Tuesday, December 30, 2014

William's transplant itinerary

This week's goal is to get William prepared for transplant next week.

Wednesday, New Year's Eve
11:00am - Echocardiogram
12:00pm - CT scan

Thursday, New Years Day

8:00am - meet with BMT (bone marrow transplant) doctor and the general surgeon.  Immediately following William will have surgery for his g-tube and central line placement.  After surgery, he will be admitted into the hospital.  He will need a few days to recover from surgery before transplant medications begin, which should begin by the beginning of next week.

We are hoping to be in the Ronald McDonald House by Friday.

We have amazing family and friend support. We could not do this without you.  It is going to be a very difficult process for our family and knowing that we have been blessed with amazing people in our lives makes an impossible situation less daunting.  THANK YOU.

Love, The Branches

Sunday, December 28, 2014

Transplant Decision

Dear Family and Friends,

We are all in.  We leave for Pittsburgh on Tuesday morning, to begin the process of the cord blood transplant.  The procedure is a cross between a bone marrow transplant and a blood transfusion. William will undergo chemotherapy for two weeks to clean out his old bone marrow and will then receive an infusion of cord blood from a specifically matched donor to reset his system with the complete protein set.  The whole process will take three months of hospitalization for William in Pittsburgh.  While William is hospitalized,  Robert and I will have an apartment at the Ronald McDonald House adjacent to the hospital.  I will stay in Pittsburgh for the whole duration of the procedure and Robert has worked with his employer to relocate his desk to Salt Lake City.  He will commute back and forth from Pittsburgh to Salt Lake City for the work week.  It's going to be a tough go at it, but we will make it work!

I will keep you all posted as much as time allows.  Thank you from the bottom of our hearts for your prayers and support.  We could not do this without our family and friends.

The Branches

Wednesday, December 24, 2014

testing results are in

William's vision, hearing and upper GI tract are completely normal.  His disease is progressing slowly, which is what makes him a transplant candidate.  We have not made a decision, yet, but will know by tomorrow (Xmas).  My transplant info blog entry explains each decision.

Merry CHRISTmas,
The Branches

Saturday, December 20, 2014

Krabbe Disease facts

About Krabbe Disease

The information online is 30 years outdated.

It is genetic.  Neither Robert nor I have any family history.

1 out of 125 people carry the mutated gene.

Both parents must have the gene in order for their offspring to be an affected carrier.  There is a 25% chance their offspring will be an affected carrier (like William).  50% chance their offspring will be a non affected carrier (like Robert and myself).  25% chance for their offspring to be a non carrier.

There are over 100 different types of mutations for the same gene.

There is an adult onset Krabbe Disease.

There are two states that I know of that now test for Krabbe Disease as part of their newborn screening: New York and Pennsylvania.  Remember, it can be cured if treated before symptoms begin.

Krabbe disease can only be confirmed through a blood test after birth, not through amniotic fluid before birth.

1 out of 100,000 babies world wide are diagnosed with Krabbe each year.

I am 100% confident I will never win the lottery.

transplant info

After a long tiring week, we have made it to Utah.  We were given a lot of information from Dr. Escolar, the neurologist, and Dr. Paul, who does bone marrow transplants.

William is a candidate for a transplant.  However, his motor skills, regardless, will continue to decline.  Basically, he will look like a quadriplegic, but will be able to feel, although with management of medications he will not be in pain.  Motor skills also involve the mouth and ability to talk.

William's disease is progressing slowly.  Therefore, he will continue to be able to see, hear and have some neck movement and very little arm and leg movement until his 1st birthday.  At that time, they say, he will start to decline.  He may live until he is 4 or 5, but will spend those last years in a vegetative state.

With a transplant, because his symptoms began when he was almost 3 months ago, he will still lose all motor skills.  From what I understand, Krabbe Disease affects the peripheral nerves and that damage cannot be stopped nor fixed.  Actually, any damage at this point cannot be reversed regardless of transplant.  What the transplant will preserve is his sight, hearing and his receptive language skills that are still intact at the time of transplant, which if we committed to doing it today, would not be for another 4 weeks.  In other words, if he would lose all neck control in a month, he will not get that back.  He will communicate through an assistive device such as a computer.  Life expectancy without transplant, Dr. Escolar said, would be 4 or 5 years, and the last 3 or so years he be in a vegetative state.  It doesn't seem real to be writing this; they don't even make movies about this because it's so sad.

Life expectancy with transplant is about 15 years.  There is a 10% fatality rate due to the transplant.

The risk of infection during and after the transplant is high.  He will be on chemotherapy to remove all of his bone marrow, he will be in isolation.  If we commit, we will fly back to Pittsburgh on Saturday, and stay there for 3 to 5 consecutive months.  The transplant is not 100% successful.  There is a chance nothing may change and we would had spent a lot of precious time with our Little in the hospital...this is a decision I wouldn't wish on my worst enemy.

We will make a decision by next week.  We are beyond exhausted, currently waiting for our luggage at baggage claim at midnight and are in no way shape or form capable of making big decisions.  We ask for your prayer to help us make the best decision for our family.  There isn't one thing in this world we wouldn't do for our son.  He is a true blessing and we are honored to be his mommy and daddy.

Again, apologizes for the typos, as it is late and I'm typing on my smartphone with two fingers.

Much love,
The Branches

Friday, December 19, 2014

ER update

William is recovering well.  Our neurologist says we will be discharged soon.  He DID NOT have seizures, thank goodness, but a severe reaction to the medication.  He will be fine in hopefully a few hours and we will get to go home tomorrow.

William's 1st ER visit

William started a medication yesterday to help with his hypertonicity.  He had an unexpected reaction.  Instead of helping his rigid muscles and joints and help him to relax, it caused his pupils to dilate, he became extremely irritable, he had slow shallow breathing, he was in and out of conscience, he did not recognize Robert or me, and looked as if he was having seizures where he would stare off for a moment, then he would go completely limp for 5 seconds or so, then wake up screaming.

Currently, as of 8:30am Eastern time on Friday, William is admitted into Children's Hospital here in Pittsburgh.  He is hooked up to an EKG to measure seizures (I apologize if that's the incorrect acronym for that), an IV to help flush the medicine out of his body, and the other wires involved to monitor his heart and breathing.

William's adverse reaction is uncommon.  We came by ambulance to the hospital late Thursday night.

Robert stayed with William all night and I came back to the hotel for a break.

On a positive note, the medicine seems to be completely flushed out of his tiny amazing resilient body, he is eating solids (sweet potatoes, his favorite) and is resting comfortably.  Robert said he gave the doctor a good smile this morning, William's way to letting mommy and daddy know everything is OK.

We are still planning to go back home to Utah on Saturday.  Not sure if that will happen or not at this point.

I apologize to family and friends that we speak to regularly on the phone that this is the first you are hearing of this, as time is of the essence at this point. Thank you for understanding.

Thank you for your continued support.  Hopefully this was just a speed bump in an already ill-maintained gravel road.

Wednesday, December 17, 2014

Day 2 testing complete

Today William got evaluated by physical therapy, speech therapy, Dr. Escolar, had an MRI and a lumbar puncture.  The MRI was to check the progression of the neurological damage; Pittsburgh has the highest resolution MRI in the nation.  The results of that MRI can than be compared to the MRI William had a month ago in Salt Lake City.  We will talk to Dr. Escolar about those results in the morning (Thursday) to see how quickly his neurotransmitters are deteriorating.  The lumbar puncture was to draw spinal fluid to identify which of the 150 mutations of Krabbe Disease he has; this information helps predict the progression of the disease.

The results of the physical therapy exam along with Dr. Escolar's exam indicate his motor development is substantially delayed, however, his receptive language skills are advanced.

Tomorrow, we will meet with Dr. Escolar, he will have a vision and hearing test, and we are going to consult with the doctor that does the bone marrow transplants.

William is resting after such a busy day.

Thank you for your continued support.
Love, Robert, Abbey and William

Tuesday, December 16, 2014

Nerve Velocity Test complete

Test 1 complete: William had a Nerve Conduction Velocity test this morning. It measures how quickly electrical impulses move through a nerve; with Krabbe Disease, the nerves deteriorate quickly. Tomorrow morning, we will meet with Dr. Escolar, the neurologist that wanted to see William. We will discuss how much nerve damage has taken place.

Monday, December 15, 2014

William's appointment itinerary

Tuesday, December 16
Nerve Conduction Velocities (NCVs) 9:30am

Wednesday, December 17
Clinic appointment at NDRD (Neurodevelopment in Rare Disorders)
We will meet Dr. Escolar and the NDRD team.  7:30am

Brain and Lumbar Spine MRI/Lumbar Puncture 2:00pm

Thursday, December 18
Visual Evoked Potentials (VEPs) 10:45am

Auditory Brainstem Response Evaluations (ABRs) 1:00pm

if after all of that Dr. Escolar determines William is a transplant candidate...

Friday, December 19
BMT appointment (Bone Marrow Transplant) 12:30pm

Click on the following website to learn more about Krabbe and Dr. Escolar's research and program.

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