Show Your Hope!

Imagine a life in which THIS….

and THIS…

is the norm.

Imagine having only a week or two (sometimes days) between illnesses

Imagine countless birthday parties, holidays, family engagements, special moments all missed due to illness…

Imagine that even the most incredible adventures could pose risk…

Well, these 2 precious children and thousands of others don’t have to imagine any of this….they live it every day due to a condition called Primary Immunodeficiency Disease.
What is Primary Immunodeficiency Disease you ask?????

Primary immunodeficiency diseases (PI) are a group of genetic diseases in which the immune system’s ability to fight off infection is greatly reduced or absent. These problems lead to an increased susceptibility to infection. There are more than 150 different types of PI.  In the United States, there are approximately 250,000 people diagnosed with PI and thousands more go undetected, in fact, the NIH estimates 500,000 people may have PI and have not yet been diagnosed.

According to recent studies, it takes an average of 12 years from onset of symptoms to date of diagnosis.  That’s 12 years in which treatment is delayed, illnesses aren’t carefully monitored or  managed, and infections can take deeper root causing permanent damage to the organs in which they affect.

There are so many reasons that this statistic is unacceptable – but the most important reason it’s unacceptable is because there are people suffering unnecessarily due to lack of understanding, education, and awareness about this disease.

April was Primary Immunodeficiency Disease Awareness Month, unfortunately, life in April was quite busy for me and this post got lost in the shuffle….but, it’s better late than never. The way I look at it…every day should be a day that awareness should be raised for this cause – and all the other causes that need a voice.

Ralph and I have dedicated ourselves to raising awareness for this disease since 2007 – to be the voice for our children, others in our family, the people we know, the people we have met, and even for the people we have yet to meet.  When we first learned of this disease, it was all about Will and Sasha – but then our horizon changed when we met some incredible people and suddenly, it wasn’t just about Will and Sasha anymore – it was about SO much more than us helping the kids – it was about changing lives, making a difference, and being a voice.

This journey, this life, this moment – is a complete blessing no matter how hard the road – we all have the power to be the voice of change, the voice of reason, the voice of comfort, the voice of hope.

I do it for THIS:

Because THIS is what life should be about:

And THIS…

Not THIS:

or THIS:

Today, I challenge you ALL to take a moment and ‘Be A Voice‘ for those with Primary Immunodeficiency Disease (PI).

There are many ways you can do this:

• You can donate Plasma!  Find out if there is a Plasma Donation center near you — these donations directly help those who suffer with PIDD.

• You can Donate Blood.  Some areas do not have Plasma Donation Centers, but rest assured, some gammaglobulin products are made with the help of blood donors from the Red Cross

• You can become a Bone Marrow Donor — Bone marrow transplants are the only hope for children suffering the most serious and life-threatening PI’s.

• You can donate Umbilical Cord Blood — a great way to help stem cell research, the best hope for a true cure for PIDD.

• You can spread the word by sharing the Immune Deficiency Foundation’s website.

• You can run a fundraiser to benefit the Immune Deficiency Foundation (it’s really easier than you think and IDF will help you every step of the way!)

• You can help raise awareness by talking about it with your community or hosting a booth or table at a community event with literature about the disease (the IDF will give you all you need!).

• Talk about those you know who live with Primary Immunodeficency Disease (like Will and Sasha).  You never know, you may help someone find an answer to a lifetime of unexplained illness.

• You can write your Congressman and Senator to protect access to IVIG, a life-saving therapy for many PIDD patients.  Due to reduced Medicare reimbursement rates, some patients are unable to get their IVIG.  Unless laws are changed, private insurers could follow Medicare’s lead.  Visit the IDF Action Alert page to send your letters today!

• You can use Good Search when you surf the internet!  This is an easy way to raise money for the IDF . . . simply choose the Immune Deficiency Foundation as your beneficiary, and every time you use their search engine, IDF will receive a small donation.

There is SO MUCH you CAN do…and EVERY gesture you make, EVERY action you take MATTERS more than you will ever know.

I will leave you with this poem I wrote back in 2007:

Be the Voice

I’ve been down this road
With the wind at my face
I’ve tried to be brave
And keep with the pace
Sometimes full speed
Is really reverse
And sometimes the blessing
Is also a curse
Sometimes our weakness
Becomes a great strength
Sometimes we struggle
To go a short length
Sometimes it’s scary
And you feel so alone
Sometimes you wish
That your heart had a home
In a world where normal
Is never the norm
You’ll find your peace
In the midst of this storm
You’ll find your courage
To hold your head high
You’ll find the strength
To look up to the sky
You’ll find the wisdom
To make the right choice
You’ll find the spirit
To be the voice

©HRM2015

The ball is in your court…it’s your move!

Love and Light,

Stefani

Just when you thought it was safe to breathe easy….you get the wind knocked out of you!

Aside from  a short hospitalization at the end of March (due to a GI bug), things had been going really well up until 2 days ago.  I had been enjoying relative stability and I even was able to ‘officially’ be discharged from the home nursing agency that I have had since January of 2011.  It was a good feeling to make progress.  I even began to get the house organized – a complete purging, and it felt awesome.  I guess I might have been a bit delusional thinking that ‘normalcy’ was within my reach – and what a sucker punch it was when reality ripped that thought from my grasp.

Monday morning I woke up feeling pretty crummy.  I couldn’t quite put my finger on it other than nausea, headache and spasms in my jaw, but I knew something was off.  I had an appointment with my primary care doctor to have stitches removed from my finger (I lacerated it the week prior and had to get 4 stitches), so I discussed it with her at that point.  She ordered lab work and I went on my merry way. The rest of the night was really rough.  I began to have burning and twitching as well as spasms all over my body,the nausea, headache and jaw spasms worsened.  I was unable to eat or drink, think clearly, and I could not sleep. Sasha was supposed to have an early morning appointment with the airway management clinic – but I canceled it (which I *never* do – but I was just in no shape to go anywhere).  I was up and said goodbye to the kids – and, as soon as Ralph returned, I told him we had to go to the hospital.  My heart rate was high, I was having palpitations and was disoriented.  I knew that it was not good.

Apparently by the time I got to MGH, I looked as rough as I felt because I have never been moved through triage, registration, 2 doctors waiting for me in the back, IV nurses dueling IV sticks, more than 15 vials of blood, a chest x ray, and a CT scan all done and admission decided within 2 hours – a room within 4 hours.  I found myself on Bigelow 9 – and the staff was ready and waiting for me (I think there were about 5 people in room).  They are definitely a well oiled machine here compared to other floors I’ve been on.

My lab tests were off and my lactic acid was elevated, which was no surprise to me as the muscles in my body were on fire.  They attempted to run 2 IV’s at once, but I just couldn’t tolerate it and then the 2nd IV blew, so I currently have only one (which was fine with me as it was quite evident that I am not very graceful navigating an IV in the left arm, right hand, heart monitor leads, and a pulse oximiter lead).

Ironically, my sister was just down the hall in another unit on the same floor and Chelsea (my sister by spirit!) was in the same wing down the hall but one floor up.  Talk about timing….

I had an EEG this morning.

There was no evidence of seizure activity (yay) but there was some ‘left to right variance’ – which can be normal or it can mean that there has been a structural change (not yay) – so I am going for a CT scan of the brain soon.  I am trying not to freak out, but given the intense headaches and thee change in how I’ve been feeling over the past month or two – it does worry me some.  😦

Beast was really on point as he was pretty much on top top of me through the worst of it (he is not typically the type of dog to ‘snuggle’ – so if he lays on top of you for more than a minute or two, he’s telling you something is wrong.

Ralph, of course was amazing – he stayed by my side the entire time and was so good to me (as usual).

My Dad came to the rescue (as usual) and picked up the kids from school and then he, my mom and aunt took care of them, got them their night meds and put them to bed.

I had several friends offer to help – yes, these people rock!

I had countless messages and posts offering prayers and support – yep, these people are totally fantastic.

While this unexpected and rapid onset crisis was a huge sucker punch that knocked the wind out of me – my friends and immediate family breathed the HOPE right back into me.  I can’t even begin to express how incredibly blessed I feel to have people like this in my life.

In any event, this gives me an opportunity to finish 2 posts that I had started but not finished (because I was busy catching up on ‘life’ and getting organized!)…so stay tuned….there’ll be another post likely tomorrow!!!!!!

Thank you again for all your prayers, love, support, and kindness.  I am truly blessed.

Love and Light,

Stefani

FREEDOM…it’s a word that is often taken for granted.  It’s a word full of incredible possibilities.  It’s a word that holds so much promise. It’s a word that, to some is always just beyond their reach.

This weekend, our family got to witness FREEDOM in it’s essence.  We experienced FREEDOM in our own way….and we were surrounded by many others who were basking in the joy of that sweet, sweet FREEDOM.

You see, this weekend, our family participated in the Metabolic Family Weekend at Paul Newman’s “Hole in the Wall Gang Camp” in CT.  Paul founded this camp based on his passion for giving children and families with serious illnesses a place to enjoy FREEDOM in a safe and fun environment.  I have had many friends attend this camp (and rave about this camp), but our family has never attended…until now.

It seemed like the stars all fell in line this past week.  For the first time in a year and a half everyone was well and my body was not in crisis.  For those who have been following along, it’s been a rough go…with one thing after another – so we knew that it was simply, ‘meant to be’ when we got the call that we were accepted into the camp for the family weekend.  Despite my apprehension over being far away from all our medical safety nets, we put both feet forward and took a leap of faith, and boy am I so glad we did!

The week leading up to camp was school vacation, and we took full advantage of the fact that things were going so well for all of us (minus a mini cold for Sasha) and we had 2 mini birthday parties,

We went to the circus…

The Zoo…

We ventured the farm,

Took our first trip together as a family on the Train…

Explored the Museum of Science…(details for all of that in a later post!)

And ended our week with camp.  To say that this has been the week that our family SO desperately needed is beyond an understatement.  I can’t even begin to tell you how thankful I am that we were given the blessing of good health all at the same time so we could – for the first time in years – truly ENJOY a school vacation with the kids!

What was so special about this weekend was that every family that attended this camp was on the same road that we were….uncertainty, struggle, medical adversity, heartache, the loss of predictability (missed birthdays, holidays, special events due to medical crisis or the fact that traveling with medical challenges was too difficult), strength, resilience, courage, humility, and HOPE.  We were surrounded by people that ‘Got It‘ in a way that most around us just can’t….not for lack of trying or lack of desire to understand – but because they don’t live it.  I can’t even begin to tell you how inspiring and uplifting it was to feel SO FREE and SO SAFE to be SO FREE.

Our day on Friday was a flurry of packing and getting ready for the weekend.  We packed our stuff, the kids and Beast in the car and departed a little after 4:30.  The kids had NO idea where we were headed….which made it all the more exciting for us (and them)! We hit a bit of traffic on the way there (rush hour on a Friday….of course) and ended up arriving late.  Will’s initial response when he learned we were at ‘Camp’ was “No way, I’m NOT sleeping here!!!!” – it was awful comical.  Sasha was excited but in all reality, she likely had no idea what “Camp” meant.

We were introduced to our “Family Pal” Lindsay – she was our ‘shadow’ all weekend and helped our family get around camp and also helped take care of the kids and watch over them – which also gave Ralph and I a little extra breathing room (very unexpected but welcome!).  She was absolutely fantastic and the kids adored her!

We headed into the dining hall and joined in on the festivities that were already taking place, and I ran into 3 of my friends (Nancy, Andy, and Karen) almost immediately!  We then were introduced to the Camp, the schedule for the evening, and we learned a few “Camp” past times….like – shaking your “Bushy Tail” if you go in the wrong door for the dining hall (there’s one side for ‘in’ and one side for ‘out’ – and if you get caught going in the wrong way, you have to sing along with a song and do a dance (Shake your Bushy Tail!) with all the others who have done so).  It’s pretty cute and the kids got a kick out of it.

We had an indoor ‘camp fire’ and then headed back to our cabins to meet our ‘Cabin Mates’ and get some rest…Saturday was going to be a busy day!

Our “Cabin Mates” were from Ohio and we hit it off right away.  They had a boy and a girl – the boy was Sasha’s age and the girl was Will’s age.  A perfect match for us!

We headed into our room – the kids were stoked – it was full of 4 bunk beds and 2 stand alone beds.  Of course, both kids wanted to be on the top bunks!  We attempted to put the kids to bed around 10….and, from 10 p.m. until almost midnight, we proceeded to go back and forth with the kids about going to sleep.  Will was wired for sound and Sasha was annoyed at her brother’s constant gabbing and her sudden onset of constant coughing.  Finally, both drifted off to sleep – although Ralph and I got very little sleep – Sasha’s coughing kept me up (I was in the bed next to hers) and Will’s wiggle worming and yapping in his sleep kept Ralph up (who, for reasons STILL unknown to me – picked the bed BELOW Will!!!!)

Will woke up bright and early asking if it was time to get up….OYE…..not even close kid!!!!!

After a tummy stuffing breakfast, Sasha and Lindsay headed out to Arts and Crafts and then down to the Tower – at which time she attempted to climb up the steepest rock climbing wall (30 feet straight up)…and, apparently did pretty well….until she looked down and panicked! Will went with Ralph to the wood working shop and built a bird house…they were very intensely involved in that! I ended up catching up with an old friend and then heading over to watch some of the campers record some pretty amazing music in the recording studio.  After that, we all met back up and got ready for lunch.

Just before lunch, we got a special treat from a local Glee Club – which Sasha really enjoyed.  After that was over, we headed over to the dining hall for lunch.  When lunch was done, we all participated in lots of singing, dancing, and silliness.  Sasha was clearly in her element….

We then had a quiet hour.  Lindsay hung out with the kids and Ralph and I attended a parent group – which was a really great way to get to have some time with the parents, I wish that more had been there as it was so neat to meet so many people from so many different places!

After quiet hour, we headed down to the docks and did a little fishing.

This was clearly a HUGE hit with BOTH kids!  Sasha was in LOVE with all the ‘bait’ fishies (as she called them)….and she was dubbed the ‘bait whisperer‘ as she could reach into that bin (quite fearlessly) and yank out a fish in no time flat!

Both kids were brimming with excitement as they caught their first fish…and then the second….and even when others were catching fish. It was so cool to see the joy just take over and see them light up over something as simple as ‘fishing.’  It was pure FREEDOM!

We headed over to the ‘Tower’ at 3:45 to climb the rock wall and do the zip line.

I was SO excited for this part of the day.  It was the ONE thing I had vowed we would all do – even if we were scared to do it.  I wanted us to learn to move past our fears and experience new things….and give them a chance to grow on us and open new doors for us.  I have always wanted to do rock climbing but have never done it…and I have ALWAYS wanted to go down a zip line…even though I am pretty scared of heights!

Ralph went up first (and he dominated the rock climbing wall – zipping up it like it was a little tiny hill!),

Sasha was ‘flown’ up (pulled straight up to the top) – which I was okay with because she attempted the wall earlier in the day.

 And Will was her anchor….so sweet!

All while Beast, Dr. Fun (That’s what I called him anyway!), and my friend’s 2 sons (and a staffer) watched on.

She and Ralph were tethered together and zipped down the hill at lightening speed. Sasha was pretty petrified at first, but – towards the end, she was enjoying it.

Will went up next (though he initially did NOT want to climb the wall – but, with a little encouragement from me and the other kids and parents, he attempted it and was successful!

Next up was me….I hadn’t been feeling 100%, but I wasn’t going to let that stop me – I was SO excited to give this a try.  I was suited up and then went over the cues (boost = I need a little help to get to the next foot hold and ‘elevator’ means I was all done climbing and needed to be ‘flown’ up).

I looked up at the wall, took a deep breath and began climbing.

It felt so natural to me….I just focused on the grips and kept going.

About 3/4 of the way up, I started feeling really crummy – but I wasn’t about to stop…..nope, I am a glutton for punishment!

I made it to the top nearly as fast as Ralph did (surprising me AND everyone else) – and, as soon as I hit the top, I started feeling terrible.

At the top, I couldn’t do anything but lay flat.  Will was kneeling over me asking if I was okay and I couldn’t even talk – but I wanted him to not be afraid, so I gave him a thumbs up and just tried to breathe through it…knowing I was on the verge of a full on out crisis.

After 10 or so minutes, I realized it wasn’t going to pass anytime soon, so I sat up – gave a very worried Ralph a wave to show him I was hanging in there….had them tether me to Will and we zipped down.

It was AWESOME…but I truly wish that I had let them just ‘fly’ me up so I could REALLY have enjoyed that ride down.

When I reached the bottom of the zip line there were 3 nurses waiting for me, and apparently I looked as bad as I felt – despite me trying to smile through it so Will wouldn’t worry.  I don’t remember much – I just remember one of them asking me if I was okay and I couldn’t even talk – I just shook my head ‘no.’  I believe, at one point, there were 2 of the doctors and 3 of the nurses with me (though it’s all pretty fuzzy) and I was just so nauseous, dizzy, disoriented, short of breath, and confused that all I could do was just lay there….I wasn’t much help.  Thankfully, Ralph made his way over to me and he was able to tell them that it was likely my preload failure, the rapid stress on the body and – compounding it all – was the fact that I was also very cold – which I do not physically handle well at all.  Ralph suggested they take me back to the cabin and put me in the bathroom (it was a sauna in there!) to warm me up…so that’s just what we did. I can’t say enough about how awesome the staff was getting me through the crisis and how willing they were to take the kids so Ralph could stay with me and neither of us would feel rushed into doing something my body wasn’t ready to do.  Dr. Kelly, Alix, and Juli were fantastic and cool as cucumbers despite everything and Juli stayed behind once I started feeling like the worst had passed.  After about 2 1/2 hours or so, I could think clearly, talk clearly, walk pretty well, and the shortness of breath and nausea was much better. I told Ralph it was time for us to go rejoin the group so the kids could enjoy the ‘Carnival’ – so off we went.  On the way up to the Carnival, Ralph said to me, “Well, I was really nervous about how they’d handle Will and his medical issues if something came up, but after seeing how well they handled you, I KNOW that they will do just fine with Will.  I actually feel a whole lot better because of what happened this afternoon….sorry you had to go through that, but seeing them in action really put my mind at ease.”  Honestly, I have to agree 100% – these people are amazing when it comes to knowing what to do in a crisis!

After the ‘Carnival’ we headed back to our cabin and hung out with our cabin mates from Ohio….they were awesome! The kids played with their Team Pal, Lindsay for a while the adults chatted.  Sasha had been coughing a little bit and we didn’t want a repeat of the night before, so 2 nurses came down and phoned in to the doctor on site and they got the order to give her a breathing treatment.  We are SO glad that we did it this way because it really did help.  She only woke me once in the middle of the night coughing!

Sunday was our final day at camp.  We woke to a dreary, damp and cool day…and heavy rain was in the forecast.  We made our way to the dining hall and the kids enjoyed a yummy breakfast.

After breakfast was over, Sasha and Will both stated that they wanted to go fishing again.  Had it been warmer or not as damp, I wouldn’t have cringed so much as the boat docks were a lot of fun….BUT…this wasn’t about ME or my level of warmth, this was about the kids having fun and having fun with US….so, I bundled up like an eskimo and we headed on down.

Sasha rushed to the bait cooler (of course) and dove hands first into the freezing water and instantly pulled up a shiner asking who needed a bait fish.  It was so cute!

Will was ready to get down to business and catch “Weepie”

Will got a bite on his line…and they reeled it in as fast as they could…but it got away!

 Sasha caught her own big fish….

Will got another bite on his line and you could tell the fish was gigantic because it nearly bent the pole in half!  As it got closer, you could see how huge the fish was – and it was SO big that it snapped the line!

Will vowed not to leave until he caught a big fish…maybe even the one that broke his line (maybe it was Weepie???!?!)
Finally, another bite!  Everyone cheered on Will as he reeled it in and McGee (the Boat Dock Warden) bent over to scoop it up in the net.  As he did so, he lost his footing (the fish was heavy!) and started to go overboard!  Thankfully, Ralph was right next to him and grabbed the back of his life jacket and pulled him back over the edge!

Everyone cheered and Will got to pose in front of his BIG fish!

Even Beast got in on the action…..

He was quite unsure what all these things with fins were….

But after a tail slap in the face…he was happy just looking on.

The kids said goodbye to their favorite Boat Dock Warden and we headed up to the Wood Shop/Arts and Crafts cabins so the kids could finish the projects they had started the day before.  Thankfully the rain held off until we got inside…then it poured!

Will finished up his bird house that he built from scratch with Ralph…

And Sasha made me a beautiful Duct Tape Flower (that I know our good friend Rachael will be SO proud of!).

We headed over for lunch at the dining hall and closed the weekend out with some music and silliness.

The kids got to say their goodbyes to the staffers…

And they got pictures with their 2 favorite Pals…
Ben:

And Lindsay:

Sasha was very sad to leave the camp, and Will was pumped to return in the Summer.

As we drove away from the Hole in the Wall Gang Camp, I reflected upon the one continuous thread for the entire weekend….FREEDOM.

You see…every single family that went to that camp got an entire weekend to be FREE to forget the tough times and create joyful times in a safe and fun environment.

We all had the blessing and the opportunity to shed our medical shells that we have built our worlds around (out of necessity) and find FREEDOM in letting go….knowing that we all had a safety net to catch us…which gave us permission to find laughter and wonder in the most unsuspecting places.

We were surrounded by 21 other families walking a similar journey as ours…and that gave us the FREEDOM to just ‘be’ – without fear of judgment, questions, or strange looks.

It truly was a weekend that was just as much FREEING as it was HEALING – not just for our family, but for all the families there.

Will and Sasha came to the Hole in the Wall Gang Camp with their own assumptions about who they were, what they could and couldn’t do, and they had fears about things that Ralph and I alone couldn’t rationalize out of them…but the camp, the staff at the camp, the families at the camp, the experiences they had at camp, and us being together at camp taught them that, even though they had a lot of things they weren’t able to do…there was SO MUCH that they COULD do – and you could see them shed all their fears and expectations away layer by layer and the FREEDOM that clothed them as awe inspiring.  It was truly priceless.

FREEDOM is a beautiful thing…and something that should be cherished, nurtured, appreciated, and shared.

This weekend, our FREEDOM was rekindled…and words truly cannot even begin to express our gratitude for the opportunity that we were given by the Hole in the Wall Gang Camp, their staff, and the families that we met there.

To see ALL the pictures from our AWESOME weekend – click HERE

Love and Light,

Stefani

*The Hole in the Wall Gang Camp is a non-profit organization that provides individuals and families the opportunity to go to camp at no cost.  If you would like to make a donation to this incredible organization to help them continue their mission, please click HERE.