Tuesday, April 10, 2012


July 6th 2011

Ok ok, I'm the first to admit it, I've been neglectful in keeping my blog up to date. Part of the reason is my ever extending long finger but the other part of the reason has been my belief that we were home and dry and that Louise's story had come to a natural end and we were going to continue into the future with our 'normal' baby.
 Somewhere in the back of my mind I had this idea of somehow publishing this story to date and the last sentence of my previous post seemed to me to be a fitting last sentence of my 'epic'. Then I discovered that my blog isn't 'wordy' enough to warrant any interest so I thought maybe I'd get it published and bound as a family story to pass on. There are some lovely websites that do a lovely job on publishing blogs in small quantities. 
Also, Louise has been developing quite normally as a quite bright (in my opinion) child and meeting all her milestones with time to spare. Her cardiologist, as I've been posting, is thrilled with her ( I think she's his favourite patient :-D ) and actually wrote to John as her GP in the last few weeks that he thinks Louise MAY need no further intervention and her neurologist has effectively discharged her. So that's my convoluted range of excuses...you know the perennial advice mothers have always passed on that if someone presents more than ONE excuse they're generally lying...

Yesterday, I realised that life doesn't always unfold the way it seems to be heading. Home and Dry is a non existent state until we find ourselves actually in Heaven. Recently when people inquired about Louise I've been repeating my line that Louise has amazed us all, how we were expecting to have a sickly child with a short lifespan who would have trouble reaching her milestones, if at all, and instead we had this mischievous rascal who we have to constantly watch to see what trouble she's getting into next...AMAZING!!!

Well I have mentioned from time to time that Louise has a vascular birthmark on her forehead, over her right eye and down the side of her face till it ends in an arrow shape about level with her ear, with a smaller one on the other side of her forehead. When she was born it was pink with a pattern of little veins in what looks like an aerial photograph of roads from above. The pink has faded leaving the mesh of veins which become more or less obvious according to Louise's mood, temperature and so on. When she cries or is hot it glows white with the veins becoming very visible and at other times the whole mark is much less noticeable. I've also realised how very mannerly Irish people are in that nobody Irish has EVER commented on it. The only people (apart from doctors) who have ever pointed it out to me have not been Irish.

Yesterday we had our appointment with the birthmark clinic in the Children's Hospital with the impression that we were just going to get a base line on how we'd manage the mark. Apparently there are optimum times for removing different marks, some are better removed in infancy and others better left till later. Honestly, that's all we were expecting, not the revelation that this innocuous mark is actually the final piece in a puzzle that up to this we were unaware even existed.

 Peter, Louise and I headed to our appointment thinking we'd be in and out and after waiting in the lovely modern, bright (if hot) waiting room we were called in by the dermatology registrar. After introducing himself he sat down and remained more or less silent for the next half hour as he read Louise's file from cover to cover, asking me a question from time to time. When he finished he looked up and said he thought he'd call in the entire team as they were all there at the time. He left the room and I waited 15 or 20 minutes until suddenly the room was suddenly filled with doctors!! (I have to interject here that a nicer bunch of people you couldn't ask for) There was a buzz of anticipation in the room as they discussed the case and asked me some questions "...aah..the plot thickens.." is one of the remarks I clearly remember. Then the bombshell...."OK, she has PHACE Syndrome"

A lot of explanations later and it seems this is the position we're in: Louise is a most unusual case in that we have come to it from a back-to-front angle. Generally the baby presents with the facial hemangioma and the dermatologist or plastics consultant requests heart, brain, eye and other tests to rule out anomalies. In our case all the anomalies have been discovered and handled separately before this definitive diagnosis which draws them all together. So what is it??

Here we go...

PHACE defined:
Posterior fossa- These are brain malformations that are usually present at birth.(Dandy-Walker) These brain malformations do not form after the infant is born.

Hemangioma- The hemangioma usually covers a large area on the skin of the head or neck (greater than 5 cm). The term "segmental" is sometimes used to describe these hemangiomas.

Arterial lesions- The abnormalities of the blood vessels in the neck or head.

Cardiac abnormalities/aortic coarctation- These are abnormalities of the heart or the blood vessels that are attached to the heart.

Eye abnormalities.

More serious complications may develop depending on the other anomalies that are found in the infant.
Infants who have PHACE syndrome may be at risk for other neurological problems even after the hemangioma has gotten better. These problems may include migraine headaches, seizures, developmental delays, speech delays and very rarely ischemic strokes. These symptoms may be the result of structural defects or cerebrovascular events from the arterial defects.

Infants with cardiovascular defects need close monitoring by a pediatric cardiologist for ongoing care and treatment. The most common cardiac defects associated with PHACE syndrome are coarctation of the aorta or other aortic arch abnormalities. If severe, the coarctation may require surgery.
Infants need to have frequent visits with an ophthalmologist if there are signs of eye involvement. They may need early treatment to prevent loss of sight.

Well as we know, Louise ticks all the boxes (apart from eye problems so far..she is eagle eyed). The doctors are 100% certain of their diagnosis and told me there are about 8 children in Ireland with this rare condition so she will more than likely be referred to a research programme as so far there is no known cause of PHACE.

I will mention here that I had actually heard of this condition before and had read about it thanks to Terri in The Dandy-Walker Alliance who had made the connection months ago and had sent me information on current research concerning PHACE and Dandy-Walker. Now that is what I call on the ball and I am truly grateful to Terri as I would have gotten a much greater shock yesterday if I had been more ignorant of the condition.

So what are the implications for Louise?

 Well really, because the problems accompanying PHACE have been mainly dealt with already, most of the tests they would now be requesting are unnecessary with the exception of a brain Magnetic Resonance Angiogram (MRA) in which they put dye into the vascular system and through a process similar to MRI under anesthesia look for any dilation of the blood vessels in the brain. These would not be detected in the MRIs which Louise has already had. What does dilation of the blood vessels mean?

 I don't even like to write this word...aneurysms

It strikes the same cold fear for any parent as the word meningitis. So I am praying to God that this test comes out clear. I don't know when the procedure will be done-I opened my big mouth and said she was going to have a heart MRI at 14 kilos and they said they'd do it at the same time. I am so stupid!! Louise is 9 kilos at the moment...she is a neat baby with not much baby fat so God knows when she'll reach that weight!! We have an appointment with the cardiologist in September so I think we'll push to have it done earlier than that. The doctors are writing to him anyway as well as the neurologist and John.

As a side issue, over the last month Louise has developed a problem with her thumb which we thought at first was a simple dislocation but which John quickly diagnosed as Trigger Thumb in which her thumb is locked in a bent position and cannot even be forced into the flexed position.

We had been waiting for an appointment to have it seen to but I thought I'd just mention it as I am aware that hand problems can go with Dandy-Walker. One of the consultants in the room was a plastics guy so he said he can deal with that...I was delighted as it saved me another appointment and I had also had the niggling concern that this was going on a long time not to have been seen to and was the delay causing harm? When all the other discussion was done and dusted he explained in detail what was causing the problem and that it wouldn't correct itself so Louise is now scheduled for hand surgery in September which he will do. It'll be a day case but under general anesthetic. 

So here we are, exactly a year later, Louise will be heading into surgery again. Of course I am fully aware that this is a minor procedure compared to her other operations but I'm still her Mammy and looking at it on YouTube it looks very painful. (I know, bad move Girl!!) It seems she'll be in a cast for a few weeks afterwards.

So I'm spinning again.

In the meantime, Louise is continuing to entertain us all...


  1. JK Says:
    ah what a cutey
    August 24th, 2011

  2. I have lived with PHACES Syndrome all my life, but was only diagnosed in the last couple of years. so far, apart from limited vision, and being unable to lift heavy things because of a brain aneurysm, this hardly effects my life at all. I had a lot of difficulty coming to terms with it, so its best that your daughter was diagnosed at such an early age. I had very large and noticeable birthmarks on my face, which have now completely disappeared, with only faint scarring. I know this feels overwhelming and absolutely terrifying, but your daughter is gorgeous and whatever she is diagnosed with, this doesnt mean that she will lead anything less than a full, happy life. If you feel like talking to someboyd living with PHACES Syndrome would helop you, please dont hesitate to reply! good luck!

    1. My newly born have been diagnosed with PHACE syndrome, & I have been doing alot of research lately about the matter. My baby boy is now only 19 days old, he has a very large hemangioma on his back extendimg from his neck to his lower back, a heart problem that needs surgery & other anomalies, but nothing concerning the eyes so far. His cardiologist appointed him for surgery on his 3rd month. But i am very concerned about the hemangioma, as i read alot of articles mentioning that hemangiomas can grow larger outside the skin and might bleed causing alot of pain to babies, I would like to know more from you about your experience with PHASES Syndrome