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.
Sunday, September 20, 2015
Wednesday, September 9, 2015
Fact 9
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." (http://judsonslegacy.org/)
Watch his story below:
https://youtu.be/Xq0dNuLAe40
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. http://emedicine.medscape.com/article/951722-clinical#b4
The disease progresses slowly, often lasting years.
http://www.huntershope.org/site/PageServer?pagename=krabbe_krabbe
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.
https://youtu.be/Xq0dNuLAe40
My blog:
http://sweetwilliamsway.blogspot.com/
Not too sure how to use these hashtag thingys but I'll give it a go:
#whitemattermatters
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:
http://www.huntershope.org/site/PageServer?pagename=unbs_supplemental
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.
https://secure3.convio.net/hhf/site/Advocacy?cmd=display&page=UserAction&id=111
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
MAKE. A. DIFFERENCE. TAKE ACTION.
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:
http://www.huntershope.org/site/PageServer?pagename=unbs_supplemental
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.
https://secure3.convio.net/hhf/site/Advocacy?cmd=display&page=UserAction&id=111
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
MAKE. A. DIFFERENCE. TAKE ACTION.
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.
https://secure3.convio.net/hhf/site/Advocacy?cmd=display&page=UserAction&id=111
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.
https://secure3.convio.net/hhf/site/Advocacy?cmd=display&page=UserAction&id=111
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. (www.thejacksonproject.org)
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 (www.huntershope.org). 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. (http://jnnp.bmj.com/content/72/5/635.full).
Treatment for individuals with the adult-onset Krabbe mutation may benefit from undergoing a stem-cell transplant if neurological symptoms have not begun.
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 (www.huntershope.org). 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. (http://jnnp.bmj.com/content/72/5/635.full).
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).
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.
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.
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.
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".
Fact #3:
Krabbe is pronounced "crab" and the letter "a".
Short and sweet!
HAVE A GREAT LABOR DAY WEEKEND AND BE SAFE!
HAVE A GREAT LABOR DAY WEEKEND AND BE SAFE!
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 #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.
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
The Branches
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