Daphne's Story

We had some early issues with her.  First, she wasn't gaining enough weight by breast feeding, so we switched her to formula.   She also experienced terrible colic in the evenings and would cry for hours on end.   Nothing that we could do seemed to soothe her, and so for her first couple of months we made regular visits to her pediatrician for weight checks etc.  We made numerous experimental changes to her formula, including switching her to soy and Nutramigen (which Daphne hated!), but nothing seemed to make a difference.

When Daphne was nine weeks old, during one of her weight check visits to the pediatrician, the doctor noticed a heart murmur.  Daphne was sent to a cardiologist at AI DuPont Hospital for Children in Delaware, and underwent a chest x-ray, EKG and an ECHO.   We then learned that Daphne had a congenital heart defect called Coarctation of the Aorta.   That meant the aortic arch in Daphne's heart was narrowed.   The cardiologist told us that the defect should not cause Daphne any issues now, but that down the road - probably when Daphne was a toddler - she would need surgery to correct the defect.

We also had Daphne tested for gastroesophageal reflux, and discovered that Daphne was having reflux, and that this might explain her colicky symptoms.  We started her on Zantac  and changed her formula to Enfamil with added rice, which was a huge improvement over the Nutramigen, and Daphne drank it eagerly.

At around three months old, about ten days after Daphne's first round of vaccines, Daphne started having bizarre eye movements.  Her eyes would flicker back and forth for a second, then stop, then flicker again.   This pattern would go on for a minute or two.  We videotaped these movements, and brought Daphne in to her pediatrician, who also didn't know what to make of them.

A day later, the movements became more pronounced, more frequent, and were accompanied by a brief extension of the arms - like a startle.   We brought Daphne to the Emergency Room, where she had an EEG.   The neurologist told us that while Daphne's EEG was abnormal, there was no change in the EEG pattern when Daphne was having her episodes, therefore they couldn't be seizures.   He thought she either had some pre-migrain activity, or that the movements were related to reflux.

The neurologist was ready to send us home, telling us to "just ignore" the disconcerting movements, but our pediatrician - knowing how upset we were - insisted that the hospital admit Daphne.

Daphne spent a couple of days under observation - which really meant that we sat in the hospital room and "observed" Daphne have these fits over and over - and we requested a second opinion from a Neurology firm in Wilmington (Neurology Associates).   The second neurologist saw Daphne on her last day in the hospital, and agreed that Daphne's movements were suspicious and told us to contact her when out of the hospital.   We called her after Daphne was discharged, and she placed Daphne on Phenobarbital, then later gave us a script for an MRI.

We were forced to wait another month before the MRI date, and we still had no idea what was going on.  Daphne was having about 15 clusters of 2 to 20 seizures every day.   She had stopped making eye contact with us, interacting with us and cooing. Although she was still strong and kicking her legs, she often gazed off into nowhere, and her eyes looked glassy.

Bewildered, I searched on the internet for some explanation of what was happening to Daphne.   I came across Infantile Spasms, and thought it sounded similar.   The more I read about this seizure disorder, which causes regression in development and is associated with mental retardation, the more terrified I became.  I found a board on epilepsy, and posted Daphne's story.   A father sent me a video clip of his son having an infantile spasm seizure, and I instantly felt that Daphne had Infantile Spasms.

It was, at this point, a weekend, but my husband called Daphne's neurology group, and the on-call doctor agreed with my assessment and told us to take her to the ER promptly.

Once at the hospital, the neurologist observed Daphne having her seizures, and was convinced that it was Infantile Spasms.  He talked to us about ACTH - a powerful corticosteroid that has been successful in treating Infantile Spasms - and Daphne was started at 40 units a day.   Daphne had a second EEG, and even though it had been only two weeks after her initial EEG, her brainwaves had become much more chaotic, and the report showed that 30-60% of the time was spent in sub-clinical seizure activity.  Daphne did not have the typical Hypsarrhythmia EEG pattern of Infantile Spasms, but she had sufficient other symptoms to make a diagnosis.

After several days in the hospital, the seizures didn't diminish, and Daphne was started on 80 units of ACTH.   Her blood pressure doubled, but a team of cardiologists felt Daphne could handle high blood pressure for a short duration (6 to 8 weeks).  Daphne's seizures lessened, but they did not stop.   We took her home, and kept a record of everything in a chart we made on our computer.   By the third day home, Daphne did not have a single seizure; however her blood pressure had skyrocketed to the 160s.

Around this time, I came across an online board for parents of children with Infantile Spasms on Yahoo! Groups (Yahoo! Groups : infantilespasms), which was a terrific resource. I learned that there were many different treatments for Infantile Spasms, and that there seemed to be no medicine or treatment that was widely effective.  In fact, many parents had gone through numerous medicines without attaining any control, while some achieved instant control with the first medicine tried.  Moreover, the causes of Infantile Spasms ranged from severe brain injury, to metabolic imbalances, to simply "we don't know".

It seemed that Daphne was having her own difficult battle with Infantile Spasms. Her MRI showed nothing unusual, other than "slightly prominent extra-axial fluid spaces", which - we were told - was not a significant finding.

During her round of ACTH, Daphne had extremely high blood pressure (in the 180s/120s) and we spent most of the time in and out of the hospital, trying various blood pressure medicines that would invariably fail once we got Daphne home.    At one point, Daphne's potassium level fell so low that my husband awoke one morning to find a room-full of doctors surrounding Daphne -- we later learned they were expecting her heart to stop.   Thank God, it didn't; although, we had to start giving Daphne a nasty-tasting potassium supplement.  We had also, early-on, switched Daphne back to Nutramigen, which was easer to digest.  Daphne's appetite while on the steroid had  increased so much that she ate the icky-tasting stuff quite greedily and had gained considerable weight.

However, as we were weaning ACTH,  Daphne ate less and less, and then began vomiting everything that she either did eat, or that we forced down her throat (she was on a total of 14 medicines a day).  Daphne's seizures had also returned.

After another hospitalization, Daphne ended up getting an ng-tube to supplement feedings, and was placed on a special formula, as testing revealed she was allergic to milk protein.  Testing during this hospitalization also revealed that Daphne had acquired gall stones, kidney stones and osteopenia as a result of her ACTH "treatment".   A follow-up CT Scan showed that Daphne's brain had atrophied, and we learned that this could be a side affect of ACTH (we later learned, however, that the atrophy was not a side affect of ACTH in Daphne's case, but rather resulted from the progression of a disease that we now believe caused Daphne's seizures in the first place).

Two days after discharge from this two-week long hospitalization, Daphne landed herself back in the hospital because she'd managed to contract Rhotavirus (a nasty stomach bug).

Daphne now was six months old, but behaved more like a two month old.  We enrolled her in Early Intervention (a state-sponsored program that provides home therapy to infants and children younger than three who are at risk for developmental delay) to help with development, and tried various seizure medicines to control the Infantile Spasms.   In addition to ACTH and Phenobarbital, we eventually tried Gabatril, Depakote, Klonopin and the Ketogenic diet.  Daphne had also stopped eating entirely, and we had a g-tube placed.

Finally, when Daphne was about nine months old, we tried Vigabatrin: a seizure medicine that is not FDA approved.  The day after the first dose, Daphne did not have a single seizure.   We'd finally found the right medicine!   After that point, Daphne started making slow but steady progress.   In a few weeks Daphne was smiling and cooing again.   By the time she was a year old, Daphne was rolling, and at fourteen months old, Daphne could sit with support and was starting to babble.

In December, Daphne had a visit to her cardiologist at Children's Hospital of Philadelphia.   We learned that Daphne's coarctation of the aorta had significantly worsened, and that it was time for Daphne to have surgery.   It was a shock to hear that it needed to be done so soon, and I was worried about the impact it would have on her development -- we'd finally had her making progress again, and now she was up against a new health challenge.

Daphne had her surgery on Wednesday, January 12, 2005 at CHOP.   She did well during surgery; however we learned that her coarctation was very complex and required a graft to correct.   Not only was the aorta narrow-appearing from the outside, but it had also thickened inside, and this area of thickening/narrowing stretched all the way from the aortic arch to the left subclavian artery (the artery that brings blood to the left arm).

Daphne bounced back from her surgery without incident.  She was discharged only four days after her surgery, and was doing well at home.   Then, exactly two weeks after her surgery, On Wednesday, January 26, Daphne suffered a stroke on the right side of her brain.  We noticed that she wasn't moving her left arm or leg, and we rushed her to the CHOP emergency room.   An MRI the following day not only confirmed that Daphne had a stroke, but it also revealed that Daphne had a condition that caused her to have a stroke, called Moyamoya disease.

Moyamoya disease is a progressive disorder that involves narrowing and blockage of the carotid arteries that deliver blood to the brain.   Because of this decrease in blood flow, numerous tiny vessels form, as the body's attempt at delivering needed blood to the brain.  The disease causes successive ischemic or hemorrhagic events (strokes) resulting in continual mental decline and, eventually, death.

We learned, though, that there is a surgery that can help patients with Moyamoya develop a new supply of blood to the brain.  It involves taking a superficial temporal artery from the scalp, and effectively planting it onto the brain.  My parents and I started researching this disease online, and came across a wonderful support group, moyamoya.com.  We learned that there are only a few surgeons in the US who are experienced with Moyamoya surgery, and I contacted two of them - Dr. Scott at Boston Children's and Dr. Steinberg at Stanford  University Medical Center in California - by email.  Both got back to me within 24 hours, even though I emailed them on a Friday night, and both wanted to look at Daphne's films.

Then, on Sunday Morning, four days after Daphne's stroke, I noticed that Daphne wouldn't grasp my finger with her right hand.  She was also extremely irritable.   I called in Daphne's nurse, but we didn't get any real attention until finally Daphne started having a partial seizure that affected the right side of her body - it was completely unlike any seizure she'd had before, and I just held Daphne and cried, knowing that her poor brain had already suffered more damage.  

Daphne was pumped full of valium and phenobarbital, but her hand, foot and face continued to twitch intermittently for hours.   Doctors confirmed what I already knew - Daphne had a second stroke.  Daphne's condition rapidly deteriorated, until she could no longer move her arms, turn her head, suck her pacifier, or even open her eyes beyond tiny slits.   Daphne's breathing was very labored, although her pulse oximeter still read in the 90s.

We were called in by the attending doctor to make a decision - since they now believed Daphne's condition was terminal - on whether or not we wanted her resuscitated should she have a life-threatening event.   We were also told that surgery was not an option for Daphne, anymore, since her health was so fragile, and that she would continue to suffer successive strokes until she eventually died:  probably within weeks.

It was completely devastating, Daphne had made such a strong fight all her life and this seemed so unfair to her.  We tried to come to terms with the prognosis and decided that if Daphne didn't have much time left, we wanted her to spend whatever time she had in the comfort of our home. Children's Hospital of Philadelphia was wonderful about accommodating this wish, and made quick arrangements for hospice care nursing.  On Tuesday we took Daphne home in an ambulance (her airway was too floppy to tolerate a semi-reclined sitting position in her car seat).  Once we were home, I emailed Dr. Scott and Dr. Steinberg, asking them whether they were still interested in looking at Daphne's imaging.

At home, you couldn't even hear Daphne cry, and we would put a baby monitor next to her, turned up, whenever she slept, so that we could leave the room or wake up if she were in distress.   Ray bought an extra crib at Babies R' Us for downstairs, so Daphne could sleep near us if we were in the kitchen or living room.  Through it all, though, we could see Daphne still had her personality... she might have been extremely weak and partially paralyzed, but she was still "Daphne".

Meanwhile, both Dr. Steinberg and Dr. Scott replied to me, and wanted to see Daphne's films.  I quickly contacted medical imaging at CHOP, and had Daphne's films sent to both doctors.  It was nice to feel like I was doing everything I could for Daphne, and leaving no stone unturned.  I started thinking, based on some emails I exchanged with Dr. Steinberg's nurse practitioner, Teresa Bell-Stephens, that there may be some hope for Daphne... and that hope allowed me to stop grieving for Daphne, and to start thinking about her future.  If surgery was an option, there was no question that we'd want to give it a try.

Little by little, Daphne started making a recovery at home.   A week after her stroke, she was able to suck a pacifier again (credit to Jenny's mom for her persistence!).  She was able to turn her head again, she'd activate toys with her feet, and would rub her eyes with her left hand.  She was irritable, though, and demanded hours upon hours of stroller rides around the house.  We called her the "little tyrant", but were happy to do anything that pleased her.

On Monday, less than a week after we'd gotten home,  Teresa called us to tell us that Dr. Steinberg had reviewed Daphne's studies, and believed that she'd make a good surgery candidate.   He felt that Daphne had bilateral Moyamoya  and would require two surgeries, about a week apart.   Because of her age, he would do indirect bypass surgeries.   He also felt that the damage from the stroke seen on Daphne's MRI was not so severe that Daphne could not recover.  Our elation and gratitude was, and still is, beyond expression.

Most of the arrangements for Daphne's surgery were made that week.  She was scheduled to have one side done on March 8, and the other done on March 15.  They wanted us to come out a week early for testing: MRI, SPECT, and Angiogram, as well as a clinic visit to one of their neurologists.

Testing revealed that Daphne had severe Moyamoya disease, especially on the left side (incidentally, Daphne's EEG had always shown left-sided abnormality).  The SPECT showed that the entire left side of Daphne's brain was oxygen deprived, and was also 20% smaller than the right side of her brain.  

As a result of the findings from Daphne's studies, Dr. Steinberg opted to perform surgery on the left side first, then the right side a week later.   Fortunately, Daphne had good donor vessels on both sides, and we were told that the surgeries should provide good revascularization (See Daphne Moyamoya Surgery Journal for more details about Daphne's surgery).

Daphne has recovered well from both surgeries and is now back home.  She is making progress every day.   Of course some days are better than others, and Daphne has a lot of catching up to do, but we feel so blessed to have her in our lives.  She is truly an amazing person, and has just been so strong through everything.  She is an inspiration!