MRI results are in....drum roll please...normal!!!! This is very good news. Yes, it still does not provide answers, but a normal brain is always a good thing to hear. The geneticist did mention that he has some atrophy and that is from lack of use. This is due to whatever is causing his developmental delay which is preventing him from using all parts of his brain.
We will wait about 4-6 weeks for the other lab tests (chromosomes). He did have a lactate level drawn while under sedation and they checked his lactate level in his brain and all was normal. The doctor said that now this rules out a problem related to lactic acidosis.
I did mention the letter I received from Mayo clinic. She said that it is "leaps and bounds past where I am". Sounds like she really thinks we should rule out some other things first such as a chromosomal abnormality. Sounds good to me but still leaves questions in my head about what the Mayo results really meant. I think I am going to buck up and call Mayo this week and see if the doctor can better explain her letter. I am wondering how significant the letter was on the scale of what we are testing. Maybe I am reading into it too much. We will see. As always I will keep you posted.
We are taking the kids up to the lake cabin this weekend so hopefully we will have some great pics of Logan in the water! He went in the water last year and did really well. Thanks again for all the support!
Monday, June 25, 2012
Sunday, June 24, 2012
Follow up on Logan's MRI
Hello all, I am a little delayed with my update on Logan's MRI this past Friday. We had a fun weekend with Nana so everything else went by the wayside!!!
Logan did great. This time I took Logan into the room where they were going to administer the anesthesia. I got to see them put the mask on with the "gas" and make him nice and sleepy! In the past I haven't liked to go into those rooms because seeing all the equipment worries me as I know what it is all for! I wanted him to know that we weren't abandoning him so it was a nice feeling to take him into the room and be there when he went to sleep.
The anesthesiologist was so nice. She explained everything and really took into account our knowledge as his parents. Afterwards they asked me to come to the recovery room to help them determine if he was ready to go to post op. Normally we wait and when they have recovered him enough they bring him into a room where we can be with him until we are discharged. The nurse wanted me to see him so I could let her know if he was at baseline or not. She seemed a little nervous. I walked into the room and saw him and he looked great. I told her that he sounded great and that he had less secretions than normal. The previous procedure took longer to recover from so I was a little worried, but he popped right out of it. We were only in post op 45 minutes before we were discharged. He looked so good there was no reason to stay. The nurse was a little nervous discharging him so soon so she checked in with the anesthesiologist before we left.
Now we wait and see. They drew quite a few lab tests while we were at the hospital. Apparently it was a big to do. I had to fill out a slip for the genetic testing being sent to Mayo clinic. The nurses checked multiple times with the lab to make sure they had the right blood tubes and even the anesthesiologist had to check in with them as she was the one drawing the blood. One of the operating room nurses called on Saturday to check in and see how Logan was and she said the genetics clinic even called that morning to make sure the right tests were being drawn!! I am so glad to know that so many people are making sure that mistakes are being prevented. The last thing anyone wants to do is tell a parent, "oh by the way, we missed a test so we have to poke your kid again".
I am sure I will hear news regarding the MRI result this week. I did receive a letter from the genetics clinic. It outlines the plan of action. The geneticist spoke with both Logan's neurologist and the Mayo clinic neurologist. The plan is to see what the MRI shows, check his chromosomes (this was sent out), review Logan's cousins records, consider testing him for cerebellar spinal ataxia (this one is out of left field???) and if all are normal to have Logan seen back at Mayo for further evaluation. So as usual I will keep you all posted on our progress!
Logan did great. This time I took Logan into the room where they were going to administer the anesthesia. I got to see them put the mask on with the "gas" and make him nice and sleepy! In the past I haven't liked to go into those rooms because seeing all the equipment worries me as I know what it is all for! I wanted him to know that we weren't abandoning him so it was a nice feeling to take him into the room and be there when he went to sleep.
The anesthesiologist was so nice. She explained everything and really took into account our knowledge as his parents. Afterwards they asked me to come to the recovery room to help them determine if he was ready to go to post op. Normally we wait and when they have recovered him enough they bring him into a room where we can be with him until we are discharged. The nurse wanted me to see him so I could let her know if he was at baseline or not. She seemed a little nervous. I walked into the room and saw him and he looked great. I told her that he sounded great and that he had less secretions than normal. The previous procedure took longer to recover from so I was a little worried, but he popped right out of it. We were only in post op 45 minutes before we were discharged. He looked so good there was no reason to stay. The nurse was a little nervous discharging him so soon so she checked in with the anesthesiologist before we left.
Now we wait and see. They drew quite a few lab tests while we were at the hospital. Apparently it was a big to do. I had to fill out a slip for the genetic testing being sent to Mayo clinic. The nurses checked multiple times with the lab to make sure they had the right blood tubes and even the anesthesiologist had to check in with them as she was the one drawing the blood. One of the operating room nurses called on Saturday to check in and see how Logan was and she said the genetics clinic even called that morning to make sure the right tests were being drawn!! I am so glad to know that so many people are making sure that mistakes are being prevented. The last thing anyone wants to do is tell a parent, "oh by the way, we missed a test so we have to poke your kid again".
I am sure I will hear news regarding the MRI result this week. I did receive a letter from the genetics clinic. It outlines the plan of action. The geneticist spoke with both Logan's neurologist and the Mayo clinic neurologist. The plan is to see what the MRI shows, check his chromosomes (this was sent out), review Logan's cousins records, consider testing him for cerebellar spinal ataxia (this one is out of left field???) and if all are normal to have Logan seen back at Mayo for further evaluation. So as usual I will keep you all posted on our progress!
Tuesday, June 19, 2012
Mayo Letter
To my surprise, a letter came from the Mayo Clinic last Saturday. Thankfully I have some medical knowledge otherwise it would have looked like a foreign language. Basically there were some findings from his skin fibroblast test that are concerning for a mitochondrial disorder. Our geneticist called the Mayo Clinic Neurologist last week and then this letter came. The Mayo doctor said that she spoke with our geneticist and learned that Logan has had significant changes in his health since she last saw Logan in August 2011.
There is a genetic mutation that was found in Logan's mitochondrial DNA. The letter discussed the possibility of this being passed through my genes or a pathological mistake. I can have genetic testing done to find out if I have the mutation as well. If I have the same amount of mitochondrial DNA with problems and I am asymptomatic then they would most likely rule it out as being the cause of Logan's problems. If I have a smaller degree of it then it may be the cause.
The second finding was related to polymorphisms. I have no idea what this means!! If someone gets this please let me know! Apparently he has more than the normal amount of polymorphisms in his mitochondrial DNA which could also explain his problems. There is a gene that could account this problem and the letter says that there could be other genes that are implicated. Baylor College (where his testing has been done) has a test that can look at a dozen or so genes. In the fall, there will be another test capable of analyzing over 400 genes involved in mitochondrial function.
So at this point the plan is for Logan to have an MRI on Friday and Mayo has asked our geneticist to add on MR spectroscopy that will look at chemical levels in his brain, more specifically his lactate level. They are also going to draw some lab tests and do a more detailed analysis of his chromosomes. The MRI is specifically going to look at changes in his brain. The letter states that if the chromosome testing is negative, she would suggest further testing of his genes.
Readers, are you reeling like me! In March I received a call from Mayo stating the results were normal and did not get any calls back when I pursued talking to the physician. Now, it is June and we hear that the results are not normal. Logan has had some significant changes in his medical condition since he was seen last August which the Mayo physician did not know. I know that results also have to be compared to the clinical presentation of a patient and maybe his presentation did not match up with the results she was seeing and therefore did not find them significant. I am just reaching for a reason at this point. It does not excuse the lack of communication.
How unfortunate that we had to wait three months to find out what really came of his skin fibroblast testing and that it came in a letter. I am upset and frustrated right now. I am also very scared and I know Joel is nervous too. We have been waiting for answers and now that we have some nuggets of information to go on, the worry of what we will be told is front and center. I have been trying to prepare myself for the worst and we have always known that the chance for a cure is slim to none. Now the worry is what we will be told related to his life expectancy. Sometimes it is easy to go blindly day to day. Answers will pose more questions and more uncertainty. This path we are on is a roller coaster. I just have to remind myself every day to cherish the here and now. You never know what tomorrow will bring.
I will keep you all posted on how he does on Friday. Logan is so strong and resilient!
If anyone is interested in some good reads related to parenting a special needs child check out these books I have read:
Expecting Adam by Martha Beck
The Boy in the Moon: A Father's Search for His Disabled Son by Ian Brown
Fragile Innocence: A Father's Memoir of His Daughter's Courageous Journey by James Reston Jr.
(I am reading this one right now)
There is a genetic mutation that was found in Logan's mitochondrial DNA. The letter discussed the possibility of this being passed through my genes or a pathological mistake. I can have genetic testing done to find out if I have the mutation as well. If I have the same amount of mitochondrial DNA with problems and I am asymptomatic then they would most likely rule it out as being the cause of Logan's problems. If I have a smaller degree of it then it may be the cause.
The second finding was related to polymorphisms. I have no idea what this means!! If someone gets this please let me know! Apparently he has more than the normal amount of polymorphisms in his mitochondrial DNA which could also explain his problems. There is a gene that could account this problem and the letter says that there could be other genes that are implicated. Baylor College (where his testing has been done) has a test that can look at a dozen or so genes. In the fall, there will be another test capable of analyzing over 400 genes involved in mitochondrial function.
So at this point the plan is for Logan to have an MRI on Friday and Mayo has asked our geneticist to add on MR spectroscopy that will look at chemical levels in his brain, more specifically his lactate level. They are also going to draw some lab tests and do a more detailed analysis of his chromosomes. The MRI is specifically going to look at changes in his brain. The letter states that if the chromosome testing is negative, she would suggest further testing of his genes.
Readers, are you reeling like me! In March I received a call from Mayo stating the results were normal and did not get any calls back when I pursued talking to the physician. Now, it is June and we hear that the results are not normal. Logan has had some significant changes in his medical condition since he was seen last August which the Mayo physician did not know. I know that results also have to be compared to the clinical presentation of a patient and maybe his presentation did not match up with the results she was seeing and therefore did not find them significant. I am just reaching for a reason at this point. It does not excuse the lack of communication.
How unfortunate that we had to wait three months to find out what really came of his skin fibroblast testing and that it came in a letter. I am upset and frustrated right now. I am also very scared and I know Joel is nervous too. We have been waiting for answers and now that we have some nuggets of information to go on, the worry of what we will be told is front and center. I have been trying to prepare myself for the worst and we have always known that the chance for a cure is slim to none. Now the worry is what we will be told related to his life expectancy. Sometimes it is easy to go blindly day to day. Answers will pose more questions and more uncertainty. This path we are on is a roller coaster. I just have to remind myself every day to cherish the here and now. You never know what tomorrow will bring.
I will keep you all posted on how he does on Friday. Logan is so strong and resilient!
If anyone is interested in some good reads related to parenting a special needs child check out these books I have read:
Expecting Adam by Martha Beck
The Boy in the Moon: A Father's Search for His Disabled Son by Ian Brown
Fragile Innocence: A Father's Memoir of His Daughter's Courageous Journey by James Reston Jr.
(I am reading this one right now)
Thursday, June 14, 2012
MRI
Logan has another MRI schedule next Friday June 22nd. He will also have lab work drawn at that time in an attempt to find a diagnosis. Please send prayers his way that day as he will be sedated for the scan. We hope this round of tests can give us some answers.
On a happy note, Logan will have nurses start taking care of him in July along with Kim our PCA who will be with us until the end of the summer. What am I going to do with all the extra time?? Maybe I will finally have a clean house and get some long overdue projects done!
We picked a color for his wheelchair today -- silver. Joel said no to the bright green saying "that is Packer colors"! His plan is to deck it out with stickers. I can only imagine the sports stickers that will start coming out of the woodwork to decorate his wheelchair with!
We had a busy week with lots of visits to the home. We had the dietician, home health care company, medical supply company, and the budget writer all come out to visit. Our dog Molly was anxious as can be with all the new faces. It didn't faze Logan or Lauren. Today Lauren is sick. Fever all day. This morning she said, "mommy, my bones hurt". I couldn't figure out the source until finally tonight she ate a cheese stick and out it came. Why do kids stand in front of a toilet and proceed to vomit on the floor in front of it?? Hopefully Logan doesn't come down with it. At least if he catches a GI bug we can deal with it considering he has a constantly empty stomach other than meds.
Lastly, I want to thank all of Logan's supporters! I can't believe the response I have gotten from writing this blog. It has been a seamless way to communicate Logan updates to Team Logan! You guys are the best and I mean it!!
Rachel
On a happy note, Logan will have nurses start taking care of him in July along with Kim our PCA who will be with us until the end of the summer. What am I going to do with all the extra time?? Maybe I will finally have a clean house and get some long overdue projects done!
We picked a color for his wheelchair today -- silver. Joel said no to the bright green saying "that is Packer colors"! His plan is to deck it out with stickers. I can only imagine the sports stickers that will start coming out of the woodwork to decorate his wheelchair with!
We had a busy week with lots of visits to the home. We had the dietician, home health care company, medical supply company, and the budget writer all come out to visit. Our dog Molly was anxious as can be with all the new faces. It didn't faze Logan or Lauren. Today Lauren is sick. Fever all day. This morning she said, "mommy, my bones hurt". I couldn't figure out the source until finally tonight she ate a cheese stick and out it came. Why do kids stand in front of a toilet and proceed to vomit on the floor in front of it?? Hopefully Logan doesn't come down with it. At least if he catches a GI bug we can deal with it considering he has a constantly empty stomach other than meds.
Lastly, I want to thank all of Logan's supporters! I can't believe the response I have gotten from writing this blog. It has been a seamless way to communicate Logan updates to Team Logan! You guys are the best and I mean it!!
Rachel
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