Vein of Galen Malformation The story of “Fraser (an alias)” Meg Seow Auckland City Hospital Meg Seow with questions or comments relating to this presentation and/or Vein of Galen Malformation:

Fraser Just 2 Hours Old

The story of “Fraser (an alias)” Fraser was born on the 24 th of April, 2006 in Lower Hutt Hospital. Fraser’s parents, Belinda and Steve (an alias) described this as “the happiest moment of both of our lives.” Fraser was 3.6kg and a beautiful and health baby. He was perfect. For the first day and a half of Fraser’s life, he was very sleepy and didn’t want to be breastfed. The nurses and midwives were not concerned. They told Belinda “not to worry about this as it was common for new babies.” Belinda and Steve were not worried because they trusted nurses. On the night of the 25 th of April 2006, Belinda and Steve’s whole happy world was to come crashing down. When Belinda was trying to breastfeed Fraser, another midwife popped into the room. She thought that Fraser looked like he was breathing a little fast. She counted his respiratory rate. She then called the registrar straight away to assess Fraser.

Soon after the assessment, Fraser was taken into the special care baby unit. Some chest X-ray films were taken, and the on-call consultant pediatrician was called in to examine Fraser. The consultant pediatrician told Belinda and Steve that “Fraser is going into heart failure and needs to be transferred to the NICU at Wellington Hospital right away.” Belinda started to scream. She thought that this was the end of her little baby’s life. She describes this as: “I was very scared and distraught. The thing I wanted most in the world had been taken away from me. I felt as though I was no longer a mum. I couldn’t do anything to help my baby and I wasn’t in control of what was happening to Fraser. I was nothing.” Fraser was transferred to Wellington Hospital that night. He had an echocardiogram. It identified severe heart failure. Fraser’s diagnosis was made at 1am that night. It was Patent Ductus Arteriosis” but there was something else going on with Fraser. Further exploration was required so he was scheduled to have a MRI scan next.

Wellington NICU

In the mean while, Fraser was commenced on Diuretics and went under close observations. Later the next day, Fraser had a MRI scan. It showed the complexity of the problem. Fraser was intubated. The on-call doctor spent a lot of time on the phone and consulting with the doctors in the Starship Children’s Hospital in Auckland. Finally, Fraser’s primary diagnosis was made. It was “Vein of Galen Malformation”. This was the real cause of the heart failure. Belinda and Steve are told that “Vein of Galen Malformation” is treatable, but more than likely Fraser could die. Belinda and Steve are devastated and terrified. They are also told that Wellington Hospital don’t have the doctors or the equipment to help Fraser, so now he needs to be transferred to Auckland by the Life Flight Air Ambulance. Fraser and his family are flown to Auckland on the 28 th of April, 2006 and Fraser is admitted to Level 3, NICU at National Woman’s Hospital in Auckland.

So, what is “Vein of Galen”? This is a very rare condition affecting the blood vessels of the brain. The abnormality occurs during the embryonic (6 to 11 weeks) development and results in abnormal communications between the arteries and the veins of the developing brain. The capillaries which normally connect arteries to veins and function to slow blood flow allowing for the drop off of oxygen and nutrients to the brain are missing.

Since “vein of Galen malformations” lack capillaries, blood flow could be fast and this in turn increase the work of the heart. Blood drainage is towards a single deep draining vein, which becomes markedly enlarged. It affect all races. It affect boys and girls equally.

The cause of it is unknown It occasionally detect on antenatal ultrasound (from 25weeks gestation). It commonly diagnosed during neonatal period. Statistically, occurs one case each year in population of about three million people (1case /year/ 3millions)

Clinical signs and symptoms High output congestive heart failure Decreased resistance Tachypnoea Respiratory distress Cyanosis High blood flow in the lesion Often require ventilation support Developmental delay Hydrocephalus

Investigation (Imaging) Initial investigation = seek cause of heart failure (eg: Echocardiogram) Transfontanelle ultrasound MRI When Vein of Galen is confirmed by MRI, Angiography would be performed at the time of Embolisation

Considerations for treatment Infant often die if the high output CHF is the presenting feature. Large shunt = Rapid deterioration with progressively worsening cardiac failure Smaller shunt = Present later with cardiac failure and failure to thrive. So when should we treat the patient?

Consideration for Treatment If the child can be managed medically, it is best to wait until aged 5 or 6months old. Embolisation of a neonate is a high risk procedure. There are some limitation of the procedure (amount of contrast medium, flush solution can be given to baby). Surgical attempts at closure of the shunt have high mortality or severe morbidity. Embolisation is the only way to treat VOGM at this stage. Large shunt with many feeding vessels will need several embolisation sessions. So why Fraser was treated so soon?

Fraser’s score 1 (cardiac) + 5 (cerebral) + 2 (respiratory) + 2 (hepatic) + 1 (renal) = 11 For emergency treatment 8/ / 21 Score less than 8 = Not for treatment Score more than 12 = Medical management until age over 5 months old.

Treatment Recently, prognosis of patients with “Vein of Galen” has improved, largely due to improvements in endovascular treatments and techniques. These technique involve the use of the catheter that is inserted in to a feeding artery to block off the supply by using coils and glue like substances.

Fraser’s Progress (2nd Embolisation) A week after the 2 nd embolisation, Fraser came off from ventilation A month later, the family went home together (discharge from hospital)

3rd embolisation The family celebrate their Fraser’s first Christmas together.

4 th Embolisation After the forth embolisation, Belinda and Steve saw a huge leap forward in Fraser’s development. He came off from his diuretics. His size of the heart was normal and the pressure in his lung had decreased.

5 th Embolisation Fraser is doing better than ever. He is starting to take few steps while holding on and now he is able to speak few words. Total of 99% of feeder were shut down. Fraser is now 16 months old.

Team Management Team approach is critical to successful management Fetal medicine Neonatology Pediatric cardiology Intensive care Neurologist Neurosurgeon Interventional Neuroradiology Patient Neonatology Peadiatric Cardiology Intensive careNeurologistNeurosurgery Interventional Neuroradiology Fetal Medicine

By preparing this presentation, I have learned many things. I communicated with Belinda and Steve via weekly s. Belinda wrote to me: “We have learned to celebrate every success,however small it is and to treasure every day that we have together. Some days it is really hard, but we get there. We get there with support from each other, our families, friends and the many wonderful professionals who are on Fynn’s “team”.”

I have also learned how I and my profession could impact on someone’s life without realizing it. I am in a very powerful profession. I am a nurse. Belinda wrote: “Thanks so much for everything that you have done for our little Fraser. I remember the first time we met you on the morning of Fraser’s very first procedure. You really helped to ease our worries and keep doing so before each procedure. When we see you we know that you will be in there with him and it helps us feel a little better! It is so nice for us to have the continuity of having you there caring for him and us each time. A big thank you from us all.” She also wrote: “There are times when I really thought that Fynn wouldn’t make it to one week or even one month old, but like the surgeons told us the first time that we met them, and every time we’ve met them, “Take each day as it come”. It has taken us a long time to be able to do just that.”

To conclude my presentation, I would like to share a poem. Belinda found this poem in a book about living with a disabled child. She reads it time to time. Belinda wishes to share this poem with you all… “Welcome to Holland” by Emily Perl Kingsley ©1987 Emily Perl Kingsley. All rights reserved*

I am often asked describe the experience of raising a child with a disability – to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It’s like this ………

When you’re going to have a baby, it’s like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. To the Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It’s all very exciting. After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, “Welcome to Holland”.

“Holland?!?” you say. “What do you mean Holland?? I signed up for Italy! I’m supposed to be in Italy. All my life I’ve dreamed of going to Italy”. But there’s been changes in the flight plan. They’ve landed in Holland and there you must stay.

The important thing is that they haven’t taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It’s just a different place. So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.

It’s just a different place. It’s slower-paced than Italy, less flashy than Italy. But after you’ve been there for a while and you catch your breath, you look around….. and you begin to notice that Holland has windmills…. And Holland has tulips. Holland has Rembrandts.

But everyone you know is busy coming and going from Italy… and they’re all bragging about what a wonderful time they had there. And for the rest of your life, you will say “yes, that’s where I supposed to go. That’s what I had planned”.

And the pain of that will never, ever, ever, ever go away… because the loss of that dream is a very very significant loss.

But, if you spend your life mourning the fact that you didn’t get to Italy, you may never be free to enjoy the very special, the very lovely things, about Holland.

Thank you