I have tried to explain this to Jason without much success and maybe it is something that can never be explained, I don't know.
I have struggled with dealing and thinking of Daniel's condition since before we even knew it had any sort of a name.
I love my son. I love him and his sister more than anything. My life is complete with my family and Daniel is a wonderful little boy. The best, I wouldn't trade him for anything ever!
But there is a feeling I have, a certain sense of loss. It is almost like a person died but someone I never even met. I don't know if this is normal, but it is how I feel. Because of this I am lost.
After learning of his "first" diagnosis, I felt like I was drifting through life temporarily. Like any life-changing event I felt surreal as though I was an observer and not a participator. I don't feel that way anymore, but I still don't feel normal. It is almost like I left that life before and it is never the same. It is not better or worse, just not the same. I am still angry, still sad and still left with many many questions.
Jason and I are different when it comes to this particular point. I need answers. I see things in black and white and always have. He, on the other hand, is able to look beyond and deal with what is and not with abstract of what could be. We compliment each other this way but is one right and the other wrong? How do I move on?
Sunday, March 22, 2009
Thursday, March 12, 2009
Who the hell knows
I heard back from the great doctor out in Chicago today, and I will post his summary below in a minute. First though I would like to just update this blog (it has been a while) to describe how Daniel is doing.
Daniel still does not crawl or walk however, he is quite mobile. He sort of scoots on his butt to wherever he wants to go. While he still doesn't say many words he does know plenty of signs and is learning more of those every day. He is the same happy wonderfully sweet little boy that he has always been. He is becoming a typical 2 year old in some ways which is good and some not so good (for his mother and father). For instance he will not necessarily listen when you say "no" and he does not like to wait for something when he wants it, he wants it now! He also has a tendency to explore everything :-).
We love him dearly and we are so happy that he is in our life and in our family.
Now, onto the doctors summary:
Daniel still does not crawl or walk however, he is quite mobile. He sort of scoots on his butt to wherever he wants to go. While he still doesn't say many words he does know plenty of signs and is learning more of those every day. He is the same happy wonderfully sweet little boy that he has always been. He is becoming a typical 2 year old in some ways which is good and some not so good (for his mother and father). For instance he will not necessarily listen when you say "no" and he does not like to wait for something when he wants it, he wants it now! He also has a tendency to explore everything :-).
We love him dearly and we are so happy that he is in our life and in our family.
Now, onto the doctors summary:
Lara --
The medical records (and video) of Daniel indicate significant developmental problems, and the video shows poorly coordinated movements and stereotyped postures and movements. His face appears mildly flat with prominent cheeks also. The only head size measurement I found in the records was at the 25% when he was younger; more head size measurements would be useful.
His medical records do mention “mild” lissencephaly as you indicated. On my review, his brain scan shows mildly increased fluid over the front, which makes the convolutions appear a bit unusual. But he probably has a normal number of convolutions, so he does not have any type of lissencephaly. This diagnosis was way off base, and I doubt that any of his current physicians will argue with me about this.
His cerebellum, primarily the middle portion known as the “vermis”, is mildly small. While mild, this is definitely abnormal. It very likely accounts for his poor coordination, and partly accounts for his other unusual positions and movements. The reason he is not talking or chewing is less clear. I designate this as “cerebellar vermis hypoplasia” (CVH). An older but very confusing term is the “Dandy-Walker variant”. While concerning of course, had he had almost any type of (true) lissencephaly, he would have been worse.
CVH is a relatively common developmental problem, and occurs by itself and as part of many different syndromes. It probably has many different genetic causes, and the developmental outcome varies across a wide spectrum very nearly normal to severely handicapped. The video shows significant abnormalities in his verbal and motor skills, so is likely to continue having developmental problems when older. Some causes of CVH come out of the blue (only one in the family) while others can affect siblings. I’m not sure for your family.
He should have a good “chromosome microarray” test done. And genetic testing of the “OPHN1” gene, which can be done in our clinical lab in Chicago. His neurology and genetics docs in VA are welcome to email for other ideas. We could include him in our CVH research studies as well. You might try to email me the video, as it was helpful. I think he should probably see a geneticist in VA as well to work on diagnosis further, and I know good ones in Norfolk, Richmond and the DC area. And please track down his head growth curve.
REVIEW. MRI 5/23/2007 at 9 mo on CD shows normal extraaxial space, borderline mild frontal simplified gyral pattern (reduced number of convolutions) but o/w normal gyral pattern, cortex, hippocampus, basal ganglia, thalamus, white matter, 3rd and lateral ventricles and corpus callosum, persistent cavum septi pellucidi et vergae (minor variant), normal brainstem and cerebellar hemispheres, mild but definite cerebellar vermis hypoplasia involving all lobes, and normal posterior fossa size. wbd
Testing included normal transferrin isoforms fjor CDG and, 15q11 methylation studies.
WBDobyns
Wednesday, February 25, 2009
Sibling No-Rivalry
Daniel and his big sister Alison seem to have the most love between a brother and sister. There really exists no sibling rivalry. Largely due in part because Daniel is not a real threat to Alison. Given the fact that he still does not crawl or walk and mostly still observes her playing (though that is quickly changing). He hasn't challenged her and taken toys from her. Which is good and which is not so good. She is quick to take toys from him, but he has not yet gotten to the point of noticing that and pitching a fit about that--yet. She also, doesn't get to experience a baby brother.
I took Alison to gymnastics today and we were early. She saw a girl sitting down at one corner and asked if she could sit next to her. The girl was playing a game with her baby brother, who is 2, where he was running between her at one end and their mother at the other end. Alison really liked this and got into hanging around with this girl and her little brother. At one point she was helping him at the water fountain.
Alison asks questions about Daniel's therapy and can draw pictures of him getting therapy but I wonder how much at this age is really understood about her brother. Daniel is her brother, that is what she knows and that is her reality. Deep down though does she realize that it is totally unfair that he is not running around and chasing her like that little boy was doing to his big sister in gymnastics?
I took Alison to gymnastics today and we were early. She saw a girl sitting down at one corner and asked if she could sit next to her. The girl was playing a game with her baby brother, who is 2, where he was running between her at one end and their mother at the other end. Alison really liked this and got into hanging around with this girl and her little brother. At one point she was helping him at the water fountain.
Alison asks questions about Daniel's therapy and can draw pictures of him getting therapy but I wonder how much at this age is really understood about her brother. Daniel is her brother, that is what she knows and that is her reality. Deep down though does she realize that it is totally unfair that he is not running around and chasing her like that little boy was doing to his big sister in gymnastics?
Wednesday, January 28, 2009
Hey Kids, What Time Is It?
For the past few months, we have been introducing Daniel and ourselves to a new form of communication. We got a sampling of videos from one of his previous therapists and since then we have collected a few of our own.
These videos called Signing Times are extraordinary in helping Daniel communicate. He has learned so many signs and uses some to communicate his needs. Alison has also become very proficient at signing as well and will sometimes be his sign language interpreter. One of the things I love about the videos is that it makes learning sign language extremely easy and fun and Daniel just loves it. Not only that but it is just so encouraging to see him pick it up so quickly.
I love that he knows so many signs and can use them appropriately. It makes me realize once again that for all his delays, he still is a very smart little boy who just takes longer to do things.
Him and his sister-gosh, they will rule the world in their own way someday.
These videos called Signing Times are extraordinary in helping Daniel communicate. He has learned so many signs and uses some to communicate his needs. Alison has also become very proficient at signing as well and will sometimes be his sign language interpreter. One of the things I love about the videos is that it makes learning sign language extremely easy and fun and Daniel just loves it. Not only that but it is just so encouraging to see him pick it up so quickly.
I love that he knows so many signs and can use them appropriately. It makes me realize once again that for all his delays, he still is a very smart little boy who just takes longer to do things.
Him and his sister-gosh, they will rule the world in their own way someday.
Monday, January 5, 2009
New Year, New Questions
A "New Year" to me used to mean promises and hope and new beginning. Did I say used to? I got over that a while ago. Realizing quickly that really the new year was just a change in calendar and what happened the day before was still there the next day even though it was a new year.
Toward the end of last year we finally sent out Daniel's MRI to Dr. Dobyns in Chicago. Dr. Dobyns is a professor and also a researcher on Lissencephaly. He was the guy that we were told over a year ago when we first got the diagnosis that we should contact and ever since his name has come up as the one to contact for further diagnosis. The problem is that to get any sort of recognition from him you have to "donate" $150 towards his research otherwise you will hear back from him typically in about 2+ years. Well, considering the fact that we are in need of an economic stimulus package, we didn't have $150.00 lying around that wasn't designated to something else say food for the kids. Luckily, my parents (Grandma and Papa) generously gave us the money and we sent out the MRI. We heard back from the great doctor in record time even with the holidays and new year and everything, but what we heard makes me want to throw up, makes me want to yell and scream and puts me right back to where I was at the beginning of this blog.
Before I post what he told us I want to explain first why I sent Daniel's MRI to him in the first place. I had no belief that this doctor would end all of Daniel's issues or that this nightmare would be over after the mailbox door was shut. I thought in no way that there would be magic pixie dust sprinkled on the MRI CD. My only wish for sending the MRI along was really to get some further answers. I wanted this doctor to (as he does for a living) further classify Daniel's Lissencephaly so that it could be noted and registered and tucked away somewhere so that someday in the future 5, 10, 15 years from now they will call and say we found the cure, the pill, the antidote..."we are very glad we found you thanks to this documentation, and knowing your precise diagnosis that matches what our treatment cures." Too much to ask, I don't think so? Now, you can see why I go back to the beginning with more questions then answers:
"Best to collect and send some medical summaries, including detailed head growth charts. His brain scan was done at 9 months, an age when it can be difficult to see some details of brain structure based on rapidly changing maturation.
The pattern of convolutions is either normal or perhaps slightly immature for age, but I do not see any type of lissencephaly. A new scan now would probably sort this out. He does have a small cerebellum, particularly the middle portion which is designated “cerebellar vermis hypoplasia” (CVH). My lab works on this group of conditions as well. CVH is associated with a large number of different developmental disorders, some with very good development and others not.
What have you been told, and who are his docs? And where in VA? This is more complicated than just looking at his scan. Where has his head size been tracking?"
WBDobyns
Toward the end of last year we finally sent out Daniel's MRI to Dr. Dobyns in Chicago. Dr. Dobyns is a professor and also a researcher on Lissencephaly. He was the guy that we were told over a year ago when we first got the diagnosis that we should contact and ever since his name has come up as the one to contact for further diagnosis. The problem is that to get any sort of recognition from him you have to "donate" $150 towards his research otherwise you will hear back from him typically in about 2+ years. Well, considering the fact that we are in need of an economic stimulus package, we didn't have $150.00 lying around that wasn't designated to something else say food for the kids. Luckily, my parents (Grandma and Papa) generously gave us the money and we sent out the MRI. We heard back from the great doctor in record time even with the holidays and new year and everything, but what we heard makes me want to throw up, makes me want to yell and scream and puts me right back to where I was at the beginning of this blog.
Before I post what he told us I want to explain first why I sent Daniel's MRI to him in the first place. I had no belief that this doctor would end all of Daniel's issues or that this nightmare would be over after the mailbox door was shut. I thought in no way that there would be magic pixie dust sprinkled on the MRI CD. My only wish for sending the MRI along was really to get some further answers. I wanted this doctor to (as he does for a living) further classify Daniel's Lissencephaly so that it could be noted and registered and tucked away somewhere so that someday in the future 5, 10, 15 years from now they will call and say we found the cure, the pill, the antidote..."we are very glad we found you thanks to this documentation, and knowing your precise diagnosis that matches what our treatment cures." Too much to ask, I don't think so? Now, you can see why I go back to the beginning with more questions then answers:
"Best to collect and send some medical summaries, including detailed head growth charts. His brain scan was done at 9 months, an age when it can be difficult to see some details of brain structure based on rapidly changing maturation.
The pattern of convolutions is either normal or perhaps slightly immature for age, but I do not see any type of lissencephaly. A new scan now would probably sort this out. He does have a small cerebellum, particularly the middle portion which is designated “cerebellar vermis hypoplasia” (CVH). My lab works on this group of conditions as well. CVH is associated with a large number of different developmental disorders, some with very good development and others not.
What have you been told, and who are his docs? And where in VA? This is more complicated than just looking at his scan. Where has his head size been tracking?"
WBDobyns
Saturday, December 27, 2008
Moving Rapidly Towards a New Year
As this year comes to a close, and the new year fast approaches I am amazed by just how quickly time flies and life goes by.
Daniel is sure going strong into the new year. He is making such great strides. Sipping though a straw is getting better and better, eating and chewing is continuing to improve. He is continuing to get strong in his upper and lower body and he just wants to try to do whatever it is that his sister is doing.
The kids are best of friends which is so sweet to see. They love each other like no other brother and sister I have ever seen. It makes Jason and I so very proud of our kids and this wonderful family that we have.
This new year, I am sure, will bring its challenges and its ups and downs as all years past have done. The momentum that we see in Daniel now will no doubt continue, though be tempered with setbacks as well. My only hope is that as a family we will continue to love each other enough to help each other through whatever may stand in our way of moving forward.
Daniel is sure going strong into the new year. He is making such great strides. Sipping though a straw is getting better and better, eating and chewing is continuing to improve. He is continuing to get strong in his upper and lower body and he just wants to try to do whatever it is that his sister is doing.
The kids are best of friends which is so sweet to see. They love each other like no other brother and sister I have ever seen. It makes Jason and I so very proud of our kids and this wonderful family that we have.
This new year, I am sure, will bring its challenges and its ups and downs as all years past have done. The momentum that we see in Daniel now will no doubt continue, though be tempered with setbacks as well. My only hope is that as a family we will continue to love each other enough to help each other through whatever may stand in our way of moving forward.
Friday, December 5, 2008
Ramblings
Lately I have started and stopped several posts in my mind. I have titled them and finished some of them, but really have not been able to actually sit down and put them in the computer.
Finally as I sit here I have an assortment of posts running around and hence the title of this one.
Daniel has recently started the special ed program with the city school. This is a good thing and is the main reason why we moved to the city in the first place. His therapist(s) will be coming weekly, sometimes twice a week and hopefully Daniel's progress thus far will not slow due to the transition.
He is on the verge of so many things. Everyday he demonstrates something new. Small but new and wonderful. He can sip from a straw, he can hold a spoon and help feed himself. He puckers his lips and gives kisses. He points to things and he is learning so many new signs and demonstrates his knowledge everyday.
Daniel is also becoming a typical 2 year old in a not so typical 2 year old body. He is wanting what he wants when he wants it but is getting very frustrated at not being able to communicate his wants. His limits are becoming clear to him and to us.
At this point outsiders could still say it is just his age, his inability to talk and not necessarily his disability, but it is apparent that his disability is ever so present.
Jason said the other night that he is not sad about Daniels disability at all and that he loves Daniel for what he is. That he wouldn't want him any other way and I am in complete agreement except, if it could be another way, I would want it that way.
I find I am still angry, bitter. Not sure at who though. Is it god or something/someone else? I just don't think it is fair. What does the future hold for my sweet boy? Why must he go through this already tough life with an even tougher obstacle? Did I do something to make this happen? Why him? Why can't I be the one to have such an obstacle and he be normal?
I think a lot about the brain now. The brain doesn't get mentioned much in our posts nor does it get mentioned much in our house but it is an ever present force in what happened and can still happen with Daniel. How is it that the brain at such a young age in the developmental stage of the embryo can have such a huge impact on the rest of a persons life? What goes on? How is it's effect changed or can it be changed? There is so little we know about the brain. It is such a huge part of our being that remains so mysterious. One day I hope that there will be more answers than questions. One day I hope I will be less angry at this disease and more able to kick its ass.
Finally as I sit here I have an assortment of posts running around and hence the title of this one.
Daniel has recently started the special ed program with the city school. This is a good thing and is the main reason why we moved to the city in the first place. His therapist(s) will be coming weekly, sometimes twice a week and hopefully Daniel's progress thus far will not slow due to the transition.
He is on the verge of so many things. Everyday he demonstrates something new. Small but new and wonderful. He can sip from a straw, he can hold a spoon and help feed himself. He puckers his lips and gives kisses. He points to things and he is learning so many new signs and demonstrates his knowledge everyday.
Daniel is also becoming a typical 2 year old in a not so typical 2 year old body. He is wanting what he wants when he wants it but is getting very frustrated at not being able to communicate his wants. His limits are becoming clear to him and to us.
At this point outsiders could still say it is just his age, his inability to talk and not necessarily his disability, but it is apparent that his disability is ever so present.
Jason said the other night that he is not sad about Daniels disability at all and that he loves Daniel for what he is. That he wouldn't want him any other way and I am in complete agreement except, if it could be another way, I would want it that way.
I find I am still angry, bitter. Not sure at who though. Is it god or something/someone else? I just don't think it is fair. What does the future hold for my sweet boy? Why must he go through this already tough life with an even tougher obstacle? Did I do something to make this happen? Why him? Why can't I be the one to have such an obstacle and he be normal?
I think a lot about the brain now. The brain doesn't get mentioned much in our posts nor does it get mentioned much in our house but it is an ever present force in what happened and can still happen with Daniel. How is it that the brain at such a young age in the developmental stage of the embryo can have such a huge impact on the rest of a persons life? What goes on? How is it's effect changed or can it be changed? There is so little we know about the brain. It is such a huge part of our being that remains so mysterious. One day I hope that there will be more answers than questions. One day I hope I will be less angry at this disease and more able to kick its ass.
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