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

 

3rd Year of Life

 

 

 

 

 

 

 

 

1st YEAR OF LIFE 

April, 2001

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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June, 2001

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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September, 2001

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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November, 2001

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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December, 2001

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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Winter, 2002

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

June, 2002

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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July/August, 2002

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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Fall, 2002

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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January, 2003

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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March, 2003

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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Spring, 2003

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 & AudiologistsClick 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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August, 2003

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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September, 2003

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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November, 2003

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. 

January, 2004

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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