The search continues.....

Today was a long day of appointments for Gabby. My eyes hurt and my head is still swimming the in depth discussion I had with our Research Genetics doctor, Dr. William Dobyns. We are lucky to be working with such a passionate man who really wants to learn all he can about his patients and families to try to help others. It has been 2 year since we have sat down with him to discuss Gabby and her health issues, but it was time well spent. He walked in talking about Gabby as if it had only been a short time since our last meeting, he knew all about her recent stays and medical hurdles. I will try my best to sum up all we talked about here, but know I am tired so this may all be a tad jarbled. Some of the things we discussed are tough to talk about, so bare with me as they may be vague in detail still.

Dr. Dobyns is so interested in Gabby he has invested a great deal of resource, time and money into helping us all learn about the cause of Gabby's health issues. He sat and talked to me like we were colleagues, not like I was someone who wasn't trying her hardest to comprehend all the big words and complex processes. He just made me feel confident and competent. We were in appointment for almost  1.5 hours!!! Never once did he rush my questions or look at the clock.

First was the research in Helsinki, Finland. That is still going on even tough I figured after a year and a half of no information that meant she was negative for the gene they have identified over there. It turns out they are 'just slow' according to the doctor today, so he didn't wait and began his own testing with a sample of DNA from Gabby, Greg, and Me. Some of that has come back recently, and with some abnormalities. So, if I am understanding correctly the next step is identifying specifically what is abnormal. One they have conformed was a false positive. Dr. Dobyns gave me the email address to the guy he is working with who is doing the lab/technical stuff and encouraged me to be in touch with him throughout the process! I was so excited to know we didn't just have to sit back and wait. 

We talked about the brain atrophy, and the fact he is fairly confident for the time being it is all status quo, and any deterioration from now "SHOULD" be subtle, meaning her developmental issues should be baseline now. 

He suggests we put most of our focus on her seizures, since that's really all we have an opportunity to control (or gain some type of control, which we have never really had). The term quality of life came up again, and we were both in agreement that seizures can really disrupt any type of connection she may be making with her surroundings, so getting a strong handle on that (as best we can) should be top agenda. We are in the process of changing up meds, so her seizures have been an issue again...but hoping we get back to keeping those numbers down again soon. Always a long process to change meds, and Gabby get's so attached to them, it can take up to a year to accomplish our goals.

And with that quality of life discussion came the topics I just don't want to revisit yet. The what to do if, or when do we consider..... we aren't facing them just yet, so I chose to see the wonderful things every day we get to enjoy with each other. I am taking the suggested steps and talking to a professional already on being in a strong place....but why miss out on what is here while worrying about what may be there later. 

Overall I am hopeful and terrified. There is a SLIGHT chance something uncovered could have some type of treatment, or therapy or tools to learn from to continue to improve Gabby, no cure but things that could assist her. I just know that no matter what we find, we will have learned from our adorable little teacher here, and what a great gift to share with the world, the gift of hope.

taken her first day in the NICU, arm up saying "I WLL FIGHT THIS"

What' new!

Oh my, it has certainly been a while since I have taken the time to update you on our days. I made a promise to Gabby while admitted that she would indeed get some plain ol' summer fun after we got home, and I have worked hard to keep that promise to her! 

As I write this, Gabby is being treated for another UTI and getting over a nasty viral bug. As careful as we all are with her and germs, some things are just inevitable I see! We have had check ups with most of her doctors post admit, they are pleased with how she's getting back to her baseline, our 2 big hurdles being kidney stones and adjusting seizure medications (which could be playing a part in her stone issue as well). As most of you know, we had another surgery planned earlier this year that was obviously postponed due to the complications from her initial surgery. Last week we had a great sit down with the Orthopedic doctor and openly discussed all that the hip surgery would entail. I felt so good leaving his office as we were both on the same page from the get go! Basically that surgically pinning her hip bones into their socket would in no way extend her life expectancy, but in so many ways could decrease it so we aren't doing anything at this time. He assured me that there shouldn't be any discomfort at this point, and with her back brace doing its job that we are safe to wait and see what the next year brings. We all want to see her just strong and healthy and enjoy her world around her, so it's time that is our main focus and go from there. All of my concerns were addressed and I felt very educated and listened too. 


Now on to the FUN stuff! We have spent many afternoons with the girls at the local park, swimming, riding around the neighborhood,making friends and enjoying the most beautiful summer weather we had.
 

Swimming and Auntie Abbie's with Carmen and Alex

Speeding through the 'hood in my tricked out ride

I LOVE the park and fresh air

I LOVE how she's pointing to her shirt

Our other big family news was we were lucky enough to join my folks and brother and family on a super awesome Disney Cruise in October. (THANK YOU MOM AND DAD!) It sailed the coast of California and Ensenada Mexico. The weather was gorgeous and the ship was spectacular. Everyone just doted on Gabby and were so accommodating. We had an accessible room for her chair (was 1" to wide to get through a regular door, so big room it was!) and it was AMAZING!!! not only was it roomy (yes, I said roomy on a cruise ship) and clean and comfortable, but my PRIVATE deck off the back was half the back of the ship. It was perfect. Gabby and I had some super awesome quality time just being together, I know I filled my heart with even more special moments. Shea and Scarlett were even very involved in making sure Gabby didn't miss anything, and I also know they connected with her again in a way they don't do here with all of life around us. 

Happy 10th Anniversary Scott and Michelle

 The above moments that were captured were but a few, but I hope you can see in our faces what a perfect time we had. Not many families can boast a connection like mine, and I am proud to say we are close and strong. We laughed a lot, listened a lot and smiled even more. Now, when can we go again!??!?!

Since we have been home

Finally taking a moment to relax and catch everyone up on our summer break. I promised Gabby a fun summer and we are doing our best to reach that goal! (though I will admit I started this entry 3 days ago!!)

Will start with the boring medical stuff to fill you in. We now have confirmation after completing 2 separate 24hr urine studies and an analysis that Gabby does have Calcium Phosphate Kidney stones. We are early on in learning what this entails, but we started with increasing her fluid intake and removed her extra vitamin D from her daily routine. One more urine analysis to go to examine if the fungal ball we battled in the hospital stay is truly gone, then hoping we get this all under control. And we are on our second respiratory illness since we have been home. Stupid germs! We are unable to attend our day at Stamm Camp tomorrow since she was fighting a with a fever and oxygen sats all day. We are sorely disappointed and will just have to look forward to next year.

Now on to the funtastic stuff! We have enjoyed many evenings with friends, catching up over dinner. Rode the Kington-Edmonds ferry on a gorgeous night to go have ice cream, downtown day to ride the "Great Wheel" with a family from our seizure support group on vacation from California, (randomly ran into friends I went to HS with in California walking along the waterfront so we caught up over lunch at the Pike Place Market), swimming and dinner with cousins Carmen and Alex, and of course loving time at the park with Shea and Scarlett. WHEW!!!! 

It's been so nice to be home and getting in the groove, and I chuckle as as soon as this all becomes routine school will start!  

Stow away germs

We came home from the hospital all ready to face the week, yet we are dealing with more than we bargained for. Seems some little germs packed themselves in our stuff, very uninvited for sure! Fever and lethargy took over on Wednesday then the crud sounding breaths. Ugh..so off to the pediatrician we went yesterday and as we were talking about the night and how Gabby was looking I causally mentioned that blow by O2 would have been nice to just let her sleep with a little support, but not BE ON O2. He took one look at me and was like, well why on earth don't we have O2 at home? I stood by my previous notions of, if she needs O2 then we are too sick to be home. He asked me if she looked sick enough to be at the hospital and I said no, and without saying anything else the light went off. So, at 5pm on a Thursday, we decided to have blow-by for nights when she's got a cold and just could use a little support. I never imagined it would be delivered within 3 hours to my home and set up by the super nice Children's Home Healthy delivery guy. It came in handy as I heard the pule-ox machine beep around midnight. Just that little bit of extra allowed her to sleep more comfortably (until the extremely loud and vibrant thunderstorm made an appearance). So, another day of resting peacefully at home it is. I suppose this is life's way of making sure I get my to-do list tackled.....

HOME, no longer the forbidden 4 letter word

Ahhhhh....writing from my couch at home, catching up on some quality TV on the our DVR (wish I would remember to FF the commercials, 19 weeks must equal desensitization of commercials) and Gabby's peacefully snoozing in her own bed. Took the day to unpack all the goodness that came home with us, snuggle, get Gabby and overload of fresh air and recoup. 

I am not really sure where to even start to sum up the last 19 weeks of life. Strangely enough it already seems so long ago. Got right back in the swing of feeds, meds and being just us. On the other hand, I found myself wishing I could know how our next room neighbor was doing, and kept checking the time to make sure I didn't miss the doctors for rounds, and at about 6 pm wondered who the nurse was for the evening. Instead of doctors and nurses and machines, I got Gabby in her chair and we walked around the 'hood' with our next DOOR neighbors. Little Cody pushed Gabby around the entire block, everyone was out and gave Gabby the most loving welcome home. People we don't get much contact with made sure to welcome us with prayers and love and support. I am overwhelmed on so many levels, and just makes me love where I live even more. Yesterday we arrived to a porch filled with flowers and balloons and a living room decorated to the nines with colorful streamers and balloons all over. Was so in awe, and still am, again at the out pour of thoughtfulness. 

I made sure to take some time today to really explore our stay and what it was really all about. I know it was to get Gabby well and heal, but also know there was so much more to it. We learned patience, and I feel no real surprise with that one! To break that down though, we learned patience withing listening to Gabby and really taking time to follow her clues and listen to her voice. She's actually VERY proficient in getting her point across and her needs met IF you take the time needed to hear her. Patience within myself when it comes to the not knowing (which for those of you who know me grasp the magnitude of that one). The not knowing what is wrong and when will we learn, the when will we go home and what will home be like now, and even the not knowing at times who will be walking through the door to share news and what do we do with that news. Forgiveness, now this one really wasn't one I really thought I would experience, but low and behold our little Gabby has her magic way of making things happen, and more often than not, for the better. Gabby has a special way of putting things in perspective, even when you aren't paying any attention. I learned the true art of what was doesn't have to be what IS. Thank you Gabby, thank you for being a wonderful teacher to everyone. She and I were both blessed to welcome in to our lives many spectacular people who have a place in our hearts forever. Seattle Children's Hospital, can't express enough our gratitude for the ENTIRE staff (down to the warm baristas at Starbucks that made sure to get to know you). We are absolutely impressed over and over again.