"All of the world is full of suffering. It is also full overcoming." ~Helen Keller



Max in November 2014 during his hospital

stay to find out what was going on.

Have you ever been inside a Children's Hospital? I hadn't before we went through everything with both Emma and Max last year with a hospital stay and multiple appointments/tests.  We would sit in the waiting room and it seemed as though everyone was avoiding making eye contact with one another.  You have no idea what they are going through.  Some of the children were severely disabled...others looked normal but you had no idea why they were there. Were they waiting on test results? Did their child have a life threatening illness?  Were they just taking precautions? It is an uncomfortable environment to be a part of if you are new to it - honestly I don't know if it gets any better...there is no getting used to it.  

The one part that stands out is how many families, kids, and parents are there on a daily basis for routine appointments or tests.  It hurts my heart to know that so many families continue to struggle with these challenges- you never think it could happen to your family, but it could happen to anyone.  Every time I went to Phoenix Children's Hospital, it was packed. One time I was waiting for a genetics appointment in their waiting room and a mother was 25 minutes late because of traffic (it was a brutal day...lots of accidents and rush hour...we were struggling to get there ourselves)...the lady at the front desk told her that she was past her appointment time, and she literally almost started crying and was begging and pleading for them to take her appointment. They eventually did - I felt like I should have given up ours (I wouldn't have because we needed answers too - but I really felt her sense of worry and frustration). You wait for weeks/months to get an appointment to find answers for your children...having to wait another few weeks or months would be awful.

Max right after diagnosis December 2014. He couldn't sit by

himself but he could turn his head and laugh and grin.

The other thing that bothered me was finding out that not a lot of doctors have ever heard of Krabbe.  How is that even possible? Well I can guarantee you that every doctor we see is getting a crash course from us going forward!! After learning that Max had Krabbe, we still went in for heart tests to make sure multiple things weren't taking place (and he was fine on that front).  But just in talking with some of the nurses and technicians and explaining his disease to them, they had never heard of it and were saddened and shocked by what our future held. Max would be screaming through the tests - I just told them to get through the tests even though nurses and technicians were uncomfortable with his crying and shocked that I couldn't soothe him (they would tell me to feed him - or try music or toys or anything)...the more breaks we had the more he would cry. I told them that the irritability was part of the disease AND he was scared on top of it (and he wasn't on any of the meds that help with the irritability yet).  They almost stopped the heart tests multiple times because they thought they were hurting him or couldn't stand to hear him cry - I told them to do it anyway - that we needed the results and I knew why he was so irritable - how did I know more than them at that point?!?  The fact that they had no idea what Krabbe was...well, it scared me...I was scared for us...for future families. Do you know that unless you see the right doctor - this could be misdiagnosed or a mystery for months?  It was up to us to find a solution.  It took us a month to diagnose Max after all of this started and another month and a half to find the right doctor who specialized in this disease and was the first who provided any answers or real help.

After learning more about rare diseases - I can see why the Children's Hospital is unfortunately so crowded and also why it takes so long to find a diagnosis (if they can). I also understand why doctors are nurses aren't well versed in these rare diseases.  Along with all of the more common disorders and diseases with children - there are so many rare diseases such as Krabbe.

Did you know:

• There are approximately 7000 different types of rare diseases and disorders, with more being discovered each day.
• If all the people with rare diseases lived in one country, it would be the world's 3rd most populous country.
• 80% of rare diseases are genetic in origin and thus are present throughout a person’s life even if the symptoms do not immediately appear. (Allison's side note - you may also have had this gene in your family for generations and been carrying the disorder without even knowing it - that's what happened with us)
• Approximately 50% of the people affected by rare diseases are children.
• 30% of children with a rare disease will not live to see their 5th Birthday.
• According to the Kakkis EveryLife Foundation, 95% of rare disease have not one single approved drug treatment.
• 350 million people globally are fighting rare diseases.
• Approximately 50% of rare diseases do not have a disease specific foundation supporting or researching their rare disease.

*You can learn more at ismrd.org or rarediseases.org

However - after all of this disheartening news - there are break-throughs being made every day.  There are kids who are transplanted before Krabbe symptoms appear who are living a relatively normal life today.  That is why Newborn Screening is so important! Anna's Law just got passed in Kentucky this week and just needs the governor's signature to be put into action.  There was a great piece done by local media and also ABC national news on the Wilson Family in Oregon who are trying to get a bill approved for their state (their son Marshall has the disease and when their younger son Michael was born, they asked for the Krabbe tests and were able to transplant before symptoms appeared - he is doing awesome today).  There was also some amazing coverage on Krabbe on ABC national news talking about Zach from England and his battle with the disease and bucket list that they are trying to get accomplished.  We are doing something similar for Max as I mentioned in my last post.  The media and awareness is what we need.  When Newborn screening has to be determined at a state by state level it is a struggle, but I feel like momentum is starting to happen.  Unfortunately, although I am still new to this "Krabbe Family", I feel that more and more families are being introduced on a weekly basis. They get flooded by the Krabbe community on what to do next - because we all know that is their best chance.  I'm hopeful that in July, AZ will get smart and include this in the screening.  I just would hate so much for another family to have to endure all of this.



I found myself staring at Max the other night and just started crying as he slept in my arms.  All of the "what he won't ever be able to do" thoughts started filling my head.  I try to block this out all the time. It is so hard to keep the thought of the future out of my head at times.  I kept thinking about how I didn't want to put him to bed - just want to hold him forever because I don't know how long I will be able to do so. Dark thoughts like this enter my mind daily but it is reality.




A high school friend of mine (we still keep up on Facebook) posted this the other day, and it was perfect for everything I had been thinking about.

"All the world is full of suffering. It is also full of overcoming." ~Helen Keller



Max - March 2015. Cannot hold

his head and needs to sit propped up.

He coos but smiles are hard and

laughing is gone.

Wow - while Max may never get to do a lot of things WE had dreamed he may do - there are a lot of things that he can still overcome and accomplish on a daily basis.  When he hasn't smiled in awhile - it is an accomplishment for the day when I see it land on his face.  We can all accomplish and overcome things we face in our daily lives and see things we may not normally recognize through this little boy's life...simple things that we can all learn from and strive for to be better in our own lives. We can overcome future suffering - and expand this newborn screening throughout the country, if not, the world. We need to find the positive in all of this and continue to charge ahead. 

It's hard to do, but when I get these messages of encouragement, it helps me wake up in the morning...it helps me function...it helps me move forward.

Thank you for your love, your messages, your gifts, and your kindness.  We couldn't get through this without your continued support.
~Allison

Love

I was looking through Max's Facebook page the other day and I realized that there are a lot of pictures of me with Max or Max and Emma but not too many with his dad, Josiah.  It is because he is usually the one behind the scenes taking the pictures or living in the moment with the kids and snapping the pictures of just the kiddos. He is my strength and my partner in crime.  He wakes up in the middle of the night with Max so I can go to work the next morning but he still goes in to work himself that day. He is so loving with both kids - every time I see them interact -  he is just the best dad - so attentive and fun and goes out of his way for them. More than I could ever ask for....I feel at times that I may jump in and get things done without sharing the credit but he is always working and making sure these kids are having the best possible life behind the scenes and I'm so thankful for all that he does for all of us - every day. I personally would not have the strength to do all of this without him and I wanted to share how amazing he is to me and the kids.

Max had a few really good days this week where we were able to put him down and he didn't scream.  That is promising to see. He seems to be feeling better to the point that he isn't throwing up bottles and is cooing when I talk with him.  He still has his ways of communicating too!

He is also now qualified for the state's Early Intervention program which will help with therapies and advice on how to better adapt with him in our home. This is great for us and will be a great resource going forward. We also applied and have been accepted for Max to be a part of Hope Kids which provides events to families of kids that are going through a lot medically.  We are very excited to be a part of such an amazing group of people and look forward to attending their events.  https://www.hopekids.org/

Thanks for the many suggestions to add to Max's bucket list.  We started by taking him bowling with cousins and family.  He kicked the ball down the ramp - not quite a strike but he got a few pins.  The best part was that Emma let him take one of her turns and was so excited for Max to get the opportunity to bowl.  It was a great day for all of us.  I'm looking forward to many of these experiences to come.  I try to fill our weekends with fun activities or visits with family and friends while we can still get out of the house with him - it is important - and we are taking advantage of the amazing AZ weather right now.

We have an appointment on the 16th to explore feeding tube options for Max.  While he can still eat currently (other than the scary few days we had with him throwing up bottles) we are looking to be proactive and use it as needed but still allow him to enjoy some of his favorite tastes - sorbet and ice cream being among his favorites!!  We'd rather do this on our terms versus making an emergency trip we don't need to explore. We are also in the process of getting him a "stander" to help his bones and joints grow in the appropriate ways since he will never walk.  It will be interesting to see how he likes it - I hope that we are able to get this soon - we are still trying to find the best one for his size and get it ordered.

All of the continued support of the Pittsburgh Team and our pediatrician's office have just continued to be so helpful through all of this.  They continue to go out of their way to get Max the care he needs and they are so supportive to our family. (Great Destinations is the name of our pediatrician's office - Dr. Prentice - for those parents looking for an amazing and supportive pediatrician locally).

February 28th was Rare Disease Day.  One of the huge advocates for Krabbe kids created a video which honored a lot of the kids who are living with the disease or have gone through it.  It really highlights a lot about Rare Diseases and also Krabbe - I highly encourage you to take a look. https://vimeo.com/120864507 .  Awareness and education are key to create change!  Images Magazine in north Phoenix also took the time to do a story on Max and our family to help raise awareness for Krabbe - you can take a look at the story here: http://imagesaz.com/blogs/viewBlog/3005/a-miracle-for-max-Barnett

Thanks for your continued LOVE, prayers and positive light toward Max and our family.  We couldn't do this without you.

~Allison