some things never change. . .

{sigh}

I don't think Ive ever been so unprepared for our Mito follow up...

The morning started all wrong. I could hear the sound of my daughters voice as I opened my eyes, it was still dark but I frantically jumped out of bed and quickly realized I didn't awake to my cell alarm. Knowing that this was the first day of the Seattle "alaskan way viaduct" closure, I would need to leave extra early to navigate through the downtown traffic snarl. I really thought I wasn't going to make it as I just inched along I-5 at 10 miles an hour. Thankfully we did but it took us 90 mins to get there, even in the carpool lane! Whew, I was only 10 mins. late and not late enough for them to tell me I would have to reschedule.  For once, they were ready for us right away... but maybe that wasn't such a good thing after all.

This didn't allow me to have time to wake Jack up or gather my scattered thoughts together either. Because uunfortunately, Jack looked like this again. This will be the 3rd follow up in a row that he hasn't been awake for Dr. S., and I hate it. I made sure I got him down early, despite his tossing and turning, he got more hours asleep than he normally does... but I guess it didn't make any difference. Again, Dr. S. couldn't see what a great little boy we have, instead he looked quite pathetic slumped in his wheelchair and only cried when he tried to examine him and check his reflexes.

Whats worse is with all the rushing in the morning and NO time to shower (thankfully I was having a good hair day!), I forgot to take my little notebook with the reminders of what I wanted to discuss with him. So what Im trying to say is that I just sat there through the appt. like an idiot, forgetting some key questions to ask him...

FOR one, I failed to ask him about the the tethered cord possibility, and another, should he go back to see urology now that the MRI's of both the upper and lower spine are normal, which has essentially ruled out the tethering. AND what about his bladder/bowel issues, how common is it, having a child that was potty trained and then losing that skill? Should we just accept this as the end all, they didn't find anything so theres nothing we can do for him?

I know right, how did I forget these 2 important ones??! Actually, We did get on the subject of diapers and I was heading into the bladder/bowel stuff but that's when we got side tracked on the testing info, anyway...

I literally walked out of that little office and got on the elevator and it was as if it all just hit me, I found my brain all of a sudden... honestly I couldn't of be more disappointed in myself. Ugh, knowing I wont have another chance to have him sit in front of me for 6 long months was even more maddening! WOW... I could come up with many excuses but whats the point, I blew it, great job mom...

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But the good news is as soon as I realized I had forgotten and before we left the hospital, I sat right down and sent a quick email off to his nurse. Pam was able to get his opinion on the tethering anyway. Dr. S. agrees its  very unlikely and is confident that the neurosurgeon saw nothing to indicate this is why he's having trouble with his bladder/bowels. I feel better and more reassured we've ruled that one out for good. The thought of spinal surgery was very scary. She didn't let me know if Dr. S. feels Jack should be seen by urology again for further treatment though.

I guess Ill just wait to see what DR. R (neuropathy Nuero thinks) His upcoming nerve study in Nov. may show something and give us answers, however Dr. S. feels that a neuropathy  wouldn't necessarily affect his bladder or bowels... so what to do, what to do.  

I did mention his on going leg pain but he didn't say much about that, I think he's waiting to see what the nerve study shows and then letting pain clinic handle that stuff... even though we cant get into the pain clinic until possibly Jan. or Feb.! Theres a cancellation wait list a mile long that I call weekly but  it would be a miracle if we could get in much sooner. Pam got me excited when she told me "I know someone, Ill try to get you in earlier" Only to find out later, this person she knows only works with inpatient kiddos, but I appreciate the try, Ill keep calling the pain clinic and bugging them!

I talked about his continued twitching but no response on what this means, just more hmmm... as he continued to focus on his monitor and typed away. Dr. S. always has his wheels turning and often is very quiet while he studies your child. So I find unless you ASK a question, you may not get much.

I mentioned the CVS and the recent retching in the middle of the night and Pam suggested I start his feeds at 8pm so that he wont be laying down long for his entire feed. I agree, but this would mean Ill have to hook Jack up in the evening and have him on a continuous feed while he's awake. This is his most energetic time of the day, not sure he would like that as he hates being fed due to all the discomfort. Although he's fed like this at school, its a small feed and many times they have to turn it off because he complains. This is why the night feeds have always worked for him, so he's unaware that he's being fed. I guess Ill just have to decide on what to do about this one.

I suppose we'll be heading in that direction at some point anyway when he wont be able to handle larger feeds and will need slower rates. I'm always trying to do whats best for Jack in terms of nutrition and also finding the right balance between pain management and allowing him to have a normal life as much as possible... without being attached to a machine.

I then asked Dr. S. about his recent MRI and what the results were. He brought up a little image of Jacks skull on his computer and said it looked the same, a normal MRI, WHEW! Then he mentioned his MRS still showed lactate peaks, just another indication of Mito disease. I asked if it was worse than the one in 2009 but he said it was hard to tell. He didn't seem concerned at all so I guess I wont be either. I am very thankful his brain looked good and showed no white matter disease or disease progression, this is a big relief. BUT maybe those lactate peaks are really here to stay now and will always be present.

We also talked about the anesthetic he got for his MRI this last time and how he awoke like a maniac. Apparently Dr. S. wasn't even aware that Jack received PROPOFUL, as this is a BIG NO-NO with him and his Mito kiddos. As I posted before, I knew this and even brought that up, telling the anesthesia nurse that Dr. S. didn't allow Jack to have it for his 2009 MRI. She reassured me that it was OK, that it was discussed and he also received in for his dental surgery he had in 2010! News to me, and apparently to Dr. S. as well! By his expression, he was less than thrilled to hear that. So this was noted and wont happen again.

So with his dental surgery date coming up, we'll need to discuss what they can use to sedate him. Sadly, it will likely be the 2 inhalant gases they've used before, the same stuff he also did very poorly with... so I expect we'll have the same "wake up" experience this next time too. Maybe we just wont ever get it right with our boy.

Dr. S. said Jack was growing pretty well, 50% for height and 10-15% for weight. BUT we've always been low for weight, Im just glad to see he's gaining in height! He boosted up his dose of COQ10 and also added vit D to his daily meds, he appears to be low here.

As for the testing, Dr. S. told me that the nuclear GENE chip test is finally ready and available for us to do! Jacks blood has been banked and been waiting to be sent out for nearly 2 years now! 

BUT now for the let down... Dr. S. cant order it, only his PED can, theres some conflict between the providers. So that's our next step... BUT the question is, will our insurance even cover it? They tell me its about $16,000. I'm thinking our insurance wont feel its necessary and understand why this info can be so important to families. NO, this info may have NO affect on his treatment, unless another drug becomes available and only the children that have a "identifiable gene" can take part in the study. But knowing the gene can also give more info on our other children and their children one day. BUT I'm less than hopeful that this insurance, which is an insurance for people that are unisurable will find its needed and will likely deny it right away. Even if they offer to pay half or 80%, we still wouldn't have a few thousand laying around to make up the difference. I guess we can always hope theres a chance they will cover it and try anyway.

AND with the EPI-743 study coming here to Seattle Children's. (this is the trial drug that the researchers have seen some success with, but for now is only offered for kids 3 months from end of life)  Dr. S. said theyre close and just working out the final details. Seattle Children's already has a handful of very ill kids waiting to start on the trial that are in their final days. Praying this means some of our sickest local mito kids will see benefits from this drug at a time they need most. I'm also hopeful that this is just the first step that will allow all our kids new treatments in fighting this disease.

Before we left, Pam handed me a handful of paperwork to sign to have Jack be part of a research study to look at Mito patients disease progression over time. Its private and he will be given a number, none of the info we provide of his care will identify him. I was gladly to help.

I asked her if we will get any information from this and she calmly said, "no, you  understand this probably wont benefit Jack but the kids after him" I know what she meant... but the words "after him" was difficult to hear. I didn't like that feeling and what that may of meant or sounded like. It hurt and quickly reminded me that we have a long fight in front of us. As of today, there is NO CURE and theres no guarantee there will ever be one in our lifetime or our sons... just a tough thought to swallow... all over again.

NEED PRAYERS... 

for a 3 year old little boy named Calvin who also has Mito that Ive asked for prayers here before.  I met up with his parents, Tricia and Brian at Children's today after our appt. Cal was having eye surgery and they were still waiting for the surgeon to brief them on how he did. I was there when the surgeon came out and told them both that he did well and the surgery was a success...

but they were also still nervous because sadly little Cal has a history of not awaking well from anesthesia. AND as far as I know, he still hasn't woken up, over 12 hours post op. Unfortunately, its not uncommon for many mito kiddos to have trouble with anesthesia. His parents are worried, and now he's developed a fever and needed to be cathed. Ill have a tough time sleeping tonight not knowing how he's doing.  Continued prayers he improves quickly, lots of hugs for sweet Cal tonight. Thinking about you both.

ALSO

 I need your prayers for a local family that just lost their beautiful 7 year old little girl Peyton, to an inoperable brain tumor. She was the most amazing little girl and will be missed by so many that knew and loved her. Just so heartbreaking.

AND PLEASE PLEASE take a moment and go to the families website and see what they've done to give back to so many other special kids in need. There are no words for families that give back like this, helping change lives of many little ones that are ill and in pain and still fighting. Peyton's dream was to have a farm of her own one day. They say "Peyton was born with a gift of love and tenderness for life"  and there is plenty of evidence of that in the many pictures of her holding the animals she loved so...  

http://www.peytonsranch.org/Peytons_Ranch/Welcome.html

Please pray for comfort, peace and healing in the days ahead.

(oh geez, another very long post, well I hope some of you could get through a tiny bit of it anyway...need to edit better! thanks for stopping by)