Tuesday, April 5, 2016

Enter cool title for book here

So, I started to write a story.  And I so wish it was fiction, but its painfully true.  Look past the typos and grammatical errors.  Its more "word vomit" at this point.  Here is the intro:

In retrospect, I wish I would’ve had enough nerve to slap her across the face.  Hurt her for telling my husband and me that our son is dying with such nonchaleontless, no empathy in her voice, not any sign of remorse in her eyes.  She stated this as easily as she could’ve been saying, “I’m sorry, we are out of the tacos, could I interest you in our soup de jour?” 
I don’t even remember her name.  She is simply a face to me now.  A doctor that knew nothing of our lives, just what was written on paper.   A day I will never forget is the day she told me my son was going to die.  And not just die, but go deaf, blind, have seizures and have extreme nerve pain and then die.  He was going to die from respiratory failure.  He is going to suffocate to death.
Her and her colleague came into William’s waiting room with the MRI results.  They brought it up on the screen and was showing us areas of our son’s brain that had white spots where there shouldn’t be.  I have a reoccurring nightmare that I have had since I was a child.  Its where I can’t breathe, and I try to run down the hall to my parents’ bedroom but I can’t move.  I try and scream but no one can hear me.  This day was much much worse than that.  “So,” I ask, “What does the white matter mean?”  She states a whole bunch of words I cannot recall, but one I do recall is “damage”.  I’m thinking, damage?  How?  He was born completely healthly, has never run a fever, just smiled and cooed at me a moment ago, and now you’re telling me there is damage?  How?  What DOES IT MEAN?
Then she says, “You’ll need to sit down.”  My mind shut off.  It went numb from that point on.  I knew whatever it was she didn’t want me face planting on the floor, then they’d have another situation to deal with.  “You’re son is going to die.  Make plans now because he will go blind and deaf soon.  He will have a seizure soon, too.”  After screaming and yelling things I don’t recall, I remember the feeling of emptiness and asking, “How long?”  She states, "He will die by his 2nd birthday, but maybe sooner."

Monday, January 4, 2016

January 12-14 Appointment Itinerary

Children's Hospital of Pittsburgh
Tuesday, January 12, 2016


Wednesday, January 13, 2016



Thursday, January 14, 2016

8:30 - NDRD CLINIC APPOINTMENT - MARIA L. ESCOLAR, M.D., and NDRD TEAM (PT, OT, Speech, overall progress monitoring)

2:30 P.M. SCAN

He will also have labs drawn when the IV is placed for the Lumbar Puncture and will also have an ECHO. 

Saturday, December 26, 2015

Did you know

Did you know William could hold his head up when on his belly the day after he was born?

Did you know I took my pregnancy so seriously that I wouldn't even use the microwave?

Did you know my son was born 2 days past due date?  And his delivery was witnessed by 12 professionals as it was a teaching hospital?

Did you know that my son passed all the newborn screens that were mandated in the state of Alabama in the year 2014? He also scored a 9 out of 10 on the Apgar scale.

Did you know Krabbe Disease isn't part of the newborn screen in 45 states?

My son inherited a recessive gene mutation from his father and myself, the gene being handed down generation after generation unbeknownst to anyone, until William was 5 months old.

Now, my son will most likely never speak, walk, hardly move, never eat by mouth, you know the story.

Right when I think I'm okay, I remember those first few days after he was born.  He was so strong and big.  I tried so hard to have a healthy baby.  How, when he was laying on my chest on his belly, on his second day on this Earth, he held his head up and looked at his mama.  He undeservingly was handed a very unfortunate genome.  He is such a strong boy, and will continue to battle as long as he can.  We are so thankful to have such a powerful little man for a son.

Thank you for taking the time out of your busy days to stay updated on his journey.  It is our hope that we will prevent families from going through this continous cycle of grief we endure on a daily, if not hourly, basis.

Tuesday, November 24, 2015

Low lymphocyte level and IgG levels

William had his 9-month post-transplant blood panel last week. The studies show that William's lymphocyte subset panel was lower (a good bit lower actually) than it was when he left in August. Meaning that, based on these results, William's immune system isn't quite up to par yet. His BMT (Bone Marrow Transplant) Team in Pittsburgh believe those results may be incorrect as low as they are. They would actually like us to have that blood panel repeated in addition to trying to get another blood test, which takes a bit more blood and with William and his chunky (and oh so cute) arms, its hard for nurses to find a vein. Usually, William has to have an ultrasound in order to find a good vein for large blood draws (more than 5 mL) or to have an IV. For small blood draws where they check electrolytes, white blood cell counts, etc, what we usually get when we go to the doctor, they can do a finger prick. But not with these tests; the blood needs to be pulled from a vein. Which leads us to our next endeavor:
William's IgG level was borderline low. IgG protects the body from infection. To “boost” this level, a dose of IVIG needs to be given to help keep William healthy throughout the Winter season. IVIG (Intravenous immunoglobulin) is a blood product administered intravenously. He's had a number of these infusions while in Pittsburgh. It contains the pooled, polyvalent, IgG antibodies extracted from the plasma of over 1,000 blood donors. IVIG's effects last between 2 weeks and 3 months and will get him through until our Pittsburgh visit in January. IVIG is EXTREMELY expensive and our insurance has covered this in the past. We are now waiting for our insurance carrier to preauthorize the IVIG treatment and once they do, we will have the infusion done about 30 minutes from where we live. We won’t have to drive all the way to Salt Lake City for that procedure thankfully.
We are also waiting on another preauthorization to get William’s EEG done. Because of William’s seizure scare he had a few weeks ago (which may or may not had been a seizure), his Krabbe doctor wants him to have a 48-hour EEG monitor to check for any seizure activity so she can have that information for our visit in Pittsburgh. An EEG is a test that measures and records the electrical activity of your brain by using sensors (electrodes) attached to your head.
Finally, our flights for our return visit to Pittsburgh are set for January 11. This will be his 1-year post transplant testing and will involve a lot of testing, everything from a lumbar puncture, MRI, vision and hearing test, etc. Testing will last about 3 days. So much for just a little boy.
I hope that all made sense. I had to talk to his doctor at length this morning to explain on the blood work. I just hope it doesn’t take long to get the preauthorization for those procedures. Our insurance has been very good, but because his levels are “kind of low”, and it “may had been a seizure”, sometimes it is difficult for insurance companies to pay for such procedures.
Other than that, William is doing quite well. He is comfortable, smiling, not showing any signs of discomfort, and very alert. As for his Mama, I worry all the time!
Much love, Abbey

Monday, November 16, 2015

how to DEMAND Krabbe be added to your states newborn screen

Want Krabbe added to your state's newborn screen?  Let your state representatives know by following this link.  It will take you 5 minutes tops.