Hmmmm... It's been a year. I have been so bad at this. Well, we are doing good. We have had a lot of changes in the last year. Our family has changed so much! Evan is now a proud big brother to his little sister Alli (4 months old), and is doing really good most days. We still have our difficult days and new challenges arrise on a day to day, week to week basis. We skipped the conference this year with all the changes in our life, and our much larger family size, it just didn't work to go this year. I was thinking it'd be good to go as a family next year, but now I was told that it won't be covered as a reimbursement next year... so we might not be able to afford it. I really missed being able to see all the wonderful families I met last summer, I'll have to get better about emailing and chating with them all... to keep in touch. It gets so busy and crazy sometimes. The conference would be very beneficial to us all though. It's tough sometimes, and when you add a stepdad and stepsiblings to the mix, it shakes it up a bit.
Well lets see, I'll try to recap Evan's growth in the last year... He is potty trained finally. We don't take Miralax all the time because that seemed take it to the opposite extreme. He always goes a ton, but its not so bad if we make him sit on the potty and have a BM go at least 1 x every day. He has had accidents, a couple in the last couple of weeks. It gets frustrating, but we deal with it.
He has an orange cast. He broke his arm (actually, his wrist) while playing at the neighbors house a couple of weeks ago. He is doing well with it, although we have to remind him not to use it as a toy or weapon. He seems to think it's fun to hit things with it. He still uses his fingers to write and uses it for most things.
He went to San Antonio with grandma to be involved in a Chromosome 18 research study this past August. It was a really good opportunity and I'm very thankful that he was able to go. They did some testing with growth hormome, so I'm anxious to see the results of that.
He just started Kindergarten, and so far, so good. We have his IEP meeting in October, so I should get an update on how things are really going, from his therapists and teachers and aides, so that should be a bit more informative. So far I have his teacher on email, so we keep each other posted on dr apts. and daily updates.
We've been having some behavior stuff again, tantrums and outbursts... and not always listening... so we are having going to see someone at Southeast next week for some help with that. And there is a support group for Family Voices parents starting in Oct that Joe and I are going to attend. That should be helpful! It seems like we take steps forward and steps back, sometimes when we think we are past someting... then we see backtracking, when we had already seen progress. I don't know, it's very frustrating.
We have respite care now, so at least we can get some time to take a break, when things get to be just too much. It has been very, very helpful!!
That's all for now... but I'll have to write more later... it's been a long and busy year.
Saturday, September 19, 2009
Wednesday, August 13, 2008
Test and Dr Update
We survived the sleep deprived tests and after a trying day at the hospital on Friday, were able to check out of the hospital at about 3 in the afternoon (we had been there since 7). Evan is definately a fighter. He did not want to let the nurse weigh him or check his height, bp, and oxygen level, and it just got more difficult (which meant we had to be very creative about convincing him to let us do everything). One nurse convinced him that he got to wear a cool yellow hat like on Curious George, he didn't completely buy it, but it did help for the EEG. He was given laughing gas for the EEG and then was sedated for the MRI and EKG. It was kind of a scary day, but everything turned out fine. He had an eye dr appt yesterday and everything is normal there, we just have to have him checked again in a year. He had to have 3 sets of drops and he was not too happy, but otherwise it went well. Hope all is going well with everyone this week. I'm feeling a little bit exhausted. I could use a vacation... lol.
Thursday, August 7, 2008
EEG, MRI, and EKG tomorrow morning
I've been on the phone with at least 3-4 different nurses from Meritcare today... just preparing for Evan's tests tomorrow. So, he can't have chocolate or caffeine today, and he can't eat after midnight tonight. The EEG test is a sleep deprived test, so I need to keep him awake all night, if possible. Not sure how this is gonna work. I guess I'm gonna be sleep deprived too... lol. If he does fall asleap and I can't keep him awake, I need to wake him up at 4 am and then keep him up until we go into the hospital at 7. He will be sedated for the tests. I tried to nap this afternoon, but I'm kind of tired, so I'm not sure how I'll stay awake to keep him awake all night. Well, wish us luck... we should be all done at noon and then maybe spend the rest of the afternoon napping... who knows. I might need some creative ideas on how to keep him up...
Thursday, July 31, 2008
Gastroenterologist
We met with a doctor last week to discuss Evans constipation and potty training issues. He did some blood tests and determined that Evan does not have celiac disease. We also had bloodwork sent to San Antonio for the reasearch study. I received the box of supplies the morning of Evans apt. and I took it with to the apt on the chance that they would do all the bloodwork at the same time.
I really liked this dr too. He was very helpful. He explained that it may take a while for potty training and that part of it may be fear after the fissure and rectal prolapse episode and that a second factor is the low muscle tone, which makes it hard to go also. I learned from other parents at the conference in July that it is common for 18q- kids to have constipation issues, and they also have low tone, so this connection makes sense.
Our plan is to give Evan Miralax every day, and I need to keep a diary of the dose and the time and then keep track of his BMs. I have started this, but it's hard to keep the same routine every day. I will need to adjust it as needed also. We started giving the Miralax between 3 and 4, so that he will have a BM right after supper. It doesn't seem to take that long to work though, so I will have to see which time is going to work the best. We are then going to reward his BMs in his pull up and then eventually double reward him for going in the potty after supper.. and hopefully we will have an exact time by then, so it will be a routine. We eat and then go potty.
This is kind of confusing and will take some getting used to and some figuring out, but I'm glad that I now have a plan that will hopefully work for Evan. It's good to know that there is a plan and that eventually we'll have this potty training done with once and for all.
I really liked this dr too. He was very helpful. He explained that it may take a while for potty training and that part of it may be fear after the fissure and rectal prolapse episode and that a second factor is the low muscle tone, which makes it hard to go also. I learned from other parents at the conference in July that it is common for 18q- kids to have constipation issues, and they also have low tone, so this connection makes sense.
Our plan is to give Evan Miralax every day, and I need to keep a diary of the dose and the time and then keep track of his BMs. I have started this, but it's hard to keep the same routine every day. I will need to adjust it as needed also. We started giving the Miralax between 3 and 4, so that he will have a BM right after supper. It doesn't seem to take that long to work though, so I will have to see which time is going to work the best. We are then going to reward his BMs in his pull up and then eventually double reward him for going in the potty after supper.. and hopefully we will have an exact time by then, so it will be a routine. We eat and then go potty.
This is kind of confusing and will take some getting used to and some figuring out, but I'm glad that I now have a plan that will hopefully work for Evan. It's good to know that there is a plan and that eventually we'll have this potty training done with once and for all.
Results of genetic tests
We finally received some test results. I had called the Childrens Hospital to inquire about the test results that we were supposed to hear back on in Feb/Mar and it took forever to get through and for them to get back to me. They said they had sent me a letter and everything would be going through Fargo now, so we won't be following up with them at Childrens Hospital anymore. I waited and waited for a letter. Didn't get one. I talked to Evans pediatrician and she said that she got a letter that did nothing more than confirm that he had chromosome 18 deletion, which we already knew. She said to ask her if I wanted a copy of the letter. I decided to get a copy and called and talked to her nurse, her nurse put me through to med records and they wouldn't give me a copy... said I had to go back to childrens to get a copy. I eventually emailed the pediatrcian and she sent me a copy of the letter and the results from Childrens right before I left for my trip.
So when I was on my trip, I read through Evans records a few times and found out some interesting information. First off, there was a basic genetic test done when Evan was first seen in the genetics clinic, before he was 1 . . Interestingly enough noone told us, not sure when they did the blood test, unless they snuck the test in when he had blood drawn for something else or when he was there for his circumcision re-do surgery or something. I remember distinctly that at that time the geneticist and ENT dr both made such a point of saying how they didn't think tests were necessary because Evan was just too cute. Seriously, they didn't look at all the other signs. One of my friends told me that if there are 4 things noted, genetic testing should be routine. Evan definately had at least 4 things at the time; stenotic ear canals, hearing loss, low muscle tone, dev delay, no growth on chart between milestone visits, not being able to sit up until after 9 months, not being able to walk until almost 2.
Well the original test results showed that all was normal, but that test didnt check for deletions, it only checked to see that all chromosomes were present or something like that. Reading the cytogentetics report, it looks like they only took a small sample from 18q21 to test and didn't test anything else.
When I read through the results from last June, that they told me were not detailed enough, I found some disticnt information... although the results from November are much more informative. Still they have all the info I need, I just don't know what it means until I can actaully talk to a genetic dr about it. I am waiting to get the referrel for the genetic dr from Grand Forks who travels to Fargo, but haven't heard about that yet. So anyway, his test results reveal a "copy loss in 18q22.3->q23". I'll report back when I find out what exactly that means, it does account for his stenotic ear canals... which is the reason the radiologist back in 2004 recomended genetic testing.
There is more info in these results, but I just don't know how to read it, how to make make sense of it, or what it means. The blood clotting tests that revealed von willebrands disorder was first entered into the charts as normal and then later corrected as abnormal and it was noted that it was a typo. Hmmm... gives me a lot of confidence in minneapolis children's hospital.
Each of these tests results were documented within a couple weeks, but we were not informed for multiple months... and even then, they didn't really say anything. Its like they would rather not talk to me because they didn't know what to say. You would think that specialists would be able to at least give me more explanations about how it all works, instead of avoiding me. At least now we are on the right track. I just find it interesting that now I feel like I know and understand some of this more than some of the doctors do.
I learned a lot from the conference and have notes to go through, so I'll try to post some of the suggestions here too. One of the things on my list is to see a endocronologist and test Evan for growth hormone deficiency.
At the conference, I also enrolled Evan in a research study. If we qualify for any of their on site resarch studies, they will fly us out to San Antonio for a week. That would be very neat, and very interesting. The doctors there are very informed on chromosome 18 and through the research are going to be able to make more information available to parents and doctors in the future.
I'm feeling much better, and know much more, but still have a long way to go with learning and figuring things out. At least, it is all coming together.
So when I was on my trip, I read through Evans records a few times and found out some interesting information. First off, there was a basic genetic test done when Evan was first seen in the genetics clinic, before he was 1 . . Interestingly enough noone told us, not sure when they did the blood test, unless they snuck the test in when he had blood drawn for something else or when he was there for his circumcision re-do surgery or something. I remember distinctly that at that time the geneticist and ENT dr both made such a point of saying how they didn't think tests were necessary because Evan was just too cute. Seriously, they didn't look at all the other signs. One of my friends told me that if there are 4 things noted, genetic testing should be routine. Evan definately had at least 4 things at the time; stenotic ear canals, hearing loss, low muscle tone, dev delay, no growth on chart between milestone visits, not being able to sit up until after 9 months, not being able to walk until almost 2.
Well the original test results showed that all was normal, but that test didnt check for deletions, it only checked to see that all chromosomes were present or something like that. Reading the cytogentetics report, it looks like they only took a small sample from 18q21 to test and didn't test anything else.
When I read through the results from last June, that they told me were not detailed enough, I found some disticnt information... although the results from November are much more informative. Still they have all the info I need, I just don't know what it means until I can actaully talk to a genetic dr about it. I am waiting to get the referrel for the genetic dr from Grand Forks who travels to Fargo, but haven't heard about that yet. So anyway, his test results reveal a "copy loss in 18q22.3->q23". I'll report back when I find out what exactly that means, it does account for his stenotic ear canals... which is the reason the radiologist back in 2004 recomended genetic testing.
There is more info in these results, but I just don't know how to read it, how to make make sense of it, or what it means. The blood clotting tests that revealed von willebrands disorder was first entered into the charts as normal and then later corrected as abnormal and it was noted that it was a typo. Hmmm... gives me a lot of confidence in minneapolis children's hospital.
Each of these tests results were documented within a couple weeks, but we were not informed for multiple months... and even then, they didn't really say anything. Its like they would rather not talk to me because they didn't know what to say. You would think that specialists would be able to at least give me more explanations about how it all works, instead of avoiding me. At least now we are on the right track. I just find it interesting that now I feel like I know and understand some of this more than some of the doctors do.
I learned a lot from the conference and have notes to go through, so I'll try to post some of the suggestions here too. One of the things on my list is to see a endocronologist and test Evan for growth hormone deficiency.
At the conference, I also enrolled Evan in a research study. If we qualify for any of their on site resarch studies, they will fly us out to San Antonio for a week. That would be very neat, and very interesting. The doctors there are very informed on chromosome 18 and through the research are going to be able to make more information available to parents and doctors in the future.
I'm feeling much better, and know much more, but still have a long way to go with learning and figuring things out. At least, it is all coming together.
July update
I have really had a crazy, busy month. I am so glad that I joined the Chromosome Registry at www.chromosome 18.org in and got Evan involved in DD Case Managment services through Southeast Human Services. I went to the Chromosome 18 conference in Texas at the beginning of July and met a ton of amazing people. It is so great to not feel so alone in all this! At the conference I found out so much information and have a longer list of all the doctors to see and/or therapies to try.
I finally have a handle on my home life, and can take a step back when I need to.
Evan is really doing well. I can understand him more, and he is more expressive. Of course, he still has his tantrums and he has his high energy and we definately have difficult days or difficult moments... but I am also much more patient and much more able to navigate through these now.
Jordan is really restless sometimes. He really needs an outlet for his excess energy and needs to have an outlet for his emotions and frustrations too. I've been trying to find him a sibling support group, but haven't had much luck with finding a local group.
Evan just had a neurology apt and now we have him scheduled for a sedated EEG and MRI yesterday. The neurologist said that shes not sure his seizures were fibrile, because they only say that if there is nothing else wrong with the child... i.e. no dev delays, no chromosome abnormailities, etc... This was a good apt. The neurologist this time was very helpful and perceptive, after the test, we will follow up with her in Sept. and see where it goes from there. I need to be careful when making these apts too close together, because each of these appointments can be mentally and emotionally exhausting and draining.
Evan will be starting Headstart in August, and will be doing PT, OT, and Speech at home in addition to at school. His latest fear is the wind, hopefully we can solve this and move on the the next fixation, lol.
Jordan is going into 3rd grade in August. He will be gettting some speech therapy in school also. Hopefully we'll figure out his attention and excess energy issues... I've thought he's had ADHD since he was 4, but haven't been able to prove that to his teachers... even when they see it, they dismiss it sometimes... I guess it really depends on the teacher. Sometimes he doesn't even remember, and I don't think he ALWAYS acts like that on purpose.
Having 2 strong willed, high enery kids is tough... but its my life, it's what God gave me, and I manage just fine..
I finally have a handle on my home life, and can take a step back when I need to.
Evan is really doing well. I can understand him more, and he is more expressive. Of course, he still has his tantrums and he has his high energy and we definately have difficult days or difficult moments... but I am also much more patient and much more able to navigate through these now.
Jordan is really restless sometimes. He really needs an outlet for his excess energy and needs to have an outlet for his emotions and frustrations too. I've been trying to find him a sibling support group, but haven't had much luck with finding a local group.
Evan just had a neurology apt and now we have him scheduled for a sedated EEG and MRI yesterday. The neurologist said that shes not sure his seizures were fibrile, because they only say that if there is nothing else wrong with the child... i.e. no dev delays, no chromosome abnormailities, etc... This was a good apt. The neurologist this time was very helpful and perceptive, after the test, we will follow up with her in Sept. and see where it goes from there. I need to be careful when making these apts too close together, because each of these appointments can be mentally and emotionally exhausting and draining.
Evan will be starting Headstart in August, and will be doing PT, OT, and Speech at home in addition to at school. His latest fear is the wind, hopefully we can solve this and move on the the next fixation, lol.
Jordan is going into 3rd grade in August. He will be gettting some speech therapy in school also. Hopefully we'll figure out his attention and excess energy issues... I've thought he's had ADHD since he was 4, but haven't been able to prove that to his teachers... even when they see it, they dismiss it sometimes... I guess it really depends on the teacher. Sometimes he doesn't even remember, and I don't think he ALWAYS acts like that on purpose.
Having 2 strong willed, high enery kids is tough... but its my life, it's what God gave me, and I manage just fine..
Monday, June 2, 2008
Good news update
Ok, so I have been a very bad blogger. It's been since January. I was just waiting for winter to be finally over, so now I should be blogging more again. I have good news. Evan is doing good. He surprises me more and more every day. There are still challenges, but now I have more of a network of support. I joined the chromosome 18 registry and research society and I also joined the 18q- listserve. Evan was approved for help through Southeast Human Services and now has a DD (Developmental Dissabilities) case manager, who has been very helpful. I can't thank him enough for his help. I'm planning to go to the Chromosome 18 conference in July, and I might get to meet another local family in Fargo... whose child also has Chromosome 18. I was feeling so overwhelmed by everything during the fall/winter months... but my prayers have been answered and everything is all coming together. Thank you to all my family and friends who have been there and who have prayed for us during all this.
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