Sturge-Weber Syndrome

Dr. Tan was the staff neonatologist on Thursday; he received the results of the CAT and MRI scans and had consulted with the hospital's radiologists before sitting Michelle and I down in a private room. "Ginger" Fiock - Declan's (and our) nurse - asked if she could be with us during this time to serve as our second set of ears and to help us with anything. Dr. Tan reviewed the actual MRI films with us and gently informed us that little Declan had suffered a stroke at or around the time of his birth, resulting in small amounts of blood within his brain. Worse, the MRI scans also displayed clear evidence of Sturge-Weber Syndrome (SWS) - a rare, congenital condition that affects the skin and in more serious cases (like Declan’s’) - the brain.

As described in medical manuals: Sturge-Weber Syndrome (or disease) is a rare, congenital, and progressive condition that affects the skin and in more serious cases - the brain.

Characteristically, a large pink to purple hemangioma (a birthmark caused by abnormal distribution of blood vessels) extends over one side of the face, including the eye. A similar malformation of blood vessels in the brain may cause some degree of weakness on the opposite side of the body, glaucoma, and epilepsy. In some cases, strokes may occur. Developmental delay of motor and cognitive skills may also occur to varying degrees.

This syndrome is a congenital vascular malformation affecting the head, face, and brain. The primary process appears to be faulty development of the venous drainage for the cerebral capillary bed. A similar process affects the skin, eye, and the soft-tissues of the head. Development of the brain usually proceeds to a normal size, but after birth, there is progressive atrophy of the affected hemisphere(s). The disease is usually unilateral, but bilateral cases can occur. Typically the patient presents at birth with a "Port Wine Nevus" - a reddish-brown or pink discoloration of the face, often following the distribution of the trigeminal nerve.

Intracranially, ipsilateral to the facial nevus, there is abnormal circulation that leads to 1) cerebral dysfunction; 2) electrical instability (seizures); and 3) cerebral cortical atrophy. Seizures usually present within the first two years of life. Typically the occipital lobes are affected first, and most severely, but the disease may also involve the parietal and temporal lobes, and (rarely) the frontal lobe.

Patients with SWS typically suffer from an abnormal number and size of blood vessels throughout the brain. While some children with this syndrome can go on to lead normal lives, Declan had a very large number of abnormally large veins pervasive throughout his right cortex. Dr Tan informed us that we could expect potential learning and motor impairments, lifelong seizures, ophthalmic problems and the chance of mild mental retardation. If there ever was a difficult time to find and accept God's will - this certainly was it for me.

While very happy that the doctors had not seen any evidence of arterio-venous malformations (AVMs) that could have threatened Declan's life, the diagnosis certainly was much worse that either Michelle or I was expecting. After holding what we believed to be a perfectly normal baby in our arms for two days, being told that the same little baby would likely go through life with several significant problems is not something any parent welcomes. It was in fact extremely difficult to find any positive sense at this time, but that is exactly what Michelle and I tried to do after talking with Dr Tan. We did spend a few minutes in each other’s arms consoling each other, but we did realize that we would be parents to a very special son. Thanking God for sparing our son's life and for allowing us the opportunity to have such a special little boy, we knew that regardless of what happened as Declan grew, we were prepared to give him all the love and care that a child could receive.

Prayers for Declan Mark…

Cathy Kozachenko – Declan’s Godmother - visited him very early Thursday morning after waiting patiently for permission to visit him in the NICU. She lovingly sat with him in the early hours of the morning and anointed Declan with the oil from the vigil lamp of St John Maximovich before she had to leave for work. Declan’s Godfather, Tony Shah, was accompanied by his wife Mary and Declan’s two Godsisters Anna and Christina for both a visit and some special relief time for me and Michelle. The support that Michelle and I received during this week was nothing short of amazing. The close the day out, Fr John – our parish priest – also paid Declan a visit late Thursday evening and held a special prayer service for Declan in the presence of family and Ginger Fiock, one of the many wonderful NICU nurses that cared for Declan during our stay. Fr. John anointed Declan with myrrh from the miracle-working icon of St Nicholas the Wonderworker before heading home.

Needless to say, many, many prayers from friends, family and strangers were offered for our little son that day, along with anointing with holy oil from St. John Maximovich and myrrh from the icon of St Nicholas. The support Michelle and I received from both family and friends was nothing short of amazing.

More Testing

Still wanting to ensure that a stroke or clot did not cause these neurological problems formed elsewhere in Declan's body, the doctors ordered a liver/spleen ultrasound. Declan handled all these with amazing strength for a three day old. Dad was there for all these tests while Mom was resting (after delivering and not getting any sleep from Monday through Wednesday, mom was MORE than exhausted!) But dad just couldn't leave little Declan's side -- from his first bath to his circumcision to all.

Wanting to further visualize the extent of SWS in little Declan, his team of doctors ordered five additional MRI scans - essentially a complete neurological study that encompassed five separate foci. The arteriogram and veinograms focused on the vasculature of the brain, while the set of gadolinium contrast studies visualized the blood flow (both direction and volume) throughout these vessels in the brain. These films would be taken Friday morning and would hopefully be reviewed and available later that day.

Dr. Koukkari strongly suggested that we consult with Dr. Jim Barkovich, a pediatric neuroradiologist at UCSF. My mother was a complete angel during this stressful time and volunteered to drive up to San Francisco with Ingrid Woodley to hand deliver the duplicate set of films to the right people. Not as easy as it might sound from the outset either, as it was obviously very important that we at least attempt to get Dr. Barkovich’s immediate attention to see if he could review the films before much more time elapsed. She not only found his office in the maze of buildings, but also walked it through two different offices to ensure that Dr. Barkovich would have them before the weekend. We could at least feel like we were making progress on something that was within our control.

Now the waiting…