MRI results

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!

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!

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)

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

Genetics

Today we saw the geneticist. Logan did great. He was a little upset when we got to the clinic but did great otherwise. I had Kim with to help hold him so I could talk to the doctor. We started off the appointment talking about his history and what tests had been performed. Right off the bat the doctor starting spinning her wheels just looking at Logan thinking about the possible diagnoses. Then the doctor had a member of her team that sat and went through our family tree and discussed family members medical histories. They asked a lot of questions about my niece, Sarah who passed away in 2008 from a suspected neuro degenerative disorder.

After the family history the doctor came back and did a physical exam. She had nothing new to add regarding his physical exam. She asked if anyone had looked into Angelman syndrome. I have looked at this in the past as our neighbor Kayla had mentioned it once.

She said she is going to contact our neurologist to discuss where is he going with the neurotransmitter testing. She is going to also contact the neurologist at Mayo to discuss the mitochondrial tests that were run. She talked to me about how one of the mitochondrial DNA tests showed an abnormality and that this showed up in every single mitochondria tested. She said this is not a normal finding in an abnormal test result (does that make sense?) and that she wanted to find out more from Mayo. I found this interesting as Mayo said their findings were normal. She did discuss a little bit about mitochondria and how they can dysfunction in a couple of ways and that what was seen in his testing was not the normal way of dysfunctioning.

She asked that I get records from my sister about my niece particularly her MRI results. She also wants Logan to have another MRI and more blood work. She is going to wait and have the blood work taken when he is under for his MRI. This will ensure a good sample is taken and put him in less pain. She also wants to wait to have it drawn until the MRI to give her some time to think about what she wants to test. She is going to discuss Logan with her colleagues on Friday when they have their weekly care conference. She did seem a little puzzled by the end of the appointment. I think her initial excitement had diminished as she talked with me further about Logan. She said point blank that we need a diagnosis to know what his life expectancy will be. She said she may not be the one to find a diagnosis but that she is going to do her best. When she said she is going to do her best I could feel and see that she really meant it. She was open and honest and had a plan. That's my kind of doctor! I don't expect miracles, I just expect people that will give it a good shot and not give up until the options are exhausted.

So for now we wait until they call with the MRI appointment and I work on getting my nieces records. I am glad they are taking her history seriously since there are many similarities between her and Logan. I just wish she was still with us so that we could be on the hunt for a diagnosis for the both of them. But I know that she is up in heaven pulling strings for her cousin and cheering him on!

Lumbar Puncture Results

I got a call from the neurologists office the other day. His lumbar puncture (spinal tap) results are back. They said everything was normal other than two neurotransmitters that came back with low levels. The levels are just below the normal range so they didn't want us to be alarmed. They are going to run some more tests on the spinal fluid to see if the results were of significance. Apparently the tests are being run in a lab in Georgia! They are not sure how long it would take. The name of the neurotransmitters are tetrahydrobiopterin and neopterin. Unfortunately it was not the neurologist I spoke to so details are vague. I am pretty used this at this point and can only shake my head. It isn't worth it to me to demand to speak with the neurologist. It just isn't a battle I want to pursue. These results may just be another false lead so for now I will muster up the patience and wait. I have done the notorious google searching regarding these lab tests and I will forever keep researching as we pursue answers but this time I don't feel as determined for answers. We have been down this road enough! In the meantime Logan sees genetics on Monday. Maybe they can shed some light on the results. I am very curious if the geneticist will agree with the path we are on or recommend some other test? We shall see!

Wheelchair Loaner

Today Logan got a wheelchair to test out for the next week. It is a slick ride with great head support. It is so small but is sure heavy! This is the model wheelchair. Gillette will be able to make customized changes to his chair when we get it in the next couple of months. This week we need to test it out and make sure it is what we want and to figure out what needs to be changed to fit him if possible.

He fits in it so well and even fell asleep in it at therapy. We took it for a spin to the park too! It has a mount on it that we are also testing out for the week. The mount has a couple options to put communication devices on including and Ipad.

I was such a proud mama when we got to therapy and saw it for the first time. He fits in it like a glove. It will be so awesome to have something to transport him in that will provide the right support and put him up at a level where we can interact better with him. It will also be great at home to have another seating option and a place for him to have his communication devices.

After the appointment I struggled to get the wheelchair into the trailblazer. I didn't realize how heavy it would be. Joel and I are going to get a little more serious about finding a mini van and the PT and case manager from our school/county suggested a ramp that we can buy to get the chair in and out of the vehicle. As I drove home from therapy I was excited and then quickly my mind began to race thinking of all the adjustments that we need to make to accommodate the new chair. I was in mental overdrive and thankfully my Aunt Michele was available to talk. She brought me down a few notches and helped me realize this is all preliminary and that we have time to get ready.

Tonight we took a walk to the park. He did great. I was smiling the whole time thinking about where a new chair will take us. I have to say I also worry that he is moving farther and farther away from the "normal" child and I worry about how he will be treated by others. I wish I didn't have to worry about awkward glances, pointing fingers, and constant questions about why my child is in a wheelchair. So far it has not been that overwhelming. I see Logan and our family as educators on children with special needs. I am always happy to answer questions about our amazing son. He teaches so many people life lessons without even saying a word.

Lauren was great with the new chair too. She did want to get in it at one point but understood that it was too small for her and that she has her own special chairs that Logan can't sit in. When we went to the park it didn't even phase her that he was in the chair. I love that she is in such a self centered time of her life!!

Update on results

I got a call from the pulmonologists office today. His cultures that were taken from the fluid in his lungs came back growing many organisms. They said if he was ill right now they would treat with antibiotics based on the results but because he is well they will hold off. No reason to give him something he doesn't need. I think we knew his cultures would come back nasty. It is amazing how his body can tolerate and compensate for it all! He is such a fighter. The doctor's office also told me Logan's lumbar puncture results were back and recommended I call his neurologist to get the interpretation of the results. Obviously I didn't push them to tell me since it isn't their specialty! I called the neurologists office and they didn't have the results but would get them from Children's and have the doctor follow up with me Monday as he is not in the office today. I hope I can keep my mind off of it for the weekend. We are pretty used to this stuff.

Logan has had a great week. We now have Kim, Logan's personal care attendant (newest girlfriend) to take care of him. We had to pull him from daycare to keep him away from as much exposure to germs as possible. It was hard to do as we love Debbie and she is truly Logan's second mom! Kim is a great addition to Logan's team!

Otherwise all is well with Logan. We hope to have him out in his wagon this weekend lounging in the yard. He is starting to tolerate the wind. I am going to have to look for a little portable fan for him because he doesn't tolerate the heat very well. If anyone has seen a battery operated fan around give me a holler!

Enjoy the weekend everyone!