Genetics Results

Wow, I have been a little behind in my blogging! We went to the cabin for 4th of July, came back and I hit the ground running. Logan has a new nurse named Bonnie. She will work with him four days a week. We are so blessed to have her. We have had a few appointments as well. The ususal therapy, school visits, MD appointments, etc. Logan has been mostly healthy other than a blip on the radar last weekend. Some congestion that he then happily passed to his dad! So far Lauren and I have fared well and stayed away from the bug but you just never know when it will creep up.

Logan has had some problems with keeping his oxygen saturation up at night. He tends to drop multiple times a night sending me bolt right out of bed and scooting into his room as fast as I can. The alarm is really loud! We have put him on his oxygen a few times and the other times I have been able to reposition him to improve his breathing. It amazes me when I watch him during these episodes. For some reason he just continues to breathe through all the crud in his airway despite the fact that it is impeding on his oxygenation. He has no interest in coughing or waking up and instead just continues about his sleep as though nothing is going on. I on the otherhand sit there and fret trying to figure out if I should bite the bullet and deep suction him, wake him up, give him a nebulizer treatment, or put on the oxygen. All the while being half asleep myself. It is such a mind game. So I called the pulmonologist office today to see if they had some thoughts on what to do. Still waiting for the call back.

Today we received a call from the genetics office with results. They came much sooner than I expected. He tested negative for Angelman's Syndrome, has no chromosomal abnormalities both on a gross look under the microscope and then at a very detailed level as well. The genetics doctor still wants to see my Niece's records to find out if there are any clues to possibly elude to a diagnosis. If she find there is no more testing on her end, we will return to Mayo Clinic and most likely pursue the mitochondrial testing.

Like I have blogged about in the past, these days always come with mixed emotions. You want normal test results for your child but when your child is obviously not normal you want something to come back to explain the problem. I hate to say out loud that my child is not normal. I know a lot of people can't stand when someone uses the word normal to compare their child but guess what, I am!!! What else am I going to compare him to? He is at the level of a four month old when it comes to developement. He still does not talk or coo, does not sit on his own or stand, and only rolls one way. He can't eat and breathing is a chore. Does this sound normal! Ok, so a little venting going on right now if you didn't notice. Anyways, like I said these days are never easy. Lots of emotions to say the least. So I am a little crabby but like all the other days similar to this, they do pass and at the end of it I have the most cuddly, loving, and content child ever. He is handsome, sweet, and doesn't talk back!

As always I will keep you all up to date on our search. In the meantime Logan is training in our new nurse with ease! He really likes her and so do we! He will meet his Aunt Ashley and Uncle Scott from Canada this weekend. We are all very excited to see them and will spend some time at the lake cabin catching up. Hopefully we catch a little relief from the heat so Logan can have some time outside. It has been a little oppressive in Minnesota lately. I am trying not to complain about the beautiful weather but come on, if it is too hot for my kids to go out then it is just as much torture as winter. Hope everyone is enjoying their summer!

P.S. Congratulations to our friends Joe and Kayla on the birth of their new son Charlie!!!

Best regards,
Rachel

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)