Thursday, September 25, 2014

Genetics Update

I heard from the metabolic specialist who saw Logan a handful of months ago. He did a urine test that came back normal and has further discussed Logan's case with the genetics team at Children's. Apparently the Exome sequencing done a long time ago showed that Logan and I both have a genetic mutation on the HUWE1 gene. Apparently this is an X-linked issue.

I am not the smartest when it comes to understanding how this all works but from what I figured out, I am a carrier of the mutation. I don't express it. A woman has two X chromosomes and a male has one. Apparently this puts the male at a disadvantage because their chances are higher to actually have the genetic problem. 

I have never claimed to be an expert on this topic, I only write to the best of my knowledge! So basically the doctor wants to send us to the next level, the National Institutes of Health's Undiagnosed Disease Clinic. I will not go into grat detail as it is on google. Basically it is a high level program that only chooses a certain amount of cases per year to look at. I am hoping Logan is one of those cases. I have researched the NIH's program in the past and always thought if we got to this point I may advocate to have one of Logan's doctors help us apply to the program.

Well we are at that point at the recommendation of the specialist. This gene that was found may not actually be our answer but it is really all we have to go on at this point. I wish answers would have come sooner and with less of a financial, emotional, and physical toll on Logan and our family. I debate whether it is worth pushing forward. Honestly an answer won't change Logan's prognosis. What will it do for future generations, I don't know. What will the pursuit of answers do for science or for other families, I don't know, 

So hopefully we will hear back from the NIH in October. I don't want to hold my breathe but I know it will be on my mind every day. It is torture to think something from inside you passed to your offspring and caused such havoc. I know this is way, way, way beyond human control but that doesn't stop the feeling of guilt. If I didn't feel bad then someone should be worried about me! 

In the meantime, Logan is finally getting over a cold. Lauren had it for about 24 hours and he battled it 7 days. He had a fever, was on and off oxygen, had tons of yucky secretions, and was unable to sleep. Tonight I came home from work and the sparkle was back in his eyes! Yay! He may not speak but the story on his face tells it all. I'm so glad this illness was low on the crisis scale. His symptoms were very manageable at home. I think he is going back to pre-school next week. He needs to be with his teachers and friends! 

Tomorrow Logan has a check up with the pulmonologist. I always enjoy visiting with Dr. K. I have a few big questions to ask and hopefully won't turn into a blubbering idiot! For me it is important to have a game plan for the future. Part of that game plan is the oh Sh** plan. I won't elaborate too much as many readers will get my drift. 

It is very important that I plan for the what if's. I mean come on, I'm an ER nurse who is trained to think worst case scenario. I truly believed that mindset is what helped me when Logan had his horrendous seizure and stopped breathing. I was ready. I had ran similar scenarios in my head a million times and when push came to shove I did it. I helped save his life. So to me, it is important to be ready for the next what if. I don't want to be stuck making a last second decision because I put off thinking about it because it was too painful or scary. I'm sorry but that ain't gonna fly in an emergency and it sure isn't what Logan deserves. 

So on we go as usual with bumps in the road as expected. I will post as soon as I hear back from the NIH but I will hopefully post on something else sooner.....

Mr. Logan turns four on October 22nd! Whoo hoo! I can't wait! Every birthday is such a blessing and an extremely major milestone! So until then my friends! 

Tuesday, September 9, 2014

Communicable Diseases

This time of year, my stress levels increase as flu season approaches. Over the past few days the stress has turned to mild panic. I keep hearing about a respiratory virus called enterovirus. I have read that it is hitting the Midwest and causing kids to have some pretty severe responses. Most cases seem to be in children who are immune compromised or have an underlying medical condition. Well ladies and gentlemen, that's Logan. 

Now he and Lauren are in school. Joel works at a school and I'm an ER nurse. We sound like a bad Petri dish of germs waiting to happen. To top it off, we also have almost 10 nurses in and out of our house. I'd say we all have decent hygiene but that's doesn't feel like enough.

I'm so scared to even touch or kiss Logan. Now I'm worried about sending him to school. (Sarah, I left you a voicemail) If he became sick with this virus, I worry he wouldn't be strong enough to fight it. If he required ventilatory support, would we be able to get him off it? 

These are all questions Joel and I toss around in our heads as we worry about Logan getting sick all the time. Now it feels a little more worrisome especially when there are so many other bugs out there right now. We know the big bad respiratory illness that landed Logan in the hospital for a month and a half a few years ago was a virus, parainfluenza. We were told that during that winter that parainfluenza was hitting kids like Logan harder than usual.

Sounds too similar to what we are hearing now. I know we will be faced with some big decisions about Logan's future someday, just praying no sooner than it has to be. So for now, I will probably keep panicking. It's my job as a mom! I have some calls to make tossed about school options and maybe a call to the pulmonologist to make sure I'm not going overboard! 

We appreciate all the continued support of Logan. We love to hear that so many pray for him and keep him in their thoughts! P.S. Please cover your cough and wash your hands (just had to throw in the PSA!)

All the best,
Rachel




Sunday, August 31, 2014

Logan's Make a Wish celebration photos

Logan had his Make a Wish celebration in July. It was such a blast! Our wish granters Barb and Donna planned a blowout bash. It was carnival themed and had everything we asked for and more. It was beyond what we would have ever expected. 100 of our family and friends attended to help Logan party and I think everyone had a great time. The pictures tell it all. 

Thank you again a million times over to Barb, Donna, and the Make a Wish Foundation. We are so blessed to have been given this opportunity. 

Thank you to all the volunteers and vendors  that made Logan's special day happen:

Liv H 
Jayne B 
Kelly C 
Andrew S 
Olivia M 
Alex M 
Jennifer M 
Brenda S
Amber S 
Debbie C 
Kyle G 
Lyn O 
Abbey O 
Sabrina O 

Photo Booth Creations (Stacy)

TD Happy Faces (Face Painter "TaDa"  & "Pickles" the clown
 
Steve aka "Mr. Fun"
 
Mandona Moshrefzadah 
 
 
Hasse Family (Petting Zoo)
 
Jill (DJ)
Adagio Entertainment
 
Elk River Park & Recreation