Sunday, February 14, 2016

Zebra Diagnosis

There's a medical saying "when you hear hoof beats, think horses, not zebras." However, in Kreed's case, he has always been a zebra and in the past week, we know how rare of a zebra he is. So rare his doctor said you won't find another person in the state of Colorado with it. There are few people over all in the world with it. 

For those that don't know, Kreed's development was fairly normal until he was 3. Kreed spoke. Had great motor control. Was a smiling, happy, rambunctious three year old. Then over the course of a year, Kreed lost everything. Motor control. All speech and language. Everything. Gone. 

Fast forward years later and things continue to go wrong in his body. Non-stop. Every single year he is hit with something new. He has had specialists follow him his whole life, most scratching their heads. He never fit a box. Never fits any box. Looks like autism, but not quite. Looks like so many things but not really. And his continual decline in health led many to believe it was mitochondrial or generic. But still no one could find it. No one could quite put their finger on it. Tests have always been run. MRI's, exnome sequencing, CAT scans, blood work, lumbar punctures. The list is endless. While everyone can find the diagnosis of the year, no one could find the thing that ties it all together. 

Then we moved to Colorado. Kreed has continued his decline, which also seems to have accelerated. More wrong in less time. More doctors and tests. Then one day, he loses the ability to walk completely. We are devastated and have no idea what has become of our life, his life. So we take him the Children's Hospital of Colorado. 

They are just as confused. They are just as lost to Kreed's sudden decline, but they want to find it. A world renowned metabolics Doctor comes to his room and starts to go through his records which we brought with us. And with the odds against it, he finds a pattern. The pattern leads to some tests. The tests lead to a possible diagnosis. After all these years and all these tests, one doctor, in one state, saw something no one else ever has. 

So here we are, waiting on some final tests to determine exactly what Kreed has. But it's the reason for his developmental delay, his neuropathy, seizures and a few other issues. Something he was born with that no one knew. And it was wreaked havoc in his body, not letting him live a normal life. And now we wait, to see if there is treatment and if there is, what that treatment can do for him, if anything. 

All these years we just wanted to know. We wanted to know what was taking our sweet boy from us, what was taking his mobility and motor skills. What took his speech forever. So we are sitting at Day 10 in the hospital, waiting to hear the next plan and the new diagnosis. Waiting to hear what life has in store for us next and what will happen to Kreed for the future. 

This picture depicts the area in Kreed's body with the dysfunction. We are waiting for the final diagnosis, could be one of five or six things or a new presentation of it. 
And this is the boy we hope to get back with treatment. 
And this is the state that held the one doctor (out of two) in the United States who even has a clue about this dysfunction in the body. Talk about luck in moving. 


  1. Kreeds case need to be on an episode of Diagnose me...........If they do confirm exactly what he has

  2. agreed jeannette, that way if someone else ever has the same thing happen. It will help them out to.

  3. We moved to Colorado as well. Seeley our son is turning 7 this year with a new diagnosis other than Autism, chronic pancreatitis. We will be heard back to children's soon on order to run more tests after months, numerous pancreatic episodes, and one furious mom.
    I'm that process we are adopting a daughter from China with cerebral Hypoplasia which means her frontal cortex hasn't formed. She can't walk. Can't talk. Can't use a toilet and still wears diapers. She has no friends. All things the adoption agency told me at first.
    My answer, so, she's never had me as a mom, Philip as a dad and a family to support her. She has been in an orphanage and has been for 6 1/2 years. She will be a whole lot of question marks but I'm ready to find answers once she is in my arms!
    Thank you for being a mom who never gives up and is a voice for those who don't have one. Your an autism mom rock star.
    If your interested you can visit Seeley's mom on Facebook to see his journey.
    We are all praying for you. Kreed is on our prayer list and we are all praying for all his medical questions are answered and he is able to heal and be Kreed again.
    You've been through so much, both of you but your both hero's in my book!

  4. Sending prayers I hope you guys finally get the answers you have been waiting for and you can help your sweet boy live again

  5. at least there has been progress made , and progress means hope. waiting is never easy but maybe there is finally a light at the end of the tunnel for your family.

  6. Amazing. I'm so glad you are moving closer to an answer! Wishing you continued strength and peace!

  7. Oh how you feel being so close to an answer after all of these years! How you and Kreed must feel to be listened to and heard! Am I wrong thinking that is sounding incredibly exciting and that Kreed is going to be able to receive treatment for this diagnosis? I am so excited for you Kredd and your family. To have an answer finally. To have been heard! To have nursing staff how want to be a part of Kreed's care. And to see him get well. Looking forward to hearing what the next update is, I understand that this will take time. But knowing that Kreed has a final diagnosis must in some way give you hope that you will get your beautiful boy back. Continuing to hold you all in my thoughts and prayers!

  8. I can empathize with you on many levels. The medical field is like a million piece puzzle. You want answers and you get a world renowned Doctor how lucky you are to be in the right State at the right time. I believe it was not by chance but by your answered prayers.

    I have been following your journey in the hospital and cannot tell you how much I have prayed for you. Nights just laying in bed had me praying and asking for answers.

    I can see the light at the end of the tunnel when you can focus on the quality of life,traveling out of your local,the possibility of regaining the motor function to speak,walk and hike. I pray for a positive outcome. My heart goes out to you. I am optimistic that you will get the answers and a plan of treatment.

    If there is anything that you could ask for I'm sure its being grateful for every little step in the right direction its celebrating the accomplishments and working through the sleepless nights Googling various articles to shed light on what is going on to Blogging and helping others who may be experiencing similar conditions

    If i could take 12' hours to live your life I would do it in a heartbeat as I have so much compassion for you. I know other people have posted heartless comments and its so sad to know that mean people do exist.

    You bring the light into life. I would be humbled to ride along on this journey. You have my support!!

  9. We eagerly await more! Much love and real answers!!!!!

  10. I've only just become familiar with your family's medical concerns in the last week or so but I wondered immediately if you may be dealing with a protein processing problem (Kreed's CNS's inappropriate reaction to tried and true medications, the way his eyes get the jitters when he has what was assumed was a migraine attack, his painful reactions to not only inside but also outside stimulus.).
    I have an idea of what the doctor's think the 5 or 6 issues could be and I will keep my fingers crossed and hope hard for all of you that it's 1 or 2 of the 5 as they can be manageable.
    Give my buddy a high five for me and keep us posted.

  11. Glad that you have the right doc looking after Kreed now! Hope to see him happy and back to himself. Praying for you and your family.

  12. When they finally pin point the metabolic issue would you please, please post what it is and the doctors who get it. We are going through a very similar issue with our child who is the same age as Kreed. The medical issues and regression have really increased so much within the past couple of years. The information would help tremendously.

    Thank you so much for being so open about Kreed. It really helps others so much.

  13. Thanks for taking the time to update on Kreed. Hoping soon you will get the answers you need to find out what's going on. My thoughts are with Kreed's family during this time!


  14. I have been praying for you and kreed as you have been facing these uncertainties but I also praise God you moved to the right area in the right time to meet the right doctor.

  15. I was reading about Kreed's recent tonic clonic seizures. My son has these too and he's very similar to Kreed in terms of his entire medical profile. He has numerous triggers for the seizures. Since Kreed is in the hospital now are they doing a 24 hour EEG while he is in there? I am hoping. This may give some insight. Also, will they be placing him on anti seizure meds? Generalized/ Tonic Clonic seizures are horrible and they can come out of nowhere.

  16. Yes oh yes!! The methyl cycle is a integral part of being able to function. We have been helping ours sons by supporting this part of their systems. Dr.Amy Yasko and Dr. Ben Lynch are big proponents of this.