Another Milestone - First Day of School

When you have a child, you always try to envision their future. You want to protect them, guide them, love them and watch them hit those key milestones and see how they grow.

When Max was born, we had so many of those same hopes and dreams that never came to fruition...it wasn't a part of his plan. But after all of the grieving, coping, and change that has been presented to us...we are in a "new normal" phase of life as a family. It is hard to swallow that this is the new normal for us but our family unit has turned into a group of 3. Emma continues to play the "only child role" in a weird sense and we've adjusted the best we can. However sometimes, the reminder that Max is gone still just jumps out at key times in life.....that Max has moved on and is no longer a part of our earthly family unit.

It hit me hard yesterday and especially this morning...Max would have been in kindergarten this year.  He would be at a new school, making friends, learning new academic and life lessons and Josiah and I would be going to the "Boo Hoo" breakfast thinking that our last child was entering school. It makes me wonder how he'd do, what teacher he'd have, what challenges he'd face.

I walked Emma into school this morning with Josiah and held her hand a little longer, took a few more pictures...just grasping for anything to help slow down time and allow me to enjoy my little girl a little longer. It is the last first day of this grade for us...but it shouldn't be. Emma and I chatted about Max last night before school and she said how she wished she still had a brother and it isn't fair that all of her friends have siblings. I just held her tight, got tears in her eyes and reminded her that she is always a "sister". She always will have a "brother" even if he's not here anymore. But it is so hard for her to grasp this. She was only 4 when he passed away and has more and more trouble remembering our events/memories. I know she longs for a sibling in such a strong way. She showed him so much compassion when he was here that I know she longs to share her life and stories and experiences with a sibling again.

I was also caught off guard last week. We got to enjoy a family Disneyland trip together...something we got to do twice with Max and as a family unit of 4. We continue to cherish those memories. Emma really wanted to see the show "Turtle Talk with Crush" where the turtle from Finding Nemo asks the audience questions and has a really fun interaction with the audience throughout the show. I told Emma she should think of a great question and raise her hand to ask Crush. She was being shy and decided that she didn't want to ask anything. However "Crush" called her out in the front row and started interacting with her - what a special experience for her and she was super excited. He referred to her as Epic Emma (how fitting for her). Then he asked her where her "parent figure" was, and it was my turn. He asked me if I had any other kids other than Emma....I froze....that is always the dreaded question I fear. I wanted to scream to the rooftops that, "Yes, I had an amazing son named Max who loved his sister and smiled and laughed and experienced so much but was taken away too soon by a dreadful and evil disease called Krabbe." And I usually answer this way (in a lesser tone) in most one-on-one conversations....but all that came out was, "No Emma's my only one".........."new earthly normal".....I hate myself for answering that way. Crush then went on to say - "Oh you are only starting"...and I wanted to say..."If you only knew" but instead I just shook my head and the show went on. It wasn't the time or place for that comment and it was easier in the moment....but after the show I talked with my sister in law and mother in law and just felt awful that I answered in that way. I know it was a loaded question but the character had no idea that this was the case. I tried to handle it the best way I could in a giant group setting, but it still bothers me. I never want to forget Max and I love him as much as I did the day he was born - but sometimes you get put on the spot and the wrong words leave your mouth.  Josiah reassured me that it was a relatively normal question that they probably ask every show, but it still bothers me. The question really made me miss Max but really put a pit in my stomach because I didn't just simply respond..."Yes, I have 2."

These milestones and moments that catch me off guard are so hard. Sometimes they come out of nowhere and sometimes I know they are ahead. I continue to navigate the best I know how. In some way...I feel that it is Max's way of reminding me that he is still around me and it helps me to think of him, love him, and long for him.

It is so easy to get caught up in the day to day and the routines. Programs like HopeKids, which we are still involved with, help us continue to remember those fun times and allow us to talk about him and think about him when we attend these events.

On this first day of school, I'm going to ask Emma how her day was and enjoy every word that she tells me because I'll only be imagining what Max's first day could have been.
No matter how hard each day is with your children, cherish them. They grow up too quickly and they have a lot to say...they can teach you so much. Enjoy them and love them.

~Allison

A letter to Max on your 5th Birthday

Dear Max,

Today would have been your fifth birthday here on Earth. You would have been graduating preschool and entering into kindergarten this year. It is hard to imagine you as a 5 year old - I only knew you as a 2 1/2 year old. I wonder how your personality would have changed and what your interests would have been. I know that you would still be following your sister everywhere and enjoying each other's company.

Emma has had a hard year without you. She's brought you up many times and told me that you came to her in a dream. Thanks for visiting. We've had some emotional moments that we've worked through with Emma this past year. She tells me that she gets mad at herself for not remembering you when she is at school or playing tennis, or even some of the past events we got to do together. Thank goodness for our pictures that help us retain and remember those wonderful memories with you. The one organization who has continued to help remind her of you is  HopeKids, who didn't turn us away when you had to leave, but rather embraced our family and has continued to support us. Every time we get to go to an event - we talk about you in some way or remember you. I am so grateful for them and what they continue to offer to our family. We have met and continue to meet such amazing families and people who volunteer their time, fund raise and support families who really need it. And we give back too. Emma even helps raise money each year with her lemonade stand (that she loves to set up with her friends and neighbors who continue to think of and honor you). Emma says she needs to cry every time she thinks of you but I'm trying to encourage her to smile. I can't always follow my own advice but the thought of you fills my heart. I miss you so much and always will.

I don't see as many butterflies anymore but maybe we are beyond that phase. I do think of you through music and have some mornings where I cry my way to work just remembering you through the lyrics of a song and then I pull myself together and move forward with the day - you would have wanted me to. I heard a song the other day that I needed to hear. It helped me resonate with missing you but also reminded me that you were here for a reason - a reason that I needed you...a reason we all needed you. You helped me learn and prioritize a lot in my life. While I wish every moment of every day that I still had you with me, I thank you for those lessons and for helping me while you were here.

The song is "Broken Halos"by Chris Stapleton. The song was inspired by people who passed away before their time. When these lyrics come up in the song, I always think of you and my eyes tear up. You taught me so much and in thinking about our time together, you continue to remind me of those lessons.

Seen my share of broken halos
Folded wings that used to fly
They've all gone wherever they go
Broken halos that used to shine

Angels come down from the heavens
Just to help us on our way
Come to teach us, then they leave us
And they find some other soul to save

It was funny because when this song came on, it immediately became a gift from you...your dad played Chris Stapleton on and off for the month that we were in the hospital with you over your birthday...when you turned two...and fought so hard to be with us a few more months - thank you. Dad is good - but he misses you too. I know he often wonders what you would be like today.

Emma's idea this year was to celebrate your 5th birthday at the local Butterfly Experience because that was one of her favorite memories with you. You both had butterflies land on you while you were there - and we had a really good day at that event...this time will be different but we are all looking forward to going. It made it really special coming from Emma.

The painting of you that is in the Beyond the Diagnosis exhibit continues to travel the country. It will be at the Albert Einstein College of Medicine in New York February 11th - March 15th. I know the spirit of the painting will help influence and move people who can make a difference. This painting is such a living gift of you and I'm so grateful that this continues to be a part of our world.

Thank you for finding a way to reach us and live on through us. I need your help some days to make that happen but somehow your spirit touches me and I find a way. I know that Emma's day off from school today (on your birthday, in the middle of a random week in February) is not a fluke...there are too many of these coincidences that you continue to have a hand on. I just know it.

We miss you every day and can't wait until our spirits reunite one day. Until then...we live in the moment and know we are one day closer.

We love you, Max.

Happy 5th Birthday to my favorite boy.

Love,
Mom

Wishes Really Do Come True

Not every wish comes true - especially one that is just never going to be possible. But to find joy in the little wins, achievements and opportunities is wonderful. Every year for Max's birthday we've celebrated him...both on Earth and in a Spiritual sense. It allows us to honor his little life and celebrate what he brought to us. We've all been thinking of him lately and have been talking about him - his presence is just so strong.

Max would have been 4 this coming Tuesday. Wow - 4! I often wonder what he'd would look like. How he'd sound. What his hobbies would be. Would he like sports? Would he still like music and dance parties? Would he want to be doing everything his sister was doing? I wonder if he would like preschool and what would his favorite subjects would be. I think about how he'd be chasing after our big puppy or getting into trouble by exploring. I wonder how many friends he'd have. I wonder what he'd like to eat and what he'd be picky about. I wonder if he would still like to snuggle with his mom or dad at the end of the night now that he'd be getting older...or if he would be "too big for that".

Original photo of Max

Beautiful watercolor painting in the Beyond the Diagnosis Art Exhibit

Some days I get lost in thought thinking of these amazing things and wondering about what today would be like if Krabbe had never entered our world. OR what it would be like if we had known when Max was born, through newborn screening, that he had Krabbe...and what that may have meant in saving his life and allowing him to experience some of these things today.

Unfortunately it isn't our reality. Today we can only celebrate the memory of Max. I celebrate the two and a half years that I had with him here on Earth. I keep clinging on to messages, pictures and memories that I have. No new ones to be made with Max - it is hard. Every day is hard. But every day I have to choose to move ahead and acknowledge his presence but try my best to live in the moment...live for today. It just makes it harder when the physical presence of your loved one is absent...especially your child.

But one of the most amazing things that came out of all of this, is that Max was chosen to be included in the Beyond the Diagnosis Art Exhibit that is sponsored by the Rare Disease United Foundation. It highlights children with rare diseases. It looks beyond the disease and shows the spirit of each child through art. Art can speak so boldly and loudly, and reach and move people in ways that words can't even come close. It can leave a lasting impression and make an impact. This beautiful exhibit rotates in and out of universities and medical buildings all across the country in hopes to touch and educate medical professionals and decision makers who really can make a difference in the rare community.

My wish has been to see the painting. It so beautifully captures Max's spirit when I've seen the painting in pictures and to see it in person was something that I put on my bucket list. Unfortunately most of these influential locations are on the east coast and we haven't had the opportunity to venture out that far. Maybe someday... 

Then my wish.....my ONE wish came true. We got notified that Max's painting will be included in the exhibit which will be featured at the World Conference for Lysosomal Storage Disorders on the west coast - 5-6 hours away by car. AND it is the week of his birthday. We are going and I can't wait to see it for the first time. I'm not sure what my reaction will be. It is the next best thing other than being with him at this point...so I imagine it will be amazing for me and probably very emotional - in a wonderful sense.

Thanks, Max for this beautiful gift. We love you. Happy birthday, buddy.

 ~Allison

A Letter to Max - Our First Year Without You

Dear Max,

I can't believe it has been a whole year without you. A year without seeing you, giving you hugs and kisses, telling you secrets and just holding you. Some days it feels like we've been apart for so much longer...other days it feels like it all just happened.  You took a piece of my heart with you when you left, and I'm forever changed.

It has been hard navigating life without you here.  We miss you. We miss planning events and outings with you. We miss creating memories with you here. Every time we go on a family trip or adventure, we try to have fun and make memories but it just isn't the same without you, and it always feels like someone is missing.   We miss playing with you and reading to you and singing to you. We miss dancing with you.  We miss waking up to your wide eyes and messy hair and we miss kissing you goodnight and tucking you in.  We miss talking about you. We still do...we just have to lean on our past memories together - it is hard not being able to share anything new. We miss YOU being here every second of every day.

BUT we don't miss Krabbe...your suffering, questioning if what we were doing was correct, the fear of sleeping through an alarm or causing you any pain. I'm sorry you had to endure it all. You were extremely brave. You taught us a lot about priorities, fighting for what is right, living in the moment, unconditional love and teamwork. We pushed for answers, fought with insurance companies, tried as hard as we could to expedite everything you needed - even when companies were taking their time or not meeting your needs quickly enough. You introduced us to some amazing people and families who we may never have met. You taught us how fragile life can be, but how much can be accomplished in a short amount of time with focus and drive. You gave us a community who still checks on us, writes us, cheers us on, sends us gifts, and supports us. We became a stronger family becuase of you. We individually became better because of you. But we still have a lot of work to do to make the pain you endured...the long days and nights, the uncomfortable times mean something. You've all made us stronger and better, but I'm sorry you had to suffer through it. It isn't fair that you had to endure all of it. It isn't fair that our state chose not to test. It isn't fair that if we had lived in New York or Missouri at the time, that we may still have you. It isn't fair that we didn't even know that Krabbe existed and didn't know what questions to ask. It wasn't fair that the specialists we trusted told us there was no hope and when we did find a doctor who gave us some - we were late in the process. But life works in mysterious ways and through all of the "unfair" moments, you provided us with a lot of insight about ourselves and a lot of insight on how we can help others. You are a hero.

Emma talks about you a lot. She says you are still with her, so thank you for finding a way to keep your memory alive to her. Thank you for helping her not to forget your incredible bond.  She still wants you here. She tells me that she hopes she has dreams with you in them because she is concerned that she hasn't had many. She asked me how long you have been gone. She's told me it isn't fair that you get to be in heaven and we have to stay here. She says it isn't fair that she doesn't have a brother she can play with. She says she can't remember things about you and bursts into tears. She wishes you were still here to play but she's glad that you don't hurt anymore. It's hard to comfort her becuase it breaks me too in those moments, but please keep sending her messages and ways that she will remember you. She needs to remember you.

We celebrated your third birthday this year by taking Emma to the zoo and we sent you some balloons and had a cake in your memory.  We gifted ice cream to a random family to share the joy that you brought to us with them. Emma still says you are two - you will probably always be 2 to her.

You continue to make a difference and your legacy is living on through an amazing art exhibit focused on bringing awareness to rare diseases. It is called Beyond the Diagnosis. You are the only child in the exhibit with Krabbe. The painting was at the FDA building this past spring and will be influential at so many other important locations (especially this fall). It is beautiful and my wish is that we get to see it in person some day. It perfectly captures your spirit beyond Krabbe, and it is bringing awareness to the disease to hopefully help future children.  You've also inspired others to talk about rare. Two people we know, have given presentations at their schools on Krabbe, but more importantly on you...that has resulted in making future nurses and doctors aware of the disease. Getting them to look beyond the disease, and show the impact on a family and on a child. People still wear your wristbands and shirts in hopes that others will ask questions and we can start conversations (and share everything about you). We still have a lot of work to do at the local level but we'll keep moving forward and keep your memory alive.

Dad still sees daily butterflies on the tennis court or driving places. He thinks of you often but he's quiet about it. I know he still hurts a lot. He supports Emma and I and helps us through some tough moments. I still see butterflies but not as often. I wish I saw them more. You seem to speak to me through music and I listen to the speech that I gave at your celebration very often because it reminds me of the moments with you and all of the amazing memories we made together. Please keep finding ways to send us messages - we still need to hear from you.

This first year without you was a tough one. But we somehow got through it. We continue to try our best to move forward with life, find laughter and joy, and we hope you are watching from a distance. We'll forever miss you and will continue to talk about you and share what you offered to us. You taught us how to live - so we'll do our best to keep living until we see you again.

Love you always and forever,
Mom

https://vimeo.com/177200220

Losing Max...he is forever in our hearts

The beginning of this post was written a few weeks before Max passed away. I felt it necessary to share my thoughts and then update on our current status.

You don't realize how many kids and families go through extra challenges in life until you experience it first hand or have a friend or family member who does.  I'm a part of many special and private Facebook groups that basically are there to support you through the process.  Those who have feeding challenges...those with Krabbe...those with other medically complex issues... There are posts daily about kids making through open heart surgery, struggling for their life who need extra prayers, posts of the success of getting enough calories for the day and of course the posts that I dread each day that I open up social media....the loss of a child.

We haven't been down that road yet but have known a lot of families who we have met through social media who have.  I know it is our future...but I can't fathom how we will get through it.  Max has decided to give us continuous scares the past week and we have come to see that it is disease progression...he is having trouble catching his breath when he gets upset and dips into the 30s...20s or 10 and under with oxygen.  Every time it happens I can't help but think...is this it? Am I ready for this? How will I get through this? What will I tell Emma?  How will we get through our day without our sweet Max? Then in an instant he bounces back and we go on with the day.  He smiles with his eyes...settles down and is fine!

I know I shouldn't even go there in my mind. It is a dark place. But with a terminally ill child...how can you avoid it? Everything is put into perspective again.

UPDATE:

...June 24, 2016 we were woken up about 4 am that Max had stopped breathing and we lost him. He had been struggling for the past month and we were terrified he'd struggle in his last moments. We had a night nurse on her shift and suddenly the pulse ox couldn't find a pulse and she thought the equipment was faulty (which it had been before) but he wasn't breathing. All I remember is  Josiah yelling "what!" over and over...we both ran downstairs and I picked him up, held him and started trying to resuscitate him...but he had left. I continued for 35 minutes until hospice got there and confirmed he had passed. We had decided that if Max had taken a breath we would have rushed him to the hospital. The crazy part of it all was he looked so Calm and so normal...like he was sleeping..he had been struggling the last few weeks and turning purple often. He just looked peaceful. Emma was still sleeping so the mortuary came and got Max and Josiah and I both woke up Emma and told her Max went to heaven. She smiled and said "I'm so happy because now Max can do everything I can do."

We tried to get to the mortuary quickly but I was physically sick. It us amazing how your body responds to deep sorrow and uncontrollable stress and grief. We were able to arrange for Max to donate some nerves and brain tissue to help find a cure. While controversial for some...our whole story we've tried to advocate and help others and I truly hope it helps in a cure.

We had a great celebration service for our little boy...something you should never have to plan...but the amount of support we received for all who came out was so appreciated. We ended the service with a balloon release. Emma picked out a Buzz Light year balloon, I picked lightning McQueen and Josiah superheroes. We each wrote messages and released them to the perfect song...I Lived by One Republic...because Max lived and he helped us live in the moment and do our best to look past this horrible disease.

Each day I miss him. I miss his touch and his noises and his smell. I miss everything but Krabbe... I don't miss his suffering or questioning if what we were doing each day was right. I've continued to do my research to try and get this in front of the right people in Arizona for newborn screening but I'm not getting far. I'm not giving up either.

The best daily reminder from Max are the butterflies. They are all around us and fly in front of us in completely obvious ways...when we are at events or doing things as a family...he lets us know he is around...I truly believe that. We continue to do our best to move forward but some days are better than others. We will always hold Max's memory close. He taught us so much and will be on our hearts forever.  As we enter 2017, I am so sad that I'm entering a year without him. It is scary. We will continue our "firsts" without him here and continue navigating through life the best we know how.

Allison

Better Place

Music is something that helps me every day.  While in the hospital with Max, I heard a song from Rachel Platten, "Better Place"...the lyrics are probably about a crush or romance but for me, it expresses how I feel since my children have come into my life. I'm not the best singer but started singing this song to both kids to express how much they mean to me.  It is a better place since they've been in my life, regardless of the struggles and mountains we've faced. I seem to get an expression and reaction from Max each time I sing this to him (audio here https://www.youtube.com/watch?v=50gPTzjhmhA):

I'll tell the world, I'll sing a song
It's a better place since you came along
Since you came along
Your touch is sunlight through the trees
Your kisses are the ocean breeze
Everything's alright when you're with me

And I hold my favorite thing
I hold the love that you bring
But it feels like I've opened my eyes again
And the colors are golden and bright again
There's a song in my heart, I feel like I belong
It's a better place since you came along
It's a better place since you came along

I see the whole world in your eyes
It's like I've known you all my life
We just feel so right
So I pour my heart into your hands
It's like you really understand
You love the way I am

And I hold my favorite thing
I hold the happiness you bring
But it feels like I've opened my eyes again
And the colors are golden and bright again
And the sun paints the skies and the wind sings our song
It's a better place since you came along
It's a better place since you came along

Now I'm alright, now I'm alright
Everything's alright

Cause it feels like I've opened my eyes again
And the colors are golden and bright again
There's a song in my heart, I feel like I belong
It's a better place since you came along
It's a better place since you came along

The month of February was a scary one for us. Just when you think you are doing everything you can to stay out of the hospital and you have all of the equipment needed at home to keep Max comfortable...the unthinkable happens.  Max was rushed to the emergency room on Feb 3rd because he couldn't breathe. His home health nurse saved his life and kept him stable until the paramedics could get there.  We are so grateful she was there that afternoon. Although x-rays never showed that the pneumonia was completely gone, clinically he was doing better and had slowly been able to do more and didn't seem to be in as much pain. We thought we were on the right track.

When I got the emergency call, I was at work and ran out of the office and sped to the hospital. Once at the hospital, Max was put on a ventilator. That was the scariest decision to have ever made - although there wasn't much choice for him.  We weren't sure if he'd ever come off when we made the choice to put him on it. The ER staff was amazing - told us what was going on and what was happening. I had held it together until we made the choice to put him on the vent...in my mind I wasn't ready to lose him and to have to make a choice to keep him on or take him off in my mind was too much. Seeing his lifeless little body on the table was terrifying and I lost it and had to sit down because I thought I was going to pass out - it caught up with me. How did this happen so quickly? It turned out that Max had both bacterial pneumonia AND RSV (which can be a cold to most people but in small children, it can take their life - even kids without Krabbe).

The days to follow were very up and down. Some days he was doing great - other days they couldn't turn the ventilator up much more without harming his lungs. He went into the hospital as a one year old and came out a 2 year old. On his birthday, he had a good day. His stats were good. He got to meet Ironman and we had a small family party celebrating Max. We decorated his room in a superhero theme and everyone who came into his room smiled.  The Monday after his birthday, we didn't know if he'd make it through the night the way the doctor was talking. Somehow this little superhero decided that it wasn't his time and he fought to a point where they thought they could take him of the ventilator. They told us the vent wasn't doing much so they thought they'd try to take him off.  That first 24 hours were very up and down.  Everyone would come racing into his room because his stats would fall so low and then slowly his numbers would return to normal slowly on his own. Since we had been in the hospital, we hadn't had the opportunity to hold Max because there were so many wires and tubes and lines connected to him. It had been a rough night after taking him off of the ventilator and the doctor that morning during rounds asked if we had held him yet - I told him I wanted to. I held Max for 3-4 hours and then Josiah got to do the same.  You could see him relax...his numbers stabilized...the doctor came in and looked at both of us..."I can do a lot of things medically to help him...but I can't do that. Good job, Mom and Dad." Tears filled my eyes.

It took another 4-5 days until Max was stable enough to go home. The doctor told us that for most kids, they wouldn't be released because he was still on oxygen and other things...but because of his condition and because we basically have a small hospital of equipment at home, we could take him home if we were comfortable to do so. I have to be honest - I was nervous. I didn't want this to happen again but I was so grateful to all be under the same roof again.  No more trips back and forth from the hospital...no more trying to find out who to keep Emma if both of us needed to be at the hospital.  No more worrying from home when it was my turn to be home and Josiah was at the hospital. He did great and slowly we got back into a routine and we were happy to all be home.

In the weeks to follow, Max was assigned a local pulmonologist who has given us a game plan of what to do when he is well, getting sick and sick...so his lungs stay open and clear. It has worked well...I found myself getting the flu shortly after being home - my body shut down with little sleep and finally just being able to be home. Max was starting to get junky again, probably because of my illness - but the treatments helped tremendously and he seems to be back on track.

We are back to our "normal" which to most people is anything but normal. We are grateful to have more time on Earth with our son. It was an emotional rollercoaster but we wanted to thank all of the most amazing nurses at Banner Thunderbird and his doctors in the ICU.  Everyone took care of Max and us.  They helped us all through tough and weak moments but we were able to joke and laugh during the good moments with them.  Thanks to all of our family and friends who helped with Emma, visited the hospital, sent us care packages, sent Max birthday gifts and sent messages, prayers and love.  With such an amazing amount of love surrounding our family - we are able to get through the hard times and come out stronger.  Thank you for your support.  There are never enough words to express our gratitude.

We are looking forward to taking Max out again soon and celebrating each day as a complete family. We are in a "Better Place" and hope to stay here for awhile.

~Allison

Diagnosis Day

Shortly after diagnosis

Last night a few people sent me messages and the Krabbe community was buzzing on social media about a child being diagnosed with Krabbe on the show Chicago Med.  I have never personally watched the show, but I was curious how it would be portrayed so I checked the timing and recorded the show. After the kids were in bed, I asked Josiah if he would watch it with me. I had mixed feelings myself about watching it and I could tell he did as well.  But we both sat down and watched it together just to see how it was portrayed.

Overall the portrayal of the disease and treatment options was correct.  We are glad that the awareness of the disease was featured on a popular national show. It was an episode that pulled at the heartstrings...it is our reality in a lot of ways. There were some unrealistic things...timing to get the test results back for Krabbe in the show and being diagnosed so quickly is rare...it takes weeks. The child was a little older than the more common versions of the disease but it isn't unheard of and can happen with late onset. Even having a doctor who knows to test for Krabbe is so rare... That would have been amazing in the real world...so many kids go misdiagnosed for so long (but again it is only a 60 minute show).  The hardest part for the two of us was the scene where the doctor had to tell the parents that their child was terminally ill and there was no treatment unless diagnosed when there were no symptoms present. It brought back diagnosis day....we both remember it vividly.

Max with Josiah - starting to struggle holding his
 head and couldn't sit on his own anymore.

We all went through a month of hospital visits, tests and doctor's appointments to try and figure out what was wrong. December 1st, 2014, we were in the lobby of the neurologist's office for an appointment to talk about additional procedures we could do to try to figure out his diagnosis.  We saw so many children and families with visible disabilities...oxygen machines...machines and monitors I'd never seen before.  Here we had Max in a baby carrier...he was fussy but relatively normal looking on the outside.  He was starting to lose the ability to hold his head up strongly and needed to lean on us.  He could sit up on his own but leaned very far forward and recently was falling over all together. We both looked at each other without words but both asking each other with a simple look...what is wrong with our child...is this our future....will this be Max?  Little did we know he was struggling on the inside. We finally got called back into the room and both were waiting anxiously for the neurologist to enter the room. We were both telling Max how proud we were of him and how all of this was a speed bump and he'd prove the doctor's wrong and get healthy soon so we could get back to our normal routines.  Then it happened.....in walked the main neurologist and her assistant.  In walked Max's genetics doctor...we had been waiting for results from his bloodwork taken 2-3 weeks prior....but why was he here with the other doctors? They work at the same hospital...but they aren't in the same office...and it wasn't planned that he be included in this appointment...

"We got the results of the bloodwork," the genetics doctor told us.  "It is confirmed to be a leukodystrophy which is what we were testing for."  He had told me at the initial appointment not to google leukodystrophies...just wait until we determined if we were heading down that road...but I needed to know what we were looking at...and what we were facing.  "Max has a leukodystrophy called Krabbe disease."....my heart sank....I had read about so many different leukodystrophies but this one stood out to me as the one I was hoping he didn't have.

"Is that the one the football player's son had...Jim Kelly's son?" I asked.  I had researched a bit about it online.

Almost instantly I received a head nod..."Yes, " he said. I knew that it meant no cure. I knew that it meant short life.  Everyone told me the odds were in our favor and the blood work was precautionary. "There unfortunately is no treatment or cure for the disease."  Tears were welling up in Josiah's eyes - I rarely see him cry.  I on the other hand was in such shock to the point that there weren't any tears that I could release..fight or flight mode...just trying to get information and stay focused enough that I could get the info to help Max.

"Was there anything I did wrong in my pregnancy with him?" I asked.

"No it is completely genetic and nothing you could have done.  You both have the gene that creates Krabbe.  You both have to give that gene to your son.  There is a 1 in 4 chance for each of your children...a chance that neither of you pass the gene, a chance that one of you passes the gene and the other doesn't and vice versa and a chance where you both pass the gene like in Max's case, " he said.

"But it has never run in our families.  We've had no prior knowledge of this," I said.

"You both have to carry the gene for it to even be possible which is very rare," he told us.

We asked if there were treatments, things we can do to make him comfortable.  He told us he'd research it because he didn't get many Krabbe patients and that we should schedule for a follow-up neurology appointment in 2 months...that was it...no other direction.

Max sitting with his friend Abby 1 1/2 months
before diagnosis (end of Oct)

"Do you have any questions?" he asked.  "We are really sorry to have to break this news to you."

We shook our heads no and thanked the doctors for their time.

We both left numb.  We walked through the waiting room and everyone was going about their business...making appointments, answering questions, filling out paperwork, waiting for their turn...yet to us...the world stopped . Our son had just been labelled as terminally ill. We couldn't wrap our heads around it. There is nothing we can do. Where do we go from here? How can the world continue moving?  How can we go on with our daily lives?

We got into the elevator with another person and I started getting tears in my eyes.  We had the long walk back through the hospital to our car.  Somehow we made it without falling over.

We didn't say much - but we both were devastated, shocked and scared.  On the car ride on the way home we vowed once again to stick together and support each other (it was the only way we could get through this) and do everything we can for Max. We called our parents and told them that we needed to meet with them immediately in person. And we gave them the news.  There was a lot of emotion over the course of the next few weeks.

I started doing searches on the internet for any glimmer of hope.  We reached out to Hunter's Hope (The Kelly's Foundation) and were given some direction and support.  They introduced us to a group of families on Facebook who ask questions, vent and support one another. I value this group so much.  We are family by genes.  One of the first people I connected with was Hannah's mom (PA). She suggested us getting to PA immediately to see the Krabbe specialist and find some guidance and help.  Finally...support and direction.

Opening gifts for his first Christmas (shortly after diagnosis)

Shortly after - we consciously made the decision that we needed to stop grieving and rather enjoy Max while he is here on Earth with us. There will be plenty of time to grieve in the future but we wanted to provide him with experiences and moments that he may not get to experience. We've accomplished so much since his diagnosis - more than I've done in my lifetime.  Some of the opportunities presented and the people that we have connected with have truly been amazing and such blessings to us.

We continue to enjoy our son (and our daughter) every day.  Don't get me wrong - some days I don't even want to get out of bed because I go back to diagnosis day. But he's here...he's still physically here AND he is amazing.  I'm going to cherish him for as long as I can.

Every day with him is a gift and I don't want to waste it.