Another infection....

Okay...so this is getting REALLY old!

Sasha's leg was healing nicely from the biopsy - everything looked like it was 'sealed up' and good.

Last night I noticed that the area at the top of her leg was slightly red. It wasn't 'horrible' but it was definitely red. I figured we’d give it the night to ‘calm down’ in case it was just a minor irritation.

This morning I looked at it and the red was deeper, the area was bigger and it was very 'angry' looking...so I made an appointment with the pediatrician for 11:30. By the time we hit 11:30, it looked a little worse (so I am glad I made the appointment!). The doctor took one look at it and said, "Yep, that's infected. There's swelling and pus under there." GREAT….sigh. (s not coming down with another respiratory infection....cause honestly – we’ve had enough with infections and illness and I just don’t think either of them would handle another infection very well.

Please say a prayer that Sasha’s leg improves dramatically before Thursday and that Will’s cough doesn’t turn into anything else!!!!

We still haven’t heard any results from Dr. Shoffner’s office – and we don’t expect to hear anything until Mid May (yes, the waiting is NOT fun at all). As soon as we have results, I will update the page and let you all know.

Don’t forget to sign up for the upcoming blood drives on April 18th. Please support Will, Sasha and the children of Team Hope.
The drives will be held in 3 locations – Chelmsford, Danvers, and Methuen. If you have any questions, please don’t hesitate to contact me!

Blessings
Stefani

The D.C. Trip Outcome!

Well, we are on the train heading home from DC. We made it with moments (literally) to spare!!!!!!

Our trip was INCREDIBLE! Last year was GREAT too - but this year had a different feel to it for me - like something really WAS going to happen...and I know others felt it too! The problem last year was that the legislation hit the floor late in the session and the timing wasn't the best - THIS YEAR it's PERFECT!

Wednesday night we met with all the IDF staff (who just TOTALLY rock!) and we met up with other PIDD patients or parents of PIDD patients. We had some time to chat and catch up and then we got down to business - it was a good work session - and we ended our night around 9ish.

We got up this morning and had breakfast - we had 2 legislators at our breakfast - and they both got up and spoke and were BOTH just wonderful!

For each meeting that a patient was attending with a legislator, the IDF had one of their staff scheduled to come with them - it was SUCH a relief knowing that.

Our first meeting wasn't until 11 - so we had from 8:30ish to 10:30 to catch up. We were a group of 3 - it was me, Michelle and Towma (all "Team Hope" mamas!). We sat and discussed how we'd go about our meetings and our talking points.

Our first meeting was with Congresswoman Niki Tsongas. She popped out of her office for a moment and we had a brief but encouraging word with her. We met with one of her staffers - Daniel - and he was receptive to our requests but was unable to answer either way until he was able to speak to the Congresswoman first.

It wasn't a 'negative' experience - and we understood why he couldn't commit at that moment - so we left feeling quite hopeful in any case.

Our next meeting was at 12:30 with Sen. Kennedy's office. We met with a staffer as well - what we didn't know was that he was a physician! We were absolutely THRILLED to know this as it makes getting our point across that much easier...and in his words, this legislation was a 'no brainer' and he said he couldn't imagine Sen. Kennedy NOT supporting it because it truly stood for SO much of what he believes in. This was HUGE because he has SO much influence in the Senate and in the committee that has a lot of weight in the decision of this legislation. He also said he couldn't imagine Sen. Kennedy not supporting something that Sen. Kerry put forth on behalf of patients in our state.

Our meeting ran a bit longer than expected so we ended up RUNNING (beating feet - literally) through 3 buildings to get to Sen. Kerry's office. Of COURSE we had to be late to HIS meeting and OF COURSE the president of the IDF was kept waiting (as she was there to personally thank the staff and present a plaque for his champion efforts on this issue). We were only about 8 or so minutes late....but STILL not what we wanted!

Sen. Kerry's aide was wonderful and she stated that this legislation has had A LOT of support since it was set forth just 24 hours prior - which she said is a REALLY good sign and they are hopeful and feeling confident that this will be successful this time around. It was SO encouraging to hear this!!!!!

Our final meeting was at 2:30 with Congressman McGovern's office. We met, originally, with his chief of staff (who was awesome!). As we were about to conclude our meeting - Congressman McGovern walked in! We re-stated our hopes and discussed the legislation and the reason we needed this legislation and, before we could finish our 'ending' part - he said, "I will DEFINITELY become an 'original' sponsor of the legislation - I will call Rep. Brady and Rep. Israel RIGHT NOW and sign on. I will also get our MA legislators ALL on board and a key Rep. (Markey) as well! We told him that we weren't sure (but were hopeful) about whether or not Congresswoman Tsongas was going to become a 'original' sponsor of the legislation - and he said that we shouldn't worry about that - and he also reiterated what Sen. Kennedy's office said about the fact that Sen. Kerry presented this legislation and his fellow colleagues will follow suit in supporting such an important bill on both the House and Senate sides of this equation.

There were tears of joy because we knew how important this issue was for SO MANY and knowing that WE helped to move this along really felt SO satisfying and empowering!

Of course, a trip would not be a trip for us without an adventure!

Our time was very short between our last meeting and us having to catch the train - our last meeting was scheduled at 2:30 and we had to be on the train by 4:05 (technically sooner so we could board). Sounds like a lot of time, right? NOPE - not at all when you consider having to go from the one of the House buildings to the hotel to get your luggage and then to the MASSIVE train station and find our way through the proverbial maze to our gate. Let's just say we have NEVER moved so fast in our lives....it was like it was from a movie us running to catch the train....all that was missing was the train departing before we got on (we DID make....BARELY!).
We are currently sitting in the 'Quiet Car' - NO loud talking and NO cell phone usage...and THEY MEAN IT, LOL! (Although, someone should REALLY tell that LOUD HIGH PITCHED BUZZ that there is NOTHING loud allowed in the "Quite Car" cause it sure sounds like nails on chalkboard!

Even if we wanted to move from the 'snooty' car (lol) we would not be able to as the train is 'sold out' and it's 'standing room only' for a few people! YIKES!

Our next stop is Trenton, NJ. If all goes well we will be home around 12:15 a.m. on Friday morning....this ride is going to DRAG on forever!

We are SO exhausted and SO sore.....the weather was crummy and rainy - but I have a feeling that our MA group wasn't the only group that had good results today...I can't wait to hear all about the others!

I just can't tell you how good it feels to take something that isn't really 'fantastic' (such as lack of access to life saving infusions and better access to home infusions) and DO something about it! I just admire those out there who came out to join the IDF on this day - and I admire those out there who are fighting to get what they need....we're pulling for you and we will fight for you!!!!! Don't lose hope!

In other news:

I am SO happy to report that Will and Sasha are FINALLY on the mend. This was a really tough illness for both of them - but Will went back to school Wednesday and Sasha went back today. Ralph said that Sasha was pretty tired after school - but other than the yucky congestion - she's hanging tough! I talked to Will last night on the phone (BOY do I miss them both SO MUCH!) and he sounded SO much better!!!!! YAY!!!!!

Cloud 9 couldn't even TOUCH how positive and good I feel right now!

Thank you all for joining me on this journey to DC and sending good thoughts and sharing the success with me! I wouldn't have it any other way!

Once I get home I'll upload pictures - too many to load up from today via my cell/laptop connection!

Thanks again so much and a HUGE "Thank You" to IDF, the legislators AND the people out there who shared their voice!

I may be only ONE....but I sure can make some noise!

A Journey of Hope

4:00 came WAY too early this morning. The alarm urgently reminding me that I needed to beat feet and get moving as the day would not wait for me to finish my slumber (and a nice one at that!).

As I drove to Michelle's house, the world around me was quiet and peaceful...so different than I am used to seeing. As we embarked on our journey to DC via train, I felt a great deal of excitement and Hope for what was to come.

The reality of the impact that our voices can have on so many lives was starting to settle in through the fog of the morning and it truly felt good to know that we were going to be a part of something bigger than ourselves...bigger than Team Hope...something amazing.

As I sit here watching the world go by out my window, I wonder if the change we wish to see will be the change that comes to pass. I hope it's even BETTER than what we envision - and I have great faith that our goal will be achieved this year.

We have been blessed to have great health care, great insurance, great support, and great physicians. I count those blessings every second of every day for I know we are among the few that have all of these things...and I feel compelled to fight for those who do not have the voice I have, that do not have the health care we have, that do not have the insurance we have, that do not have the support that we have...that do not have the great physicians we have.....for I believe EVERYONE is worth the fight and worth the cure.

This trip is more than *just* meeting with legislators - it's about being able to share our journey through PIDD and help them to realize the great need that is out there for better access to life saving treatments...and without those treatments we would be facing dire consequences - and some patients will (and have) even face death.

Our words have the power to *change* the lives of those in need - and there is NO greater responsibility and honor to do so than this.

It is with great hope that I end this note - Hope for funding, Hope for support, Hope for better treatment, Hope for great success....and, as always, Hope for a cure......

Thanks for sharing the Journey of Hope with us...

Blessings,
Stefani

We are HOME!!!!!!

I just wanted to let everyone know we are home SAFE AND SOUND!!!! It took us 5 hours and 4 minutes to get home from Raleigh, NC!
The kids did great on the way home (Sasha had a rough start but did well once we gave her the tylenol w/codeine).
We stopped 3 times....which is a RECORD for us!
We barely hit any traffic at all (just a smidge in DC - but really not much at all!)
Sasha's first up for a shower, then Will - dinner - then bed!
If Will goes to sleep at a reasonable hour, he will be going to school tomorrow (which I hope he does - he's missed enough already!).
Sasha will see her PCP tomorrow morning for a post-op check as well as getting a letter for school to outline restrictions/modifications until she heals.
Overall, she's doing well - she's REALLY limping (almost dragging her right leg) so I am hoping that maybe the PT can give us some ideas as to what to do to help her overcome it...and it may just be that she needs more time, after all - she's less than a week out of surgery.

I am SO SO SO SO SO SO SO happy to be home and back in our element. Don't get me wrong - I loved being with Vance, Whitney, Kira....Jennifer and Julie....but I have come home to a ZILLION and one things to catch up on and take care of now....

Thank you all for following along on our journey these past few weeks. The updates will not come as frequently now that we are home and settled -but if anything comes up with either child, we'll be posting it here!

Blessings to you all! MUCH LOVE!!!!
There's no place like home (click click click)!
Stefani and Ralph

5 a.m. greeting

Greetings from the road in NC. We stayed 2 nights at our friend Julie's house to give Sasha a little extra time to rest up as she really was uncomfortable while driving just from GA to NC. We're hoping that this extra time allowed for more healing and an easier trip home.
We currently have 690 miles left to go on our trip home. We left at 5:03 a.m. in hopes that we will miss rush hour traffic in NY this afternoon as I am NOT really excited about the thought of sitting in traffic of that calibur!
We took a trip into Raleigh to a little museum with the kids yesterday - Sasha was content in being held by daddy or sitting on his shoulders 95% of the time. The museum was incredible, and, better yet - FREE!
The kids had a blast and we came back to the house and rested before dinner. After dinner we put the kids to bed. Much to my surprise, Sasha was asleep within 15 minutes and Will was asleep in 30!!!!
As grateful as I am to have had such amazing hospitality along the way, I am SOOOOOOOOOO looking forward to my own bed (so is Ralph). The past few nights Will has been moving like CRAZY in his aerobed and MAN it makes A LOT of noise!
I miss my family and my kitty (and our tadpole with 3 legs - hehehe).
When we get home we have A LOT to do and catch up on.
We'll have to unpack - do infusions (Tuesday), take care of some bills, get the kids set for school (I think we'll send them back Wednesday just to give them a day to get acclimated and situated as we will be getting in late tonight). I have a TON of work to do for the Beer and Wine Tasting as well as preparing to head out to DC for Capitol Hill day next week - as well as the upcoming blood drive on April 18th....and so much more.....that's just the tip of it.
Hopefully we'll just be SO busy that 'waiting' for the test results won't be as agonizingly long as it seems it will be....one can hope, right?
I am looking forward to a good night's sleep and wake up feeling refreshed!!!!
Both kids sound a bit congested this a.m. - so I am hoping that it's just 'early morning stufiness' - as they have missed enough school already!

Ralph is driving - but I will be taking over soon so I am going to finish up what I need to online and then get ready to drive as long as I can!

Thank you all so much for your support, kind words and prayers through this all. I realize that things can be so much worse - but it doesn't negate the fact that things have not been fabulous here in our neck of the woods. It's been a tough road for us lately - but we've had such great friends and family to support us and carry us through it...we are truly blessed.

When life gets darkest - it's by faith that we see.

Blessings
Stefani and Ralph

On the road again....

Well - we're currently driving through North Carolina. Our plan is to stop in Raleigh and stay until Monday morning. It's still too soon for Sasha to take the long trip home - she's been really crabby and crying a lot - so we figure we'll give her an extra day or so to continue to heal.

Wednesday she fell asleep for a bit - and when she woke up she was just beside herself with pain - her head was bothering her (no lights, no sounds and didn't want to eat)and she said her leg was hurting (which we expected) really bad. As the night went on, she was rolling around on the bed with me complaining of her head, her belly, and her leg...I felt SO bad for her - and there was nothing more to do besides keep the tylenol w/codeine in her - some food to buffer the medicine, and rub her back, head, and belly...it was a LONG night. I couldn't help but cry for her....it was the worst feeling in the world to not be able to help her. She kept rubbing my face with her hands and telling me she loved me and asking me to make her feel better...it was so SAD!

The next morning she woke up and was moving around a little better. She wasn't feeling great still, but there was improvement. I was all prepared for this day - I had brought a lot of nailpolishes and play makeup and hair accessories to pamper her for the day - and had bought special toys JUST for this day - to help it move along. She was VERY happy to be pampered and she was SO excited to be a "Rainbow Princess." As the day went on she was taking more independent steps - and finally daddy got her moving around by doing some 'low key' dancing with her.
She was SO proud of herself and was SO determined to 'DO' things by herself.
We took her out for a stroll in the 'stroller' and she LOVED that she could enjoy the outside WHILE drawing (gotta love the tray feature!).
The kids were going stir crazy - so we popped them in the car and got daddy a coffee.
We had dinner and she asked for ice cream - since she handled the ride to D&D's so well - we figured she could do another mini-trip to get some ice cream. She did really well until we washed our hands after she went to the bathroom. I'm not sure how - but she got her bad leg squished up against something and totally lost it (I would too) - so that ended her ice cream excursion - I took her out to the car to calm her down (and she did eventually calm down) and then we headed home. She slept MUCH better Thursday night and woke up Friday feeling better than she did the night before.
We decided to give Sasha another day before we headed out for a long drive and we went into Atlanta to the Aquarium. We met up with a friend of mine and spent the morning at the Aquarium. It was nice - but VERY crowded - and since Sasha really couldn't do any walking - she sat in her chair and was pushed around most of the morning - it was frustrating because we couldn't get the chair in to the tight spots and there weren't many 'openings' in the front of the exhibits (so she could actually see what they were) becuase there were SO many people there (apparently Fridays are 'field trip' days...sigh). Anyway...she still had fun...and so did we...but it was nearing 'time to go' at noonish and she was getting really cranky and her medicine was starting to wear off. We decided to go to the Shake n Bake (sorta like a Friendly's up here) where the food was cheaper.
We did pretty good - she got her medicine in her and she did well until it was time to go - and we knew we had reached her limit - so we went our separate ways - it was SO nice to visit with my friend and her children though (the kids liked it too).
We decided we'd head to North Carolina in the a.m. so we came home and packed up our stuff Friday afternoon. We went out for a quick dinner Friday night (which went well!) and headed to bed.
Sasha was up at 5 a.m. - all out of sorts - thinking that it was time to get up....then she and Will rolled around on their areobeds like crazy until 7:30 - neither Ralph nor I got any sleep between 5 and 7:30!
We got up - I packed up the room and Ralph fed them....I got the showers running (Sasha's first one since the surgery) and Ralph packed the car while I got them ready. Ralph showered and we were on the road by 10:45 a.m.
It was a sad goodbye to my cousin because I knew it'd be a while before we'd see each other again....but we were SO grateful that he opened his home up to us - and that his daughter spent the week helping us out and making things SO much easier on us....what a blessing it was (in more ways than one).
The ride so far has been kinda rough for Sasha (Will's been AWESOME!) - she's just NOT really up for a long ride yet...so we'll likely be staying more than one night in Raleigh. We just passed signs for Chapel Hill, NC - about 60 miles out from our destination....
Here are some links to some albums we have up on facebook - each album is a different part of our trip (that's why there are so many)....
Feel free to check them out...
http://www.facebook.com/album.php?aid=17346&id=1036926732&l=2ea70
http://www.facebook.com/album.php?aid=17865&id=1036926732&l=3b628
http://www.facebook.com/album.php?aid=17860&id=1036926732&l=4054e
http://www.facebook.com/album.php?aid=17637&id=1036926732&l=d8b0c
http://www.facebook.com/album.php?aid=17662&id=1036926732&l=b7d6c
http://www.facebook.com/album.php?aid=17850&id=1036926732&l=75154
http://www.facebook.com/album.php?aid=17851&id=1036926732&l=b2249
http://www.facebook.com/album.php?aid=17854&id=1036926732&l=43f07
Thanks so much for your continued support, your love, and prayers during all of this....you all are an amazing source of strength and we are SO blessed to have you all in our lives....
Much love,
Stefani and Ralph

Post-Surgery Update/Clinic Note Arrives via email already!

Well, the surgery went well and the first half of her recovery went well - but she was absolutely beside herself when she looked down at her leg and saw her 'boo boo' - and I don't blame her one bit. The incision was about 2 inches or so long and the amount of muscle they took out was a good chunk - about the size of the top section of a man's pinky (well, the surgeon explained it that way and showed us his pinky). OUCH!

The doctor said she WILL be sore - and gave us a script for Tylenol w/Codeine and said that she could do anything she wanted to - and told us that she would let us know what she was able to do or not.

She was 'okay' all the way to the pharmacy - not a peep from her - we stopped at a 'Super Target' and were dropping off the Tylenol w/Codeine and picking up dinner (and some prizes). She asked if we were going 'shopping' and I said, "Yes" and she asked to come in. I figured that she wasn't complaining (maybe I was just hoping that she'd breeze through it since she had been doing great so far compared to what I had expected) and I remembered the doctor said that she would be her own 'governor' of sorts....so I said she could go in. Everything went well until about 5 minutes in when she tried to bend her leg in the carriage - and that was it - the poor thing howled and cried and I just felt SO BAD for her. Ralph took her back to the car and I filled her script and shopped while I waited.

As we got closer to Vance's house - she began to cry a lot. By the time we got to the house she was berserk - we took her in and gave her the medicine right away and took her up to the bed upstairs. We finally got her calm and she laid there all afternoon until about 4 - she would go from being quiet to crying or screaming or grunting about the pain.

At 4, she said she wanted to 'push' Batman and Superman in the stroller outside. We KNEW that it wasn't going to happen - but she was adamant - so we told her to stand up and try to walk a bit....

Needless to say, it didn't go over well - she couldn't move her leg at all and couldn't lift or bend it and she was just crying this pitiful cry...it completely broke my heart. We asked her if she wanted US to push her in her stroller (the wheelchair - but we don't call it a wheelchair to her) - we got her downstairs and put her in the chair and it was awful - so we brought her right back upstairs and laid her down again - eventually she calmed down.

Ralph and I have been pretty much a mess all day - while we know this was the RIGHT thing to do - it's SO hard to see her like this and to feel any comfort in what she went through today. Poor Will wants to comfort her SO BAD and she just wants NOTHING to do with him - it's SO HARD for him to understand (and you can tell it's hurting his feelings)why she doesn't want him near her - he's SO gentle with her - he keeps bringing her stuff that he thinks will make her feel better (cars, her dolls, her princesses) - he wants to 'blow' on her boo boo to make it feel better and she yells and freaks out at him anytime he comes near her.

I do take comfort in the fact that my son is AMAZING and SWEET and GENTLE....I just love him to pieces...what a gift he is to us.

She FINALLY fell asleep at 5 and we are glad that she has been comfortably sleeping for over an hour.

I am hoping that, as tonight and tomorrow pass that she begins to feel more comfortable and will be able to move around better.

We received an email about a half hour or so ago from Dr. Shoffner's office - it was his clinic note (and a VERY detailed one!) from yesterday...WOW that was FAST!

We talked a lot yesterday about Sasha's history - but he really didn't go into much detail about what his 'thoughts' or 'suspicions' were....
After reading his note...Ralph and I are really quite concerned because the 'list' of possibilities are NOT good - not ONE single one of them....
And, mitochondrial disease is a common thread throught the whole note.

We now have about 6-12 weeks to wait for the 'final' outcome.

Honestly, never have I wished with all my heart that someone who was as good as this doctor was MORE wrong than I am wishing right now...

It's been a really emotional day for all of us (me, Ralph and everyone here in my uncle's house) - and I am SO grateful to be staying with my cousin Vance and that his daughter Whitney and her fiancee Michael have been helping out non-stop...what a blessing it is.

I know this journey is only just beginning - and Ralph and I need to lean on each other and our friends and family for support through all of this - and the reality is that no one can be strong ALL the time.

Truly, I wish the drama would be over - that we could 'just know' and move on. I want Sasha to have some relief and comfort....it's just SO unfair to her.

To our friends and family - THANK YOU THANK YOU THANK YOU for allowing us to lean on you SO MUCH over the past year as things have been unfolding with Sasha, for Will and for our family. Our lives have been richly blessed by having the support, encouragement, and love of each of you.

Right now we are having a hard time taking this all in and digesting it...no parent wants to see their child suffer or have any issues - and when you are faced with the reality that things are 'not good' - it's a really hard to pill to swallow. What we wouldn't give for normalcy and the simple things in life....

We will have faith - we will have HOPE - and we will take Courage....
But right now - for a brief moment - we are allowing ourselves some time to feel sad and angry and scared....but soon it will be time to pick ourselves up and dust all that off and move on with fierceness and determination to give Sasha what she deserves - comfort, good health, and no limitations.

To all of you who are parents...please hug your children a little tighter tonight - enjoy the simple things, revel in the quiet moments....they are SO precious...

Blessings to you all,
Stefani and Ralph

Sasha's in surgery as I type this....

We got up REALLY early this morning - Sasha showered and she got to put on a new 'dress' (which was really a nightie!) and she was ALL excited about that. Our trip into Atlanta was uneventful and we got to the surgery center at 6:30. The place was beautiful inside and the staff has been wonderful so far.
We met with the nursing staff, the surgeon, and the anesthesiologist - we discussed the procedure and the possible complications.
The piece of muscle that they will be taking is MUCH larger than we anticipated but he told us she would be back to full speed once she fully healed.
The lumbar puncture might pose some issues since they are taking 2 teaspoons of CSF fluid (her other LP's were MUCH less fluid) - he told us that it is 'possible' but not likely that, if problems arise that she might need to be admitted for IV fluids and IV Caffiene. The LEAST likely scenario is that they would need to do a 'blood patch' - which they take blood from her vein and insert it in the spinal column where they did the LP - and it's REALLY not likely that it would happen.

We'll be hearing from the doctor soon as he said it's about a 45 minute procedure and it's been over 45 mintues. She'll be in post-op for at least a half hour and then recovery for at least 2 hours...so it'll be a while before I update....

Please just pray that the rest of the day goes well and that there are NO complications from it.....
If you want to view pics of this a.m. - go to
http://www.facebook.com/album.php?aid=17637&id=1036926732&l=d8b0c
(I'm in the process of uploading them right now...)

Blessings

Stefani

Our LONG day today and DETAILS about Sasha's procedure tomorrow

Well - it has been a VERY long day. It was BEAUTIFUL out - a little over 80 degrees here I believe and I am nursing a little sunburn even!!!!

We got up early - gave Sasha her breakfast before the 'cut off' time - got the kids ready and headed into Atlanta with my cousin Whitney. We arrived at the testing facility for the Resting Metabolic Rate (RMR) - I took Sasha in. We got all set up and they were put this 'helmet' type thing over her - and she FLIPPED out - and I mean FLIPPED out. We calmed her down - she agreed to wear the 'mask' instead - but after we got her all hooked up in it - she freaked out completely and it was clear that the RESTING metabolic rate test would NOT be possible in Sasha's case as she was NOT interested in cooperating.
They said that it would NOT be useful to have her do this test if she can't stay calm and still for a period of time.
We were frustrated - and I wished she would have cooperated...but I had to put my frustrations aside and realize how scary this all has to be for her - a different place, new faces, and WEIRD things being done to her by people she doesn't know.
We had 2 hours to kill between appointments so we went out for lunch - and finished just in time for Dr. Shoffner's appointment.
He was really nice - very well versed on Sasha's case and focused on getting extra facts.
He didn't really give us much news - just that he felt that there was an issue in the 'neurotransmitters' in her brain and that it was going to be hard to tease this all out because she has SO much going on neurologically. He feels there is a genetic factor in this. He said that this is likely 'central' (in her brain) in nature and that we'll either be able to rule in or out Mitochondrial disease through this testing as well - - - and that was about it. He discussed his ideas on testing and we agreed to it - then he said the 'average' time (with no complications) is 4-8 weeks but can take as long as 12 weeks - then we should receive his BIG report and we'll know from there. I asked him, "What happens if you do all these tests and don't find anything?"
He said, "Well, clearly there is something wrong - but if I find nothing, then you regroup with your doctors up in MA and try to figure things out from there...the reality is that some people get answers...and other people don't."
While I appreciated his candor - it made me SO sad to think that we MAY NOT get answers...and then we're back to ground zero.
At this point I just REFUSE to even ponder this thought any longer as it does me (and Sasha) no good...but it still kinda stunk to hear that....
We were happy with our visit and he was just SO good with Sasha and he just had the greatest demeanor.

SO - the plan is to arrive at the center tomorrow in Atlanta at 6:45 (EARLY morning!)
She will have a fresh muscle biopsy, skin biopsy, TONS of lab work, and a spinal tap (all while under anesthesia) and that she should do pretty well recovering from it.
SO...my guess is that maybe her procedure time is 7:30??? We should be seeing her in recovery by 10 the latest???
I plan on bringing the laptop to pass time while we're waiting or else I'll be crawling up the walls....my nerves are SO shot this week!
If I can get cell reception I will connect to my laptop and post an update after she goes in.
Thank you all for your prayers, advice (thank you Mandy!) and your support and concern for our family and our sweet Sasha.
Off to get Sasha ready for bed and HOPE she falls asleep sooner than later - and I hope to too!!!
Blessings
Stefani

It's a new day

Driving through the majestic mountains yesterday and then the scenery in GA - I am reminded just how amazing this earth really is. I just wish there was more time and money to see MORE of this beautiful place. I look at my children and I am just speechless over their exuberance and joy despite what they endure - what a lesson they can teach us all.It was great to wake up to warmth and the brightness of a new day. As I sit here taking in the sounds of birds chirping and the children laughing...the weight of the next few days looms heavy in my heart. I don't know what lies ahead for us and I fear the worst (while hoping for the best) - I was reminded of how quickly things can change by the loss of another 'mito' child over the weekend. He was just shy of 2 - 2 years younger than Sasha...I couldn't help but think of his family as we drove yesterday - as we anticipate our upcoming appointments hoping that we get better news - this family is grieving with the worst reality possible. As I woke up this morning and reveled in the beauty of a new day, I thought of how this 'new day' would dawn with Brody's family...and how his absence must feel....and I continue to think of how unfair and heartbreaking all of this is for SO many people...how much these children, families, adults have to fight just to LIVE life....but I digress....
Today will be busy; we will be unpacking and getting organized, doing infusions, organizing medical records so that everything is set tomorrow - AND trying to enjoy this beautiful day as I feel it is important to BE in the present (even if our thoughts are on things that lie ahead).
I am so blessed to have friends and family who have helped us through these times - and I am full of hope for the time that comes ahead.
As I was looking out the window, I was reminded of this song by David Crowder, "The Glory Of It All....the music is beautiful and it is comforting to think of things in this light....that, 'after all' we'll be okay.....and even though 'we will never be the same' we DO have HOPE...
www.youtube.com/watch?v=Zg-1yM6insA
More to come!
Blessings
Stefani