Medical Log
Although we work hard to ensure that
Caela is not defined by her medical complications or her physical
differences, we do know that part of knowing Caela is understanding her
challenges and becoming familiar with the reasons she is physically
different than most kids. We
thought we’d take some time to tell a little of the medical side of
her story in an effort to help others understand her better and in the
hopes that maybe it will help other parents who might be going through a
similar experience. We have had so many of our questions answered by
other parents who have shared medical details about their own children,
so we hope to be that kind of resource for someone else.
We obviously are not doctors ourselves and will be explaining
things in lay terms the way we have come to understand them, but we have
learned a great deal through this experience and are happy to share.
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| 1st
Year of Life
|
2nd
Year of Life
- June,
2002
- July/August
2002
- Fall,
2002
- January,
2003
- March,
2003
- Spring,
2003
- August,
2003
- September,
2003
- November,
2003
- January,
2004
- March, 2004
|
3rd
Year of Life
|
1st
YEAR OF LIFE
Caela was born after a healthy, full-term
pregnancy. We gave birth to
her on her due date unassisted at home after a very short labor.
The EMTs promptly arrived within minutes and we spent the
standard 48 hours resting at the hospital.
It was an exhilarating and unforgettable experience and one that
has not been linked in any way to her current medical problems.
Within a few days of her birth, we noticed subtle differences
between Caela and her siblings during infancy.
She made no noise, moved very little, rarely looked around at
things or people in her environment, and had difficulty breastfeeding
effectively.
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Caela had lots of trouble gaining weight
right from the beginning. When she slipped back to her birth weight of 8lbs 2oz. at 10
weeks of age, she was hospitalized for the first time at Thomas
Jefferson University Hospital for a little under two weeks. She underwent her first neurological work-up, which revealed
no obvious brain damage, but did result in her being categorized as a
baby with congenital
hypotonia. This
term means that her muscle tone was very poor and she kind of looked
like a little rag doll, with very little “starch” in her tiny frame.
Nutritionists worked on supplementing her diet of breastmilk with
high-calorie formula in an effort to increase her weight.
They also explained to us that Caela could be described as a baby
with failure-to-thrive,
essentially meaning she was not growing with the normal caloric intake
for an infant her age. As a
result of these general diagnoses, Caela was referred to Early
Intervention so that she could receive the services of a Physical
Therapist and Speech Language Pathologist.
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When Caela was five months old, her
pediatrician referred us to the Diagnostic Referral Service at the
Alfred I. Dupont Hospital for Children in Wilmington, DE.
This team of amazing docs specializes in finding diagnoses for
kids who have rare conditions or don’t easily fit into any existing
medical category, both of which probably apply to Caela.
Again Caela was hospitalized for weeks, undergoing more treatment
for her poor nutritional status and going through the first of many,
many diagnostic tests that were to come.
After a few weeks, she improved and we went home.
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Six weeks later, we were back for more of
the same. This time she was
diagnosed with gastroesophageal
reflux, a.k.a acid
reflux. A nasogastric tube (NG tube)
was introduced to help send food more directly into Caela’s stomach
and so as not to stress her severely weakened suck and swallow.
An NG tube is a plastic tube about the width of a spaghetti
noodle that we would insert up through her nasal passages, through her
throat area, down her esophagus, and into her stomach.
Caela couldn’t stand having this tube taped to her face and
winding up her nose, so we got almost daily practice placing the tube
for her feeds after she would yank it out. We did have limited success feeding her very small amounts of
baby food orally while treating her with medication for reflux.
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Within another two weeks, we returned to
Dupont, unable to get Caela to put on much weight.
Caela was now 8 months old and just under 11 pounds.
After much prayer and many discussions with our doctors,
therapists, and other parents, we decided that it was time for more
serious intervention. Caela
had surgery for the first time. This
procedure, called a fundoplication,
prevents acid reflux by wrapping the stomach around the bottom of the
esophagus. When the stomach
fills, it closes off the esophagus, making it nearly impossible for any
stomach contents to come back up. In
addition, she had a gastrostomy
tube (G tube) placed, allowing her feeds to go directly into her
stomach and requiring no caloric output on her part to do so. It also gave us the flexibility to feed her a very high
number of calories to help her grow.
All of the food going through the G-tube must be liquid and is
controlled by a pump and timed on a schedule set out by Caela’s
doctors. During this hospitalization, the surgery team also removed a
small piece of muscle tissue for a frozen
muscle biopsy that could
uncover more clues as to what might be causing some of her difficulties.
After three weeks at A.I., we were discharged on Christmas
Eve…the best Christmas gift ever!!
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We returned to the
hospital twice more before Caela’s 1st birthday to handle mini-crises
in nutrition. By this time,
Caela was making important strides in therapy, like producing a range of
sounds, tracking objects with her eyes, moving her arms and legs, and
smiling. Through the
generosity of Easter Seals of Montgomery County, PA and a lot of legwork
on the part of Caela’s PT, Caela received her first major piece of
adaptive equipment during this time.
It was a stander, a device that allows Caela to stand straight
up, held in by straps that support her upper and lower body parts.
She wears braces in order to support her calves and feet in the
upright positions, and in this way gets to experience the feeling of
weight-bearing and vertical positioning.
She also started receiving the services of a Special Instructor,
an expert in cognitive functioning and development.
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2nd
YEAR OF LIFE
Over the next few months, Caela’s
fundoplication herniated and her reflux returned gradually.
One night, Caela had a reflux episode and she aspirated
on some of her stomach contents. This
means she inhaled them into her lungs, causing aspiration
pneuomonia. She
spiked a dangerously high fever and had a lot of trouble breathing.
Needless to say, we rushed her to the ER, where they started
treating her immediately for the pneumonia.
Since she was unable to use her G-tube without a functioning
fundo, a J-tube was placed as a
temporary alternative. This is a tube inserted into her jujenum, the
first part of her small intestine, so that food would go down without
ever getting near her esophagus and avoiding the possibility of reflux
altogether. However, Caela
had trouble tolerating this kind of feeding.
Her mouth began to fill with excess saliva and secretions,
causing her to cough and wretch uncontrollably for long stretches of
time. Doctors then moved to
IV nutrition called Total Parenteral Nutrition
(TPN). This delivers
liquid nutrition into the blood stream through an IV site.
It is often highly effective for helping individuals gain weight
but carries serious risks of infection and requires a complicated,
multi-step process to administer. This
liquid diet is carefully calculated and mixed to fit each patient’s
needs. Caela gained almost
4 pounds in about 5 weeks on TPN, the largest single growth spurt of her
life to date. She also got
really sick with two infections of her central line sites and had to
have three separate sites introduced during this period of time.
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Finally, Caela was strong enough to undergo
major surgery again, and again the fundoplication was repeated so that
she would be unable to reflux and she could once again be fed through a
G-tube. During the surgery
recovery period immediately after the operation, Caela had trouble
waking up from the anesthesia, and she coded on the OR table. This means she stopped breathing and was placed on a
respirator in the Pediatric Intensive Care Unit (PICU) for the next 36
hours until she was awake enough to breathe on her own.
Little did we know, however, the roller coaster had still not
come to a halt. A week
after the surgery, while taking a nap in my arms, her surgical incision dehissed, meaning her
wound re-opened! Thankfully, the nursing team quickly jumped into
action, making sure Caela’s intestines stayed moist and warm until she
was rushed into surgery about an hour later.
Caela’s surgeon found that because of her compromised
nutritional state, Caela could not heal properly, and her paper-thin
abdominal tissue had ripped away from the stiches, leaving them intact
on the other side. He repeated the surgery, doing all he could to secure the
stitches and close the wound tightly.
After that, all we could do is wait and pray that she would heal
properly, which she did. Once
she was able to ingest the amount of calories she needed to continue
growing, we went home after almost three months in the hospital.
Coming home was never so sweet!
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A few weeks later, Caela began trembling in
her hands and feet. Over the next few months, these movements would increase to
all parts of her body and eventually lead to full-on muscle spasms.
At times, they are very intense and seem to be painful to her.
Caela was hospitalized twice so doctors could work on diagnosing
these movements and controlling her oral secretions, which often made it
difficult for her to breathe comfortably.
It was also around this time that Caela’s hard work in therapy
started to pay off. She began taking small amounts of applesauce by
mouth (about 1 tbsp. per day).
Caela also acquired her very first wheelchair in a little
person’s size. It’s
called a KidCart and basically looks like an adapted stroller.
It is designed to give her the support she needs throughout her
body to sit up properly. In
addition, an Occupational Therapist joined Caela’s therapy team to
assist with her upper-body strength and motor skills. Over these four months, Caela gained 4 more pounds, putting
her at a whopping 20 lbs. and in size 2T clothing, a clear victory for
everyone working so hard to help her grow.
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Caela had her first seizure on January 15th.
It looked very similar to the muscle spasms she had been
experiencing for months before, except that she completely lost
awareness during the episode and for several minutes afterwards.
A few days later, four more seizures followed, the last of which
she had in the ER. She was
given strong seizure medications to prevent subsequent episodes that
could cause brain damage, and slipped into a drug-induced coma-like
state for the next five days.
Due to her irregular way of metabolizing drugs, she had produced
an inordinate amount of sedative by-product that kept her asleep during
this time. Doctors
ran all kinds of tests to make sure she was okay, and she seemed to be,
so we watched and waited and prayed and, slowly but surely, she came
back to us. What a
long week that turned out to be!
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Caela went home on a seizure medication that
left her minimally groggy, and also seemed to calm her random movements
and muscle spasms. However,
over time, the sedative in the medicine seemed to affect her more and
more. It became
increasingly difficult for her to manage her oral secretions, making it
too risky to continue feeding her at all by mouth.
On the evening of St. Patrick’s Day, Caela returned to the
hospital for possible aspiration of secretions, fever, and wretching.
Although surgical options were considered for eliminating the
danger of aspiration and pneumonia,
Caela’s doctors took a more conservative route first.
They switched her seizure medicine to one with less sedative, and
it did the trick. Not only
did it give Caela the alertness and strength she needed to handle her
oral secretions, it also boosted her efforts in therapy, resulting in
much-improved head and overall motor control.
By this point in therapy, Caela started to use eye gaze to make
choices, request specific toys and identify people in the room.
To everyone’s delight, she also started blowing raspberry
kisses!
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Although this new medicine helped Caela’s
improvement overall, it did little to suppress her movements and muscle
spasms, so this issue reared its ugly head again.
Caela’s neurologist, who suspects the movements are a form of coreoathetosis,
prescribed another medication, and Caela’s therapists worked
hard to help her gain control and use the skills she did have to
maximize communication and age-appropriate play. Caela's speech therapist is working closely with her t0 incorporate
augmentative communication as a method Caela can use to
communicate her wants and needs as well as inform us about her emotions
and knowledge she has gained. As a matter of fact, Caela and
Danielle, Caela's Speech Language Pathologist, were even featured as the
cover
story in the June 23rd edition of Advance for Speech Language Pathologists & Audiologists.
Click
here to read the article about the benefits of using
assistive technology with kids like Caela.
In addition, we had two very productive meetings
specialists at A.I., a geneticist and a neurologist who specializes in
muscle disorders. Both of
them were recommended to us to help address the big, and so far,
unanswerable question of Caela’s diagnosis.
They were both impressed by the extensive work-up that Caela had
had to date, and each had ideas of their own to add.
This has resulted in more testing and a trip that has been
planned for the fall to Columbia-Presbyterian in NY for additional
muscle testing. By the
beginning of the summer, Caela weighed 21lbs. and was 32 inches long,
putting her, for the first time, at the bottom of the normal range for
length!
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As I write this, Caela is once again in the
hospital for the recurring problem she has with her secretions and
muscle spasms. She is doing
well right now, and doctors are working hard to see how we can prevent another incident like this.
Check back soon for an update on her condition. Thank you all
for your thoughts and prayers.
Update!
In the midst of all of the planning for the benefit, Caela was once again admitted to the hospital for the recurring problem she has managing her oral secretions, which gets especially difficult after enduring long periods of muscle spasms. Thankfully, it was her shortest hospital stay ever and also the longest she’s ever gone in
between hospitalizations. Her strength is back and she is doing well. For those of you who knew she was back “on the inside,” thank you
again for all of your thoughts and prayers. We'd also like to send
a big shout-out to Caela’s nurses and doctors who showered her with attention and love this week. It
helped so much to know she was in such capable hands.
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Using some of the funds raised in the 2003
Caela Farmer FUNd Fest, we took Caela to NYC to see Dr. Darryl DeVivo of
the Neurological Institute at Columbia Presbyterian Hospital. He
is one of the nation's leading experts in doing muscle biopsies (a minor
surgery in which a small portion of muscle is removed for testing) and
diagnosing mitochondrial myopathies. We were referred to him
by one of caela's neurologists at Dupont in the hopes he might be able
to diagnose Caela's condition. During our three days in New York
City, we had an extensive consultation with Dr. DeVivo, who agreed to a
muscle biopsy as well as to test her for Cornelia de Lange
Syndrome. This is a disease in which children have trouble
thriving, have thick, prominent eyebrows, long eyelashes, excessive body
hair, as well as seizures, gastroesophageal reflux, and developmental
delay. The next day, the muscle biopsy and blood tests were
performed under anesthesia. Thankfully, Caela did well under
anesthesia, but had some trouble afterwards with bleeding from the site.
That was a sign of things to come.
Caela's little one-inch scar had lots of trouble healing. It took
three trips to the hospital and almost two months for the incision site
to completely close. She often has a lot of trouble healing due to
her ongoing compromised nutritional status. A couple of weeks
after Caela's scar was completely healed, we heard from the Neurological
Institute that all of the diagnostic tests Dr. DeVivo had performed were
negative. We were relieved that she did not a mitochondrial
disorder or CdLS , but it once again left us with no explanation for
Caela's medical difficulties.
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This was a big month for us...we had spent a
year planning our first real family vacation to Valencia, Spain.
My father is from Spain and my sister currently lives there and was
getting married there on November 29 ,2003. Not only were we
going, but so were my parents, my two brothers, their wives and
daughters, and Tatum's sister, Caela's "Aunt Shelly." We
had spent months ensuring we had made all the necessary arrangements for
Caela, sending formula ahead of time, getting referrals to Spaniard
doctors in case Caela should become ill during the trip, and confirming
with the airline the transport of all of her medical equipment. A
week before we were to depart, Caela started getting sick, manifesting
signs of developing pneumonia, increased secretions, fever, and
lethargy. Dr. Malatack was on top of it, trying to stabilize her
before our date of departure, but instead of improving, she
worsened. 24 hours before we were to board the plane, she was
admitted to A.I. Dupont.
The question was before us...do we stay with
Caela or do we go on to Spain? Do we split our family, does one
parent stay behind and one go? We had never left Caela in the
hospital without one of us at her side around-the-clock. In an
agonizing decision, we left Caela behind in the very capable hands of
her Aunt Shelly, who selflessly forfeited her trip to Spain to stay and
care for her. It was one of the hardest things I'd ever
done, but in hindsight, we made the right decision. We had a
wonderful trip, spent lots of quality time with Daniel and Joycelin, and
thankfully, Caela and Shelly were discharged on the night before
Thanksgiving, so they got to celebrate the holiday with the extended
Farmer family instead of in the hospital.
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The next seven months
were probably the most difficult of Caela's life. Her disease
appeared to progress, especially affecting her respiratory
functioning. It was also during this time that we reached some
important milestones, like the discovery of Caela's diagnosis of Rett
Syndrome, celebrating Caela's 3rd birthday, and our last
camping trip together.
The holidays came and went without incident,
but two weeks into the new year, things started taking a turn for the
worse. It would be the beginning of a road full of unforeseen
twists and turns. Caela went in for an outpatient procedure, a
lumbar puncture (spinal tap) to have her spinal fluid tested for levels
of certain neurotransmitters. Our hope was that the results would
give us a clue to her underlying condition. They did, but not
without Caela getting very, very sick first.
It turns out Caela had been retaining carbon
dioxide for some time, unbeknownst to all of us. When she was
sedated (very lightly) for the spinal tap, she started having
respiratory difficulty. To play it safe, Dr. Malatack thought she
should be admitted overnight for observation. She perked up, then
started to get increasingly groggier over the next 24 hours, a condition
called CO2 narcosis. She developed a fever, and within 72 hours of
the spinal tap, Caela was finding it very difficult to draw each
breath. She was placed on a BiPap machine, a machine which uses
positive pressure to assist respiration. Caela's blood gas was
checked and her CO2 level was close to 100 (normal range is
35-45). Within an hour, it had climbed to 142. CO2 retention
is very dangerous because it disrupts the normal chemical drive to
breathe and changes the Ph of blood to toxic levels. Clearly now
in respiratory failure, she was rushed to the PICU (Pediatric Intensive
Care Unit), intubated, and placed on a respirator.
It was initially unclear why all this had
occurred, but through further testing, it was confirmed that this was a
new chronic problem that Caela had developed, and her doctors were going
to have to figure out how to prevent this from happening again.
The problem was that her CO2 retention was due to a central malfunction,
something not working right in Caela's brain stem. This is
typically much more difficult to manage than a mechanical reason for
retention and hypoventilation. It would prove to be an ongoing
challenge.
Thankfully, Caela was successfully extubated
after 10 days. It was a long 10 days during which we started
really grasping with issues of life and death, quality of life, the
issue of whether or not to move ahead with a tracheostomy to assist her
with breathing, and facing the possibility we could lose our daughter in
a battle like this one. As you all know, Caela is a fighter, and
she fought back, stabilizing her CO2 levels somewhat (in the 50s), and
finally getting discharged in early February, just shy of four weeks
after her admission. She went home on Zantac for increased reflux
and on nebulizer treatments to help open her airway. We also went
home on a daily dose of folinic acid because of some exciting
news. The test that was run
on the spinal fluid collected when she was admitted to the
hospital revealed that she was low in folinic acid, a metabolically
active form of folate (in the same family as folic acid). It is
essentially a vitamin that is used by the
central nervous system. This was the first time we were treating
Caela with anything as a result of a diagnostic test instead of reacting
to a new symptom, so we are very hopeful that this supplementation will
help her improve. It would also be the clue that would lead
to her diagnosis.
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March, 2004
The rest of February passed without much
excitement, except that Caela began to have serious trouble tolerating
her G-tube feeds. In spite of an intact fundoplication, her reflux
appeared to worsen, she had periods of wretching, and she began losing
weight at an alarming rate. Within 3 weeks, she had lost 9 pounds,
30% of her total body weight. She was admitted once again the
first week of March for her weight loss. She had a G-J(gastric-jeujunal)
tube placed. This is a tube which enables liquid food to be
directed either into the stomach or directly into the small
intestine. The theory is that if food is passed straight into the
small intestine, it will be digested more easily and decrease the occurrence
of gastroesophageal reflux. Caela
could only tolerate small amounts of food, so more drastic measures had
to be taken. For the first time since July 2002, Caela had a
central line placed. A central line is like a long-term
intravenous line. It is a catheter threaded deep into a major vein
during a surgical procedure so that the end is near the heart and it can
withstand long-term infusion of Total
Parenteral Nutrition (TPN), a liquid mixture of all the vitamins,
nutrients, and lipids necessary to help Caela gain weight. Central
lines are not meant to be a permanent solution; over time, getting
nutrition this way can cause liver damage, and more dangerous perhaps,
is the risk of infection at the insertion site or in the
bloodstream. However, TPN had been very effective in the past in
helping Caela gain weight; it somehow seemed to sidestep whatever
metabolic malfunction that hindered her ability to grow through normal
means.
So, Caela got her first central line of
2004, spending another week in the PICU after a bad episode of apnea
that caused her to turn completely blue during a visit from Dr.
M. During this hospitalization, she would also undergo
2 sleep studies, including one with a trial of BiPap, to see if this
device could improve her CO2 levels and give her body a break. The
problem was, Caela would have no part of it...she hated that
machine. She hated the way it covered her face and forced her eyes
into a squint, making it almost impossible for her to communicate with
us. She tried to resist the pressure it forced up her nose, and
she couldn't stand being confined by all the straps around the top of
her head and under her chin. She barely slept, and tossed and
turned most of the night.
One more event of significance occurred
during this hospitalization. After getting the results of the CSF
test from Baylor University and learning Caela's folinic acid was
low,
Dr. Malatack continued his search for a diagnosis. Recent studies
at Baylor University and abroad had investigated a link between this
folic acid deficiency and Rett Syndrome(RS), so Dr. Malatack suggested
we draw some of Caela's blood to do a gene test for RS. A
gene test had not been widely available until fairly recently, and
little did we know at the time that there was a research center for Rett
right at AI Dupont.
So...we left the hospital on Monday, March
22nd. On the way home, Caela started wretching and her secretions
increased exponentially, pouring out of her mouth and nose and making
her breathing very difficult. She remained very ill throughout the
night at home, and her night nurse and I stayed up, keeping her airway
as clear as possible and trying to improve her respiration. She
improved slightly by the next morning, but we were still concerned, so
we called Dr. Malatack. He was kind enough to come to our house to
see if he could prevent her from having to go right back to AI.
Fearing that she had aspirated and was brewing another aspiration
pneumonia, he prescribed antibiotics and then sat us down for a
heart-to-heart we will never forget. For the first time ever, Dr.
Malatack told us he feared for Caela's longevity, that her back-to-back
illnesses and her increased difficulty in performing basic functions was
a sigh that her disease was progressing more rapidly than ever. He
assured us that he would not give up trying to give her every chance
possible, but he thought it might be wise for us to make some key
decisions regarding the end of Caela's life, how far we would go in
sustaining her life, and begin gently preparing Daniel and Joycelin for
the possibility of Caela dying at a young age. We didn't know it
then, he gave us a gift that night. He had the courage and
foresight to advise us to prepare, and although it was so difficulty to
face this possibility, it was a important cue to us that our job as
parents might include yet a new responsibility - to prepare to say
good-bye to our daughter. Some of you heard from us that week,
asking for your prayers for strength and wisdom.
We had spent the last few months trying to
figure out the question of whether or not to pursue a tracheostomy for
Caela. In the end, we decided against it. It was a
heart-wrenching decision, but we felt that in Caela's case, there would
be little benefit to her quality of life and that of our family,
especially considering the source of her respiratory difficulties was
primarily central. It was always very important to us that
Caela's quality of life remain very good, that she not live out her life
completely dependent on machines to perform basic functions. That
line is very hard to define, and it is a very difficult and personal
choice. We received wise counsel from several parents and medical
personnel who all generously shared their experiences and points of view
to help us reach our decision, but in the end, we were able to come to
agreement through many conversations and soul-searching with each other
and God. That week in March, we informed the doctors that we would
allow life-saving measures to be taken, up until the point where Caela
might require a trach, with or without a ventilator.
Then...on Friday, March 26, the phone rang
around 4:00pm. It was Dr. Malatack, with the stunning news of
Caela's diagnosis. Caela's DNA had tested positive for the R255X
mutation in the MECP2 gene, the gene which harbors all of the mutations
classified as Rett Syndrome. I was shocked...we had
been waiting so long for this answer to come - I could hardly believe it
was here. Dr. M and I spoke for a while, and he gave me more good
news. There was a world-renowned Rett expert, Dr. Carolyn Schanen,
right at
AI Dupont, and it was her lab that had performed the gene test.
Immediately, I shared the news with Tatum and our extended families, and
we spent the entire weekend glued to the computer screen, surfing the
web and focusing most of our attention on www.rettsyndrome.org,
the website of the International Rett Syndrome Association (IRSA).
IRSA quickly became a resource, a center of support, and a place where
we began to meet other parents of girls like ours. We also spent
time that weekend discussing with Daniel and Joycelin all of the recent
developments, both her diagnosis and the possibility that Caela's life
could end sooner than we had all thought.
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3rd
YEAR OF LIFE
April, 2004
So...within a week, we were meeting with Dr.
Schanen. We met with her for several hours, while she explained to
us the intricacies of the genetics that determined how Caela had been
born. It turns out that Rett Syndrome is a rare (1:15,000)
X-linked neurodevelopmental disease occurring primarily in girls, who
carry 2 X chromosomes, one normal and one affected. Because it is
X-linked and males have only one X chromosome, few males survive after
birth. Rett Syndrome is caused by a spontaneous mutation
that occurs in utero during early fetal development, and although it is
considered a genetic disease because of its link to specific genetic
mutations, it is not a hereditary disease and cannot be carried by other
family members. Caela had been diagnosed as having
"atypical" RS, meaning she did not have many of the classic
symptoms usually associated with this disease. In addition, the
majority of her cells appeared to be functioning using the affected X
chromosome, therefore inactivating the her normal X-chromosome, and
giving her a range of more severe symptoms than most girls with Rett.
Because Caela's form of Rett was both atypical and severe, it was
impossible to place her in one of the classic stages of the disease, and
further contributed to the doctors' belief that she might never get to a
place where her health would improve significantly and she would be able
to thrive. Our conversation with Dr. Schanen further
confirmed that our decision about not pursuing a tracheostomy was the
correct one, since it did not seem to be a solution for any of her
foreseeable symptoms. We were grateful to have such an amazing
resource as Dr. Schanen right at our hospital, and our relationship with
her continues as we continue to look for ways to beat this
disease.
A few days later, Caela developed a severe
line infection that came on very quickly. Upon admission, she was
determined to be in septic shock (her BP was 45/21) and was again rushed
to the PICU and intubated. Her doctors worked very hard that day
to keep her body from crashing altogether. It was hours before
they left her with me in stable condition. True to form, Caela
fought back and surprised everyone with how quickly she
recovered. She was well enough to be discharged from the
PICU and celebrate her 3rd birthday in high style on her favorite unit,
3E. Deluged by birthday cards, balloons, and stuffed animals from
her many fans, she also enjoyed a wonderful birthday party arranged by
the nurses of 3E. She wore a lovely dress given to her by her
grandparents, was visited by her little 1-year old cousin, Bella, and
even a few patient friends of hers stopped by. That evening, we
lit a candle on her birthday cake, sang "Happy Birthday," and
got lots of great photographs.
After a 10-day run on heavy-duty
antibiotics, Caela's central line was replaced. Because of her
poor scarring at the insertion point, the line started to slip out
within a couple of days. Once again, Caela underwent surgery to
put in a new line, and we were finally headed home.
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May, 2004
After a full month at home, Caela again went
into respiratory distress, this time at home, and went to the ER.
She was admitted, and shortly thereafter, her CO2
once again started to climb. Caela's pulmonologist suggested an
alternative to intubation - the negative pressure ventilator. This
is a machine which many know as "the iron lung." It
works the way that we breathe normally, by providing negative pressure
around Caela's body which assisted her in the mechanics of inflating and
deflating her lungs. Within hours of going to the PICU and being
placed in the negative pressure vent, Caela's CO2 levels dropped and she
began to improve.
That weekend, we attended our first Rett
Conference, put on by the International Rett Syndrome Association in
Baltimore. It was an amazing experience. We were able to
hear the top scientists in the field, including Dr. Schanen, report the
last research findings, and Kathy Hunter, the mother of a girl with Rett
and founder of IRSA, tell us the history of the movement to name,
diagnose, and now cure Rett. We met other parents and lots of
other girls with Rett and for the first time, got to interact with the
community we had been searching for all this time. We also met the
mother and grandmother of Ari, the first survived boy recognized as
having RS. Ari and his family were the key to finding the gene,
MecP2 that carries the Rett mutAri passed away in March, 1998, but his
family conti
Back at AI, Caela was being cared for by her
Aunt Shelly, Tatum's sister and aunt extraordinaire.
Caela was discharged from the PICU, and has been doing well on the NPV.
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