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Thursday, March 12, 2015

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

Max at Phoenix Children's Hospital - before diagnosis
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 or

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.

'He's out. Hope this lasts all night! Have a great night.'

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

'Sorry last post of the day.   It was another good day for Max. We are so grateful he's done so well the last few days.  Now we are hopeful he will sleep through the night tonight....'
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 helps me 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.


  1. I understand what you're saying as I think of this often. I have two small ones who resemble Addilyn and Max. I cry daily wondering what your families will post next. It breaks my heart. At times I cannot wait to see how they're doing. Others afraid to see something I don't want to.

  2. Sorry I got kicked off. There are many days I'm emotional thinking of what your families are going through and want to leave the page because it's hard. Then I think how selfish I am because you can't leave the page. You need readers. Commenters. Support. As a therapist you'd think I'd think of this but honestly my own coping skills suck. This situation does. Harsh. But true. I think of your families many times throughout the day. Our life is trying now because we don't sleep. We work a lot. The kids get into everything. But you've Made me grateful as well that my kids do these things. It breaks my heart and questions my faith as to how a child could or should have to go through this. And who are we?! People watching your lives while you have to live it. People who have no idea and take things for granted. Or did. Until they got hit with your reality. I can't tell you how sorry I am or how many tears I've cried for these precious babies and your families. I also know it's not going to help these precious Angels. I've prayed hard

  3. Sorry I keep getting booted!
    I've prayed and begged for these two to have a chance at life they so much deserve. My heart aches. My kids know about Addilyn and Max because they see me cry. I could never imagine you and Jamie having to do what you do. Plus your husbands and your other children. Please know I'm here anytime. You can message me for my number. I've grown attached to both families and dread each downfall that comes. But I'm promising to stick around and be there for all of you. As I type with tears in my eyes. I hope and pray something gives. I'll never give up on either of these babies. Yours. Or Jamie's. I continue to research to see what the drs may be missing. I may be crazy. But these are babies and I feel they need to do something to help. They just found one of the vaccines we've been using for years cure some cancers!!! There has to be something for Krabbe. It's similar to MS w myelin. I refuse to give up. I pray and hope Max and Addilyn do not give up! I hope Max is enjoying his bear. We're working on an Emma surprise as well :) we are always thinking of your families. Sending hugs and prayers. Every night and even in between!