A few weeks ago Baby W has his visit with the geneticist. Our new geneticist (although not so new anymore, I guess, since she's been our geneticist for over six months now) is also a specialist in endocrinology, which is one reason our pediatrician wanted Baby W to see her because of his growth issues. She thinks he's a bit young to worry about anything genetic or metabolic, especially since addressing his reflux and aspiration helped him gain enough to get back on the curve (albeit on the bottom line) but because there's a family history of related symptoms that suggest we have some genetic stuff going on, she wants to keep following him and see him in six months.
While we were there, we talked a little bit about Iz since her DNA results finally were transferred over and I told her the pediatrician said to ask her the way the kids (and I) move in ways most people cannot out. She asked me to take my pants off :p She wanted to look at my joints and skin and then took a look at Iz as well.
Apparently it was my turn to get a diagnosis. Ehlers Danos Syndrome Hypermobility Type. She says Iz most likely has it as well but she's a bit young for a formal diagnosis because kids are naturally hypermobile and she likes to wait until they get older. A lot of my joints have stiffened up as I age but they still move in odd ways and I'm prone to dislocation. She gave me lots of info to take with me and read over and man, that list of possible symptoms explains a lot. There doesn't seem to be much one can do about it but its still nice to have a name so the next time a doc says I must not have the symptom I say I do because they can't find a reason for it, I can say, look! its this! Or if they freak out over a symptom that is "normal" for me, I can also say, look! its this! :p
Showing posts with label genetics. Show all posts
Showing posts with label genetics. Show all posts
Saturday, July 16, 2016
Saturday, April 30, 2016
Baby W is slowing gaining some weight :) He went to see GI and they upped his reflux meds and that is really helping him keep his food down. She also referred him to speech therapy to do NMES feeding therapy. He's gone twice so far and the hope is it will help him swallow normally so we don't have to worry about aspiration and thickening his food.
He also went to see nephrology to check out his kidneys and things look good there :) His doctor is trying to rule out things that could cause him to be so small. I think our next major referral is to genetics but that's not for a few months because they are really backed up right now.
He also went to see nephrology to check out his kidneys and things look good there :) His doctor is trying to rule out things that could cause him to be so small. I think our next major referral is to genetics but that's not for a few months because they are really backed up right now.
Wednesday, March 18, 2015
Another day at the neuropsych's office
Today it was Iz's turn to do evaluations--the geneticist had attempted to refer her multiple times during the genetic testing process but oddly enough, the NP department at the Children's Hospital never responded. The private office that did the boys evals (and now therapy) said sometimes the hospital refers younger kids to them so if I wanted, they could do the evals. So we had our intake a few weeks ago and went in today for the actual eval.
Iz really liked her evaluator :) She even talked to her! Answered questions! Played the games! It was great :p You never know what you're going to get with Iz and I'm just so glad she wasn't hiding and refusing to talk. Results meeting in two weeks.
Iz really liked her evaluator :) She even talked to her! Answered questions! Played the games! It was great :p You never know what you're going to get with Iz and I'm just so glad she wasn't hiding and refusing to talk. Results meeting in two weeks.
Sunday, January 11, 2015
Long time no post!
Things have been very calm here :) We've had a few little illnesses but nothing too major and I am feeling hopeful we will have our second winter with no hospitalizations ;)
Izzy's genetics results finally came back--they've identified a couple of mutations (two from me, one from her dad) that are linked to some her heart and neurological problems but there isn't enough information about those particular mutations to say if they are the cause. We know they are involved in things in those areas but they don't know if those mutations might cause problems. But at least we know what the mutations are and future research could prove useful.
My busy little B has joined the ranks of glass-wearers. He is farsighted with a touch of astigmatism so he only needs to wear his glasses for reading. He's so cute putting them on to look at books or play his games :)
Izzy's genetics results finally came back--they've identified a couple of mutations (two from me, one from her dad) that are linked to some her heart and neurological problems but there isn't enough information about those particular mutations to say if they are the cause. We know they are involved in things in those areas but they don't know if those mutations might cause problems. But at least we know what the mutations are and future research could prove useful.
My busy little B has joined the ranks of glass-wearers. He is farsighted with a touch of astigmatism so he only needs to wear his glasses for reading. He's so cute putting them on to look at books or play his games :)
Thursday, May 15, 2014
More diagnoses......
Izzy had another neurology appointment the other day and we were there a very long time :\ There were many things to talk about.
We got the full results of the MRI. It showed two cysts in her brain. The Rathke's Cleft Cyst near the pituitary gland I was told about over the phone and another cyst on her pineal gland. The pineal cyst needs to be watched because if it grows, they will need to remove it since it would prevent fluid from draining out of the brain if it grows. It can also affect sleep so that may possibly be while she isn't the best sleeper. She rarely sleeps through the night.
Her neurologist was able to pull up the results of her endocrine panel and everything looks good so the Rathke's is not affecting her pituitary gland function. yay! We also talked about the myelin sheaths--they are not as developed as they should be but it is possible that, given time, they will catch up. In one year we need to repeat the MRI to check the cysts and the myelination. At that time, they will also need to get a contrast MRI of her pituitary gland.
The MRI also showed a structural abnormality. I forget what it is called but the part of the brain that connects the two hemispheres is too short. Dr. W said that this is often seen in patients with genetic conditions so he's hoping genetics will find something because a diagnosis will guide him in how to continue treating her.
Her 24 hour EEG isn't completely processed but he was able to look through parts of it and get a treatment plan going. One of the reasons we did the original short EEG and MRI was Izzy's falling. She has your normal toddler falls where she trips over things but she also will fall for no apparent reason. Sometimes she will be walking and just fall over or she will be standing or sitting still and fall. When this happens, she also does not put her hands out to stop the fall so she hits her head and face a lot. She also randomly walks into things (walls, doorframes, furniture). While her eyesight is borderline for needing glasses for her age, she can see well enough to not walk into walls, you know? And sometimes its like she "pauses" after a fall or walking into something--she will just be still and staring for ten to thirty seconds before reacting. Her EEG shows that a small portion of her brain misfires. A lot. More than your "average" person with epilepsy. While we did not catch one of her episodes on the EEG, her unusual brain activity coupled with the falling, the pausing, not putting her hands out for those falls, etc tells him that she is having focal seizures. The abnormal brain activity she is having in that part of her brain is known for causing seizures so he believes that the falls where she does not try to catch herself and "pauses" are a seizure. And he thinks when she walks into something she should be able to see, she is seizing--he said in some focal seizures, just one part of the brain shuts down so while she continues walking, the part of the brain that would stop her from walking into a wall has stopped. So she walks into the wall and doesn't react to that until her brain "wakes up". So we started a low dose of an anti-seizure med used for epilepsy. We will up the dose after a week and then give it some time to see if it works or if we need to up the dose again. She will be on it for two years and then they will check to see if we can wean her off or if she needs to stay on it.
Poor kid just can't catch a break :(
We got the full results of the MRI. It showed two cysts in her brain. The Rathke's Cleft Cyst near the pituitary gland I was told about over the phone and another cyst on her pineal gland. The pineal cyst needs to be watched because if it grows, they will need to remove it since it would prevent fluid from draining out of the brain if it grows. It can also affect sleep so that may possibly be while she isn't the best sleeper. She rarely sleeps through the night.
Her neurologist was able to pull up the results of her endocrine panel and everything looks good so the Rathke's is not affecting her pituitary gland function. yay! We also talked about the myelin sheaths--they are not as developed as they should be but it is possible that, given time, they will catch up. In one year we need to repeat the MRI to check the cysts and the myelination. At that time, they will also need to get a contrast MRI of her pituitary gland.
The MRI also showed a structural abnormality. I forget what it is called but the part of the brain that connects the two hemispheres is too short. Dr. W said that this is often seen in patients with genetic conditions so he's hoping genetics will find something because a diagnosis will guide him in how to continue treating her.
Her 24 hour EEG isn't completely processed but he was able to look through parts of it and get a treatment plan going. One of the reasons we did the original short EEG and MRI was Izzy's falling. She has your normal toddler falls where she trips over things but she also will fall for no apparent reason. Sometimes she will be walking and just fall over or she will be standing or sitting still and fall. When this happens, she also does not put her hands out to stop the fall so she hits her head and face a lot. She also randomly walks into things (walls, doorframes, furniture). While her eyesight is borderline for needing glasses for her age, she can see well enough to not walk into walls, you know? And sometimes its like she "pauses" after a fall or walking into something--she will just be still and staring for ten to thirty seconds before reacting. Her EEG shows that a small portion of her brain misfires. A lot. More than your "average" person with epilepsy. While we did not catch one of her episodes on the EEG, her unusual brain activity coupled with the falling, the pausing, not putting her hands out for those falls, etc tells him that she is having focal seizures. The abnormal brain activity she is having in that part of her brain is known for causing seizures so he believes that the falls where she does not try to catch herself and "pauses" are a seizure. And he thinks when she walks into something she should be able to see, she is seizing--he said in some focal seizures, just one part of the brain shuts down so while she continues walking, the part of the brain that would stop her from walking into a wall has stopped. So she walks into the wall and doesn't react to that until her brain "wakes up". So we started a low dose of an anti-seizure med used for epilepsy. We will up the dose after a week and then give it some time to see if it works or if we need to up the dose again. She will be on it for two years and then they will check to see if we can wean her off or if she needs to stay on it.
Poor kid just can't catch a break :(
Thursday, April 17, 2014
Our schedule is getting way too full.....
Its like the floodgates have opened. I spent so long trying to get referrals, trying to find places that could give us some answers, trying to find out the reasons behind why I had this feeling things were "off". And since we switched to this new pediatrician, things have slowly trickled in. We got therapy started for Iz and S for their anxiety, S has been getting special ed services at school to help him with his problem areas, S went to cardiology (where we found out those symptoms chalked up to "FTM worry" all those years ago were actual due to a CHD), we got a referral to genetics for all three kids, a referral to neurology for Iz, we started the evaluation process for B (and kept hitting roadblocks *sigh*). Seems like a lot, eh?
But now? All of that stuff up there was over the course of almost a year. But now we have Iz getting a full genetic workup and the geneticist is referring her to neuropsych to get some evaluations. We discovered a problem neurologically so she's got that 24 hour EEG coming up plus her MRI found that cyst in her brain so she has a pediatrician appointment soon to follow-up on that and decide whether we are going to test her pituitary function. Her Early Intervention coordinator and EI playgroup teacher are moving forward with repeating her evaluations to see if she qualifies for special ed services next year to keep her in the program because of her speech/social/anxiety issues. And she has her ophthalmologist appointment coming up as well. B had his intake appointment with neuropsych and is scheduled for a full evaluation. S is scheduled for an intake appointment with the same neuropsych. I finally found a dentist willing to see all three kids (as soon as they hear heart kid, ADHD/SPD, and autism-like behaviors, the dentist offices are "full" or "not equipped") so those appointments are coming up, too. Plus all of our normal appointments :p The next month is busy busy busy busy busy :p
But now? All of that stuff up there was over the course of almost a year. But now we have Iz getting a full genetic workup and the geneticist is referring her to neuropsych to get some evaluations. We discovered a problem neurologically so she's got that 24 hour EEG coming up plus her MRI found that cyst in her brain so she has a pediatrician appointment soon to follow-up on that and decide whether we are going to test her pituitary function. Her Early Intervention coordinator and EI playgroup teacher are moving forward with repeating her evaluations to see if she qualifies for special ed services next year to keep her in the program because of her speech/social/anxiety issues. And she has her ophthalmologist appointment coming up as well. B had his intake appointment with neuropsych and is scheduled for a full evaluation. S is scheduled for an intake appointment with the same neuropsych. I finally found a dentist willing to see all three kids (as soon as they hear heart kid, ADHD/SPD, and autism-like behaviors, the dentist offices are "full" or "not equipped") so those appointments are coming up, too. Plus all of our normal appointments :p The next month is busy busy busy busy busy :p
Friday, March 28, 2014
She speaks!!
When we went to playgroup on Wednesday, I thought it was going to be a rough day because the first thing Iz did when we arrived was to hide behind me. And then she laid on the floor and covered her eyes (in her mind, no one can see her if she covers her eyes). She did eventually start to play a little but if anyone spoke to her, she would cover her eyes.
She moved over to the play kitchen (one of her favorites) and started to play with me and she didn't leave when other kids came over! She interacted with them a little bit but mostly played by herself but not leaving when they came over is pretty big for her :p
The EI teacher in charge of her playgroup is concerned by her lack of social skills and the big regression we've seen as far as speech and anxiety and is recommending Iz get another full evaluation for services to see if she qualifies to move into the next program to get extra support to help her reach her social/emotional developmental milestones. She's not sure its severe enough to get her into B's program, which is a special education preschool program, but she may qualify to move into their "regular" early childhood education program with extra support. We talked a bit about Iz's unknown neurological issues and the teacher is thinking we should do the evaluations towards the end of the year to give neurology time to do their tests and try to figure out what's going on so we know if the neuro issues could be causing the social/emotional issues (Iz has also started having outbursts than can rival B. This is around the age it started with B so there is some concern that she could have whatever B has--he's got an appointment with a neuropsych coming up so we can try to figure it out! Iz could just me mimicking his behavior but who knows :\). So we'll see what happens.
At one point, all of the students and parents were on one side of the room and Iz led me over to the other side to play with her and she started talking to me--last week, not one word out of her the entire time (hour and a half) so her talking to me while we were in the room was great :) Her favorite little girl came over and Iz talked a little to her as well. She talked a little on and off the rest of the session so that was nice! And she sort of participated in some of the songs/games during circle time :p
Yesterday was speech therapy and she opened up there and spoke to Miss Emily, too! We are apparently on a roll this week :D The first word she said to Emily was an accident, I think. Up to that point, she'd been pointing or grunting or mouthing words with no sound. But a word popped out and it seemed to open the floodgates because a few minutes later, after trying out single words here and there, she was talking up a storm. Emily is impressed with her grammar LOL She may not be able to say the words clearly but she knows how to put them together ;)
Her therapist (who we saw Tuesday) is going to try to come to a speech session so she and Emily (and I) can coordinate to try and get Iz over this anxiety that is keeping her from speaking. She couldn't make it yesterday because she couldn't rearrange her schedule but she's trying to shuffle some things around to make it next week. If she can't, we'll try to move one speech session to a time all of us can do and then go back to our normal time.
We've got several things coming up! In a little less than two weeks we have Iz's MRI, B's neuropsych appointment, Mr. Piper is coming for a week, we have another genetics appointment, and then in a little over a month we have a 24-hour EEG. I was told the EEG was an overnight but when they called to schedule they said nope, full 24-hours. Yikes. Luckily, we were able to schedule it during a time Mr. Piper will be home (not til May, though) because I have to have a second adult there. I wish I had thought to ask some more questions :p Will she be tethered to a machine in her room? Because keeping a toddler in a hospital room is not fun. Or is there some sort of portable machine so she can walk around the hospital and go to the playroom? Guess we'll find out when we get there in May!
She moved over to the play kitchen (one of her favorites) and started to play with me and she didn't leave when other kids came over! She interacted with them a little bit but mostly played by herself but not leaving when they came over is pretty big for her :p
The EI teacher in charge of her playgroup is concerned by her lack of social skills and the big regression we've seen as far as speech and anxiety and is recommending Iz get another full evaluation for services to see if she qualifies to move into the next program to get extra support to help her reach her social/emotional developmental milestones. She's not sure its severe enough to get her into B's program, which is a special education preschool program, but she may qualify to move into their "regular" early childhood education program with extra support. We talked a bit about Iz's unknown neurological issues and the teacher is thinking we should do the evaluations towards the end of the year to give neurology time to do their tests and try to figure out what's going on so we know if the neuro issues could be causing the social/emotional issues (Iz has also started having outbursts than can rival B. This is around the age it started with B so there is some concern that she could have whatever B has--he's got an appointment with a neuropsych coming up so we can try to figure it out! Iz could just me mimicking his behavior but who knows :\). So we'll see what happens.
At one point, all of the students and parents were on one side of the room and Iz led me over to the other side to play with her and she started talking to me--last week, not one word out of her the entire time (hour and a half) so her talking to me while we were in the room was great :) Her favorite little girl came over and Iz talked a little to her as well. She talked a little on and off the rest of the session so that was nice! And she sort of participated in some of the songs/games during circle time :p
Yesterday was speech therapy and she opened up there and spoke to Miss Emily, too! We are apparently on a roll this week :D The first word she said to Emily was an accident, I think. Up to that point, she'd been pointing or grunting or mouthing words with no sound. But a word popped out and it seemed to open the floodgates because a few minutes later, after trying out single words here and there, she was talking up a storm. Emily is impressed with her grammar LOL She may not be able to say the words clearly but she knows how to put them together ;)
Her therapist (who we saw Tuesday) is going to try to come to a speech session so she and Emily (and I) can coordinate to try and get Iz over this anxiety that is keeping her from speaking. She couldn't make it yesterday because she couldn't rearrange her schedule but she's trying to shuffle some things around to make it next week. If she can't, we'll try to move one speech session to a time all of us can do and then go back to our normal time.
We've got several things coming up! In a little less than two weeks we have Iz's MRI, B's neuropsych appointment, Mr. Piper is coming for a week, we have another genetics appointment, and then in a little over a month we have a 24-hour EEG. I was told the EEG was an overnight but when they called to schedule they said nope, full 24-hours. Yikes. Luckily, we were able to schedule it during a time Mr. Piper will be home (not til May, though) because I have to have a second adult there. I wish I had thought to ask some more questions :p Will she be tethered to a machine in her room? Because keeping a toddler in a hospital room is not fun. Or is there some sort of portable machine so she can walk around the hospital and go to the playroom? Guess we'll find out when we get there in May!
Wednesday, February 19, 2014
We went to see genetics yesterday. The dr didn't see anything that jumped out to him that indicates any specific syndrome or set of genes but because all three kids have similar issues and I have a few of the same things, he is thinking that there is most likely something going on genetically. He ordered a microarray to take a "quick look" at our DNA and see if it turns up any deletions or repetitions that might point us in the right direction for further testing. We should get a call in 2-3 weeks to set up the next appointment to get results and decide the next step
Tuesday, December 17, 2013
Anyone been sent to genetics?
What can we expect? I've googled (honestly, I google everything...) but sometimes you just like to hear first person accounts :p Tell me your story, link me to your posts, whatever you feel up to--I would appreciate it!
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