Welcome to Hope Rising!

'When you have come to the edge Of all light that you know, And are about to drop off into the darkness Of the unknown, Faith is knowing One of two things will happen: There will be something solid to stand on or You will be taught to fly'
Author Unknown.

Through this journey, no matter what we've faced....our Faith has taught us how to 'stand' and 'how to fly'

Please join us on our journey of Hope. Some times we are 'standing' and some times we are 'flying' - but one thing is for sure....our two amazing children (Will and Sasha) have been the biggest blessings in our lives.
While they struggle through life-threatening illnesses, they also show us how incredible life truly is. Their joy, laughter, fierceness, and tender spirits lift us and carry us through any storm we've had to weather!

Thursday, March 26, 2009

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 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!

Wednesday, March 25, 2009

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 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...


Monday, March 16, 2009

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 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.

Stefani and Ralph

Saturday, March 14, 2009

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 was a LONG night. I couldn't help but cry for 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 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 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...
Thanks so much for your continued support, your love, and prayers during all of all are an amazing source of strength and we are SO blessed to have you all in our lives....
Much love,
Stefani and Ralph

Wednesday, March 11, 2009

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 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 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'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 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 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
(I'm in the process of uploading them right now...)



Tuesday, March 10, 2009

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. 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 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!!!

Monday, March 9, 2009

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 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...
More to come!

Sunday, March 8, 2009

Almost there!!!!

Hi everyone! We are exactly 4 hours 43 minutes out from Woodstock, GA (according to the Magellan). Last night we stayed in Woodstock, VA (gotta love the irony in that!). We got to the hotel at about 10 and it took us til about 10:30ish to get everything up in the room that we needed. The kids were WILD despite our best efforts to keep them quiet. We ended up getting a call from the front desk...apparently the room next to us felt there was too much 'banging' (which would have been Sasha hopping around like a maniac). I told them I was trying my best to keep them quiet but they had been in a car for 12 hours and they were just happy to be out of it. I also told them that maybe they needed to make their walls a bit thicker (I didn't think it was THAT loud!). Sigh....anyway, Sasha would NOT fall asleep - it was about 12:00/12:30 before she fell asleep. Will fell asleep by 11:30 - but he kept saying that he was itchy.
We woke up at 8am - Will's eyes were swollen and he was sniffling like mad - Ralph took the kids to eat breakfast and I got the kids aerobeds packed up. When they came back from breakfast it was time to shower them. I realized that he had a rash from head to toe - poor kiddo...
I gave him benadryl and we headed out. The Magellan took us down I-81 through VA - and, I am SO happy to say that after what feels like ETERNITY in VA - we are now in NC.
I was going to upload more pics from today but I am a little bit challenged when it comes to computer equipment. My card reader wants to RE-load the pics from yesterday AND the new ones and I don't have the option to just 'upload new pics' BAH!!!!
We HOPE to be at our cousin's house by 7pm. It's ABSOLUTELY gorgeous out - mid 70's and VERY sunny (I'm actually hiding under a blanket (sweating my face off) with the laptop because I can't see the screen any other way! ;)
Sasha has been saying that she has to pee and poop literally the entire day....her medicine that she takes for the episodic ataxia type 2/familial hemiplegic migraine is also a diuretic. We never really realized just how much she peed until these past two days - it's like every half hour or so...which makes 'making good time' quite an issue!!!!!
I will update again (hopefully with pics) once we get to Georgia!!!! We're about to make ANOTHER pit stop for Sasha.....

My heart is sad because another Mito baby has earned his wings - Brody was the most amazing and courageous little boy and he was taken from this earth entirely too soon at just under 2 years of age. Please pray for Brody's family - for comfort, peace, and strength. To see what that wonderful family went through because of Mitochondrial disease just makes me THAT much more determined to do SOMETHING.....

Saturday, March 7, 2009

Hello from the road!

Greetings from New Jersey!!!!! We are currently on the New Jersey Turnpike near the Garden State Parkway. We left a little later than expected due to Sasha being up from 2:30am to 5am saying her head was hurting - as well as sneezing and having a runny nose....sigh - I REALLY hope she's not getting sick. We let her sleep in so she could get her rest and we got up at 7 to finish packing the car up. We hit the road about 10 am and have had about 2 hours in stops since, lol! I wish that our bladders would all get on the same schedule!
Sasha and Will are doing pretty well so far in their seats - asking every so often, "Are we there yet???"
Our Magellan says we have 878 miles to go til we get to Atlanta...we're thinking we'll hit a hotel around 8ish to give the kids a break and to get some good sleep!
The rental car that was donated to us to use with unlimited miles by Enterprise (THANK YOU!) is a brand new Kia Sedona with just over 9,000 miles (actually, it now has 10117 thanks to us! The minivan is HUGE inside and it has given us A LOT of room to get it all in there. It is REALLY hard to pack enough stuff for a 1-2 week stay (since we don't know if Sasha's getting sick we have decided to pack extra in case we have to stay longer to wait out the sickness OR if things will go as planned). We have brought enough medicine to do 2 weeks worth of infusions - so we *should* be all set....
We've been having fun taking pictures along the way....
We stopped for lunch and ate outside...suddenly Will screamed his little head off like a girl - I nearly fell off the bench! Turns out a FLY landed on the table we were eating at (HOW DARE IT????). Then the dreaded Seagulls decided to join us. Will and Sasha were terrified of the the point where it was a bit absurd - and, to make matters worse, they got 'up close and personal' inviting themselves to 'join' us - which did not go over well. The kids made spectacles of themselves screaming in sheer terror about the "Eagles" (as they called them).
Needless to say....lunch took FOREVER because they were SO wrapped up in whether or not there were 'flies' or 'Eagles' that they couldn't focus on the food. (*note to self, outdoor picnics and my children do not blend well!)
SO...I'll leave you with a link to some pictures and we'll post a bit later with another update!

Thursday, March 5, 2009

A long week - but FINALLY things are in order!

On Monday we received a call from Dr. Shoffner's office saying that the fresh muscle biopsy and pathology referrals weren't in the BCBS (ins. co) system and they thought they'd have to reschedule the whole trip. I tried calling Blue Cross (BCBS)and they were CLOSED due to a stinkin snow storm - I was pretty worried that we weren't going to be able to go. I spent ALL of Tuesday on the phone between the PCP's office, Atlanta, our metabolic doc, and her case manager at BCBS trying to sort it out. It was looking less and less like we were going to be able to go to Atlanta. I think I cried more on Tuesday than I have in 3 years. I was so frustrated and I felt like I had let Sasha down when she really needed me most. I was devastated....and VERY angry that the insurance company was holding it up. We finally got word that they would approve the procedure and pathology - but the reviewing doc at BCBS said she was going to 'revoke' Dr. Shoffner's visit because Sasha can see 'neurogeneticists' up here - they won't pay for him if she can see someone up here. I totally freaked - because, to me, it showed that they weren't looking at the referral OR her case (she's been seeing a neurogeneticist for a year and a metabolics doc for 9 or so months and THEY are the ones referring her out to Dr. Shoffner). I called the case manager at BCBS and just lost it - I told her how NO doc wanted to touch Sasha with a 10 foot pole with all her diagnosises and the ones who WERE working with us were at a point where they couldn't do much more for her without Dr. Shoffner piecing this altogether. She reassured me and told me that she would do her best to fix this for us. I called several times that afternoon to see if the 'verbal' approval had 'hit' the system (so we could make the biopsy appointment) and also to see if they pulled the referral for Dr. Shoffner. Nothing......just the same as it was before....2 visits to see JUST Dr. Shoffner. I was beginning to get worried...time was running out.
Sasha's wheelchair arriving was the ONLY bright spot in that day. It fits her just right, she loves it and it doesn't have that 'wheelchair' look - it looks like a glorified stroller...which is exactly why we wanted this particular type (for those who are wondering - Sasha does not need this wheelchair on her 'good' days - these are times when she can run, jump, play and BE a normal child - - - on her BAD days - she struggles with simple things and has limited energy, and sometimes overexertion causes some pretty 'not fun' stuff to happen to her - so this will just help alleviate all of this and give her the ability to do all the stuff she wants to do without having to worry about limitations!).

So...Tuesday was a sleepless night for sure....
I called Wednesday morning twice to see if it 'hit' the system yet. On the second phone call, the rep I was speaking with told me that the review department told me to call back THURSDAY and it should be all set. I totally went bonkers and said that we didn't have an extra day...I told her that I was NOT getting off the phone and that THEY would push the written approval through NOW as we've been waiting for something since the 23rd and our appointment was in jeopardy. I went on to say (in a VERY loud and stern voice) that my husband would lose a week's pay (due to FMLA) and my kids have been out of school all week to keep them from getting ill AND our travel arrangements were also at anything other than an approval pushed through immediately would NOT be acceptable. The poor woman put me on hold and came back about 5 minutes later - and she put the clinical reviewer on - and TA-DAH! the referral JUST went through! THEN I spent ALL day waiting to see if the surgeon still had a slot for Sasha - which, they did!
SO....after countless tears and MUCH stress and frustration - I received a call around 4ish last night saying that we were ALL SET to go to Atlanta!!!

All in all I spent about 9 1/2 hours on the phone back and forth with everyone in the past 3 days - Of course, I truly thought we weren't going so I hadn't packed a darn thing! EEK!

Today I am going to start packing - but I have a million things to do - let alone meet with Sen. Fargo and 2 state reps in Boston with the kids to talk about legislative efforts for Mitochondrial Disease (talk about CRAZY huh!?!?).

After some deliberation, we decided to stay at our friends house on the way home (instead of staying there on our way down) - just to avoid any extra exposure to illness on the way down - so we're likely going to leave Saturday instead of Friday - which is good because it gives us more time to pack and get ready AND we won't be driving in CRAZY rush hour traffic...phew.

I'm not feeling fantastic today and haven't decided if I am getting sick (OH NO) or if it's from all the stress of the past 3 days.

I want to thank you all for your encouragement and hugs along the way...I am HOPEFUL that Dr. Shoffner will give us GOOD news and tell us that he doesn't think it's Mitochondrial Disease....but we are prepared for anything that he has to say. PRAYING for the best!
We will update frequently while on the road and be uploading pictures to our blog (which will be updated more frequently than this with pics and little stories) - if you want to follow along there -
Please pray for safe travels, good health, a good appointment and a smoothe fresh muscle biopsy and recovery for Sasha.
Stefani and Ralph

Sunday, March 1, 2009

A little update....

Nothing fancy or creative in this post - just an update on what lies ahead!!! this week was CRAZY. Sasha is FINALLY looking better - it only has taken 3 1/2 weeks! Last week she looked terrible - she was pale and she was really wiped out the whole week - it was tough for her.

Both Will and Sasha's doses for their Vivaglobin (sub-q infusions) were increased because of all the breakthrough infections they were getting. We got the shipment Friday and they will infuse Tuesday with the new amount. The immunologist also put Sasha on a daily antibiotic (that she will start as soon as she's done her 21 day course of Augmentin) because he's not happy with all the break through infections she's getting and he wants to give her system a rest.
Will is doing MUCH better and he's just the sweetest little cherub!

We were getting things ready for the trip. Last week was all about finishing up recording for Project: Cure (which is coming along nicely, thanks to all of Mark's hard work!) so that Mark could do his part without me holding it up!
Check out the 'teaser' song for Project: Cure at:
(that's my song!!! Mark did an AWESOME job mixing and mastering this!)
The Project: Cure website is under construction but the URL is and, once it's fully up and running I will post it 'officially.'
SO...we did hit a BIG snag last week....
Our plan was to take our tax return (we usually get a big return because we claim 0 and have more taken out throughout the year) we were going to take our return and purchase a used vehicle that would be reliable enough to get us to GA as we felt our minivan would NOT be a great choice. I realized on Wednesday that it hadn't come yet (state had come but not federal) so I called the IRS - turns out there was a 'processing error' on their end and it was going to delay our taxes 3 weeks! WHAT?????
Seriously? SO, I explained to them that we were counting on the money from our tax return to cover not only the expenses to get down there but also another vehicle. They put us into the Taxpayer Advocate Office and they were going to try to expedite this so we MIGHT get it the day we leave...MIGHT.
I was starting to freak out a bit....
I called a friend who said he'd do what he could to help....he called in a favor and I received a phone call Friday that a car rental place in our area was going to let us use a minivan rental FOR FREE to get us to and from GA.....HOW AMAZING IS THAT.....and to our friend....if you're reading this....THANK YOU FROM THE BOTTOM OF OUR HEARTS!!!!

It SO relieved the stress of figuring out 'Plan B' (since we didn't have one....sigh).
I swear that Murphy's Law has a bulls-eye right on our family.....if it CAN happen - it happens to us.

Truth be told....I kept thinking of the bible passage that states that God never promises you a life free from strife because you believe and follow Him - but He promises that He will be there and He will guide you through this...and every time things seem to be down and out....we always get a 'life-line' ---- always re-confirming that passage.

Ralph and I went shopping last night to get the rest of our stuff for the trip (thank GOD we did because we're forecasted to get 15+ inches of snow between tonight and tomorrow night/early Tues a.m.).

Next week will be CRAZY!
I will be packing and cleaning (so that when we get home the house is CLEAN and we can 'decompress' without having to do much of anything!) today, Mon & Tues while Will and Sasha have their cousin over for today and tomorrow to help pass the time!

Tuesday Sasha's wheelchair/stroller arrives!!!! She will be fitted in it and they'll show us how it all works - so we WILL have it in time for the trip!!!!! PHEW!

Wednesday we have a meeting with the school to talk about doing some type of Primary Immuonodeficiency Disease (PIDD) awareness with Will's class for some time in April. We are very excited about doing this because we know it's a part of Will's life that we want his peers to share an accept without fear. Later in the afternoon I have an appointment with another family member in Boston - she will be seeing Sasha's neurogeneticist and hopefully hearing her story and her issues will help the doctor to see Sasha's picture and our entire family picture more clearly.

Thursday will be busy! As of right now I am tentatively scheduled to meet with Sen. Fargo and Rep. Atkins at the state house to discuss the legislation that is going to be up for vote soon - it will put more funding in for research for a cure/treatments for Mitochondrial Disease. I also have another appointment in the day as well - so hopefully all will go as planned. I sent out letters to 10 legislators on Friday (at 7 a.m. lol...yes, this is what I do with my time when I can't sleep and the kids are still sleeping!) and I got those 2 responses immediately!

EARLY Friday we will be leaving! We will be doing a little blog journal along the way - taking pictures and telling stories of our trip down - I can connect to the internet with my laptop and my cell cool is that!!! We're stopping in NC to stay with a friend (what a blessing that is) for 2 days and then we'll be heading into Atlanta for the 9th - we'll be staying at my cousin's house (another blessing!)while we're there. Sasha's appointment is on the 10th and the Fresh Muscle Biopsy is on the 11th. We will stay as long as it takes her to be ready to travel back home.

It will be a long journey...but we hope that the beginning will at least be FUN for the kids ---- when we arrive in Atlanta - it will be different...but there's no reason the way down can't be all fun and games!!!!! We're going to make the best out of this time.....

To the people who helped make this trip possible (whether it be lodging or transportation) THANK YOU FROM THE BOTTOM OF OUR HEARTS!!!!!! You can't even begin to understand how much it means to us. We TRULY are blessed!

Okay....I'm off to do some more cleaning and packing while there's still time!!!!!
Please pray that everyone stays well and that things continue to fall into place so this trip can go off without a hitch!!!!!
We'll keep you posted!!!!
Stefani and Ralph