Saturday, December 13, 2014

What a ride

Thank you for visiting our blog about our sweet little William.  I will try to post updates on his progress as often as possible.  Grammar police will need to wait at the door - I spend as many free moments I can being with my son.

Our little boy is quite the miracle:  after 5 years of trying to conceive and doctors having really no clear reason why we weren't, we decided we had had enough stress and disappointment and threw in the towel.  I had "stopped" trying throughout the 5 years, but not really.  I still knew when I was ovulating and I still took a pregnancy test as soon as I could, to no avail.  So, we honestly and truly had moved on from that dream.  What a wonderful blessing when the month I had applied for grad school we got pregnant on our own!  No medicines, no doctors, just happened.  This was the first time I truly understood that God was in control.  He is ALWAYS in control.

My pregnancy was great.  No problems, although I gained a stupid amount of weight.  I can partially blame my wonderful mother-in-law's cooking, my cravings for whole milk and chocolate cake and all of those burger and fries I ate...OK I am totally to blame for that one but none the less it was a great pregnancy.  I took the last few weeks off from work, and delivered my sweet baby at 40 weeks and 2 days.  He weighed 8 lbs 9.6 oz and scored a 9 on the Apgar Scale.  It was an uneventful delivery, and we were home within the normal amount of time with our sweet little boy eating, sleeping, pooping, just like all other newborns.

William developed just like any other baby.  My undergraduate being in education, I was keyed into the milestones that he should be reaching by a certain time, and he was exceeding these norms.  He was a big boy, somewhere around the 97th percentile at his 2 month appointment.  Of course, we weren't surprised at his size given his family line; mommy being 5'9" and daddy being 6'4".

Robert and I moved across country when William was little.  Once we moved to our final destination, William was about 3 months old.  At that time, he started to change.  We had an explanation for how he had become a picky eater and how his weight gain slowed down dramatically:  stress from the travel, switching from breast milk to formula, and honestly everything made sense.  I immediately took him into the pediatrician and we tried so many different types of formula, even at one point giving him a diagnosis of milk protein intolerance (not true, by the way.)  The doctors said that he was such a big boy it wasn't too scary that he wasn't gaining weight as quickly, but of course I was not OK with any change in my boy's eating habits and weight gain.  He stopped growing at about 14 lbs.  His muscles and joints started to stiffen.  I could still bend his arms and legs, but they were rigid.  At that time, I went to another pediatrician and he thought it may be Cerebral Palsy.  I was floored.  I knew too much about the disease having a major in special education, and KNEW it didn't get worse over time.  Cerebral Palsy is also a brain injury that happens before, during or after birth.  Just doesn't make sense.  So, I went to yet another pediatrician and he is AMAZING.  He immediately referred us to Primary Children's Hospital in Salt Lake for a neuro evaluation.  They see hundreds of babies with CP, and she did not believe it was CP because he was "too bright".  At this time, and still continuing until this day, William's expressive and receptive language skills are on the mark.  Which makes it very frustrating for him when he is trying to grab for toys and crawl.

This is a very long story with a lot of trips to Salt Lake, but William was eating just enough to not become dehydrated.  However, soon after he turned 5 months old, he quit eating completely.  I couldn't even get him to take Pedialyte anymore.  My pediatrician fast-tracked us to Salt Lake where William was admitted.  After several tests and an abnormal MRI, it was presumed he had a rare genetic disorder.  It is a type of leukodystrophy called Krabbe Disease.  We were told he would not live past his 2nd birthday.  There is treatment for it, ONLY if it is caught BEFORE symptoms began.  We were told there was no treatment available for William because he had already started to show signs.  William will eventually die from not being able to breathe on his own.  He will go deaf, blind and have seizures.  Paint a picture of every parent's worst nightmare, and that was what we were given after our trip to Salt Lake.  However, the blood test took 3 weeks to get the results, and in the meantime we were sent home on a NG feeding tube to get William his much needed nutrients. Ironically, all of his symptoms correlated with malnutrition, so we were really hoping that with some food his body and brain would heal itself.  Well, it didn't although he was much happier!

OK, so that takes us to today.  Robert pleaded with our Salt Lake neurologist to find someone to do a blood cord transplant.  He said that it was too late, but he would check around the country.  He checked Duke, Minnesota and Salt Lake and they all said no, it was too late.  We REFUSED to be told no.  My best and wonderful friend Katie, who is a registered nurse, found a doctor in Pittsburgh that specialized in rare leukodystrophies including Krabbe, and gave me the website to check out.  I called immediately.  They said he is most likely a great candidate because his disease is progressing so slowly.  A successful transplant will not cure my baby, nor will it help any deterioration that has already taken place.  HOWEVER, it does stop the progression of the disease and will keep any skills that he has right now intact.  They talked to me over the phone in depth, for a total of I think 3 hours.  They got all history, his current abilities, and everything else you can think of.  He wasn't just an "infant with Krabbe", he was William.  He was unique and he is still able to do so many things!  He just can't move very well, but he still coos at me, smiles at strangers, laughs, and gets irritated at me when I won't stop giving him kisses.  He tries pushing me away...and I love it.  Push me all you want, son.  That isn't the first time you'll be irritated at me, nor the last!

We are on our way to Pittsburgh Monday, December 15, in hopes to get some promising answers for our little boy.  Side note, while writing this, William woke up from a nap and smiled and laughed at me, and gave his Daddy the biggest smile he said he had seen in a long time.

Now, we are aware that the chances of success are small, the risks of a transplant are scary, but we are all in.  There is hope and that is what we are holding on to.

Thank you for your continued prayers and thoughts.
Robert, Abbey and William


  1. Abbey - your family is in my prayers.

  2. Abbey! You all are in Brian and I's prayers! Also my cousins were told that their baby who has some sort of a rare muscular disease would not live past 2 and she is very much alive and happy with her family at 21😀 Lots of hope to be found in God's plans!

  3. Sweet Abbey, your son's diagnosis story sounds nearly identical to our daughter Karis'. Dr Escolar did not recommend a transplant for Karis, but God has been incredibly faithful. She was diagnosed when she was 5 months old. She will be 5 1/2 YEARS old on the 29th.

    1. Hi, Katie! I would love to chat with you and lean on each other for support. Please email me at