Jayda's Story

Jayda was born on Friday the 17th of April 2009, at 11.44am. She was 39 wks and 2 days term. Jayda weighed 7lb 3oz and was 52cms in length. Throughout the pregnancy there were no concerns except for low amniotic fluid,which I also had with my first born. It was a natural birth with no complications.

The midwife had noticed a bruise like mark on her left cheek,she had the pediatrician come and look. He said to leave it for a few days and if it hadn't gone then it may be a birthmark. I went home from hospital on the same day and was followed up by midwifery home visits for the following few days. One of the midwives mentioned the mark when Jayda was 4 days old telling us that she thought it was a port wine stain,it obviously hadn't gone away so she contacted the hospital and organised an appointment with the pediatrician.

When Jayda was 7 days old we saw the pediatrician who examined her,telling us that he wasn't certain but he thought it was a port wine stain. Over that week she had also had slight redness from the top of the left hand side of her head running down to the top lip and over her left eye and also over her right eye and forehead, 3 separate and distinctive areas come up. He decided to refer us to a pediatric dermatologist.

Weeks had gone by and we hadn't heard from the dermatologist and Jayda's slight redness had grown and become almost blister like. Jayda's dad didn't want to sit around waiting for a Dr and because we had started researching port wine stains and the connection with Sturge-Webber syndrome we were worried. We took Jayda to the ER at PMH children's hospital and on arrival she was examined and brought straight through to have a Dr assess her. The doctor was informed that there was a possibility of the birthmark being a port wine stain but he soon told us he thought it was a stork bite and that they usually get worse before they get better. At this stage we didn't know who to believe and it was as though nobody could be really sure. He made arrangements for a brain ultrasound for the following day.

Jayda had the ultrasound done and the same Dr told us that the results were normal,and told us to wait for the dermatologist to contact us with an appointment.Jayda was 1 mth old by the time we had an appointment with the dermatologist. At this appointment she told us that she agreed it was a port wine stain and that she needed Jayda to have a MRI on her head to rule out Sturge-Webber syndrome. She was going to start laser treatment then and there but then decided to let us go home and come back in a week when everything had all sunk in.

On this next appointment the look of the birthmark had changed dramatically and the Dr changed her diagnosis with help of a second opinion from a colleague. She informed us that the growth of it had indicated an infantile hemangioma. We had no idea what this was we were just relieved it wasn't a port wine stain or sturge-webber syndrome. Then we were told about the possibility of PHACE syndrome.After being informed that she would need to see an opthamologist,cardiologist and neurologist,we began to worry again.

The Dr started Jayda on a daily dose of prednisolone. This is an oral steroid that would help to keep the hemangioma from growing anymore. Jayda had her MRI on her head later that week. The results showed no Posterior fossa abnormalities or brain development problems,we were only told of 2 arterial anomalies. The dermatologist didn't know much about it just that they were tortuous. Jayda also has hemangiomatous tissue within the anterior left orbital cavity surrounding the lateral,superior and medial margins of the left globe.

We then saw the opthamologist when Jayda was 7 weeks old,he didn't see anything wrong with her eyes, he just wants to review her at 6 mths of age.

We then saw the cardiologist at about 2mths old. She had an ECG and heart ultrasound. They noticed a small hole in her heart but he was sure it was normal and it would close on it's own. He also explained that there was a finding of an aberrant right subclavian artery but it was a normal variant, it was only that we were looking that we knew about it,all was fine. He gave the dermatologist the all clear to start Jayda on another drug called Propranolol.The dermatologist said that this would mean Jayda wouldn't have to be on the steroid for long and that the Propranolol was going to do the same job but with less side effects. She also explained that it was an old drug usually used to treat children with heart problems but was new for treating birthmarks.

We were now being seen weekly by the dermatologist to keep up with the progress of the drugs. The steroid had worked significantly in reducing the redness and thickness of the hemangioma as well as the Propranolol. By 4mths of age Jayda was weaned off the Prednisolone but she is still on the Propranolol.

We finally had an appointment with the neurologist,who hadn't ever had a case of PHACE syndrome,so she invited a neurosurgeon along. They told us that there was a chance that she would suffer a stroke usually between 3mths-18mths of age mostly occurring at 8mths. They weren't completely sure.They said that Jayda had an abnormal circle of Willis with markedly tortuous left cervical internal carotid artery. There was also a nest of tortuous branches arising from the left side of the distal basilar artery,one of which likely represents a tortuous left superior cerebellar artery. The left posterior cerebral artery arises directly from a prominent posterior loop of the internal carotid artery. The right supraclinoid internal carotid artery also appears to bifurcate quite high. They want to see Jayda every 3mths for clinical exams and then redo a MRI at the age of 2yrs.

Jayda has had her dermatology visits reduced to monthly. Jayda is now 5 mths old and the hemangioma hasn't shown any sign of growth. The continual doses of Propranolol are keeping it at bay.

Jayda will be having a MRA scan done anytime now and this will hopefully be able to show us if there has been any change to the arteries.