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!