Krabbe's Leukodystrophy

Although Krabbe's is a horrible, devastating disease affecting our children,
we pray & hope that miracles are just around the corner,
waiting to surprise & delight us, just as our
beautiful children have blessed us
with their miracle.

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What is Krabbe's (Globoid Cell) Leukodystrophy?
Krabbe's is an extremely rare and neurodegenerative disease that is autosomal recessively inherited, meaning that both the mother and father are carriers of the recessive gene.  There is a 1 in 4 chance that when both parents are carriers that their child will have the disease, a 1 in 4 chance that the child will be a carrier but not have the disease and a 2 in 4 chance that  the child will not be affected.  "Krabbe's disease is a defect in the genes that does not allow for proper development in the brain.  Specifically, the nerve fibres' myelin sheath, which carries electrical impulses to other nerves in the body, does not form properly, preventing the signals from properly reaching other nerves."

Children with Krabbe's are lacking only a pinhead size of an important and necessary enzyme (GALC).  The cerebrospinal fluid protein is toxic to myelin and without GALC the protein cannot be broken down, resulting in a loss of myelin.  Unfortunately children with this devastating and rapidly progressing disease eventually lose all mental and motor function, become deaf and blind, and usually do not survive beyond two years of age, although there are rare cases where children have lived to 6 years of age.

For medical research articles on Krabbe's Disease, there are two article links here for your information.  One is an article authored by David A Wenger, PhD; Thomas Jefferson University Hospital and Stephanie Coppola, BS; Jefferson Medical College http://www.geneclinics.org/query?dz=krabbe.  And the other is an eMedicine Journal http://author.emedicine.com/ped/topic2892.htm authored by David Tegay, DO, Fellow, Department of Medical Genetics, Mount Sinai School of Medicine and coauthored by Shari Fallet, DO, Chief, Division of Genetics, Assistant Clinical Professor of Human Genetics and Pediatrics, Children's Hospital of New Jersey at Newark Beth Israel Medical Center.

What are the Symptoms?
Children with Krabbe's appear healthy at birth and then anywhere between 3 - 6 months for the infantile form (there are also known cases of later-onset Krabbes), they begin to lose previously acquired milestones and then quickly regress.  Symptoms for Krabbe's may be different for each child, however common symptoms are:

• developmental delay (usually before 6 months)
• loss of previously acquired milestones
• extreme irritability
• clenching of fists, thumbs turned in
• stiffness of the joints
• increased muscle  tone (spasticity)
• arching of the back
• feeding difficulty
• constipation
• shrill cry
• unexplained temperature changes
• seizures

When did Chloe's symptoms first appear & what were they?
(For a detailed account of Chloe's symptoms, please read "Chloe's Story")

For the first 3 months of Chloe's life she very rarely cried, in fact, during her first few weeks of life we weren't even sure she knew how to cry.  Chloe has always been such a relaxed, calm and laid back little girl.  Wherever we went people commented on how content our amazing little sweetie was, we could take her absolutely anywhere and she would just quietly observe everything and everyone around her.  We truly were blessed the day Chloe came into our lives, she was truly a miracle.

Chloe slept through the night at 2 months (8 hours) and she would do so until she reached 7 months.  My friends and family couldn't believe how wonderful it was that I got a full night's sleep every night.  Chloe truly was an amazingly wonderful little girl, her daddy and I were happier than we had ever been, we loved her more and more every minute if that was even possible.

Chloe first held her head up at 3 weeks and discovered her delicate little hands at 1 month.  We also saw a beautiful smile light up her face for the first time at 1 month.  At 4 months Chloe laughed for the first time and it was the most wonderful and delightful sound we had ever heard.  Also at 4 months Chloe reached for a toy and was able to bring it to her mouth.  Since Chloe loved to bring things to her mouth, at 4 - 1/2 months we decided to feed her solid food for the first time, success!!!!!  She LOVED it!!!!!!  Things were going along tremendously, she was following right alongside the infant development books in terms of milestones.

Since birth, at least once a week, sometimes more, Chloe would throw up a large volume of breast milk (it was a projectile vomit that seemed to be such a large volume and came out so fast).  We mentioned this to the doctor at each appointment but the doctor said not to be concerned unless it was happening more often and if she was losing weight (which she wasn't - Chloe has always been a good  size).

Looking back, I guess if we were to think about when we may have first seen a sign that something wasn't quite right with Chloe was at about 4 months.  Chloe was never one to cry but at about 4 months she began to make strange with others (even family).  If Chloe was overstimulated or if there were too many people creating too much noise she would let out a shrill cry and would continue to do so until I picked her up and soothed her.  But really, we just attributed this to normal behaviour, most babies went through periods of colic (right??) (& Chloe was content most of the time, unfortunately just not with other people).

It was becoming more and more apparent that Chloe didn't have any interest in being loved, cuddled or held by anyone except her mommy (which being her mommy I absolutely loved!).  But it was heartbreaking that Chloe didn't want to be held by anyone else, even her grammas & grampas who loved her so much were having a hard time getting close.  Every now and again she would let someone else hold her but it was always on her terms and her timeframe, she would soon let you know if enough was enough, our little angel certainly had some lungs on her.

Another thing we noticed was the fact that when we changed her diaper and pulled her legs up towards her chest, Chloe would let out a scream, it was evident that something was causing her a great deal of pain (in her spine?).  This same thing happened whenever we pulled her up to a sitting position, if we bent her too far forward she would again let out a scream.  There was obviously something causing her a lot of discomfort in her mid-region (but being our first child we thought maybe she just wasn't flexible enough and her muscles were still developing so we were just very cautious and didn't push her too much, she would do these things in her own time).

Chloe had been such a relaxed, laid back baby, so much so we were trying to get her to do more, we would encourage her to play by putting toys out of reach so she would grab them (but she would not grab until you brought them right to her hand) and we would stimulate her by exercising her and encouraging her to roll over or sit up.  But our little sweetie was just so content to just lay there and observe all that was around her.  We were so excited by the fact that she seemed so cerebral, she seemed smart beyond her years, her eyes reflected an old soul.   We just thought that physically Chloe would develop a bit later than other children, which was fine, we did not want to push her to do anything she wasn't ready to do, we loved her beyond words and nothing would ever change that, she would do things in her own time.

Just before Chloe reached 6 months she rolled over onto her side (her left side) for the first time!  We were so excited.  Unfortunately, this would be the one and only time Chloe would attempt to roll over.  Since birth she was never a baby who liked to be on her tummy, every time we attempted to put her on her tummy she would rub her nose into the carpet (she wouldn't even attempt to bring her head up to look around).  She would lay there on her nose, motionless, until she became upset and would start to cry until we rolled her over again and she would once again be as content as can be.

At her 6 month vaccination appointment we casually told the doctor that Chloe was still not able to sit on her own and that it seemed to hurt her when we bent her too far forward.  The doctor said she would have liked to see Chloe a little more active but not to worry as all babies develop at different times.  She scheduled an appointment for a month's time so that she could assess Chloe's progress at 7 months.

At 6-1/2 months Chloe would become less and less active, she could lay so still for such a long time.  This inactivity was beginning to concern us a little (but we still attributed this to her relaxed demeanor).  We had attended a couple of child development open houses in hopes of encouraging Chloe to interact with other babies and to stimulate her physically.  It was at these classes that we realized Chloe was definitely not as active as other babies her age.  But the other parents were so impressed with how relaxed and calm our darling Chloe was just as we were impressed with how active their babies were.  We didn't know what to think.  Should we be happy that Chloe was as wonderfully relaxed as she was or should we be pushing her to be more active?????

About a week before we were to see the doctor again for Chloe's follow-up 7 month check-up we noticed a few more things that concerned us a little.  Chloe was definitely not moving as much as she was before and she no longer attempted to grab objects nor seem interested in bringing things to her mouth as she had done previously.  Chloe's breathing also seemed to be raspier (almost cold-like), but it was just off and on, not all the time.  Also just before I would breastfeed Chloe she would cry and seem to have trouble latching on (which seemed a little unusual since she had always been a very good feeder).

Also in the last week Chloe had had a few choking or gagging episodes (especially in the car - was she car sick?).  She would start to convulse, like she was going to vomit and sometimes she would bring something up and other times nothing.  During these episodes she would have great difficulty breathing for a few seconds (although it seemed longer at the time).  Another thing we noticed is that she was becoming more stiff and rigid.  We noticed it more when others held her, as soon as she was picked up she would go as stiff as a board and it would be hard to sit her on your knee because she just wouldn't bend her legs.  She would also startle very easy and when she startled her arms would go directly in the air and her legs would shoot straight out.

Chloe's sleep pattern had also changed in the last week, she was no longer sleeping through the night as she had done so since she was only 2 months.  I wasn't too concerned, I just thought it was because she was becoming a little girl and as she was growing she needed more food and less sleep.  However it was becoming less and less sleep, she would go from sleeping 8 hours a night, to 7, 6, 5, 4....until she was only sleeping a couple of hours at a time.  I would try everything to soothe her and put her back to sleep, whether it was feeding her, rocking her, cuddling her or singing to her.  I tried everything and anything, our little girl just didn't seem as content.

We met with the doctor when Chloe was 7 months and the doctor said that Chloe should definitely be more active than she was so she referred us to a pediatrician.  We met with the pediatrician the next day and he was concerned enough that he decided we should see a neurologist.  The pediatrician commented that it seemed that Chloe's brain messaging system was not transmitting messages as it should and that Chloe appeared to be very floppy (like a "rag-doll" he said).  Although concerned, we thought at worst that maybe Chloe would be physically delayed in some way and all that would be needed was medication to improve her brain's messaging system.  Never, never did we anticipate what was to come..........what was happening to our perfect life...our perfect, beautiful, amazing little girl?!?!  This had to be a MISTAKE!!!!!!

We met with the neurologist at the Children's Hospital the next day and she was concerned enough that she wanted a CT Scan done immediately so she had Chloe admitted that afternoon.  The CT Scan was done later that afternoon and the neurologist reviewed it with us shortly after.  The CT Scan showed an abnormality in the white and gray matter of her brain and that it looked like there was a biochemical disturbance that needed further investigation.  An MRI was scheduled for the next day, which meant Chloe would be under an anesthetic (they would also do a skin biopsy, blood work, and spinal tap at the same time).

The results were conclusive with the CT Scan, there was in fact a biochemical disturbance in Chloe's brain and the spinal tap showed too much protein meaning that for some reason the protein in her body was not being broken down as it should.  Her brain was not producing myelin which is necessary for insulating the nerves against toxins in the body.

What did this mean??????!!!!!?????

It would be another month before we would get a diagnosis for Chloe, they were waiting on a specialized skin biopsy test.  The skin biopsy came back showing that she was missing an important and necessary enzyme, GALC.  Without this enzyme her brain is not able to create myelin and therefore toxins build up in the brain and affect all neurological and motor functions of the body.

Chloe had been diagnosed with a rare and fatal, terminal disease, KRABBE'S (GLOBOID CELL) LEUKODYSTROPHY.

DEVASTATION!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!

Since her diagnosis, Chloe's symptoms had worsened.  Breastfeeding was becoming more and more difficult, Chloe seemed to have such a hard time latching on.  She was also suffering from constipation which I thought might have been making it uncomfortable for her to feed.  I thought this because since birth Chloe had always had her bowel movements during feedings so I thought that because she was constipated that feedings were not enjoyable, causing her to refuse feeds.

We were given a medication to relieve her constipation (Agarol) which moved things along nicely (we never thought we'd be so happy to see POOP!!!), but unfortunately the feeding did not get any better, there was obviously something happening neurologically.  Breastfeeding was becoming a daily struggle, some days it was a challenge to get anything into her (we got to the point where I was expressing milk and using a medicine dropper to put into her mouth, just to hydrate her).  On the days when she wouldn't breastfeed I could sometimes successfully get her to eat a mixture of cereal (& I would put in a scoop of formula for extra calories and vitamins).

Chloe was having more and more difficulty swallowing and was gagging more frequently.  She seemed to have a lot of saliva build-up which may have also contributed to the feeding difficulties.  However, there would still be some days where it was just like old times and she would feed with no difficulty.  On good days I could get Chloe to breastfeed every 2.5 to 3 hours and on bad days she would go without eating for 5 hours, then 6, 7, 8 and it kept getting worse until she lost 1 pound in one week and the doctors suggested it was time for an NG (nasogastric) Tube.

At 10 months they inserted an NG Tube into Chloe which was a tube that went through her nose, down the back of her throat and into her stomach.  It definitely didn't look like a comfortable thing for our poor sweet little angel, but there was no other choice at this point, she just wasn't getting enough nutrition in a day and her weight was a concern.  Chloe was placed on a waiting list to have a G (Gastrointestinal) Tube placed in her stomach which would require surgery but in the long-term would be a more comfortable for Chloe and easier for us to feed her.

Since the G-Tube was placed our little girl has gained back the weight she lost and feeding is much easier.  However, we have also noticed that the disease is progressing much faster than we anticipated.  Chloe rarely smiles now and cries anytime there are other people around or if there is too much noise or overstimulation in the room (the week after Christmas Chloe was crying what seemed like 20 of the 24 hours - once she is overstimulated it takes a long time to get her calmed down again).  We started her recently (at 11 months) on a medication, Clonazepam, for her muscle spasms, rigidity and irritability.  The Clonazepam has definitely relaxed her muscles and she no longer has her little hands in a fist anymore but she is still very irritable when there is too much noise or over-stimulation.  It is just heartbreaking to see a child who smiled, laughed, and seemed so content turn so drastically into a child who seems to be in so much discomfort.  I would give anything to be able to put a smile back on her precious face.  I miss that beautiful smile that used to light up her face.

Chloe just celebrated her 1st birthday and we are just praying and hoping that a cure is around the corner.  Chloe deserves so much more than this.  She has filled our lives with a LOVE we never could have imagined.  She is our light, our life, our inspiration.  She gives us so much more than we can ever return.  Please help us to find a cure for this devastating disease so that our beautiful children have a chance to smile again.