Robin-Leger Clarence DuPerron

Life with Krabbes Disease, Leukodystrophy

Krabbes is a genetic disease, branched from Leukodystrophies, passed by both parents.  It is not gender specific.  Any child conceived has 25% being affected, 25%  being a non-carrier, and 50% chance of being a carrier.  A carrier in not affected.

The disease is an error in the genes that does not allow nerve development in the brain.  In Krabbes, it is not necessarily the amount of enzyme in the body which will determine the course the disease will run, it is the mutation of the disease that will determine it. Most children will have a common mutation, and there are 3 or 4 of them.  However, there are undiscovered others.  The area most affected by this is the Central Nervous System. The CNS controls such things as breathing and body temperature; automatic in body functioning.  These affect so many others, seizures can occur and digestion is inhibited. Without these basic things, a domino effect is created.  Poor muscle control and rigidity,  prevents children from acquiring and retaining the basic milestones.

Robin-Leger Clarence was born on May 10, 1998, Mothersí Day.  He was, as we thought, a perfect 7 pounds- 8 Ĺ ounces and 19 inches in length.  He had long, thick, and beautiful dark brown hair and deep brown eyes.  As an added bonus, he also was born with a tooth. Oh, the joy of nursing. 

 For the first two months he seemed to be progressing, in my opinion, a little bit behind, but otherwise normal.  I say this because I have four children and I believe I know what to expect at different stages.  I said to myself, ď Okay self, he is a boy and boys are suppose to be a little bit slower than girls.  He will catch up.Ē  Little did I know that he was dying.  Then what came was that ever known ďcolicĒ everyone talked about.  Bob and I would spend hours pacing the living room with Robin in our arms, trying to get him to sleep.   I thought I was paranoid when I was taking him to the doctors every second week.  Telling them that there was something wrong.  He wasnít eating very much, crying all the time, sleeping for an hour or two, not having many dirty diapers, and I was holding him all the time (every time I tried to lay him down, he would start crying again.) It was hell and no one was listening to me.  And he was getting worse. For example:  At 4 Ĺ months Robin had just started to roll over, holding his head by himself , and reaching for objects in front of him, and smiling all the time. Within the span of days, he lost them all.  The hardest was the smiles.

Feedings become a challenge. The body is having trouble keeping food down and digesting it at a normal rate. (Robin would eat a meal and throw it up several hours later. The stomach just wasn't moving it through.) Due to this complication, "failure to thrive" becomes a concern. (Robinís first stay at the hospital was for this reason.  This is when the tests begun.) I t so happened to be my birthday when he was admitted to the hospital for the first time.  Oh yes, this is the place I wanted to be.  During this stay they did some preliminary blood tests and assessments of his mental and physical developmental stages, he was assessed at a one to two month infant level.  They also performed a CAT Scan.

 Some children may lose the ability to eat by mouth altogether and nose-to-stomach / NG tubes or stomach / G tubes are used. (Robin had a NG put in place two and a half months after the onset of symptoms. In his short life, he had two bouts of Pneumonia, caused by aspirated food. He started taking Cisapride to help the food move faster through his digestive track)

Children with, classic infantile Krabbes, begin to present symptoms between 2 and 9 months. Early symptoms include irritability and rigidity.   Robin had difficulty sitting in a car seat or layette chair.  His legs and arms were stiff like a soldier and wouldn't bend. The hands, become locked like fists, the thumb tucked inside of the hand. (Robin-Leger clenched his fists so tightly at one point, he was breaking fingernails off into his hand.) 

Most children develop pneumonia several times in their lives.  

Please note, that in our case, Robinís immune system was extremely low. While he was in the hospital for the second time, rushed by ambulance on the 27 October with aspirated pneumonia.  I had woken up at 5 am to feed him, because he was on a very tight schedule set by the dietician.  When I went to check on him I had noticed that he had thrown up and his breathing was labored.  On closer examination he also looked a little gray.  He was in trouble and needed help, that I couldnít give him.  I was lucky that my girls were, for some unknown reason, up watching TV.  I packed them up and headed for the nearest emergency room.  I had to contact my husband, Bob, who was out on a military exercise.  And my girlfriend to come and get the girls for me.  Bob showed up an hour later and my friend had come and taken the girls home.  The doctors had finally gotten an IV line into Robin and he was rushed by ambulance to another hospital, where they incubated him and gave him some anti-seizure medication, they said were caused by the high fever, 40 plus degrees Ferenhiet.  Once they felt that he was stabilized enough they took him to yet another hospital, by ambulance.  He was incubated for a few days, until they felt that his pneumonia was being controlled enough to see if he could breath on his own.  He did and then they moved him out of the ICU and into the pediatric step down room, where he remained for the duration of this stay.  There the doctors did uncountable tests.  Some were: spinal tap, skin biopsy, eye exam, and some many blood tests poor Robin looked like a pin cushion.  They felt that they could never take enough blood.  When we were told of the doctors suspicions, after dragging it out of them.  We were told that once he was well enough to go home, to love him and make him as comfortable as possible, until he dies.  I cried for 30 hours straight.  I never left him and all I could do was sit, in that rocking chair, looking at my son trying to sleep, and the tears running down my cheeks.  I think I finally stopped because I actually ran out of them.  Then I said to myself, ďOkay you, smarten up, now that you have wasted all that time bawling,  letís focus on the next step.  Letís get Robin home where we can give him all the cuddles and kisses that we can muster.Ē   He was also battling a severe diaper rash that looked like blisters,  was not going away easily.  The nurses were using a cream that was meant for cancer patients and pure oxygen to get it to heal.  My belief now, is that the rash was caused by the fact that Robinís food was passing though his body with high levels of stomach acid, which caused his behind to have what looked like open sores or burns.  He received his first NG tube during this stay.  This one didnít stay long.  He was tested for reflux, but the tests were inconclusive.  However, they prescribed Cisapride for him, to help process his food faster.  We were still in denial and I found by not giving it to him all the time he actually kept more food down.  That is to say, he would only throw up half of what he ate at a time instead of all of it.  But in Robinís case, no sooner did it go in, it came right back out anyway.  This was a constant battle.  I did laundry everyday just to keep up with the towels we used for wiping up his vomit.  We found that receiving blankets were just not big enough.  We were also waiting to have a MRI done, but the annestisist wouldnít put him under until his pneumonia cleared up.  And ever time we had a date, for some reason or another it got cancelled.  The doctors were more upset than we were.  My thinking now is what could or would it have changed?  Nothing.

The other thing I must mention is, after we returned home from the hospital, we were told that Robin also had the chickenpox.  They had to quarantine the ward at the hospital.  I actually had to laugh.  Some sort of small victory.  Let them be punished for putting Robin through so many tests.  I donít know what I was thinking.  But it made me happy to see the hospital in this dilemma.

 The third and last time he was in the hospital, it was for an infection in his hip, requiring surgery to drain the fluid. Robin went to Kingston General Hospital on Dec 3 with an exceptionally high fever for four or five days, and a possible dislocated hip.

Robin had surgery on his hip to drain the infection. He also had pneumonia again. Oh, not to mention, he also had a cold.  They had him in ICU, incubated.  He had a ventilation tube down his throat to keep his airway clear. They were draining the secretions off his lungs and they left the tube in overnight because his previous admission was an aspirated pneumonia, they were afraid it might happen again. They excubated (removed the ventilation tube from his mouth) in the morning. He was on IV antibiotics to fight the infections. They said he might be in the hospital for up to four weeks.

We were still not sure, but hopeful to find out more information in the morning.  If he stayed in Hospital, he wouldnít be home for Christmas, but we were going to do whatever it took, to bring him home soon.  I went on Sunday to relieve Bob so he could go back to work on Monday.

As for the test results we were still waiting for, Bob was at the hospital, so in the morning he was going to be asking questions. Our worst fears might have been confirmed.  He had been diagnosed with Moderate Cerebral Palsy.  That meant in the long term that he might never walk, but he did vocalise, so we thought there was a possibility that he might have been able to learn to speak.  It looked like we had a long challenging road ahead of us.  We hoped we were up to it.  

We left the hospital on the 18th of December. We had done it.  We were going to all be at home for Christmas.  The catch was Robin came home with an IV line in his arm and NG in place.  We had said we would be willing to do anything.  A nurse was set to come once a day for the next three weeks to administer and change the antibiotics that he needed to treat his him infection.  Well Christmas Day came and went, but in the wee hours of the morning, Boxing Day , 1230am we had to call the nurse to come.  Robinís IV line was leaking.  This couldnít be happening, the girls had gotten up a three in the morning Christmas Day, so we hadnít had much sleep in the last 48 hours.  After she showed up and made some phone calls.  No Local hospitals wanted to deal with this IV problem so we were on our way to Kingston General Hospital at an hour and a half away.  Now it is four in the morning and we wait in the emergency room.  Finally, our turn.  After doing the normal stuff they have a look and decide that they can salvage the line.  Yes, now we can go home.  It is 7:30 am and we make our way back home.  Home at 9:30 am.  Called the nurse to come and start the antibiotics.  She arrives at 10:30 am.  Guess what, she canít flush the IV.  She calls the local hospital and explains the problem.  An hour later Dad takes Robin to the local hospital.  1:30pm, Dad calls to say that they have decided to take out the IV line and give him an intramuscular injection.  My sister was arriving soon, no time for a nap.  I am just about to loose it.  I havenít slept in almost three days and my emotions are running just about out of control.   Dad and Robin get home just in time to meet my sister and her husband for the first time.  We get some pictures and they are off.  Robin is finally asleep and I lean on Bobís shoulder and the next thing I remember is I wake up lying on the couch, several hours later.  This is not a day I care to repeat.  

One final symptom is unexplainable fevers. There is no apparent cause.  The body can not control body temperature.   Higher temperatures arise during the early stages.  In the final stages of this disease, the temperatures drop below normal.  Robin would get so cold to the touch that we had to wrap him in two or three blankets at a time and put a winter hat on his head just to try and bring his temperature up.  This occurred in the last three weeks of his life.

Some children decline rapidly, others stabilize.( For Robin, from the onset of the initial symptoms, it took six months for this disease to run its full course and consume him.  However, His official diagnosis was given on the 13th of January 1999, and he passed away on the 19th of January 1999; at 8 months and 9 days old.)

In the later stages, children may lose eyesight, hearing and experience paralysis. (Fortunately, Robin was still able to see a little and hear before he passed away.)  Prolonged weight loss may also become a problem. In the last few weeks before Robin died he had lost almost 4 pounds.

            In the last three weeks before Robin died, he had become very lethargic and quiet.  He didnít seem to be in pain nor did he have seizures.  He would still look at you and relay that he wanted to be held.  In his last couple of days he didnít seem to be fighting the disease anymore.  He didnít throw up anymore and his stools had become very loose, as if his body wasnít even trying to digest his food.  The day before he died, he had a spell where he had stopped breathing for about 30 seconds, at 7am.  When the nurse came at 10 am his respirations were down to 10 breaths per minute. (I knew it wouldnít be much longer.) I called Bob at work and told him right away, we needed to make an appointment with the pediatrician to arrange for the DNR we had been putting off.  The day Robin died, I took him to see daddy at work, which I didnít do very often, but I wanted him to spend some extra time with Robin.  Then when Bob had finished work, I went to pick him up, which I also didnít do very often.  We made some stops before we came home.  One was at the Funeral Home to pick up a card to start making those unmentionable arrangements we knew had to be done.  Robin had been struggling all day with his breathing, I knew the time was coming.  After we arrived home, I was trying to get supper ready and Bob was shoveling the driveway.  I told him that I needed him to come inside to sit with Robin so I could prepare the meal for the girls.  They had to eat.  Bob took Robin into his arms and was talking to him.  This was at 6:30 pm.  Robin was still fighting for breath and Bob took out the suctioning machine, we had only gotten the week before and tried suctioning Robinís mouth and throat out to no avail.  And at 6:37pm Robin had stopped breathing.  He was gone, passing away at home in daddyís arms and mommy right beside him.  The way he had wanted.  The way we had fought to have it.  No more pain.  No more suffering.  He has gone to the waiting open arms of his grandfather, Leger and his great-great-grandmother, nana Burke.

Exploration into cord blood and bone marrow transplants is at the experimental stage. Itís purpose: eradicate the disease.  It may not make the child better. The brain has to remyelinate itself.  It may never happen. Even if it does, the functions that are lost may not be regained.  Once the area of the brain has been damaged, it cannot be repaired.  Therefore,  for those presenting too many symptoms, it is not an option. 

The disease eventually affects the entire brain.  The nerves not being used, begin to die, areas of the brain also die.  This is a terminal illness. Without proper brain functioning the body dies. 

There is no cure, but with the help of  donations we can assist in the research of this and other rare diseases, to help find a cure.  This is the same disease that has affected Jim Kellyís, an ex-quarterback for the Buffalo Bills, son Hunter.  Their Foundation for research is Hunterís Hope.   There is also:  Judsonís Helping Hand, to assist in any way for families going for tests and transplants.  For more information you can email me at: theppumpkinfamily@email.msn.com  

Or send a letter to:

The Pumpkin Family

C/O Bob & Tammy DuPerron

199 Glasier Rd

Fredericton, NB

Canada