but she sees what makes them just like her- truly beautiful.
Hugs, Love & Prayers Always,
Sarah & Shelby Fox
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