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.

Supplemental newborn screen

Are you or is someone you love expecting?  Ensure your baby has the best chance at a healthy start to life through Supplemental Newborn Screening.  Order your kit today no matter what state you live in!  For $50-$100, depending on what you would like tested for, its worth it.  If only we knew about this simple test.

For all parents, especially parents to be

All of our babies were screened at birth for diseases by a simple heel prick. Each state has their own unique list of diseases they screen for. But did you know that there are NO STATES that include all possible potentially fatal, but treatable, diseases? Only a few states screen for Krabbe, is your state one of them?
Find out what your state screens for by clicking the following link:

First seizure :(

I have some sad news. Although William is doing okay now, he had his very first seizure this morning. It is considered to be a partial or focal seizure. This is brand new territory for us as this was his very first so I have a lot of learning to do. What I do know, after speaking with his nurse, is that there isn't any interventions for a partial seizure, as they remain alert (part of Krabbe Disease progression we cannot control). What it looked like to us was his eyes were rolling up and down, not quickly, kind of like when you're watching someone watch the credits of a movie. It lasted about 30 seconds and both Robert Branch and I were there to talk to him. We believe the trigger was me opening his bedroom door (the sound startled him), as he cried out and then the seizure began. William didn't look scared or anxious, but did look tired afterwards (although he gave Mama a smile when I asked him if he was okay). He's the sweetest little boy I have ever met and I will never understand why this is happening to him. Yes, he was transplanted but also at a point that his body will continue to fail, rate unknown although much slower than had he not been transplanted.
As this is an isolated incident, no action will be taken (as we were directed). He is already on seizure prevention medication, and that obviously will be titrated as needed, secondary affect will be lethargy. If another happens before our trip to Pittsburgh in January or so (we've almost hit our goal to get there, thank you for those that have donated!) We will see his neurologist in Salt Lake City for an EEG.
I am terrified. Please think of our little one and hope this was something that is not going to become the "normal" for him. He's been doing so well.

Wednesday, November 4, 2015

Please join Williams facebook page

1st head start visit

William and I met with his Early Head Start teacher today.  I had met her previously, but that was the first time William and Vanita OBrien met.  I think he is going to love her.  Carolyn Branch was holding him, and when Vanita was talking to him he kept looking back at Carolyn because he wasn't too sure yet (as he does with new faces).  But after a few minutes, he was making eye contact with her and sucking and moving his lips, all things he does when he feels safe and comfortable (or getting what he wants.)  Miss Vanita also brought him new toys to play with and they are just perfect for him.  She has a huge heart and I look forward to collaborating ideas with her.

I was apprehensive about him being ready to start "school", but I couldn't put together a more perfect combination: home visits, a great, wonderful, caring teacher, lots of new resources, and a stimulating environment for our little William.

Besides starting swim lessons, we will now be taking advantage of our local library and their toddler story time.  William loves books and being read to.  Anything with bright colors, music and anything tactile he can feel with his hands he loves.

We also have speech tonight.  We are working on prerequisite communication skills to eventually try out some communication devices.  He's almost 18 months old and is communicating quite well, I think!  He sure tries!

We are also getting some visitors tonight! Uncle William Branch, Aunt Angela Rankin Branch and family will be here soon.  William loves his little girl cousins and I love seeing how well they play together.

As for me, I feel like a got hit in the nose with a softball (because I know how that feels), just being a few days post septoplasty.  No bruising, but lots of puffiness.  I look AMAZING! 😤 So glad I can lay down a little bit with Grandma Carolyn taking care of William.

Much love from Utah.  Thank you for pulling for our little guy.  He needs a lot of support, and prayers, and love!

William got accepted into Early Head Start!

William got accepted into the Early Head Start Program! Head Start is an amazing program that will help support his mental, social, and emotional development until he turns 3, and then he may transfer to Head Start or another pre-K program.  It also is a way for Robert and I to meet some other families in our community.  We are very fortunate as most of the time this program is for lower-income families, but sometimes they make exceptions.

We are very excited for this opportunity!

With the Early Head Start program, an early childhood educator will come into the home with supplies and ideas.  We are not sure of frequency, but I believe it will be at least weekly.  I've already met the teacher and she is great!  I believe it starts next week!  There will also be group meetings with parents and their children monthly if not twice monthly, and again, I'm excited to meet other families.

As always, we are setting the bar high for William.  Although he has severe physical limitations, he is proving every day that he is eager to learn and communicate!

Head Start is separate than the early intervention program he is currently enrolled in.  Within the early intervention program, he gets at home physical, occupational, speech therapy and also baby massage. 💙

Wednesday, October 21, 2015

16 months old!

Couple of big things going on for our little guy:
1) I applied William for early head start today.  We are over the income bracket, but there are about 10% of kiddos that get accepted anyway.  The program is birth through age 3, early childhood teachers make home visits for about 1.5 hours weekly.  Fingers crossed he gets accepted.  Raising the bar for our little man.
2)  Williams speech teacher/communication specialist makes her monthly visit this afternoon to our home.  We are working on pre-req skills to master before looking into an appropriate communication device.
3) Our rec center has heated pools so starting tomorrow William will start swimming with mommy.  I hope he likes the water as much as Robert and I do.  It should feel very good for him, I hope.

Other than that, William is doing extremely well and surpassing where I thought he would be at this point.  He is getting irritated and bored and keeps us in our toes keeping him entertained.  He is smiling, has several facial expressions, and for some reason or another fusses more when I'm around!  Grandma Carolyn is doing so well with him, and I'm able to get so much done outside the home.  Then when I come home, he fusses! What's up with that? 😄  Now that he's over the ear infection and teething (for now), he's back to his routine and sleeping all night. 😴

Thank you for all of your prayers!  Keep them coming!  He's growing so fast!

Sunday, September 20, 2015

Current abilities

Wanted to post a couple of things William has started doing or hasn't done in over a year and has recently started.  For our family and friends that have been following our story since William was diagnosed 10 months ago, you can appreciate what a miracle these little things are!:

He has learned to mouth mamamamamama, although no voice has come out to follow it, yet. I'm trying to catch this on video so stay tuned!  He can voice extremely well when he is unhappy or wants our attention, so maybe he will do this someday!

He is moving his arms a lot better and when I say, "up" he will put his arms up for me to pick him up.

He giggled at Robert the other day (Robert makes me giggle, too, and he doesn't even try!)  Its been over a year since we heard his giggle and didn't think we would again.

He does NOT like Utah lake water.  Yes, the water is cold but I wanted to at least let him at some point "swim" thinking he may get used to it.  Nope, the SECOND (and I mean the exact moment) his feet hit that water, he pulled both legs up to his chest very quickly and screamed.  Not bad for a kid that doesn't have good motor control.  We shall try indoor pool water first, I guess!  Papa Ron Glasgow and Gogo Marcia saw it!

He is making amazing eye contact with whomever is speaking to him, and turns his head to follow mommy and daddy. He recognizes "cat" by words and also by sign.  We work on other words but that seems to be the one he gets the most.  When I ask him to find the kitty, he will look for our cat.  Its really cool to see this! I do sign with him just in case he loses his hearing, although they say he shouldn't.  But I've learned I can never be certain.

There are obviously more things he can do, but I've already posted about them!  He is the sweetest and beyond loved!

With this disease, even though he had the transplant post-symptomatic, William brain isn't actually going to repair itself.  Brain damage is irreversible.  However, he is still healing from his transplant and will be for up to a year or so (January 22, 2016).  They say his baseline of skills will be established around that time.  We just don't know what skills he will get back or what new ones he will learn.  Every day is a complete surprise!  And a lot of unknowns!  We are realists but also setting the bar high for William.

Wednesday, September 9, 2015

Fact 9

Leukodystophy Awareness Month
Fact #9

This post is in honor of Judson Levasheff (December 24, 2004-November 7, 2007).  Judson was diagnosed with Juvenile-Onset Krabbe Disease at 29 months old and died just shy of his 3rd birthday.  He and his family have a mission:  "Judson’s Legacy is a ministry of faith and hope in suffering. We are committed to sharing God’s love for the brokenhearted while funding leukodystrophy research as a tangible expression of that love."  (

Watch his story below:

I few days ago I wrote about the types of Krabbe disease and how they fall into 4 categories:  early infantile onset, late infantile onset, juvenile onset and adult onset.  Because my son, William, has the most common early infantile onset, I wanted to focus for a few days on the less common types.  I discussed adult-onset a few days ago, and today I am going to post a little information on the juvenile onset Krabbe Disease (normal development until between the ages of 13 months to 10 years old and is approximately 22% of Krabbe cases). I only have a little bit of information;  there is little known about this phenotype of Krabbe disease.

Juvenile Krabbe disease is characterized by later age of onset and greater variability in the tempo of disease progression. Early normal development is followed by a period of rapid psychomotor regression, although the disease then tends to subside into a slower, but progressive, degeneration.

The disease progresses slowly, often lasting years.

Meet the amazing little boy, Judson, as he battled Juvenile Onset Krabbe.  Judson lived a short life, but continues to educate and impact everyone that comes into contact with his memory.

My blog:

Not too sure how to use these hashtag thingys but I'll give it a go:

Tuesday, September 8, 2015

Day 8

Leukodystophy Awareness Month
Day 8
One out of 150 people carry the Krabbe gene mutation.  They can be either an affected carrier or non-affected carrier.  This may sound redundant in my posts but for a disease no one has heard of, it affects a lot of folks whether they know it or not.  Of those that are carriers, most got “lucky”, like my husband and myself.  If we had been affected, we would had most likely died between the ages of 2-7 of respiratory failure (after losing our sight, hearing and any cognitive skills).  One out of 150 people carry the Krabbe gene mutation, approximately 2.1 million in the United States alone (based on the 2014 census).
Of all of the diseases, Leukodystophies seem towards the top of the list as the harshest.  Ironically, they are preventable if screened at birth.  It costs $50.00 to screen your child at birth with just a heal prick. Through the Supplemental Newborn Screening, you can ensure your newborn is screened for more than 60 disorders at birth, including Krabbe, regardless of where they are born. Order your newborn screening kit at:

You may have no other reason to test than that you want to (its your right).  I will say that of the folks that have asked about Krabbe and wanting their child screened at birth, they get a lot of strange looks from doctors (pronounced "crab-ay.")  Chances are they have never heard of Krabbe and the word “Leukodystophy” was a word they heard about once in a class several years ago.  Make a difference.  Tell your doctors, put it on their radars.  Please visit the link below to get more information on how you can screen your child and/or send a letter to your state representatives.  If you have already done so, awesome!  Follow up to see if they've taken action or put it in their "I'll get to that someday" pile of to-dos.

Food for thought:
“With an estimated 4 million babies born each year in the US, you mean to tell me, that with a 90% success rate of cord blood transplant arresting the symptoms of the disease and providing hope for a normal life...40 kids is not enough to provide that opportunity? So we do what? Sacrifice them?! If a building was on fire with 40 kids in it, are we not going in to save them because there is a 10% chance we may never reach them?” – John Neal, advocate for Krabbe families

Monday, September 7, 2015

Fact #7

The newborn screening would detect the baby was a carrier of any Krabbe mutation.  Have you notified your state legislatures about adding the test to the newborn screen in your state?  Here's the link.  Click and go, don't wait.  ITS TIME WE START SAVINGS SOME LIVES.

Leukodystrophy Awareness Month
Fact #7
(see chart below)
As mentioned previously, there are over 200 known mutations of Krabbe Disease. One out of 150 people carry a mutation, so chances are you know several people that are carriers. For instance, in my hometown of roughly 25,000 people (Burlington, Iowa), about 165 people are carriers of the Krabbe mutation and probably are not aware. There has been a lot of emphasis on my son's type of mutation, which falls under the phenotype of "early infantile." But, I wanted to shed some light on the other categories.
For today's factoid, I am going to touch base on the "adult-onset" Krabbe Disease. It is estimated that 5% of Krabbe carriers have the adult-onset mutation. (
The child appears completely normal until anytime after 11 years old. At that time, he/she may be misdiagnosed as having multiple sclerosis: Adult-Onset Krabbe Disease often results in initial vision problems, generally followed by muscle stiffness and difficulty walking ( In a few cases, the individual was simply considered "clumsy" always tripping over his/her feet and walking with a slight limp. Symptoms in one case did not begin until the individual was 57 years old. (
Treatment for individuals with the adult-onset Krabbe mutation may benefit from undergoing a stem-cell transplant if neurological symptoms have not begun.

Sunday, September 6, 2015

fact #6

Leukodystrophy Awareness Month
Fact #6

Who discovered Krabbe Disease?

In 1916, neurologist Dr. Knud Krabbe of Denmark first described infantile Krabbe disease in two siblings with spasticity who died in infancy and were found to have “diffuse sclerosis” of the brain. Also in 1916, Krabbe investigated five infants from two families who had dramatic instances of crying and irritability before these were 6 several weeks old. The babies later developed spasms triggered by light, noise and touch. Before the babies were 24 months old, all of the infants died. Krabbe specified cells within the brain missing proper enzymes (GALC enzyme mentioned in previous "facts"), and therefore the disease was named after him.
Picture of Knud Haraldsen Krabbe (1885-1961).

Saturday, September 5, 2015

Fact #5

Leukodystrophy Awareness Month
Fact #5 (see pic below)

This was textbook diagnoses with our experience with pediatricians.  All due respect to the practice, but it took us 3 pediatricians for someone to listen.  At 3 months old he was an Zantac for reflux (wrong diagnosis), we tried every  possible formula with an incorrect diagnosis of milk protein intolerance, and 2 months later of these ongoing issues, his second pediatrician said possible cerebral palsy (my background is in special education, I even know that doesn't just happen at 3.5 months old to a normal developing baby), I said a few choice words to him and went to a 3rd pediatrician.  He wasn't sure what it was, but he listened to me and sent us to Salt Lake City that night with a neurologist and doctor waiting on us (he knew the severity of the situation).  If it wasn't for him, we may not had qualified for a transplant. Knowledge (and a mother and father's intuition) is invaluable.

Do us a favor and ask your pediatrician or family practice doctor if they know what Krabbe Disease is.  I can bet you they don't and with you bringing it under their radar, they may save a life.

Friday, September 4, 2015

Fact #4

Leukodystrophy Awareness Month
Fact 4:
There was over 200 mutations of the GALC gene which result in Krabbe Disease.

Of those 200 mutations, they fall under four categories: early infantile onset (symptoms before 6 months old), late infantile onset (symptoms appear between 6 months old to 3 years old), juvenile onset (symptoms appear between the ages of 3 and 18 years old), then lastly an adult onset Krabbe Disease (symptoms appear anytime in adulthood).
With any category, it is unbeknownst that one is an affected carrier until symptoms begin. Then it usually gets delayed in a proper diagnosis as symptoms mimic other illnesses. Time is of the essence as Krabbe Disease is an aggressively degenrative disorder. The later the onset, the slower progressing the symptoms appear to be. William appeared absolutely normal until he was 3 months old then it took 2 additional months to get a proper diagnosis. I was crazy mom something-is-seriously-wrong-with-my-child for long enough to get some answers.

Again, it is estimated that 1 out of 150 people carry a type of GALC gene mutation.

Enough facts for one day.

Thursday, September 3, 2015

Fact #3

Leukodystrophy Awareness Month
Fact #3:
Krabbe is pronounced "crab" and the letter "a".
Short and sweet!

Wednesday, September 2, 2015

Fact #2

Leukodystrophy Awareness Month:
Fact #2:
Krabbe disease is a result of a deficiency of an enzyme called galactosylceramidase (GALC). Without this enzyme, unmetabolized lipids build up in the brain and are toxic. As a result, the growth of the nerve's protective myelin sheath (the covering that insulates many nerves) deteriorate and cause severe degeneration of motor skills. In short, William's brain has endured severe damage that cannot be repaired, all a result of this missing enzyme.
And it is all part of William's genetic makeup (Krabbe disease is caused by mutations in the GALC gene located on chromosome 14).

Fact #1

Fact #1:
Robert and I are both carriers of the Krabbe mutation, 1 out of roughly 150 people carry a Krabbe mutation. Obviously, we are non-affected, as we both are carriers of the infantile onset (symptoms start before 6 months old) form of the gene. We had no idea until William was diagnosed. We had a 1/4 chance of having a child like William, an affected carrier. See picture below.

September is Leukodystrophy Awareness Month

I will be posting something about my son's disease everyday for the month of September, as this month is Leukodystrophy Awareness month. Our Krabbe Family's goal is to raise awareness of the disease. Thank you for your ongoing love and support of our son, William. As many of you know, he was diagnosed with this terminal genetic disease not too long ago, and a lot of has taken place since then. Please feel free to use the picture below as your profile picture to help spread awareness!
The Branches

Saturday, August 8, 2015

newborn screen

NO state includes all 56 recommended potentially fatal, but treatable, diseases in its Newborn Screening Program. Not one. Not your state. NOT ONE.
IT IS PREVENTABLE. William could've been saved. Hundreds of babies COULD'VE been saved.
Friends and family,
Thank you. Without your support, we couldn't made it through this past year. Seriously. All the cards, phone calls, texts, visits, gifts, prayers...people say how strong Robert and I are, but essentially we are the product of the unwavering support unit we possess.
Now that William is stable, happy and comfortable, I am looking into the next course of action. One fire has been lain to rest, if you will, and now its time to tackle the next inferno.
Back in January and February, many of you filled out a course of action form from the Hunter's Hope website that educated and pleaded with your local legislatures to add Krabbe and other Lysosomal Storage Disorders to your respective state's newborn screen. I am asking a favor of you to follow up, if you haven't already, with these folks. Persistence in key, with our goal saving families and children from going through these heart-wrenching illnesses.
For my friends and family members that have had a baby, do you know exactly what your baby was tested for? All that's important is that the test came back normal, thank goodness. But what were they actually tested for? Not tested for?
Let's say your a mother- and father-to-be and you want more information on this testing. Just in case. YOU HAVE THAT RIGHT and you MUST be proactive. At the low cost to you of $40.00, you child will have the test, which tests for 60+ different diseases in addition to the normal test, and you will know within 3 days if your child has one of these hidden diseases. Why wouldn't you? Why didn't I? We weren't made aware and now I'm telling anyone willing to read this much on a Saturday afternoon. Recessive gene mutations make their ugly appearances one in a millennia. Our William....why are William. That is a question I do not dare to try and figure out, but it happened and we move on the best we know how.
Please help me by filling out this form. Its the first step. And if you already have and haven't heard back from the legislatures, do it again. And again. Don't give up, as you and we have not given up on our baby. Never give up.
Spread the word.

Wednesday, July 29, 2015

Pittsburgh, Take III

Journey to Pittsburgh, TAKE III

I wanted to start off this blog by telling a little story about William's nap today.  So, after I put him in his crib, I decided it would be a good time to take a nap myself.  About 30 minutes into the nap, I hear something over William's video monitor.  I have it turned up pretty loud so I hear just about everything:  the cat practicing parkour on the hallway walls, the buzzer on the dryer, the air conditioning turning on and off, the ice maker.  But this sound was unique.  My initial reaction if I hear anything over his monitor is to think he is coughing and needs my help right away to check on him to make sure he is OK.  But this time, I looked at the monitor and he was still sound asleep.  You know what that sound was I realized?  He giggled in his sleep!  Something was THAT funny that he laughed while dreaming!  It took me by such surprise I just watched the monitor hoping that the dream would cycle back and make him smile, but the next stage of sleep had been obtained.  When was the last time you heard something that made you smile?  Not the "smile because its the socially acceptable thing to do at the moment", but something that when you're by yourself, with no one looking, and your heart smiles.  My heart smiled something FIERCE today through all this heartache and pain of having a child with a terminal illness that robs his ability to smile.

Anyway, my reason for this post:

Although we just got home and settled, I recently purchased our airline tickets, Robert and myself with child in lap, to go to Pittsburgh August 16 through August 20.  This appointment is considered his 180 post transplant and we are to meet with all the hot shots.  He is going to have all of the testing done that he had completed back in Decmeber of 2014.  Here is our appointment itinerary:

Sunday, August 16, 2015:  Depart SLC and arrive in Pittsburgh

Monday, August 17, 2015


Tuesday, August 18, 2015


 Wednesday, August 19, 2015




Thursday, August 20, 2015 - GOING HOME