I'm also a mother of a PHACE Syndrome child. She was diagnosed at 4 weeks old after having major heart surgery. She is now 3 years old and there is still a lot to learn. Many doctors aren't even familiar with PHACE Syndrome. Please help us bring awareness.

The Mighty Quinn Quinn Michael Duncan was born on May 1st, 2006 in Sault Ste Marie Ontario Canada at 38 weeks gestation via planned cesarean section. Quinn is the youngest of three wonderful loving little boys. At about 8 months gestation Quinn's fetal heart rate became very high. I was repeatedly put on a fetal heart rate monitor as the rate was well over 200-210 at times. Ultrasounds and blood tests were run, but no cause was found. I had a number of ultrasounds done. We noted in each ultrasound that Quinn would not show the right side of his face. The technologists would repeatedly try to coax him to roll over but we never saw the right side. There were no complications at birth and his apgar scores were 8 and 10. The only thing that was noted was that he appeared to have some bruising on his face surrounded by what appeared to be a white outline. (Known in the vascular anomaly world as a halo) Within the white outline there were many many tiny blood vessels which were very visible on the outside. A paediatrician was called to come and take a look. His right upper lip was also malformed, missing 25% of the tissue. I also noticed that he did not appear to have a rooting reflex on the right side of his face and did not respond to touch in that area. The paediatrician thought it may be a birthmark and wanted to see him in a week to be sure. We thought nothing of this and brought our beautiful boy home 3 days later. Three days later it became obvious that the "birthmark" was here to stay. I began researching birthmarks and I was introduced to an entire new world of vascular anomalies and associated syndromes. I was devastated to learn that my son might have more than just a birthmark. The term Port Wine Stain (A Vascular Birthmark) had been used so I was determined to learn all I could before his appointment. This is when I learned Quinn might have a syndrome called Sturge Weber. The odds of this were low and he hadn't had any seizures which are common with that disorder so I was cautiously optimistic. The next day Quinn's doctor confirmed that it was in fact a vascular birthmark. She referred him to a Pediatric Dermatologist for an evaluation. At that moment our lives changed,but we could never have been prepared for just how much. She referred Quinn for a Cat Scan and an eye exam to look for disorders associated with Sturge Weber. That night I noticed what appeared to be twitching of his hand and foot. I became concerned because Sturge Weber can include seizures. I wasn't sure if he was dreaming or if I was imagining it. During this time he developed what we thought was either a chapped upper lip, or a nursing blister, which just kept getting worse and more and more painful. It bled constantly. Progressively over the next two weeks, my husband and I noticed this "twitching" Everyone kept telling us he was just dreaming. Then a few of them witnessed it and we decided to try to video tape the next one. The next one lasted almost half an hour and was much more pronounced. We were terrified. We rushed Quinn to our local emergency room and he was admitted. He continued to have what were then confirmed to be seizures,despite medical intervention. Quinn and I were flown by air ambulance to The Hospital For Sick Children, in Toronto Ontario which is 8 hours from our home. Quinn's daddy drove down behind us, not knowing what he would find when he got there. Quinn was promptly seen by the Neurology team and given a Cat Scan. I will never forget that day, though I wish I could. The first thing the Neurologist said to us was that Quinn had,had a stroke just prior to birth and it was the damaged area that was causing the seizures. This was a very surreal moment for me. My younger brother had also had a pediatric stroke which happened during his birth. I could not believe that history was seemingly repeating itself. As a result of the stroke we were told that Quinn had weakness on his right side and does not have full function of his right hand,thumb and shoulder. This was unexpected, but was only the beginning of what we would soon learn. We were told that Quinn had PHACES Syndrome a very rare disorder that affects the brain,heart,eyes,skin and as we learned later, (In Quinn's case) much more. It was discovered by the CAT Scan that Quinn had a hemangioma, not a port wine stain. The hemangioma (a vascular tumour) was present not only on the surface of much of the right side of his face but also deep within his skin in the cheek area. He also has a number of internal ones as well in the neck and nasal areas. It was then discovered that Quinn has a brain malformation. The right side of his cerebellum is significantly smaller than normal. (called a hypo-plastic right cerebellum) The cerebellum affects movement and co-ordination. Quinn was started on Prednisone (an oral steroid) to help slow the growth of the Hemangioma. He continued to take high doses of the steroids for 6 months at which point he was weaned due to some thickening of his heart. He also began taking aspirin every second day to help prevent another stroke as they were unsure of what the cause was. The cause of the stroke has been the subject of debate since the beginning but the current consensus is that it was caused by a blood clot in his heart. At this point Quinn was also in severe pain from what we had thought to be a chapped lip originally. It turned out to be ulcerated and the lip was rapidly losing tissue. Plastic surgery was consulted and they stated that nothing could be done until the hemangioma involuted (regressed) Quinn lost all of his upper lip and tissue half way towards his nose. Fortunately much of it did grow back but he still faces a significant deformity with much scarring. Quinn then had an echo cardiogram done to evaluate his heart, as a murmur was heard and he had had episodes of tachycardia even before he was born. The echo revealed that he had two small holes in his atrium called atrial septal defects. Quinn was released after two and a half weeks. He hadn't had a seizure in 10 days (He was put on Phenobarbital) and they were confident they were under control. We soon learned that with Quinn, expect the unexpected. During his follow-up visit a month later it was discovered that his hemangioma was growing rapidly. The cavernous portion under his cheek was very big. His ear canal was closed off and he could barely open his eye on the hemangioma side. His right nasal passage had narrowed and he had a noisy stridor. He had also developed more ulcerations on his face and was in severe pain which was not being controlled with codeine. He was in agony and it was breaking our hearts. Quinn was hospitalized and had surgery to put in a PICC line through which he received a chemotherapy drug called Vincristine. He also developed a Staph infection of his ulcerations and was on a morphine infusion to control the pain. Quinn began to have seizures again. It was determined that the steroids and the chemo drugs were affecting how the seizure meds worked. He was changed to two other drugs (Gabapentin and Clobazam) and was closely monitored in hospital as he had "break-through" seizures. Quinn was on the chemotherapy for exactly one year. At the end of that year the hemangioma was still significant but we did not feel it was life threatening any longer so treatment was ended. His surface hemangiomas have involuted considerably with the help of two pulse dyed laser treatments and natural regression. The deep hemangiomas have also begun to involute in his face. We are awaiting an MRI to see how things are looking on the inside. At 6 months of age we learned that Quinn has 1 lesion ( tumors) inside the brain. It is called an intra cranial hemangioma as it is inside the area contained within the skull. It is on the right side in his Internal Auditory Canal. At age one this tumour was stable. We do not know if there has been any change since coming off of the chemo and are presently awaiting an MRI to investigate this. Quinn's seizures are almost non-existent at this time. We only see occasional myoclonic jerks or short absence seizures. He is now completely off of all seizure meds. Quinn had many issues with the PICC line (a type of central line) he had three different ones over the course of his treatment. One PICC line broke and part of it ended up in his heart and lungs, prompting an emergency surgery to retrieve it. Once again he was flown by air ambulance to Toronto. His last PICC line repeatedly became infected and had to be pulled. He had surgery to implant a port which we are currently waiting to have removed. Physically, Quinn faces a number of challenges, in relation to the stroke, brain malformations and tumours. He is beginning to use his right hand much more often and is gaining strength on his right side. At 11 months of age he was able to sit unassisted and at 13 months he was able to completely roll over. At 20 months of age, 2 days before Christmas he stood on his own two feet giving us the best Christmas present ever. We are confident that one day he will walk. Quinn faces many obstacles in the speech and language areas. This area was damaged by the stroke. His development in this area is very behind but he has a fantastic speech therapist who is working very hard with him weekly. Quinn has some GI issues and a vitamin D deficiency and is being followed by a GI specialist. Recently a number of obstacles have confronted Quinn and he will be going through a number of assessments to try and figure out what is going on so that we can give him the best possible start. He will be assessed soon for Autism which has become our latest concern. He also suffers from migraine, one of which saw him hospitalized this fall. Quinn is followed by Neurology (Stroke), Neurology (Epilepsy), Neurosurgery, Hematology, Oncology (Toronto),Oncology (Sault Ste Marie), Dermatology, VAST, Plastic Surgery (Sick Kids), Plastic Surgery (Laser at an outside hospital) Cardiology, Opthalmology, Ocu-plastics, Developmental Pediatrics and GI. Quinn also has a local team consisting of an Occupational, Speech and Physical Therapist he sees weekly. We travel to Toronto (8 hours away) 1-3 times a month. The process of reconstruction has begun. He has had two laser surgeries to date and will be having surgery to reconstruct his eyelid in the near future. He has ptosis (drooping of the eyelid), ingrown eyelashes and a lid that has been damaged by the hemangioma. It is interfering with his eyesight (he has astigmatism and ambloypia) and the lashes are causing great discomfort and there is a risk of scratching the cornea. Reconstruction of his lip and mouth area will be done at age 3 or 4 before he goes to school. He will also have resurfacing of the scarred areas at a later time. Quinn is a wonderful little boy who just happens to have more than a few obstacles. They may be big ones, but that is not stopping him. Nothing has stopped Quinn and we have learned that he is the toughest little man out there. He has indeed earned his nickname, "THE MIGHTY QUINN" Many people have been following Quinn's story and we feel incredibly blessed as a result. We are often told that his smile has endeared him into the hearts of many. We consider all of our new friends to be an extended part of our family. Thank-you. Thank you for supporting,praying for,loving, and for seeing what we have seen all along, not a boy who is defined by his "disorders" Though he is mighty in many ways, most importantly, he is Quinn. Thank-you for taking the time to read Quinn's story. It is far from over so please stay tuned. ......to be continued. __________________ Jen PHACE Syndrome Community Director http://www.phacesyndromecommunity.org Mom to Quinn 3 Years Old (PHACE) Quinn's Website! http:www.themightyquinn.ca

http://allthingsizzy.blogspot.com/ Izabell was born in March over a week late after an uneventful pregnancy. She was 8 lbs 15oz! She had a small birthmark on her cheek. The doctors said it was bruising and would probably go away. The doctor checking her in the hospital noticed her hips clicked and told us to have our pediatrician check them on her two day check up. She said that she probably has Congenital Hip Dysplasia. Izabell looked great and we spent 24 hrs in the hospital and then we all got to go home. Izabell's 2 day check up came and they did diagnose her with congenital hip dysplasia and referred us to Seattle Children's Hospital. At that visit her doctor also told us that she might have a port wine stain on her face and we would need to see a dermatologist sometime in the next couple of months. Izabell had lost a little weight but that is normal for an infant in the first couple of days. They said she looked good. At two weeks we noticed she was working harder to breath and took Izabell to the doctor again. The doctor on call told us she just had a cold. So we were sent home armed with saline and a bulb syringe. Izabell was nursing every hour for about 10 minutes at a time but she seemed to be gaining weight so no one was worried. At about three weeks I noticed her feet looked a little puffy. No one else thought they looked bad, so I brushed it off as my being tired and a new mother. Izabell was put in a Pavlick harness for her hip dysplasia at three weeks of age. The harness went over her shoulders and wrapped around her legs holding her hips at a 90 degree angle to help her hip sockets develop. She was to be in this 24 hrs a day. I could no longer see her feet because of the harness nor could I undress or bath her. She started sweating a lot at this point. She also started to bob her head when she breathed. Izabell's hands started to look puffy to me at around 4 weeks old. I called a nurse at her pediatrician's office and told her I was worried. I told her about Izzy's hands turning cold, swollen and a little purple. She told me that newborns had slow circulation and that I was just worried being a first time mother. She said as long as they can warm back up she is probably fine. She said that the hip harness is probably too tight and making her sweat. I was annoyed at this point but her hands could warm up and the nurse did not think Izabell needed to be seen. Izabell was being followed by the orthopedic surgeon for her hip dysplasia at Children's Hospital and had an appointment the next day so I knew she would be seeing a doctor and decided to ask him his opinion about her hands and the sweating. I knew that the harness was not too tight because I could slip my fingers between her and the harness. At the appointment her orthopedic doctor kept looking at her neck because of the way she was breathing. He also noted her swelling and asked me what the doctor had said. He agreed that the harness was not too tight. He did have me change Izabell's shirt and thought that it was too tight and the culprit for her swollen hands, I told him that it was not too tight a day ago and that something was wrong (later we found out that she had extra fluid because of heart failure). He told me to come back in a week because he wanted to check her again. In that week Izabells cold was getting worse. She would start to cry and then grunt and then she would breathe normal again. I do think everyone was starting to think I was crazy. I thought about taking her to the ER but I didn't take her because she was going to the doctor in a couple of days. People kept telling me that I was a new mom and just nervous (that was true, but I knew something was wrong). Izabell had been surrounded by doctors at the hospital and I thought that if anything was significantly wrong someone would have noticed. She was also around her grandfather who was a doctor and her uncle who is a pediatrician so if something was wrong I thought they would have noticed. She is a sneaky little girl :). She did not have a lot of warning signs and the harness hid most of her swelling. The next week at her orthopedic appointment the doctor said that she was looking very swollen and he thought it would be a good idea to run a blood test. He said that she might have something wrong with her thyroid. He said that he is an orthopedic doctor (bone and joint specialist) and so he would give the results to her pediatrician. He promised that he would call me later that day and tell me what the results where. When they did the heel poke on Izabell she did not cry she just stared at me. They had a very hard time getting any blood but after three pokes and a lot of effort they did get enough for the test. Izabell did not cry once. I thought that was very odd and they said that it was strange and she was just really good. Around three that afternoon the doctor called as promised. He told me that there was definitely something wrong with Izabells blood work and that I needed to bring her to the hospital. He said the ER knows you are coming and they are waiting for her. I was so scared at that moment. He said something might be wrong with her liver or kidneys but they would have to see her in the ER to figure out what was really going on. I drove to that ER praying that she was going to be all right. Now I wonder why they didn't tell me to call an ambulance but I guess at that moment they did not know what was truly going on with her. So at six weeks old I rushed Izabell to the Hospital. When I pulled up to the door they took Izabell out of my arms and checked her stats (oxygen saturation). They put her on oxygen and started calling other doctors into the room. Her heart rate and oxygen saturation percent were very low. She had no pulses in her lower body at all but her upper body had weak pulses. At the time I did not understand exactly what that meant; I just knew that she was seriously ill. Her father showed up shortly after we got to the ER. They did a chest X-ray and found that her heart was enlarged. An Echocardiogram, EKG and more doctors followed. They told us that Izabell was in heart failure and that Izabell has a congenital heart defect. I have never been so scared in my life. I have never cried so much. They explained to us that she had Interrupted aortic arch and a ventricular septal defect, and told us that without surgery she would not make it. I was able to carry her and hold her while they were setting up a room in the CICU (Cardiac Intensive Care Unit). I walked into the room and set her on the bed and knew that I was not going to be able to hold again her for a long time. They gave her some medicine to try and open her PDA (Patent Ductus Arteriosis) but it did not work, so a day later Izabell had a catheter angioplasty to open a path for blood to get to her lower body and during that procedure they took images of her hearts anatomy. They told us that a baby with this heart defect is usually critically ill in the first week of life. They were surprised Izabell did so well for so long. Izabell was now six weeks old! The catheter angiogram showed that Izabell also had an arterial defect that went from her heart to her lower aorta (past were it was interrupted) and it was giving her body a small amount of oxygenated blood. That is why she did so well for so long. They waited a while to let her heart and body lose some of the excess water and get stronger before the high risk surgery. Izabell had open heart surgery a week later. That was one of the hardest days. Izabell was in the OR for over nine hours. At the end of her surgery one of the two the surgeons operating on her came out to tell us that the repair was done but Izabell's heart was having trouble beating and they might put her on ECMO (Extra Corporeal Membrane Oxygenator - which is like a smaller heart lung machine). I was so scared. Izabell heart was so weak from being in heart failure that it was having trouble starting back up after they had stopped it. While the surgeon was explaining how ECMO worked and how they were going to hook her up to it, the other surgeon called and informed him that Izabell's heart had started to beat stronger and that they did not think ECMO was needed. I was so relieved and still very scared. They said that the next 72 hours would be hard and if she made it through that it would start to get better. That night Izabell slept with the ECMO machine next to her bed just in case. She had an open chest and was very swollen. We were allowed in the room a little while later and I was in shock from how she looked, but so grateful to be able to see her again. That night was very hard and Izabells CICU room was full of doctors and nurses working to keep her stable. Izabell had a hard recovery, but she did get stronger every day. She developed chylothorax from the surgery and was put on a special diet. Izabell also had heart block from the repair. After the surgery Izabell's birthmark turned bright red and was spreading across her face. The ICU doctors worried that she had a clot in her neck and I told them it was a birth mark but they ordered ultrasounds to check for clots anyway. No clots, they told us the birthmark is a hemangioma. A week later Izabell went back to the OR to have her chest closed. A week after that Izabell had the breathing tube out and for the first time in 28 days I was able to hold my daughter. She weighed 9 lbs. She had an external pacemaker at the time. It was a little scary holding her and the pacemaker, but I could not wait any longer my arms needed my baby girl. A week later Izabell had an internal pacemaker placed. A couple days later she was moved to the surgery floor and for the first time in a very long time I could hold my daughter without any wires hooked to her. A week later we got to take her home. Izabell breathing was noisily but we were told this was from vocal cord damage from the breathing tube. When her chest healed Izabell went back into the Pavlick harness to help her hips develop. Her hips responded well to the harness and she came out of it when she was 5 months old. Her hips are getting stronger and she is starting to crawl now! When Izabell was 14 weeks old when I took her to the dermatologist for the first time. Her dermatologist diagnosed her with PHACES Association. I was so scared to hear that there was more that we would be facing. She told me that Izabell needed to see an ENT because of the way the hemangioma was spread across her neck and mouth. She was concerned that Izabell had some hemangiomas in her throat. Izabell saw an ENT the next week and was put on oral steroids and was scheduled for an angiogram and CT scan. She cannot have a MRI/MRA because she has a pacemaker. The CT showed that Izabell had normal brain development, showed some deep hemangiomas in her airway and also some narrowing at her repair site in her aortic arch. Izabell had laser surgery on her airway to remove some hemangiomas from her vocal cords at 4 months. She had another surgery to remove a Subglottic hemangioma at 9 months. She has been on steroids since she was about 4 months old and is still currently on them. She also had another catheter angioplasty to stretch her aortic arch suture line because it narrowed and was causing her to work harder. Her heart function was poor after her surgery. Her heart has been getting stronger every day. At five months her cardiologist said her heart function was on the low range of normal (he dad and I did a little dance) and at her last appointment they used the word terrific to describe her heart function! Some valves in her heart and her arch are still being watched very closely but she is doing very well now! She has an appointment with cardiology every 8 weeks now. Izabell had a swallow study when she was 7 weeks old and was unable to swallow thin liquids without aspirating them. She had a NG tube and I was taught how to feed her that way till she got a little stronger. She could swallow thickened liquids but needed to get stronger to be able to suck them from a bottle. Izabell had a feeding tube for about 6 weeks and then started taking enough formula by mouth to switch over to bottle feeds. She has not yet been able to swallow thin liquids without aspirating them, and we are still not sure why. I nursed Izabell until she went to the ER. I started pumping the night. I pumped for about 6months trying to give Izabell the best start. My body starting having trouble producing milk and I eventually stopped pumping. It was very hard to stop and let the idea breast feeding go. She is on a special formula and is doing well on it. She is starting to eat solids and seems to do well with them. We are hoping as she gains strength she will be able to swallow thins. She is being followed by all the doctors closely and is still on steroids for the hemangiomas. She is being referred to a pulmonologist because without the steroids she still has some trouble breathing. She is almost ten months old and has had over 6 surgeries. She has occupational /physical therapy and speech therapy once a week. People have asked me if I am angry with any of the early doctors and nurses who did not catch Izzy's heart defect. My answer is no. Izabells heart defect was tricky to catch. She did not have a murmur that was audible. We have the same pediatrician and we think he is great. I have learned that just because a doctor or nurse doesn't think you need to be seen doesn't mean you have to accept that. I have learned that I have the right (with out offending anyone) to tell them that I am not OK with waiting and I want Izabell seen. Izabells health has been a learning experience for everyone including her medical team. We have had a lot of scary nights, learning experiences, and also wonderful moments with Izabell. I have learned to trust my judgment and to never let someone tell me I am paranoid about my daughter. Every time I call her doctors office he listens and sees her now. She has had plenty of trips to the ER, some that are not too serious but there is no way I am going to ignore my feelings again. Parents, Mothers, know their children better than anyone else. If you think something is wrong, act on it. It may save your child's life. My daughter was lucky that someone finally listened and that we were at a wonderful hospital. She is a very happy easygoing little girl. She smiles at everyone she sees. She is starting to talk and crawl. Izabell's Almost Two now Update Izabell had another hemangioma removed from her airway in May and June. She has had three laser treatments on her superficial hemangiomas during the summer to prepare for a nasal tip hemangioma removal that was done in October. Those surgeries went well. She has been off steroids since about July of 07! Her airway is still narrow due to the hemangiomas but she has been breathing well. If her airway starts causing trouble again we are told she may need an airway reconstruction surgery. We hope that she will not have any problems and can avoid this. Her last surgery was in late September! That was four months ago!! This is the longest she has gone without needing surgery and she is doing great! She used to get out a breath very quickly. She would pant when crawling and was low energy. After the surgeries she has enjoyed a much higher energy level and at 18 months old started walking!!! Her heart has continued to get stronger and she is now seen every six months! She has some areas that need to be monitored and will be on medicines and pacemaker dependent her entire life. She takes all her medicines daily and does a wonderful job taking them! It is natural for her to take them. Her hearing and eyes are followed regularly and are doing great! She was prescribed glasses at 11months and prefers to have them on. She has some hearing tone loss in her left ear due to the hemangiomas on her ear drum but not a concerning level. She is seen by a wonderful pediatric neurologist who has put together a team of doctors to help with preventive care. She has had Doppler imaging done in order to view her cranial vascular abnormalities. We hope that this will help her medical team follow and treat her if any concerns arise. She cannot have an MRI because of her pacemaker so Doppler is currently is the safest way to follow her.

Absolutely. Doctors know very little about this disease and have even less knowledge in how to properly treat it. My child has suffered permanent damage because she was not correctly treated quickly enough, and this was at a major Children's Hospital.

My daughter was diagnosed with PHACE at 4 weeks old. I had no idea it was so much more than just a birthmark. Now she is 1 year old. She still has ongoing tests to figure out what's going on. I have to drive 6 hours just to get her proper care. The doctors in my area never heard of this. I think this is a great idea to raise awareness.

Kaylynn had a large segmental hemangioma covering a 3rd of her head and PHACE syndrome. Her pictures and story can be read at www.hinthecity.com. Early intervention is the key, just like with cancer that you talked about. I was diagnoised with breast and thyroid cancer when Kaylynn was 9 months. Please help save PHACE children's lives.

Please feature PHACES on you show. It would help bring awareness of this troubling disease to the millions of people who watch your show everyday.

My daughter EmmaLeigh now 6 was diagnosed with PHACE syndrome at 3 weeks of age. It has been a long and hard journey, as well as a very joyous one as well. We have been through numerous doctors appointments, tests as well as three heart surgeries as a result. She is a fun loving caring little girl who lets nothing get her down. Please consider doing a segment on PHACE, we have so many challenges that as familes we have to face or to watch our little ones face.