At our 20 week ultrasound, we had the infamous ultrasound where we would find out if we were having a boy or a girl. We were told we were expecting a baby boy! We were so excited! But a few hours after leaving the doctor's office, I received a phone call telling me something didn't look right with the baby's head and they suggested we see a high risk doctor. Another ultrasound was done and we were told our baby had a rare neural tube defect called an encephalocele. We were told this was a condition where the bones of the skull do not close completely, creating a gap through which cerebral spinal fluid and/or brain tissue can protrude into a sac-like formation. We were told a lot of babies don't make it to term and a large percentage of the ones that do are stillborn. We were also told that it looked like his heart MIGHT be hooked up backwards. They said when they see encephaloceles they're not usually isolated, a lot of times they see other conditions with it, which lessens the chances of a positive outcome. We were told if he survived, his quality of life was unknown at this point but it was quite possible that he could be a vegetable. We were offered termination. We were devastated, how could this happen to us?! We did EVERYTHING possible for a healthy pregnancy and baby. We saw a cardiologist who did a fetal echo and we were told his heart was hooked up normally! We took this as a positive sign. We chose to continue the pregnancy. We had a fetal MRI at 32 weeks, where it was suspected that Dylan also had Dandy-Walker Syndrome, a malformation that involves a part of the brain called the cerebellum (an area at the back of the brain that controls movement, behavior and awareness). The last 4 months were very stressful; Dylan was monitored closely, his encephalocele did get a little bigger as he grew but we were told that it appeared to contain only fluid (and not brain tissue also); we were told this usually has a better prognosis but doctors were still reserved.
Finally the big day arrived, Dylan was born by a planned c-section on March 16th, 2010. We only got a glimpse of him before he was whisked away to NICU. We were just happy that he was born alive and was able to breathe on his own. The next 15 days were the longest days of our lives; he spent the days in NICU having every possible test and scan run on him. The suspected diagnosis of Dandy-Walker Syndrome was confirmed at birth with an MRI. He was also diagnosed with mild hydrocephalus and had surgery, placing a VP shunt when he was only 8 days old. Hydrocephalus is a chronic, neurological condition characterized by an abnormal accumulation of cerebrospinal fluid (CSF) in the brain, resulting in increased pressure on the brain. He had some feeding issues while in NICU and he was on a feeding tube for awhile. But FINALLY the day came that we got to take him home, no feeding tubes, no extra equipment! Ultimately we decided it was best that I leave my job where I had been employed for the last 11 years, to stay home with Dylan full time. It was definitely an adjustment, but it is the best decision I ever made.
Despite all of the tests and scans Dylan had while in the NICU and over the first two years of life, another rare condition he was born with was missed. Klippel-Feil Syndrome, a congenital disorder of abnormal fusion of cervical vertebrae (neck area). This was new territory for us; all of Dylan's three main diagnoses at birth (encephalocele, Dandy-Walker Syndrome and hydrocephalus) are brain related and Klippel-Feil Syndrome is spine related. People with KFS can have varying degrees of it; some more extensive than others. According to his orthopedic surgeon, his KFS is more extensive than most. The first seven vertebrae in the spine are in the cervical (neck) area and are listed as C1-C7; Dylan's are fused from C2 through C7. How was this missed? We think mostly because his encephalocele made it difficult to get good images of his cervical vertebrae (neck area). There had always been a debate among his doctors and therapists regarding Dylan's neck tilting to the left since birth and if he had torticollis or not. Physical therapists continued doing neck stretches and exercises, as we did per their instruction, until I started hearing "popping" and "cracking" sounds when I was doing them. He didn't act as if it bothered or hurt him but it just didn't seem right to me. At our request, a full MRI of the spine was ordered (it had been over a year and a half since the last one was done). Dylan was 26 months old when we received the additional diagnosis of Klippel-Feil Syndrome.
Finally the big day arrived, Dylan was born by a planned c-section on March 16th, 2010. We only got a glimpse of him before he was whisked away to NICU. We were just happy that he was born alive and was able to breathe on his own. The next 15 days were the longest days of our lives; he spent the days in NICU having every possible test and scan run on him. The suspected diagnosis of Dandy-Walker Syndrome was confirmed at birth with an MRI. He was also diagnosed with mild hydrocephalus and had surgery, placing a VP shunt when he was only 8 days old. Hydrocephalus is a chronic, neurological condition characterized by an abnormal accumulation of cerebrospinal fluid (CSF) in the brain, resulting in increased pressure on the brain. He had some feeding issues while in NICU and he was on a feeding tube for awhile. But FINALLY the day came that we got to take him home, no feeding tubes, no extra equipment! Ultimately we decided it was best that I leave my job where I had been employed for the last 11 years, to stay home with Dylan full time. It was definitely an adjustment, but it is the best decision I ever made.
Despite all of the tests and scans Dylan had while in the NICU and over the first two years of life, another rare condition he was born with was missed. Klippel-Feil Syndrome, a congenital disorder of abnormal fusion of cervical vertebrae (neck area). This was new territory for us; all of Dylan's three main diagnoses at birth (encephalocele, Dandy-Walker Syndrome and hydrocephalus) are brain related and Klippel-Feil Syndrome is spine related. People with KFS can have varying degrees of it; some more extensive than others. According to his orthopedic surgeon, his KFS is more extensive than most. The first seven vertebrae in the spine are in the cervical (neck) area and are listed as C1-C7; Dylan's are fused from C2 through C7. How was this missed? We think mostly because his encephalocele made it difficult to get good images of his cervical vertebrae (neck area). There had always been a debate among his doctors and therapists regarding Dylan's neck tilting to the left since birth and if he had torticollis or not. Physical therapists continued doing neck stretches and exercises, as we did per their instruction, until I started hearing "popping" and "cracking" sounds when I was doing them. He didn't act as if it bothered or hurt him but it just didn't seem right to me. At our request, a full MRI of the spine was ordered (it had been over a year and a half since the last one was done). Dylan was 26 months old when we received the additional diagnosis of Klippel-Feil Syndrome.
Statistics on how often these rare conditions occur:
Encephalocele - 1-4 per 10,000 live births
Dandy-Walker Syndrome - 1 in 2,500 births
Hydrocephalus - 1-2 per 1,000 births
Klippel-Feil Syndrome - 1 in 40,000-42,000 births
*Note* - In addition to the four rare conditions listed above, Dylan was also born with fused ribs, deafness in the right ear and two heart conditions (a narrow aortic arch and bicuspid valve). Doctors were suspicious that he was growth hormone deficient for quite some time. It has been confirmed that he is in fact growth hormone deficient and will require growth hormone therapy in the near future. Dylan sees numerous specialists on a regular basis.
"The Dylan Jouppi Fund" was set up to alleviate the burden of ongoing medical costs. The fundraiser ends on June 1st, 2013.
Here's an updated photo from April 2013:
Erica at Treasure Coast Tackle
*Note* - In addition to the four rare conditions listed above, Dylan was also born with fused ribs, deafness in the right ear and two heart conditions (a narrow aortic arch and bicuspid valve). Doctors were suspicious that he was growth hormone deficient for quite some time. It has been confirmed that he is in fact growth hormone deficient and will require growth hormone therapy in the near future. Dylan sees numerous specialists on a regular basis.
"The Dylan Jouppi Fund" was set up to alleviate the burden of ongoing medical costs. The fundraiser ends on June 1st, 2013.
Here's an updated photo from April 2013:
Erica at Treasure Coast Tackle
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