0-4 Months
Alexander Dalpe was born on July 8, 2005. It was a normal full term
pregnancy, with a 3 1/2 hour labor and delivery. He was born naturally with
no use of pain Medications. Besides a little jaundice, Alex was a beautiful
7 lb. 8oz. Baby boy. He is the last child of four. He has an oldest
sister Jordan who is 13, another sister Angela, who is almost 8 and a
brother Billy who is 51/2.
As days and weeks passed Alex grew as he should.
He hit milestones and everything seemed as normal as it did with my other
two children as infants. There was absolutely nothing abnormal or out of the
ordinary except that his startle reflex seemed to be more pronounced and
more frequent than our other children as babies.
November 14, 2005 was a day that will forever be
etched in our minds. I will no sooner forget that day, than I would the
birth of our children. This day started as average as the next, and ended in
an event that no parent should ever have to witness. Before I continue I
should add that my husband noticed that on this particular night that Alex’s
startle reflex was stronger and more frequent than it ever was. It was
exactly 7pm and all the children were playing and reading books. I decided
it was time to get Alex into his pajamas. I scooped him up in my arms and
went off to his room. I gently laid him down to change him, when suddenly
his eyes rolled back and upwards then his whole body went stiff and began to
shake. The only thing that I can think to compare it to would be
electrocution. I screamed for my husband to call 911 as I frantically
grabbed a blanket and ran downstairs to the door waiting for help to
arrive.5 minutes felt like 30 as we helplessly waited at the door. Shortly
before the EMT’s arrived, his seizure stopped. He looked up at me totally
dazed and exhausted. Alex’s eyes then shut and his whole body went limp. I
was terrified (not knowing that this was a very common occurrence
immediately following a seizure and is called the postictal period).
We had the rescue bring us to Hasbro Children’s
Hospital where, in the ER, he had yet another seizure. Watching 2 nurses try
over and over to get an IV into the tiny veins of Alex’s arm was more than
we could bear not to mention the Lumbar Puncture he received. All the
doctor’s could come up with was that they thought it was probably a onetime
event, possibly from a fever or his immunizations. We were temporarily at
ease.
4-6 Months
At 6 months
old almost exactly 2 months from his first seizure Alex had another seizure,
another 911 call, another trip to Hasbro, another IV event, another Lumbar
Puncture, and being very scared yet again. At the hospital it was another
long night of watching the clock, watching our baby and his multiple
monitors. And as before He had another seizure in the ER, The doctors kept
coming in and asking the same questions over and over again to try to get to
the bottom of the cause. All of the tests done were normal. The answer we
received was that Alex has a seizure disorder…….Epilepsy. That diagnosis
took our breath away.
We found a recommended local neurologist and
Alex was put on Phenobarbital an anti-seizure medication.
6-8 Months
As the days passed we were constantly on
alert, wondering if, when or where, he may have another seizure. Well at 8
months old he had another round of seizures one at home and one in the
hospital. It seemed that a pattern was developing. The only thing that was
different this time was the first seizure didn’t stop in 5 minutes. This one
lasted 45 minutes! The second seizure in the hospital put our little Alex in
the Trauma area in the ER with EVERY available nurse and Doctor pouring over
Alex. Our poor baby boy just lay in the Trauma room getting stuck everywhere
with needles, oxygen mask in place,
heart and oxygen monitors everywhere, Dilantin
and Ativan (anti-seizure meds.) and all we could do was stand by and watch
and pray. This time we were in the hospital for a week. It was not only the
extremely long seizures, but he also had RSV .He was in the PICU for 3 days
out of the 6. I slept at his bedside updating my husband as often and as
best I could while he was home caring for our other two children and wanting
to be at the hospital with Alex at the same time. They upped his dose of a
seizure medication and they periodically gave Alex deep suction treatments
so that he could breath more easily. Watching your baby getting a deep
suction treatment is indescribable. Unfortunately, the RSV has left Alex
with a mild case of asthma.
After Alexander was discharged, we took him for
another EEG. It was normal. This made no sense to us…with all that has
happened there has to be an answer somewhere. The neurologist defined it as
generalized epilepsy which at that time seemed like a reasonable diagnosis
but, we, as parents knew that we needed to do more, to dig deeper for
answers as to what was causing the seizures.
Our pediatrician referred us to a wonderful
Neurologist at Boston Children’s Hospital. This was when we met Dr.
Bourgeois. We knew right away that we wanted him to be Alex’s primary
Neurologist. He did another EEG weeks later which again came out normal. He
assured us that Alex did have Epilepsy, and if it continued we would do
another EEG in a month or two. When Alex had his second round of EEG’s while
under the care of Dr. B, something different showed up. There were definite
abnormalities this time. At this point, Dr. B. decided to try Alex on
another seizure medication.
Seizures were still coming despite the added
medication and we found that finding a cocktail for Alex’s seizure control
was not going to be easy. A third med was introduced; this one gave Alex a
negative effect so we took him off it within 2 weeks. The seizures were
still coming and more frequent now. Dr. B. gave us a prescription for
Diastat which is a medication that is administered to Alex at home when he
has seizures which do not stop on their own which is the case with ALL of
Alex’s seizures. The Diastat is like a valium that we treat him with
rectally and reduces our trips to the ER. If the seizure still continues
after 2 doses of Diastat we need to call 911.
8 to16 Months
The hospital visits were still occurring, just a
bit less frequent. We only went to the hospital when absolutely necessary
such as an extremely long seizure that did not stop, or because his
breathing would stop during a seizure. In these months we noticed several
different types of seizures surfacing and learned all of Alex’s triggers.
They are:
·
When he is tired
·
When he is overexcited
·
When he is out of his “comfort zone”
· A sudden temperature change
which means we need to be super careful with baths, the cold winter and the
hot
summer. Forget about a pool. The sad part is that Alex loves the water.
·
Heavy concentration
One seizure type that has become more prominent
as time has passed is his myoclonic seizures. In the beginning we thought
they were just “twitches” or a startle reflex. They seemed to happen right
before a Tonic Clonic seizure (Grand Mal). It was almost like a warning or a
red flag that a seizure was on its way. Little did we know that they were,
in fact seizures themselves. We only officially found this out November 2006
with a 24 hour video EEG we had done in Boston. To date his myoclonic
seizures range from 50 on a good day and 200+ on a bad day. These seizures
are brief, but strong.
Dr. Bourgeois had a plethora of blood work done
when we were in the hospital in Boston. We did not know then that he already
had clinical diagnoses for Alex. He did not inform us of this until he had a
positive test result back from the lab, confirming his diagnoses. He phoned
us immediately when the results came in. We finally have an answer. It isn’t
a good one but it is an answer. He told us, on January 9th
2006, that Alexander had tested positive for the SCN1A gene mutation along
with Dr. B’s clinical diagnosis, resulted in a Dravet syndrome diagnosis.
After relentless hours of research, we found
that Dravet Syndrome or SMEI usually has a poor outcome. Knowing that our
baby has a rare disorder with less than 500 cases recorded worldwide is
definitely not a comforting thing. Knowing that there is no cure is very
distressful and our best hope is for good seizure control and encouraging
steady therapy with his development. Our biggest fear is a plateau or worse,
a regression in his development. Ataxia or other physical problems such as
mental retardation are possible.
Alexander is a very happy boy who knows nothing
but happiness and love. He is very active and is always on the go. When he
is mobile he wears a very stylish back hockey helmet to prevent serious head
injuries from countless falls he has due to his numerous myoclonic seizures
he has daily. They are brief; however, they do a lot of damage sometimes.
Alex received 6 stitches in his chin from a brief fall from a myoclonic.
(Dad calls them M-Dogs. It is hard not to nick-name something we witness so
often) we praise his helmet daily, knowing it has saved little Alex from
numerous stitches and concussions. Alexander’s “physical activity” needs to
be monitored and limited. Although he would keep going and going, Alex gets
overworked with minimal play and can easily have a seizure if he doesn’t
stop for periods in between.
16 to 24 Months
Though we have a diagnoses Alex’s seizures do not stop. The best way to
describe seizure control would be “experimentation” .Unfortunately Dravet
syndrome is known for its resistance to medication for seizure control.
Either the seizure meds do not work at all or they stop working after a
period of time. In some cases, medicines can actually make the seizures more
frequent or worse. Alex has been on Phenobarbital, Keppra, Clobazam,
Klonapin, Zonegran, Dilantin and of course Diastat for emergency status
seizures. He continues to be on the Keppra , the Clobazam and Phenobarbital.
We use the diastat in emergencies of seizures that last more than 5 minutes.
Luckily we do not see the “big” seizures more than 1-2 times per month.
However, Dr. B. wants us to keep tract of his myoclonic seizures which is a
very difficult task. I think in a day, Bill and I lost count after 500. We
are going to Boston in July to start the Ketogenic Diet. We are hopeful that
this will help give us more seizure control than we have had without the
constant adding and removing of drugs into our little boy’s body. It seems
at times our little Alex is a Guinea pig. Fingers crossed.
2 years to Now
Well we were admitted to Boston Children’s Hospital soon after Alex’s 2nd
Birthday. We began right away by fasting the night before to the next day of
admission. Soon
after, they began with Ketogenic shakes which basically consisted of a
formula that is balanced to a ratio consistent with Alex’s weight, and age.
The ratio they started him on was 3.5:1 ratio. This simply describes that
there is 3.5 grams of fat for every 1 gram of protein and carbohydrate. This
diet is extremely strict. Beth was trained to measure and weigh everything
right to the tenth (.1) of a gram and how to test his ketones. His calories,
carbs, fats, proteins and fluids need to fall into an exact weight or
number. We were in the Hospital for 7 days. The beginning was really rough.
Alex shocked the Keto- Team by going into what they call Ketosis almost
immediately. This was good and bad. Bad because the shock of extremely high
ketones
was making him acidic. Acidosis is when the acid in the
blood becomes very high. This made Alex extremely lethargic leaving him not
wanting to eat or drink. The Dr. started him on something called Bicitra .
This was to help balance the acid levels .Thank goodness it worked; now this
is another med for him to be on daily. During our Hospital stay we dealt
with a few speed bumps. There were several days and nights of vomiting. This
is why our stay was 7 days instead of 5.We went home feeling confident that
Beth could prepare and weigh meals and snacks properly and hopefully we
would see some improvement.
Because of this new diet/medical treatment we started on a 4 week schedule to Boston Children’s Hospital for what they call Keto-Clinic. There Alex is weighed, measured and we go over any questions issues, etc. They also do a lot of blood work and urine samples to check all of his levels. This is extremely important with the diet because of the different side effects the diet may cause. Besides keeping track of his medication levels, they need to watch his blood acid levels, his kidney and Liver functions and his cholesterol along with a lot of other varying bodily functions. The diet has known to cause several different problems if it is not monitored properly. Such as long term effects of high cholesterol and triglycerides, growth retardation due to protein deficiency, vitamin and mineral deficiencies, Constipation, Kidney stones, Elevated uric acid, Impaired immune defenses, Metabolic acidosis, and Liver failure. But the good this diet is doing, for right now, outweighs the bad. So far, thank goodness all Alex has developed is a Carnatine deficiency (protein) which has forced us to give him yet another med/supplement called Carnitor. And the ongoing battle with his low immune system which has always been an issue. We were however able to erase Phenobarbital from his medication list because of the diet. Alex’s myoclonic seizures have reduced significantly, At least by 90%. This alone has made all the work of the diet worthwhile. The only “Big” seizures we have seen have been with illness. This diet thus far has been our best decision. We can honestly say it has improved his development, concentration and seizure control. It truly has given us hope.
The only speed bump we have encountered is with Alex’s immune system. It is fragile. We have toughed through a very difficult double ear infection at the end of November. This unfortunately caused several seizures and trips to the hospital, a perforated ear drum and an increase with his myoclonics. This has put us a few steps behind in our battle with seizure control. Alex‘s sleep has never been too good. This too is an issue with Dravet. But since the latest infection in November, I have not slept in my own bed a full night. Alex has been experiencing clusters of seizures in his pre-waking hours. And gradually these clusters are happening throughout the night. There is no given time or reason for them. Because of this, Alex’s Keppra was increased. All this really seemed to do was give him an abundance of energy which never seems to go away. So the next action was to move his clobazam around which slowed the pm seizures, but now his late afternoon into evening is filled with myoclonics once again. The most recent change was the ratio on his diet. The Dr. suggested we change Alex from a 3.5:1 ratio to a 4:1 ratio. We are hopeful that Alex will regain control. The diet has been so wonderful for him so far that if his body was to reject it now, we would be fearful to go back to square one.
If God brings you to it, He will bring
you through it.
Happy moments, Praise God.
Difficult moments, Seek God.
Quiet moments, Worship God.
Painful moments, Trust God.
Every moment, Thank God.