Great appointment today...went through the checklist of specialists with the geneticist, who was extremely nice and thorough. She basically went down a list, which we should have had the first time around, with the not so thorough geneticist. Our goal, to be sure that we were up-to-date and in contact with all of the necessary specialists.
Ear, Nose and Throat...check
Orthopedics...check
Neurosugeon...check
Otolaryngologist...check
Opthamalogist...check
Craniofacial team...check
Geneticist...now a check
Cardiologist...they are looking into a follow up, but basically check.
So, looks like we're good to go for now. It was a good appointment, for once, someone made me feel like we have had it under control after all. Nothing missing. Yah! Chloe did really well and we headed to Petco after it was all over seeking a new beta, who is happily floating in his new home.
Colin also picked 10 feeder fish for Philbert, our turtle, and spent an hour watching him eat them one-by-one. So much fun...he was actually squealing like he used to when he was little. Ahhh...the simple things in life.
This weekend was nice. Nothing elaborate. Jeremy made dinner Saturday and we watched a family movie and a non-G rated movie after the kids went to bed. It was nice to have some low-key, calm, uninterrupted family time. We are on to week 5 without Daddy. Chloe still isn't adjusting. As far as she is concerned, he is here for one reason and one reason only...to hold her. She caught him off gaurd on Saturday morning with her first deliberate little kiss. He didn't understand what she was trying to do at first and tried to move away. She made it very clear that he was getting a kiss...baby spit and all...by protesting with a growl and moving his face back to hers. So cute!
Monday, October 09, 2006
Saturday, October 07, 2006
Translation
Colin seems much better today. Couldn't sleep last night, so I actually ended up looking up much of the medical jargon. I should have just done it right away. I always end up thinking about it until I get the definitions. So, here's the translation. It states:
His left orbit [eye socket] is elevated somewhat greater than the right. His left cheek is somewhat hypoplastic [pertaining to the underdevelopment of tissue]. His left ear bas been reconstructed with otogenous [originating from the ear] cartilage. [which is untrue...the cartilage is from his rib.] His mandible shows a 5 degrees upward cant with minimal change to the maxilla. His palate shows some hemiparesis [paralysis affecting only one side] on the left side. His cranial nerve exam was difficult because of inability to cooperate. (Of course, he was playing shy. We all know better. :)) Intraoral examination reveals the presence of mild left hemipalatal paresis [same, paralysis on one side] with his palate elevating up and to the right. Perceptual velopharyngeal [pertaining to the soft palate and pharynx...pertains to speech] assessment today reveals symptoms of bilateral inconsistnet visible nasal emission and mild hypernasality [speech disorder occurring when the plate and pharnyx tissues do not close properly]. He obtained a weighted speech score of 2 today indicative of a borderline competent velopharyngeal mechanism.
The plan: we will begin monitoring the growth and development of Colin's jaws over time. He may be a candidate for a soft tissue balancing procedure in the future, as well as jaw surgery to level and align his dental planes.
The only speech articulation error noted during speech production today is interdentalization of sibilants (Christi's note: slurring of s's. Correct me if I'm wrong, but I'm pretty sure that a lot of younger kids have this and outgrow it.)
So there you have it. Nothing new really, except the shifting jaw. And the speech junk, which I am not concerned at all about. :) Obviously, Colin is having no difficulty communicating. Ha!
Jeremy is sleeping soundly in our own bed. Yah! Colin is concerned that he needs to be checked on consistently...I have assured him that Daddy has this sleeping thing down pat and can handle it on his own. If he's lucky he'll get 4 hours. Poor guy! I haven't even let Chloe see him yet. Once she realizes his home, she won't let him leave her side. At all...she misses him. Daddy's girl without a doubt.
I'll update after Monday's appointment, but I am off to spend the weekend with my WHOLE family!
His left orbit [eye socket] is elevated somewhat greater than the right. His left cheek is somewhat hypoplastic [pertaining to the underdevelopment of tissue]. His left ear bas been reconstructed with otogenous [originating from the ear] cartilage. [which is untrue...the cartilage is from his rib.] His mandible shows a 5 degrees upward cant with minimal change to the maxilla. His palate shows some hemiparesis [paralysis affecting only one side] on the left side. His cranial nerve exam was difficult because of inability to cooperate. (Of course, he was playing shy. We all know better. :)) Intraoral examination reveals the presence of mild left hemipalatal paresis [same, paralysis on one side] with his palate elevating up and to the right. Perceptual velopharyngeal [pertaining to the soft palate and pharynx...pertains to speech] assessment today reveals symptoms of bilateral inconsistnet visible nasal emission and mild hypernasality [speech disorder occurring when the plate and pharnyx tissues do not close properly]. He obtained a weighted speech score of 2 today indicative of a borderline competent velopharyngeal mechanism.
The plan: we will begin monitoring the growth and development of Colin's jaws over time. He may be a candidate for a soft tissue balancing procedure in the future, as well as jaw surgery to level and align his dental planes.
The only speech articulation error noted during speech production today is interdentalization of sibilants (Christi's note: slurring of s's. Correct me if I'm wrong, but I'm pretty sure that a lot of younger kids have this and outgrow it.)
So there you have it. Nothing new really, except the shifting jaw. And the speech junk, which I am not concerned at all about. :) Obviously, Colin is having no difficulty communicating. Ha!
Jeremy is sleeping soundly in our own bed. Yah! Colin is concerned that he needs to be checked on consistently...I have assured him that Daddy has this sleeping thing down pat and can handle it on his own. If he's lucky he'll get 4 hours. Poor guy! I haven't even let Chloe see him yet. Once she realizes his home, she won't let him leave her side. At all...she misses him. Daddy's girl without a doubt.
I'll update after Monday's appointment, but I am off to spend the weekend with my WHOLE family!
Friday, October 06, 2006
A Series of Updates
Yesterday ended with Chloe's first trip to the ER. She's fine. More of a Mommy-freak out than anything. She loves standing in the bath, holding on to the side and then sitting with force so that the water splashes all around her. It always brings around a lot of giggles...from us all, except Jeremy, who usually worries she'll get hurt. (Fear confirmed) Honestly, I never expected anything negative to EVER come of it. The kids keep little plastic stacking cups in the tub, which by the way were made specifically for this purpose. As Chloe went to sit last night, one of the cups (upside down) slipped under her bum and actually cut her. And, of course, I freaked out. Apparently, that area bleeds a lot, so the water immediately turned pink and I freaked out. I couldn't tell what was bleeding exactly, or how bad it was, so Colin and I rushed her to the ER. We weren't even there an hour...thank goodness...the doctor basically just told me I freaked out. She's been fine today and I was glad that our biggest fear, the first potty, went smoothly, and the wound appears much better today.
Over the last 24 hours, Colin has developed a cold. Which, I am quickly beginning to believe may be turning into yet another sinus infection. So, we spent the evening fighting over medicine. Which, he eventually gagged down with minimal tears.
Which leads me to the final update. We received an update today in the mail of the summary from the Cleft-Craniofacial Team we met with on September 8th: Most of it is medical jargon, which I will look up this week, but I'm too tired right now, so I am just going to retype it. It states:
His left orbit is elevated somewhat greater than the right. His left cheek is somewhat hypoplastic. His left ear bas been reconstructed with otogenous cartilage. His mandible shows a 5 degrees upward cant with minimal change to the maxilla. His palate shows some hemiparesis on the left side. His cranial nerve exam was difficult because of inability to cooperate. (Of course, he was playing shy. We all know better. :)) Intraoral examination reveals the presence of mild left hemipalatal paresis with his palate elevating up and to the right. Perceptual velopharyngeal assessment today reveals symptoms of bilateral inconsistnet visible nasal emission and mild hypernasality. He obtained a weighted speech score of 2 today indicative of a borderline competent velopharyngeal mechanism.
The plan: we will begin monitoring the growth and development of Colin's jaws over time. He may be a candidate for a soft tissue balancing procedure in the future, as well as jaw surgery to level and align his dental planes.
The only speech articulation error noted during speech production today is interdentalization of sibilants (Christi's note: slurring of s's. Correct me if I'm wrong, but I'm pretty sure that a lot of younger kids have this and outgrow it.)
We head to genetics on Monday for a review of the breakdown of his diagnosis. Just to be sure that all of the bases are covered. Things seem to keep popping up, which I know we have been told to expect with his conditions, but the Craniofacial Team thinks that the new geneticist at Children's can help make us more aware of any outstanding issues which we haven't looked into yet.
The problem with GoldenHar, and Hemifacial Microsomia for that matter, is that they are both conditions in which an issue that wasn't present early on can develop over time just because our bodies change as we grow and Colin's bones, cartilage, growth patterns, etc. are different than the average person. So, as we've come to learn, most of this is just a waiting game.
Happy day tomorrow. Jeremy will be coming home for a few days. Colin is anxious to say the least.
Over the last 24 hours, Colin has developed a cold. Which, I am quickly beginning to believe may be turning into yet another sinus infection. So, we spent the evening fighting over medicine. Which, he eventually gagged down with minimal tears.
Which leads me to the final update. We received an update today in the mail of the summary from the Cleft-Craniofacial Team we met with on September 8th: Most of it is medical jargon, which I will look up this week, but I'm too tired right now, so I am just going to retype it. It states:
His left orbit is elevated somewhat greater than the right. His left cheek is somewhat hypoplastic. His left ear bas been reconstructed with otogenous cartilage. His mandible shows a 5 degrees upward cant with minimal change to the maxilla. His palate shows some hemiparesis on the left side. His cranial nerve exam was difficult because of inability to cooperate. (Of course, he was playing shy. We all know better. :)) Intraoral examination reveals the presence of mild left hemipalatal paresis with his palate elevating up and to the right. Perceptual velopharyngeal assessment today reveals symptoms of bilateral inconsistnet visible nasal emission and mild hypernasality. He obtained a weighted speech score of 2 today indicative of a borderline competent velopharyngeal mechanism.
The plan: we will begin monitoring the growth and development of Colin's jaws over time. He may be a candidate for a soft tissue balancing procedure in the future, as well as jaw surgery to level and align his dental planes.
The only speech articulation error noted during speech production today is interdentalization of sibilants (Christi's note: slurring of s's. Correct me if I'm wrong, but I'm pretty sure that a lot of younger kids have this and outgrow it.)
We head to genetics on Monday for a review of the breakdown of his diagnosis. Just to be sure that all of the bases are covered. Things seem to keep popping up, which I know we have been told to expect with his conditions, but the Craniofacial Team thinks that the new geneticist at Children's can help make us more aware of any outstanding issues which we haven't looked into yet.
The problem with GoldenHar, and Hemifacial Microsomia for that matter, is that they are both conditions in which an issue that wasn't present early on can develop over time just because our bodies change as we grow and Colin's bones, cartilage, growth patterns, etc. are different than the average person. So, as we've come to learn, most of this is just a waiting game.
Happy day tomorrow. Jeremy will be coming home for a few days. Colin is anxious to say the least.
Thursday, October 05, 2006
A Friend Suggested We Move to Canada
Yesterday made that idea feel very plausible. Free healthcare. For everyone. No insurance claims. No bills to sift through. No companies to call. On the other hand, I think I am very close to becoming an insurance claim expert. I mean, it only took me around 3 hours to make all of my calls yesterday to have claims resubmitted, to complete fund reimbursement requests, and to fight with our insurance companies regarding who should pay and what they should pay. Why, after six years, there are still issues with all of our doctors and insurance providers, I will never understand. This isn't rocket science people...same appointments, similar procedures, same billing procedures...yet, something always goes wrong. Yesterday's main issue included a denied claim from a surgery last spring. Apparently, it takes approximately 18 months for someone in billing to realize that the bill was not paid in full by one company or another. And, apparently the most obvious method for getting payment is to send a bill to me so that I can call them (the department sending the bill) and ask them to resubmit the claim with all of our insurance information, which of course they already have on file. Resubmiting without sending me a bill first would probably be entirely too time consuming. Oh, the US medical system is so grand.
To top it off, apparently Pennsylvania has changed the Medicaid system. So, I received information in the mail expressing an urgency for us to pick a carrier for Colin's Medicaid. This required calling the long list of doctor's, according to the person on the line from Enrollment Services, and requesting a list of the plans that they accepted. (Although the letter clearly stated that my Enrollment Specialist could help in providing this information.) I started the calling and on speciaist 3 decided to call it quits after realizing that all 3 accepted different plans. Too many tears (thanks to PMS) to continue calling and carrying on rational conversation. So, I will be working on that today, along with the rest of our insurance issues. Anyone out there who knows how to avoid the touchtone prompts? Feel free to share your tips. I am at this point praying that we are able to find a plan that the "most important" specialists share, so that we don't have to worry about a long list of consults with new doctors over the next month. Pray for that too. We like our doctors.
On a happier note, we visited our neighbors for dinner yesterday and the kids had a blast. Matt is a year younger than Colin and Chloe is a year younger than Karen's twins, Jon and Will. They always play so well together and it was nice for all of us to have company for dinner. And, of course, a little adult conversation is nice as well.
Jon and Will.
Chloe Elaine.
Colin and Matt.
To top it off, apparently Pennsylvania has changed the Medicaid system. So, I received information in the mail expressing an urgency for us to pick a carrier for Colin's Medicaid. This required calling the long list of doctor's, according to the person on the line from Enrollment Services, and requesting a list of the plans that they accepted. (Although the letter clearly stated that my Enrollment Specialist could help in providing this information.) I started the calling and on speciaist 3 decided to call it quits after realizing that all 3 accepted different plans. Too many tears (thanks to PMS) to continue calling and carrying on rational conversation. So, I will be working on that today, along with the rest of our insurance issues. Anyone out there who knows how to avoid the touchtone prompts? Feel free to share your tips. I am at this point praying that we are able to find a plan that the "most important" specialists share, so that we don't have to worry about a long list of consults with new doctors over the next month. Pray for that too. We like our doctors.
On a happier note, we visited our neighbors for dinner yesterday and the kids had a blast. Matt is a year younger than Colin and Chloe is a year younger than Karen's twins, Jon and Will. They always play so well together and it was nice for all of us to have company for dinner. And, of course, a little adult conversation is nice as well.
Jon and Will.
Chloe Elaine.
Colin and Matt.
Tuesday, October 03, 2006
My Girls ~
A great weekend with my wonderful girls! Ten years since graduation and little has changed. I love it!!! So happy to spend time with the best of the best. All of my love to all of you!!
Thursday, September 28, 2006
And the Days Drag On
I can hear it in Jeremy's voice when he calls how desperately he wants to be home. He is such a home-body. Most men look forward to time away from their whinny kids and nagging wife, not that we are either, of course. :) I'm sure he enjoyed the first few days away...a break from the husbandly/fatherly duties, but I could hear it today, on week three, how tired he is of all of this already. We miss him, too. Thanks to Sherri, Jeff, Tanner and McKenna for dinner this evening. It was nice to get out of the house and watch the girls play together. They are getting so big.We have gotten into a pretty decent routine, and I am thankful for that, but I miss Daddy playtime at night so Mommy can get some things done. And, we just miss him. Period. We are hoping he'll make it home Sunday, which might allow him to take Monday off for my birthday as well. The rain is putting a damper on their progress and there is talk of working straight through the weekend. Only 9 to 12 more weeks to go. Oh, the days drag on.
The days are dragging on for someone who has been very close to my heart lately and whose family has been filling my thoughts constantly. Emily Haughery, a friend from high school, has been watching her now 18-month old daughter struggle with a rare form of leukemia. Today they met with doctors at Johns Hopkins and are beginning to prepare for a bone marrow transplant that will transpire in a matter of weeks. I am asking that everyone reading this to take the time to register with the Central Blood Bank. It costs $52 online, but many of the local banks are able to waive the fee due to grants. Registering is easy...just a swab of the cheek, etc. You might not be a match for Alivia, but everyone on that list is someone's daughter, brother, mother, father, sister...and you could be their only means of survival. Please take the time. Visit the Central Blood Bank Online The individuals on the list have to find the best possible match for them before a transplant can happen; they simply need a transplant to live; and often thousands or tens of thousands can be tested before finding a match. I am pleading, that you please take the time to do this. Imagine saving a life. Being a hero. Please. Please. Please.
If you would like to read the Haughery's very personal story, Emily has been kind enough to update everyone regarding little Alivia through her blog. Take a minute to read a few of her posts and imagine yourself in their situation. You would never want to be there, but if you were, wouldn't you like to know that everyone that would/could help, did? And, please take the time to pray for this little one. Even if you can't find the "right" words, just pray simply for her healing. The Lord will hear us all, especially if the prayers come by the thousand
The days are dragging on for someone who has been very close to my heart lately and whose family has been filling my thoughts constantly. Emily Haughery, a friend from high school, has been watching her now 18-month old daughter struggle with a rare form of leukemia. Today they met with doctors at Johns Hopkins and are beginning to prepare for a bone marrow transplant that will transpire in a matter of weeks. I am asking that everyone reading this to take the time to register with the Central Blood Bank. It costs $52 online, but many of the local banks are able to waive the fee due to grants. Registering is easy...just a swab of the cheek, etc. You might not be a match for Alivia, but everyone on that list is someone's daughter, brother, mother, father, sister...and you could be their only means of survival. Please take the time. Visit the Central Blood Bank Online The individuals on the list have to find the best possible match for them before a transplant can happen; they simply need a transplant to live; and often thousands or tens of thousands can be tested before finding a match. I am pleading, that you please take the time to do this. Imagine saving a life. Being a hero. Please. Please. Please.
If you would like to read the Haughery's very personal story, Emily has been kind enough to update everyone regarding little Alivia through her blog. Take a minute to read a few of her posts and imagine yourself in their situation. You would never want to be there, but if you were, wouldn't you like to know that everyone that would/could help, did? And, please take the time to pray for this little one. Even if you can't find the "right" words, just pray simply for her healing. The Lord will hear us all, especially if the prayers come by the thousand
Tuesday, September 26, 2006
Great weekend!
From start to finish! It was great. Starting with a night out for Mommy. Thanks to Evie for watching the kids. It's amazing what a few hours away will do to refresh the spirit! Headed to Pittsburgh with Nat (thanks for coming, I really enjoyed spending alone time with you) to see Rach, a great friend from school perform at the Improv! She was awesome! And she performed for Comedy Central scouts on Sunday! Awesome! Awesome! Didn't see it, but I'm sure it was! There are blessings all around me!
Saturday was a nice lazy day with the kids...not much to report about, other than the fish and frog getting their tank cleaned. They all seem much happier! But, it was a nice, calm lazy day.
Sunday morning brought home Daddy for a few days! yea! We headed to Jeremy's dad's for the Steeler game (which we won't discuss) and then came home to visit with Evie! Off to bed with the kids and we followed shortly thereafter. No more late nights for the Carnahan's! Jeremy headed back to work Monday afternoon, but it was nice to visit. Both of the kids were happy to have him here and we all slept better Sunday night knowing that Daddy was back.
It's a simple life, but I love it!
Saturday was a nice lazy day with the kids...not much to report about, other than the fish and frog getting their tank cleaned. They all seem much happier! But, it was a nice, calm lazy day.
Sunday morning brought home Daddy for a few days! yea! We headed to Jeremy's dad's for the Steeler game (which we won't discuss) and then came home to visit with Evie! Off to bed with the kids and we followed shortly thereafter. No more late nights for the Carnahan's! Jeremy headed back to work Monday afternoon, but it was nice to visit. Both of the kids were happy to have him here and we all slept better Sunday night knowing that Daddy was back.
It's a simple life, but I love it!
Thursday, September 21, 2006
Pray for the Doctors
Sometimes Colin's wisdom blows me away. Today, while he was helping me package toys up to send to Hershey Medical, where a friend from high school's one-year-old daughter has been being treated. He asked me what was wrong with her little girl. I explained to the best of my knowledge that she was sick and the doctor's were having a hard time figuring out what was wrong, but that they were working hard to find out and make her better. He said that it was sad that the baby was sick and he didn't want anything to happen to her, of course adding his two cents about the hospitals and surgeries. I asked if he'd like to say a prayer for her he said, "yeah, but she's God's child and he'll take care of her. I want to say a prayer for the doctor's so they'll find out how to make her better." And we did just that. Thank you, Lord, for blessing me with this amazingly insightful child. I am grateful everyday for them both!
Wednesday, September 20, 2006
Back to the Beginning
So, it seems the blog's a hit. Relaying the events of yesterday's appointment this way was so much easier on me, as long as all of you are reading. If you are, just post a quick comment on this, so I know who is...that way, I'll know who I still need to call personally.
So, I thought that tonight I would go back and give you all a break down of Colin's condition. I know that it is hard to keep track of, and after realizing how many of you I hadn't kept up to date, I just wondered how many of you even had a full grasp of what all he has been dealing with over the last six years. Also, I think that this blog may quickly become a testiment to the life of my children, so I would like to include as much as possible. And, I think it's helpful to see it all in writing.
So, at six months, Colin was diagnosed with GoldenHar Syndrome and Hemifacial Microsomia. He has been affected very mildly by both. Google either of them and you will quickly agree. The GoldenHar affects him in the following ways: He has scoliosis(curvature of the spine of 28%) and hemivertebrae (his vertebrae, rather than being one bone, are made up of multiple, mis-shapen bones); he was born with atresia (closed ear canals - both inner and outer) and with what the doctors termed a skin tag...basically an ear without any cartilidge; he has a weak digestive system (although time seems to have taken care of this issue on its own); he also has a sacral dimple (which is located slightly above his bum and typically is a sign of abnormalities in the spinal cord); thus he has an abnormal spinal cord...his cord is filled with a spongy material that is unlike the clear liquid that fills a normal cord, (so far no complications from this, but one more thing to keep an eye on), he also has a flipped heart (basically the front is facing the back of his body -- but it as well is functioning fine); he has Microphthalmia (his left eye is smaller than the right) and his vision is a little off, but does not need correcting yet, just watching; he also had motility disorder, which is an decreased ability of spontaneous movement in this eye, but by the grace of God that to has improved over time. The Hemifacial Microsomia (literally means half-faced smallness) affects him in the following ways: the left side of his entire face is structurally smaller than the right, although it isn't noticable to the naked eye, at least I don't think it is; he has a soft upper palate (the roof of his mouth), which makes him more susceptable to strep throat, ear infections, sinus infections and conditions often associated with Asthma as the palate doesn't close firmly against the back of his throat when he opens his mouth so therefore, it is much easier for bacteria to enter these areas. It also led to early feeding problems. Smiles for those who struggled through those feedings with us; and causes him to snore (which his mom finds very cute); it is also causing a shift in his lower mandible (jaw bone) to the right, for which we have just seen a new specialist and aren't sure what all will be in store for him in this area yet. So there you have it I think. Although it is highly possible that I missed something.
GoldenHar Syndrome, as I have discovered over the years, is unbelievely complex and often varies from child to child. Most of the children affected do not have all of the symptoms, but are affected by at least 3 to be considered affected. Not all kids with GoldenHar have Hemifacial Microsomia, but it is very common for them to have both as I have come to discover as well.
Quite a lot, huh. And I know that everyone reading this most likely just discovered something they didn't know or forgot about. It is a full-time job keeping track of it all (thank goodness I no longer have a full-time job!) and we often have a hard time remembering it all as well. So hopefully this helps. That's the first time I actually wrote it all down in one place...it's a little overwhelming, huh?
So, now time for the blessings, and if you've already taken the time to look either of these conditions up, you are already counting them:
1. his speech is not impaired
2. he developed physically at a normal rate: rolling, sitting, walking
3. he is overly intelligent and suffers from no signs (obviously) of mental retardation
All of these are the scariest symtoms of the condition, although there are many more, and I am thankful everyday that he was unaffected by these symptoms.
So there you have it. I plan to give a breakdown of his corrective surgeries etc as well, but will save that medical lesson for another day!
Today was a great day for all...picture day at school for Colin; no laps for being difficult at playtime! which he was very proud about; and an all around calm day for Chloe and I, which included a much needed lunchtime visit from friends! Thanks guys and we need to do it again soon. It was especially nice to see K...missed you more than you know. Thanks again for making time for me!
Once again, if you're reading, please let me know in one way or another so that I know who my audience is out there.
So, I thought that tonight I would go back and give you all a break down of Colin's condition. I know that it is hard to keep track of, and after realizing how many of you I hadn't kept up to date, I just wondered how many of you even had a full grasp of what all he has been dealing with over the last six years. Also, I think that this blog may quickly become a testiment to the life of my children, so I would like to include as much as possible. And, I think it's helpful to see it all in writing.
So, at six months, Colin was diagnosed with GoldenHar Syndrome and Hemifacial Microsomia. He has been affected very mildly by both. Google either of them and you will quickly agree. The GoldenHar affects him in the following ways: He has scoliosis(curvature of the spine of 28%) and hemivertebrae (his vertebrae, rather than being one bone, are made up of multiple, mis-shapen bones); he was born with atresia (closed ear canals - both inner and outer) and with what the doctors termed a skin tag...basically an ear without any cartilidge; he has a weak digestive system (although time seems to have taken care of this issue on its own); he also has a sacral dimple (which is located slightly above his bum and typically is a sign of abnormalities in the spinal cord); thus he has an abnormal spinal cord...his cord is filled with a spongy material that is unlike the clear liquid that fills a normal cord, (so far no complications from this, but one more thing to keep an eye on), he also has a flipped heart (basically the front is facing the back of his body -- but it as well is functioning fine); he has Microphthalmia (his left eye is smaller than the right) and his vision is a little off, but does not need correcting yet, just watching; he also had motility disorder, which is an decreased ability of spontaneous movement in this eye, but by the grace of God that to has improved over time. The Hemifacial Microsomia (literally means half-faced smallness) affects him in the following ways: the left side of his entire face is structurally smaller than the right, although it isn't noticable to the naked eye, at least I don't think it is; he has a soft upper palate (the roof of his mouth), which makes him more susceptable to strep throat, ear infections, sinus infections and conditions often associated with Asthma as the palate doesn't close firmly against the back of his throat when he opens his mouth so therefore, it is much easier for bacteria to enter these areas. It also led to early feeding problems. Smiles for those who struggled through those feedings with us; and causes him to snore (which his mom finds very cute); it is also causing a shift in his lower mandible (jaw bone) to the right, for which we have just seen a new specialist and aren't sure what all will be in store for him in this area yet. So there you have it I think. Although it is highly possible that I missed something.
GoldenHar Syndrome, as I have discovered over the years, is unbelievely complex and often varies from child to child. Most of the children affected do not have all of the symptoms, but are affected by at least 3 to be considered affected. Not all kids with GoldenHar have Hemifacial Microsomia, but it is very common for them to have both as I have come to discover as well.
Quite a lot, huh. And I know that everyone reading this most likely just discovered something they didn't know or forgot about. It is a full-time job keeping track of it all (thank goodness I no longer have a full-time job!) and we often have a hard time remembering it all as well. So hopefully this helps. That's the first time I actually wrote it all down in one place...it's a little overwhelming, huh?
So, now time for the blessings, and if you've already taken the time to look either of these conditions up, you are already counting them:
1. his speech is not impaired
2. he developed physically at a normal rate: rolling, sitting, walking
3. he is overly intelligent and suffers from no signs (obviously) of mental retardation
All of these are the scariest symtoms of the condition, although there are many more, and I am thankful everyday that he was unaffected by these symptoms.
So there you have it. I plan to give a breakdown of his corrective surgeries etc as well, but will save that medical lesson for another day!
Today was a great day for all...picture day at school for Colin; no laps for being difficult at playtime! which he was very proud about; and an all around calm day for Chloe and I, which included a much needed lunchtime visit from friends! Thanks guys and we need to do it again soon. It was especially nice to see K...missed you more than you know. Thanks again for making time for me!
Once again, if you're reading, please let me know in one way or another so that I know who my audience is out there.
Tuesday, September 19, 2006
We're on the way to BAHA!!!
It looks like the BAHA is a go. Colin was a little nervous when they first attempted to attach it; I think the doctor and I weren't clear enough on what to expect for him. Once she showed him how it vibrated, using his finger, he was all for it. As soon as they got it on, he smiled really big and sat up really straight. Then Chloe giggled behind him and he flipped around to her and exclaimed, "I think I could hear her from the whole way up in our attic now!" Pretty cool. He's really excited about it.
The doctor explained the following to him (and me): once we receive the BAHA (2 to 4 weeks) we will have a soft band for him to use. The hearing aid is about the size of the tip of my thumb (1/2 and inch or so) the band will temporarily keep it in place for him. It sort of looks like the cotton head bands from the 80s. A surgery would then be scheduled if he is happy with the sounds he is hearing. They will surgically anchor a small button to his skull bone, which has a small button (basically the size of a snap on baby clothes) into which the hearing aid will snap. I thought the idea of another surgery would freak him out, but he automatically went into question mode...can he take it off to sleep (yes), can he wear it in water (no), will the surgery be long (no...in and out of the hospital most likely in a day or so). She asked if he thought he would be interested in getting it done. He immediately said "sure." He's so grown up, and I am so proud.
Now, we just have to work through the insurance logistics, but it looks like Colin's world is going to be a lot louder from now on. Pretty exciting.
Chloe as always was an angel the entire trip! What a blessing they both are to me.
BTW...we all miss Daddy!
The doctor explained the following to him (and me): once we receive the BAHA (2 to 4 weeks) we will have a soft band for him to use. The hearing aid is about the size of the tip of my thumb (1/2 and inch or so) the band will temporarily keep it in place for him. It sort of looks like the cotton head bands from the 80s. A surgery would then be scheduled if he is happy with the sounds he is hearing. They will surgically anchor a small button to his skull bone, which has a small button (basically the size of a snap on baby clothes) into which the hearing aid will snap. I thought the idea of another surgery would freak him out, but he automatically went into question mode...can he take it off to sleep (yes), can he wear it in water (no), will the surgery be long (no...in and out of the hospital most likely in a day or so). She asked if he thought he would be interested in getting it done. He immediately said "sure." He's so grown up, and I am so proud.
Now, we just have to work through the insurance logistics, but it looks like Colin's world is going to be a lot louder from now on. Pretty exciting.
Chloe as always was an angel the entire trip! What a blessing they both are to me.
BTW...we all miss Daddy!
Monday, September 18, 2006
BAHA...sounds like a retreat.
Let's hope it is a treat at least. We head down to Children's tomorrow to have Colin fitted for a BAHA (Bone Anchored Hearing Aid). Hopes for reconstructive surgery to correct his atresia (closed ear canal) and possibly provide him with more complete hearing were crushed after an MRI was done in the Spring. The inner and outer canals are too narrow and if surgery was done, after scar tissue build up, we would be back where we started. So, we are looking into have a surgery done for a semi-permanent BAHA.
The doctor has warned us that kids Colin's age often don't like the BAHA's. I guess hearing through bone-anchoring is a lot different than what we're used to, not to mention it will make everything sound ten times louder to him, but we are hoping for the best and that he sees a remarkable difference with it. We may be able to try it out tomorrow and see what he thinks. I'll keep you posted!
We headed to Masontown Sunday to see Jeremy. It was a nice visit once we got there...needless to say we were hit by a Harley on the way. NICE! Everyone was fine. Thank the Lord!!! Even the riders of the motorcycle. Traffic had stopped abruptly in front of us, and unfortunately the bike was following to close behind and was not able to stop on the freshly paved asphalt. Luckily he was able to lay the bike down before impact and he and his passenger were both fine. We arrived two hours late, but we arrived nonetheless. Safe and Sound!
The doctor has warned us that kids Colin's age often don't like the BAHA's. I guess hearing through bone-anchoring is a lot different than what we're used to, not to mention it will make everything sound ten times louder to him, but we are hoping for the best and that he sees a remarkable difference with it. We may be able to try it out tomorrow and see what he thinks. I'll keep you posted!
We headed to Masontown Sunday to see Jeremy. It was a nice visit once we got there...needless to say we were hit by a Harley on the way. NICE! Everyone was fine. Thank the Lord!!! Even the riders of the motorcycle. Traffic had stopped abruptly in front of us, and unfortunately the bike was following to close behind and was not able to stop on the freshly paved asphalt. Luckily he was able to lay the bike down before impact and he and his passenger were both fine. We arrived two hours late, but we arrived nonetheless. Safe and Sound!
Wednesday, September 13, 2006
Giving it a try.
Just thought I'd try it out. Seems harder and harder to keep in touch and thought this might be a way (mostly for those of you far away) to keep everyone up to date on the in's and out's of our lives. Plus, it's kind of fun and since I haven't had the time to scrapbook lately, I figure I'll capture some of the moments electronically for now.
Jeremy left Monday for work...although he'll be gone during the week , it looks like he'll make it home on Sundays to visit. So, the kids and I are adjusting to life without Daddy. Slowly, but surely.
Colin is excited about first grade and read most of his reading homework tonight will very little help from Mommy. Amazing what a few days in school will do for you!
Chloe is on the move, and currently destroying the latest issue of "Baby Talk" page by page. She is pulling up and gaining confidence in the field of walking and should be off soon.
I am trully blessed with this family I have and thankful to be where I am in life. Ta-ta for now and more later.
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