Max in November 2014 during his hospital
stay to find out what was going on.
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.
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.
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.
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.