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Friday, October 28, 2011
Tuesday, April 6, 2010
Genetics 4-6-10
Followed up with our Geneticist today. He has ordered the following tests:
FOXG1 (to be sent to the University of Chicago for reading and storage of DNA)
Purine and Pyriidine Panel (XMIS)
Serum Alkaline Phosphatase
DNA Isolation
He is going to discuss Megan with his collegues. As she is his little "mystery" :o)
FOXG1 (to be sent to the University of Chicago for reading and storage of DNA)
Purine and Pyriidine Panel (XMIS)
Serum Alkaline Phosphatase
DNA Isolation
He is going to discuss Megan with his collegues. As she is his little "mystery" :o)
Thursday, April 9, 2009
4-9-09
Megan's genetic "chip" testing came back normal again. Another year of not knowing what's missing. I am going to just give her my own diagnosis. Megan Syndrome. Here are the indicators: Complete Happiness, Short and Beautiful
Friday, January 23, 2009
Monday, November 3, 2008
Journal 2004-2008
Monday, November 03, 2008
Megy continues to do wonderful. She still is not talking, but just yesterday made a HUGE development by puckering her lips! She also is doing very well with communicating by sign. She is 4 1/2 now and cognitatively is roughly about 2. She loves her school and loves anything that has music and dancing. No new diagnosis, just sticking with what we have. The asthma is under control, as is the apnea.
Saturday, April 28, 2007
Megy is doing GREAT. She is walking, albeit like a drunken sailor (she gets that from her dad) She has a new pair of braces too. We will be meeting with the neuro-developmental team which consists of nuerologists, therapist and phychologists and hopefully we will have some insight on her congatitive abilities. She still is not talking but she is a spunky little 3 year old.
Sunday, August 13, 2006
Megy stood up all on her own!!!!!!
Thursday, August 10, 2006
Oh exhausting! As you all know, Megy and I just returned from Boston where we met with a WONDERFUL Genetics doctor, Dr. Cox. We went for "Dubowitz Day" where we and 6 other families got together and had appointments with Dr. Cox, who is one of the only Dr's familiar with the syndrome. I half expected to get there and he tell us that's not the syndrome she has.
We met a lot of wonderful children and parents and the experience was great. We spent almost 2 hours with Dr. Cox where he questioned, measured and studied Megan and me! He was much more in depth than any Genetics Doctor we have seen to this point. Unfortunately, he could not confirm or reject the Dubowitz diagnosis. He said she definately fits most the symptoms, but that her head is large compared to her height which is not common in Dubowitz. He feels Dubowitz is an approiate diagnosis at this point, but urged us to keep looking. He offered some other tests that had not been done and seemed genuinely concerned for Megan. A syndrome that he did suggest is called Newnan's syndrome (that spelling is wrong, I will update when I hear back from the office). I don't know much about it, but there is a test for it, so we are waiting on those results. He is also testing for another type of dystrophy (not muscular-she's been tested for that). Check back in the next few days and weeks for test results.
Thursday, August 10, 2006
One of the tests run was for:
Mitochondrial Disease
http://www.clevelandclinic.org/health/health-info/docs/1600/1678.asp?index=6957
Monday, August 07, 2006
Well, we are off tomorrow to Boston to see Dr. Cox, a genetics doctor with knowledge of Dubowitz. We will also get to meet other families with the syndrome. Wish us luck! As for Megy, he is doing great! Her rehab doctor said she doesn't need the leg braces anymore. She is still walking with the walker. Still not doing that on her own or talking, but we are working weekly with a speech therpist, feeding therapist and Physical therapist. She is growing too. 24lbs and 30 inches! Finally.
Wednesday, March 08, 2006
Yesterday was our follow up in Genetics. According to the Dr., the team of Genetic specialists and some visiting professors have collobrated on Megans case and concur that she displays Dubowitz Syndrome. This is a rare genetic disorder. From my understanding it causes intrauterine dwarfism. Some of the traits that she displays are the wide eyes, large bridge nose, feeding troubles, small statue, language and developmental delays and the mirror of her size to her development. The prognosis is uneventful. He is sure she will eventually walk and talk, though those may both take time. She will probably only grow to about 4 foot. Not so odd in my family. :o) I will post more as I learn about it and discuss the diagnosis with our Neurologist, Gastroenterologist and Rehabilitation doctors. In the mean time if you would like to read up on it some, here is a website that I found: (this link is also on her home page)
http://homepage.mac.com/flowergrrl77/dubowitz.org/article.html
Wednesday, February 08, 2006
Well the MRI showed the same scar tissue as before. However it also showed some abnormalaties to the Corpus Callusum. This is the part the runs down the center, connecting the left to the right. The abnormalaties are in the rearfibers of the area. Not too sure what that means just yet. We are scheduled for an EEG to test for seizers and may opt for a muscle biopsy. I also finagled my way into the Infant neurodevelopment clinic (there is a year waiting list) for wednesday the 15th. Hoping to find someone to manage all her care. Wish us luck!
Thursday, January 12, 2006
Well she had the MRI this morning, won't actually know
the results until fri or monday. She had trouble
waking up from the sedation. Her stats dropped pretty
low and they had to give her oxygen while in the
machine. They were concerned with her oxidation levels
dropping so low when she was upset, they think I
should mention that to her pediatrition. But she
leveled out after a hour and a half and she seemed
stable when she was calm. I will let you know if the
MRI shows any change.
Saturday, December 17, 2005
Since our bout with 9-1-1, we have also had to call poison control for Megy. Fortunately the silicon packets are not poisonous, just a choking hazard. I think I am going for the mother of the year award.
Megy is crawling more now. Not a lot, but she can get to her food no matter how far away. She is still on the feeding tube, but she does eat cheerios and baby foods in moderation.
She got her braces and does not complain when she wears them (about an hour a day. Of course that is Megan.
Wednesday, October 05, 2005
First, Megy took 2 forward crawling steps. It was
while I was at school and I haven't seen her do it
again, but Jim said she did. This is a huge
accomplishment.
Second, we saw the Physical Medicine doctor and we
talked more about the Cerebral Palsy. He officially
diagnosed her with Clinical CP and confirmed the
research I had found on CP being non-progressive. He
said he can't predicted things like if she will walk,
but she is making great strides. He ordered braces for
her feet, and once she is standing, we will probably
get a walker to help her walk. That is probably a good
six months away.
Third, we had our first experience with 9-1-1 last
night. Now we've had kids fall down stairs, go head
first into concrete and never called a squad. Megy is
so excited about food, that she will snatch it out of
you hands. Well she started choking on a piece of
bread and we were not having any luck with the
heimlick(sp) or banging on her back. She was purple by
the time we got a fireman on the phone, but
fortunately while I was explaining what was happening,
Jim banged it out of her and she started breathing
again. She appears to be doing fine and is back to her
laughing self. I'm glad that night is over.
Wednesday, August 31, 2005
Well- what a roller coaster. Todays ABR, showed that in fact Megys hearing is normal! Apparently the other test was tainted by the trauma of surgery and blood and fluid. So, we are a no-go on hearing aids for now! They do want to follow her though, so we are not out of the water yet. But good news today!
Tuesday, August 30, 2005
WOW-we actually got somewhere at Childrens this week! The results of Megy's hearing test showed about a 75% hearing loss. They are doing a CT tomorrow and another hearing test to verify that percentage. She will be fitted for hearing aids next week. Her GI Dr thinks she is looking good, growing on her own curve, but growing. She will still be on a feeding tube for at least 6 more months.
Thursday, July 14, 2005
Well, Megy's swallow study went OK. She did great on the spoon, She did aspirate on the regular thin liquid, but no aspiration when she was spoon fed, semi thick and thick. Until now, she was OKed for thick, they have now oked her for semi thick, so we are slowly getting there.
We did try a sippy cup, and the lack of control causes her to aspirate, even on the thicks (she has more control with a spoon) . So for now we are to up the amounts of food that she takes in daily and work toward starting some sippy therapy in the next month or two.
Tuesday, July 05, 2005
Our new Geneticist is much more impressive than the last. He is sure it is a genetic disorder, but what we are unsure. Jim and I are labeling it "Megan's Syndrome" The symptoms are extreme happiness and unconditional love giver. Mouth is always in the smiling position and a glowing ambiance to her.
Other than that, she is scheduled for another swallow study on the 14th, hopefully we will be able to introduce more food and even a cup! The Phsy Med Dr. thinks she will be ready for leg braces around 18 months. We'll see, she still doesn't put much weight through her legs.
Tuesday, June 07, 2005
Well Megan could not have the hearing test...again...because there is still fluid on her ears. So that means tubes. She is scheduled for that on July 13th. However, she is thriving wonderfully and growing and developing more every day.
Monday, May 23, 2005
Megy's PT went well today. The therapist worked us in every week, so we will go there every Thursday, at least throught the summer. That is in addition to the OT/PT/ST that comes to the house to work with her weekly. She gave us some exercises to work on that will help Megy put weight on her legs and feet. So we worked on that and with her on her tummy.
Tuesday, May 17, 2005
Megan had her first appt with the speech therapist today. It went very well. They gave us some swap like things to run along the inside of her cheek and along her gums and tounge. It promotes the muscles used in feeding. The direction of the swabbing discourages gaging. We also worked to get her to put toys in her mouth. Wow this seems so backwards, Put toys in your mouth, take the pacifiar. :o)
Monday is PT at Childrens and Wed is OT here at the house.
Monday, May 16, 2005
After a 3 hour wait because the Dr. "didn't know I was there", the MD Dr. said he wasn't "impressed" that what Megan has is a muscle disease. He wants her to work with Therapy and see in back in 3 months. In the meantime go back to Neurology and see what the next steps are in the testing phase.
On the other hand, we were put in touch with The Childhood League and they will be coming out to our house to do PT/OT/ST once a week. We also will be doing PT at the hospital Every other week, all of this starts tomorrow, so we are excited to get the therapy going. She is doing wonderful though. She rolled over on 4/13, though she's not a rolly pollie like most babies are when they learn that trick, she is beginning to do it more frequently about once a day. Spending more time on her belly as well.
Monday, April 25, 2005
I hate Childrens Hospital. Megy's hearing test showed a mild hearing loss, but that could be influenced by fluid. So she goes back to ENT in 6 weeks to see if there is still fluid, if so she will be having the tubes put in. He said it is common for children with servere reflux and G-Tubes. GI said OK, see you back in 3 months. However her button came out on us (while we were in Arizona) so that was a fiasco, for me anyways. Janet handled it well. I would like to get paid the big bucks to say "see you in 6 weeks!"
Neurology was very informative and scheduled us for several tests. We have an appointment with a Muscular Dystrophy Specialist next week.
Wednesday, March 30, 2005
Megan is doing well with eating. She loves the spoon. Not too fond of the bottle. We had a Physical therapy evaluation on the 25th. Their diagnosis. She needs therapy. (Thanks-Like we didn't already know that. Isn't that why we were there?) So They added her to the wait list! So For her birthday many family members got her developmental toys and she is doing great with them. She has become much more animated and rocking around. Though she's not rolling or sitting yet, I am sure she will catch up soon.
Her 1st birthday was yesterday and yes, we let her have chocolate cake. Ok-Just a lick of the icing, but cute nonetheless. In the next two weeks Megy has GI, neurology and a hearing test so we should have lots of updates.
Monday, March 07, 2005
Todays swallow study went well. Megan did not aspirate on a thick consistancy, so we are allowed to introduce her to the bottle and spoon with those thick types of food. It will be a slow process only an ounce a day to begin. She will still receive her main nurishment via the button for at least 4 more months, but at least we can get her some foods that are high in calories and nutritional value to aid in the reproduction of those mylin cells.
Friday, March 04, 2005
Well, the MRI showed some damage to Megan’s brain probably caused by a series of strokes. She has been diagnosed with tetraplegia Cerebral Palsy. The good news is that the missing cells, myelin, do reproduce until the age of 2 and an infants brain can learn to adjust. However, there is no way to know what long term effects there might be. For now, working with physical, occupational and speech therapy on a weekly basis is what is best. We will update again after she sees the neurologist on April 5. ***** Keep S'myelin *****
Saturday, February 19, 2005
Well we still have the MIC-Key. Next Swallow study is the beginning of March. As of her last appt, she has not grown in 2 months and lost some weight. We are scheduled for a neurology visit to see if there is something else holding her back.Genetics wants us to start some physical thepary because she isn't rolling or sitting yet. Also a hearing test is in here future. Eyes are looking fine and not in need of surgery as of now So no new news, but I will keep you posted.
Monday, November 15, 2004
Megy is doing well. She had her PEG tube taken out and replaced with a MIC-Key, it's a button. Works the same way, but less distracting. Her reflux has gotten much better and her laringomalacia, though still present is getting better as well. We are going to start with a therapist to work he onto feeding by mouth if the next swallow study shows less aspiration. She is a happy, otherwise healthy baby. Her eye follow-ups revealed that she may not need the eye surgeries! :o) We are still praying!
Megy continues to do wonderful. She still is not talking, but just yesterday made a HUGE development by puckering her lips! She also is doing very well with communicating by sign. She is 4 1/2 now and cognitatively is roughly about 2. She loves her school and loves anything that has music and dancing. No new diagnosis, just sticking with what we have. The asthma is under control, as is the apnea.
Saturday, April 28, 2007
Megy is doing GREAT. She is walking, albeit like a drunken sailor (she gets that from her dad) She has a new pair of braces too. We will be meeting with the neuro-developmental team which consists of nuerologists, therapist and phychologists and hopefully we will have some insight on her congatitive abilities. She still is not talking but she is a spunky little 3 year old.
Sunday, August 13, 2006
Megy stood up all on her own!!!!!!
Thursday, August 10, 2006
Oh exhausting! As you all know, Megy and I just returned from Boston where we met with a WONDERFUL Genetics doctor, Dr. Cox. We went for "Dubowitz Day" where we and 6 other families got together and had appointments with Dr. Cox, who is one of the only Dr's familiar with the syndrome. I half expected to get there and he tell us that's not the syndrome she has.
We met a lot of wonderful children and parents and the experience was great. We spent almost 2 hours with Dr. Cox where he questioned, measured and studied Megan and me! He was much more in depth than any Genetics Doctor we have seen to this point. Unfortunately, he could not confirm or reject the Dubowitz diagnosis. He said she definately fits most the symptoms, but that her head is large compared to her height which is not common in Dubowitz. He feels Dubowitz is an approiate diagnosis at this point, but urged us to keep looking. He offered some other tests that had not been done and seemed genuinely concerned for Megan. A syndrome that he did suggest is called Newnan's syndrome (that spelling is wrong, I will update when I hear back from the office). I don't know much about it, but there is a test for it, so we are waiting on those results. He is also testing for another type of dystrophy (not muscular-she's been tested for that). Check back in the next few days and weeks for test results.
Thursday, August 10, 2006
One of the tests run was for:
Mitochondrial Disease
http://www.clevelandclinic.org/health/health-info/docs/1600/1678.asp?index=6957
Monday, August 07, 2006
Well, we are off tomorrow to Boston to see Dr. Cox, a genetics doctor with knowledge of Dubowitz. We will also get to meet other families with the syndrome. Wish us luck! As for Megy, he is doing great! Her rehab doctor said she doesn't need the leg braces anymore. She is still walking with the walker. Still not doing that on her own or talking, but we are working weekly with a speech therpist, feeding therapist and Physical therapist. She is growing too. 24lbs and 30 inches! Finally.
Wednesday, March 08, 2006
Yesterday was our follow up in Genetics. According to the Dr., the team of Genetic specialists and some visiting professors have collobrated on Megans case and concur that she displays Dubowitz Syndrome. This is a rare genetic disorder. From my understanding it causes intrauterine dwarfism. Some of the traits that she displays are the wide eyes, large bridge nose, feeding troubles, small statue, language and developmental delays and the mirror of her size to her development. The prognosis is uneventful. He is sure she will eventually walk and talk, though those may both take time. She will probably only grow to about 4 foot. Not so odd in my family. :o) I will post more as I learn about it and discuss the diagnosis with our Neurologist, Gastroenterologist and Rehabilitation doctors. In the mean time if you would like to read up on it some, here is a website that I found: (this link is also on her home page)
http://homepage.mac.com/flowergrrl77/dubowitz.org/article.html
Wednesday, February 08, 2006
Well the MRI showed the same scar tissue as before. However it also showed some abnormalaties to the Corpus Callusum. This is the part the runs down the center, connecting the left to the right. The abnormalaties are in the rearfibers of the area. Not too sure what that means just yet. We are scheduled for an EEG to test for seizers and may opt for a muscle biopsy. I also finagled my way into the Infant neurodevelopment clinic (there is a year waiting list) for wednesday the 15th. Hoping to find someone to manage all her care. Wish us luck!
Thursday, January 12, 2006
Well she had the MRI this morning, won't actually know
the results until fri or monday. She had trouble
waking up from the sedation. Her stats dropped pretty
low and they had to give her oxygen while in the
machine. They were concerned with her oxidation levels
dropping so low when she was upset, they think I
should mention that to her pediatrition. But she
leveled out after a hour and a half and she seemed
stable when she was calm. I will let you know if the
MRI shows any change.
Saturday, December 17, 2005
Since our bout with 9-1-1, we have also had to call poison control for Megy. Fortunately the silicon packets are not poisonous, just a choking hazard. I think I am going for the mother of the year award.
Megy is crawling more now. Not a lot, but she can get to her food no matter how far away. She is still on the feeding tube, but she does eat cheerios and baby foods in moderation.
She got her braces and does not complain when she wears them (about an hour a day. Of course that is Megan.
Wednesday, October 05, 2005
First, Megy took 2 forward crawling steps. It was
while I was at school and I haven't seen her do it
again, but Jim said she did. This is a huge
accomplishment.
Second, we saw the Physical Medicine doctor and we
talked more about the Cerebral Palsy. He officially
diagnosed her with Clinical CP and confirmed the
research I had found on CP being non-progressive. He
said he can't predicted things like if she will walk,
but she is making great strides. He ordered braces for
her feet, and once she is standing, we will probably
get a walker to help her walk. That is probably a good
six months away.
Third, we had our first experience with 9-1-1 last
night. Now we've had kids fall down stairs, go head
first into concrete and never called a squad. Megy is
so excited about food, that she will snatch it out of
you hands. Well she started choking on a piece of
bread and we were not having any luck with the
heimlick(sp) or banging on her back. She was purple by
the time we got a fireman on the phone, but
fortunately while I was explaining what was happening,
Jim banged it out of her and she started breathing
again. She appears to be doing fine and is back to her
laughing self. I'm glad that night is over.
Wednesday, August 31, 2005
Well- what a roller coaster. Todays ABR, showed that in fact Megys hearing is normal! Apparently the other test was tainted by the trauma of surgery and blood and fluid. So, we are a no-go on hearing aids for now! They do want to follow her though, so we are not out of the water yet. But good news today!
Tuesday, August 30, 2005
WOW-we actually got somewhere at Childrens this week! The results of Megy's hearing test showed about a 75% hearing loss. They are doing a CT tomorrow and another hearing test to verify that percentage. She will be fitted for hearing aids next week. Her GI Dr thinks she is looking good, growing on her own curve, but growing. She will still be on a feeding tube for at least 6 more months.
Thursday, July 14, 2005
Well, Megy's swallow study went OK. She did great on the spoon, She did aspirate on the regular thin liquid, but no aspiration when she was spoon fed, semi thick and thick. Until now, she was OKed for thick, they have now oked her for semi thick, so we are slowly getting there.
We did try a sippy cup, and the lack of control causes her to aspirate, even on the thicks (she has more control with a spoon) . So for now we are to up the amounts of food that she takes in daily and work toward starting some sippy therapy in the next month or two.
Tuesday, July 05, 2005
Our new Geneticist is much more impressive than the last. He is sure it is a genetic disorder, but what we are unsure. Jim and I are labeling it "Megan's Syndrome" The symptoms are extreme happiness and unconditional love giver. Mouth is always in the smiling position and a glowing ambiance to her.
Other than that, she is scheduled for another swallow study on the 14th, hopefully we will be able to introduce more food and even a cup! The Phsy Med Dr. thinks she will be ready for leg braces around 18 months. We'll see, she still doesn't put much weight through her legs.
Tuesday, June 07, 2005
Well Megan could not have the hearing test...again...because there is still fluid on her ears. So that means tubes. She is scheduled for that on July 13th. However, she is thriving wonderfully and growing and developing more every day.
Monday, May 23, 2005
Megy's PT went well today. The therapist worked us in every week, so we will go there every Thursday, at least throught the summer. That is in addition to the OT/PT/ST that comes to the house to work with her weekly. She gave us some exercises to work on that will help Megy put weight on her legs and feet. So we worked on that and with her on her tummy.
Tuesday, May 17, 2005
Megan had her first appt with the speech therapist today. It went very well. They gave us some swap like things to run along the inside of her cheek and along her gums and tounge. It promotes the muscles used in feeding. The direction of the swabbing discourages gaging. We also worked to get her to put toys in her mouth. Wow this seems so backwards, Put toys in your mouth, take the pacifiar. :o)
Monday is PT at Childrens and Wed is OT here at the house.
Monday, May 16, 2005
After a 3 hour wait because the Dr. "didn't know I was there", the MD Dr. said he wasn't "impressed" that what Megan has is a muscle disease. He wants her to work with Therapy and see in back in 3 months. In the meantime go back to Neurology and see what the next steps are in the testing phase.
On the other hand, we were put in touch with The Childhood League and they will be coming out to our house to do PT/OT/ST once a week. We also will be doing PT at the hospital Every other week, all of this starts tomorrow, so we are excited to get the therapy going. She is doing wonderful though. She rolled over on 4/13, though she's not a rolly pollie like most babies are when they learn that trick, she is beginning to do it more frequently about once a day. Spending more time on her belly as well.
Monday, April 25, 2005
I hate Childrens Hospital. Megy's hearing test showed a mild hearing loss, but that could be influenced by fluid. So she goes back to ENT in 6 weeks to see if there is still fluid, if so she will be having the tubes put in. He said it is common for children with servere reflux and G-Tubes. GI said OK, see you back in 3 months. However her button came out on us (while we were in Arizona) so that was a fiasco, for me anyways. Janet handled it well. I would like to get paid the big bucks to say "see you in 6 weeks!"
Neurology was very informative and scheduled us for several tests. We have an appointment with a Muscular Dystrophy Specialist next week.
Wednesday, March 30, 2005
Megan is doing well with eating. She loves the spoon. Not too fond of the bottle. We had a Physical therapy evaluation on the 25th. Their diagnosis. She needs therapy. (Thanks-Like we didn't already know that. Isn't that why we were there?) So They added her to the wait list! So For her birthday many family members got her developmental toys and she is doing great with them. She has become much more animated and rocking around. Though she's not rolling or sitting yet, I am sure she will catch up soon.
Her 1st birthday was yesterday and yes, we let her have chocolate cake. Ok-Just a lick of the icing, but cute nonetheless. In the next two weeks Megy has GI, neurology and a hearing test so we should have lots of updates.
Monday, March 07, 2005
Todays swallow study went well. Megan did not aspirate on a thick consistancy, so we are allowed to introduce her to the bottle and spoon with those thick types of food. It will be a slow process only an ounce a day to begin. She will still receive her main nurishment via the button for at least 4 more months, but at least we can get her some foods that are high in calories and nutritional value to aid in the reproduction of those mylin cells.
Friday, March 04, 2005
Well, the MRI showed some damage to Megan’s brain probably caused by a series of strokes. She has been diagnosed with tetraplegia Cerebral Palsy. The good news is that the missing cells, myelin, do reproduce until the age of 2 and an infants brain can learn to adjust. However, there is no way to know what long term effects there might be. For now, working with physical, occupational and speech therapy on a weekly basis is what is best. We will update again after she sees the neurologist on April 5. ***** Keep S'myelin *****
Saturday, February 19, 2005
Well we still have the MIC-Key. Next Swallow study is the beginning of March. As of her last appt, she has not grown in 2 months and lost some weight. We are scheduled for a neurology visit to see if there is something else holding her back.Genetics wants us to start some physical thepary because she isn't rolling or sitting yet. Also a hearing test is in here future. Eyes are looking fine and not in need of surgery as of now So no new news, but I will keep you posted.
Monday, November 15, 2004
Megy is doing well. She had her PEG tube taken out and replaced with a MIC-Key, it's a button. Works the same way, but less distracting. Her reflux has gotten much better and her laringomalacia, though still present is getting better as well. We are going to start with a therapist to work he onto feeding by mouth if the next swallow study shows less aspiration. She is a happy, otherwise healthy baby. Her eye follow-ups revealed that she may not need the eye surgeries! :o) We are still praying!
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