It is not about what is lost ~ it is about what still remains

It has been awhile since I've written - life has gotten in the way - which is a very wonderful thing. We've had lots of cherished visits from friends, weekend trips to the park or have been out front playing with the neighbors over the past few weeks. Josiah and I have recently faced some tough things emotionally but are moving forward and have leaned on each other for support.

Max had a rough few days not keeping his bottles down and has just been a bit more fussy than usual all weekend.  I remind myself - wouldn't you be grumpy if you weren't feeling well either?!? Hopefully this was just a small stomach bug that will pass and we will get "Max" back soon.

We've unfortunately both noticed some decline in Max since our trip to Pittsburgh - which was already a month ago.  It is harder for him to smile - when we get a laugh, coo or smile - it is the greatest moment, because we don't experience this as often - Max was the most smiley and happiest baby so this one is so tough. I read one of my first blog posts with me singing the alphabet to Max and at the end asking if he wanted me to sing again and he'd coo in response - I haven't gotten that in awhile from him - yesterday I tried it and didn't get any response. It's heartbreaking how fast he continues to lose certain things - this disease affects both the brain and the nerves - his brain is the most affected right now - he has moderate damage (mild, moderate, extreme scale) and I'm starting to notice he can't comprehend as much as he once could...OR maybe he just can't express what he still understands.  A few months ago he had a bit more physical strength; he was really aware of things and would follow things with his eyes - he could comprehend somewhat; he loved Mickey Mouse cartoons - they caught his attention with the music, colors and fun shapes. Now we cherish the days - moments - where he gives any kind of response.  Different positions are very uncomfortable for him...he also is more intrigued with lights and fans...more so than his favorite shows where he could learn more - he also looks past things...tougher to focus. We were able to borrow a kid cart (medical stroller) which in the beginning worked well - now it is hit and miss with him.  He just likes being held, comforted and consoled - I have to admit while it does a number on my back and there are moments I want to put him down to cook dinner or clean the house - I'm enjoying these moments to be able to hold him close and other things can wait at this point in time.  When I get trapped in these moments where I am sad about what he is missing out on...catching myself focusing on what he can't do and what has been lost, I think of something that I heard a few days ago on a reality show (yes I admit - I'm a reality junkie - a guilty pleasure)...the Celebrity Apprentice...Leeza Gibbons was talking about her charity Leeza's Care Connection which honors her mom who faced Alzheimer's. Her charity helps families who are dealing with Alzheimer's Disease.  She made a comment that stuck with me...something along the lines of: "We have to remind the families that it's not about what is lost, but what is still there.  You have to embrace what they still have and enjoy those moments"....I'm trying...I'm really trying...

I am also still very confident that there is a greater purpose for all of this...no matter how hard it is to believe.  He is in our lives for a reason.  He is our amazing son - and we love him unconditionally
just the way he is.

We also just recently watched The Theory of Everything with highlights the life of Stephen Hawking - what an amazingly brilliant person who has lost so much to ALS but is determined to make a difference and push forward and he has lived past what anyone could have ever predicted.  It was a difficult movie for Josiah and I to watch - ALS seems very similar to Krabbe in that so many functions are lost - however the brain remains in tact...not so much the case in Krabbe. How I hope that Krabbe gets added to our Newborn Screening tests here in AZ and all across the country - it is really the only hope any family has with these kids.

Max loves being outside.  Yesterday he was so upset in the morning and we just couldn't calm him but we still took him to an amazing event organized by our family: Yoga in the Park (last Sunday of every month we get together).  He instantly calmed down the moment he was held and outside.  He loves to look at the sky and the clouds.  Always looking at the sky... He became fussy later in the day and so we went out in our backyard and again instantly calmed down - got to touch the leaves, feel the breeze...enjoy nature. And just gazing at that sky.

Emma absolutely loves her brother - we were at a Valentine's themed play date a few weeks ago and Emma was making sure that Max had Valentine's cards, that he got candy too, that he got to experience everything that she did and she made sure that no one left him out.  She continues to amaze me every day and helps us so much when we can't grab things - she helps. In her eyes - Max is perfect, normal and her brother - she protects him and loves him unconditionally.  I continue to learn a lot from their bond and their love every day.  When she gives him a kiss - while Max doesn't always smile and can't express as much any more - you can see the smile in his eyes - he loves her as well. 

We did get some good news after testing Emma - she doesn't have Krabbe- but she is a carrier of the disease (much like Josiah and myself).  If she has kids one day, she would have to get her partner tested - if he also is a carrier, they would have to be careful because they would have a 1 in 4 shot in giving their children Krabbe...if her partner isn't a carrier then their kids will be fine...but she could pass the gene to her kids and they may also be carriers.  In the grand scheme of things - this is great news and we are happy that she only carries it...doesn't have it.

Josiah and I have decided to make a bucket list for Max.  We want him to experience as much as he can. He already has done a lot - Been to Disneyland and met Mickey Mouse (one of our favorite family places well before kids), he has been to the local aquarium, been on an airplane etc. etc. It's a little difficult to come up with ideas for a one year old - but we are doing our best to start this list and hopefully continue to build amazing family memories together while we have the time with him on this Earth.  If you have any ideas - please let me know.

Music has been a therapy to me lately.  It is amazing how the "right" songs with messages that I need to hear keep finding their way to me. With my long commute to work and back - it actually helps me get focused for the day and control my emotions a bit - the car is where I release a lot so I can move forward.  Music is good for the soul - it is for mine.

We continue to get amazing donations, cards and well wishes.  I apologize for not getting our thank you's out personally - but we hope you understand that the time we have is devoted to our children and we are trying to make the most of the time we all have together as a family - it is so precious. If we haven't reached out - we will...we will be sure to contact all of you individually - we appreciate all that you've done, more than you know.

February 28th is Rare Disease Day.  Our goal is to spread awareness - have more people learn and understand this disease.  While there isn't a cure today, there may be one in the future and there are treatment options today if caught early enough. Awareness is key.  Thanks for the support on the 28th to help raise awareness for Krabbe to help others going forward.

I love someone rare - he is my world.

Happy First Birthday, Max!

 

I cannot believe that it has already been one year since Max blessed us with his amazing spirit and joined our family.  He is such a sweet little boy and has changed so much in one year. I'm so honored and proud to be his mom.  Even with all of the things he has gone through this year - he is such a magical little boy, and we love him so much.

We have a fun filled weekend planned of day trips, time with friends and family and individual celebrations.  We hope he enjoys the celebration of the first birthday as much as we will.

In the past few weeks, we have been extremely blessed by family and friends, and I just needed to recognize those who have been so instrumental in supporting us through all of this. Thank you to everyone who has donated on the GoFundMe site and to our family for setting that up - we are so blessed to be able to use this help toward travel, equipment, therapies etc. that may not be covered by insurance.  Thank you also to our family who created the Miracle For Max blue wristbands - it is helping to spread awareness about this horrific disease and honoring our little Max. 

Miracle Mile Deli has been including areas in their store to allow for donations to help with Max and create awareness for Krabbe - it has been incredible the amount of support we continue to receive from them!

We were also surprised by our neighbors - we seriously live on the best street ever - who came into our home when we were away and remodeled our bathroom - printed canvases of our family photos, cleaned our carpets, remodeled other rooms, landscaped the yard, got gifts for the kids and so much more.  Coming home after an emotional week on the road to such an amazing surprise was just so fantastic.  You hear in the news about all of the horrific things that continue to happen...well just remember that there is SO MUCH GOOD and thoughtfulness, healing and love in this world - we are reminded of this every day through the people that surround us.

We were able to go to Pittsburgh and meet Dr. Escolar and her team for the last week in Jan.  She is just amazing and truly cares about her patients and families - when I finally got to meet her, I felt as if I were meeting a celebrity - so much excitement.  I almost took a selfie with her but refrained. :-) She took her time with Max and we saw her every day we were there.  We got more information here than we did 3 months in Phoenix.  They have so much of an understanding and a comfort about it all. We have also been faced with one of the biggest decisions of our lives.  I won't get into specifics just yet but everyone has been uplifting us to gain the knowledge to make this important decision for Max and our family.  If you can too uplift us during this time it would be great.

After the many tests Dr. E. determined that Max has Late Infantile Onset- usually happens between 6 months and 3 years.  His life expectancy is 3-5 years.  You know, I don't really dwell on that number - the amount of years with him that are full of life and love are the most important to me - and it's only an average - greater things have happened beyond a number - HOPE.  It was determined that Max is approximately at 4 months in terms of mobility and 8 months cognitively.  We have increased his meds which have been making him coo and respond to us more - which has been fun. She also let us borrow a medical stroller which gives him so much more support and I have been able to put him down for 20-30 min at a time without him getting too upset (BREAK FOR MY BACK!!) which is great for him to gain a little bit of independence.

Other excitement - I got to listen in on a conference call about an AZ Bill to add Krabbe to the Newborn Screening - I know it is rare but it will definitely help other families who are going through this in the future and give them resources and opportunities sooner than we received them (or hopefully). They are in the process of researching the process and will be making a recommendation to the legislature in July - looking at costs and resources.  I do hope that they provide the opportunity to test for this and help families early.  It is truly the only way to help these families - early detection. It is really a shame that this cannot be federally mandated - each state has to fight for the ability to test for this disease. 

Lastly - I have connected with so many amazing families that are going through this with their kids or are still in the community but have lost their kids to Krabbe from all across the United States.  So many families are fighting for their kids and fighting to make the hope of saving other children's lives through newborn screening a reality in each of their states.  Each family is just so open, willing to share, helpful, comforting and they provide their experiences.  I'm so grateful that they have welcomed us into this community so that we can gain knowledge and hopefully in return, support those who need it as much as we do.  All of this puts life into perspective; to enjoy the simple moments; don't let life pass you by; do what you love to do; surround yourselves with others who will make YOU better. We have found that we are a part of something greater and although tough, we are determined to make the best of it and continue to move forward as positively as we can.

Max shares his birthday with the same date that my mom passed 8 years ago.  I still think of her so often.  Sunsets, songs and little things remind me of her daily.  Emotions are in full swing this year with everything going on and remembering her but I truly feel her spirit surrounding me and comforting me through it all.  I trust that all will be well, even if I don't fully understand this path for our family or for Max. There has to be a greater purpose for it all - I just can't see why yet.  It is the only way I know how to get through it all.

We will enjoy Max's birthday - celebrating his magical life and a true miracle.

~Allison
#MiracleForMax