Tuesday, July 17, 2012

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