Hannah's Journey with PHACE
As part of our September 2018 newsletter
Hannah was Raena and Seth’s first baby and they were so excited to meet her! She was born after a difficult but uncomplicated pregnancy. Finally, Hannah was born after a two-hour long c-section at 42 weeks and 5 days. There were about 15 anxious family members waiting to meet the beautiful girl!
She was gorgeous. So much hair and so tiny at 7lbs 8oz. She had been through such a battle her sweet face was bruised and her right eye was swollen shut. They also said she had some newborn rash making her face red. By all accounts, she was perfectly healthy and her exhausted parents had never been happier.
Starting on day one Hannah had not been able to breastfeed well. They said she had a pretty bad tongue tie, but that they couldn't do anything for it. When she was older she could have it clipped if it doesn't stretch out on its own. She was biting down and not sucking, but would swallow when milk was put into her mouth. Her mother was determined to breastfeed and Hannah screamed almost all the time until she passed out from exhaustion. They had kept her one extra day and despite her losing weight and not feeding well they were sent home and told that’s normal, breastfeeding is hard and she will get it and to just to keep trying.
Both parents were growing more exhausted and concerned by the day that something really was the matter with little Hannah. They had noticed she had hypotonia, was severely irritable and would stiffen her body at times. They asked her doctor could she be having seizures? Her mother had read feeding issues could be a sign of neurological problems and was really worried. The doctor said she was fine. Hannah's mother is an ICU nurse and the doctor suggested she was reading too much and too worried.
Hannah had developed a large blister on her top lip they assumed was from frantically feeding and the baby seemed smaller and weak. They bought formula and with the bottle nipple just held in the right spot in her mouth she could suck! Mother abandoned breastfeeding and began to pump and bottle feed. She was still only taking very small amounts and feeding frequently every 1.5-2 hours, but her pediatrician was not worried.
Her parents were worried about the rash on her face that seemed like it wasn't going away, but growing by the minute. It was on the entire right side of her face, around the beard area on both sides, her nose looked so tight and hard red like it was going to split, and her poor blistered lip was getting thicker. The three pediatricians that had seen her weren't worried, but her mom was starting to research on the internet and thought she was possibly allergic to something. She kicked the dogs out of the house and rewashed and rinsed all the linens, vacuumed everything and was basically going crazy with worry.
Then Hannah was crying and her mom noticed the thick red plaque rash was growing in her mouth! It was completely covering her tongue and roof of the mouth. Hannah would intermittently lose her voice when she was crying, like a whisper cry. Her mother rushed her into the pediatrician who looked shocked, since Hannah looked so much worse than she had when she had seen her just 4 days before. She explained it is a hemangioma and she should be seen by dermatology in Phoenix right away.
The dermatologist diagnosed her right away with PHACE syndrome. She explained that Hannah had a large segmental hemangioma covering 3 of the 4 facial segments, as well as inside her nose and mouth. They also noted her sternal pit and slightly sunken sternum. They explained they would be doing an echo, EKG, MRI and admitted her to NICU to monitor and would start propranolol when testing came back.
Hannah's cry was still mostly quiet, but she was not struggling to breathe. They were so wonderful and wanted to provide some kind of written information, but with a rare syndrome they didn't have anything, so the medical student had hand written a full page about PHACE. It was scary, but her parents felt relieved to finally be getting some help.
Dr. Hogeling was very kind and explained everything so well it was really helpful. Hannah’s testing all went well, and she had some amazing nurses in the NICU. Her final diagnosis was that she had defects in PHACS. They learned that her blister on her lip was actually a large venous ulcer from the hemangioma so they started treating it with mupiricin ointment and covering any other dry spots on the hemangioma with aquaphor.
Her MRI showed a posterior fossa cyst. Her MRA showed some arterial differences, but they felt she was at low risk for a stroke and that later on she could have migraines. She would be following up with a neurologist. Her EKG was normal, the echocardiogram showed a VSD and PFO with mitral valve regurgitation. They were not immediately concerned, and she would follow up with a cardiologist. They said the holes could close on their own or she may need heart surgery. Her ophthalmology exam was normal. They said since she was not having stridor or low oxygen saturations they would not do a scope down her throat at this time. They wanted to see if the propranolol helped.
They started her on propranolol and watched her for a few days in the NICU to make sure her blood pressure, blood sugar and heart rate were stable. Her propranolol was given 3 times a day, and after the second dose her hemangioma was visibly lighter and her cry came back! She had a lot to say, since she didn't like the IV line, heart monitors and oxygen probes. Then they got to take Hannah home again! Her first year was much better than her first few weeks, but remained hard.
Her parents decided for her father to close his business and stay home to take care of her. Her lip ulcer took about 7 weeks to heal and left a large scar. She remained failure to thrive and at her best was 10% on the growth scale but often below it. Her parents continued to work hard to feed her around the clock and she struggled with oral mobility and sucking. Her doctors felt that this would improve as the hemangioma continued to regress, so if she could just hang on and struggle through she could avoid a feeding tube. It was a constant threat with each weekly and then monthly weigh in. A temporary NG tube was not an option since she had the hemangioma in her nose as well and it could ulcerate.
She had monthly appointments with Dermatology, Neurology, Cardiology, Pediatricians, Orthopedics, Ear nose throat Doctor, she saw a geneticist and Gastroenterologist. At 2 months old they diagnosed her with hip dysplasia for which she had to wear the Pavlic Harness. It was just one more difficult thing for this precious little girl to have to go through! Hannah hated her harness, it seemed painful to have her legs strapped up 24 hours a day. They were compliant with it despite it all because they wanted to make sure Hannah could walk well and not need surgery later on. She got weekly hip ultrasounds and monthly X-rays for 12 weeks. The harness strap rubbed her chin a bit and caused another ulcer. This was painful and it took about a month to heal and left a large scar. A week after she got her harness off at almost 5 months old she started to crawl! She had a good few months, smiling more, crying less and playing. Very alert, she really noticed everything in the world and had an opinion about it!
She loved to laugh at silly dad, loved music and growling. not much for talking but she walked by 12 months old and was now unstoppable. Her heart defects had fixed themselves by her yearly check-up and she no longer needed to see cardiology. Great news!
At 15 months she welcomed her little brother! The feeding difficulties continued and as she got to be 18 months old she finally took her first bite of puree that she didn't spit out. She loved prunes! She got to where she would take puree from the pouches and drink it right down but most of her nutrition was milk in a bottle. Any solids she would choke on, and then never go back. They did a swallow study and it was all normal. She was in weekly feeding and speech therapy and working on expanding but then teething started.
The hemangioma was still thick on her top and bottom gums and it was so painful and slow for the teeth to break through it. She would scream and be frantic. Many times when this happened she stopped eating for 3-4 days at a time. Her mother took her to the doctor and hospital at least 10 times begging for help, medication anything. There was no help. they would say she's not dehydrated, she's fine, no baby will starve themselves to death. This lasted nearly 6 months and Hannah lost significant weight. She was also having severe meltdowns which her mother though was surely hunger. Both parents felt completely alone and devastated they couldn't even help their child. Couldn't even provide for a need so basic, they couldn't feed her. They were weighing her weekly and she was seeing the gastroenterologist feeding team at the Children’s hospital an hour away. Her mother was asking for a feeding tube but they felt she didn't need one.
While she was small, below growth chart, she was maintaining her weight. Her abdomen was large, her arms and legs skinny and you could see her whole spine, every rib her whole sternum. She looked unwell with pale skin and dark circles. She did not sleep well and cried a lot. She clearly did not feel well.
She was having what seemed to be migraines that would last all day. She would scream and hold her head and have to be in the dark. This was happening about 3-4 days a month. Both parents were beyond concerned and asking every doctor to help.
They started her on Pediasure through her bottle at around 2.5 years old and this helped a little at first. She liked the taste and drank it and did gain a little weight reaching the 2nd percentile on the growth curve. They did a EGD scope and abdominal X-rays which were all normal. The Pediasure helped with her weight, but her dysfunctional swallowing was still an issue. She had trouble clearing her own mucous and frequently choked and vomited. The Pediasure seemed to make her mucous thick. She started to become very constipated and vomiting 3-4 times a day.
Despite only holding down 250-500 calories a day (when she should have 1200 per day) she would have a good day here and there and somehow her weight stayed at the 2nd percentile. Her parents repeatedly questioned that she had not gained in months. At one point, Hannah’s mother began to cry in the doctor’s office, asked “Why am I the only one concerned with this?” They referred Hannah’s mom to see a psychiatrist as if perhaps that was the issue. Or perhaps they were sick of hearing her beg for help for her child.
After much effort, Hannah was accepted into the feeding program at Phoenix Children’s. This would be hard as it was an hour away. They sold their house and moved to Phoenix to make this possible. Shortly after starting in this program, Hannah was diagnosed with sensory processing disorder. She was working hard with OT and feeding therapy and getting stronger. They were focused on her hypotonia and feeding stamina. Then her vomiting, chronic cough continued to get worse, and the doctor started her on antibiotics. Within a few days she developed severe diarrhea with blood in it. Back to the ER, they diagnosed her with Adenovirus and C-Difficile infection. She became very labored in her breathing and was so weak for days she didn't even urinate. They gave a bunch of IV fluids and medications and she slowly recovered. She lost significant weight and she was only 24 pounds at age 3.
They recommended her for a feeding tube. It was scheduled about a month out as the soonest they could get her in. She recovered enough to hold down her Pediasure, apple juice and Cheetos and was sent home. She remained weak and she couldn't walk more than just around the house. The diarrhea returned about a week later so they went back to the ER. Her labs showed she was anemic and dehydrated. She hadn't urinated in 2 days yet they didn't want to admit her. Her mother really fought for this and they finally agreed, so Hannah spent about 4 days until she was rehydrated and eating little bits again.
They went home where she continued to slowly recover. She got her g-tube a few months after she turned 3 years old. She was very brave and accepted the g-tube well. She continued to vomit and be sick despite many formula changes and medications. It was devastating, they really feared they couldn't maintain her like this forever, even the feeding tube didn't help. It was very helpful in that mom could at least keep her hydrated as she could usually hold down water and juice even though the formula came back up. She was not gaining any weight or feeling better. Finally, her parents decided to stop listening to doctors on this subject. They started giving her pouches of puree through the feeding tube and realized she never throws up when it is real food. She would vomit with the formulas so they stopped giving them. They studied and learned how to do a well-balanced diet blended in her feeding tube with all real food.
She started to thrive! She stopped vomiting, started pooping normally and her color, mood and energy level improved. She was no longer starving to death before their eyes! She gained 8 pounds and 3 inches in height in the first month. It was incredible. She rose to the 30th percentile for the first time in her life. She was finally sleeping, maybe only up once through the night. Then she started having night sweats and waking up a lot through the night again. They did a sleep study and diagnosed severe sleep apnea. So she had her tonsils and adenoids removed in an uncomplicated surgery.
Hannah has continued to do well and gets her blended diet of fruits, vegetables, chicken, grains, and milk. She is now consistently at the 65th percentile for weight and 90th for height. She has endless energy and has not had a migraine in over a year. She has not needed to be hospitalized since before her feeding tube was placed. She is no longer anemic. She no longer needs laxatives to go normally. Every one of her doctors is happy with her progress and amazed at how far she has come.
She still struggles with oral motility and dysphagia, and is working with feeding therapy and OT. She eats her favorite dry crunchy foods and is slowly branching out to other foods. She still suffers some choking episodes. She recently learned to spit, which was a hard skill to master and she's proud to show you! This has helped her be more brave with eating as she can spit it out if she doesn't like it. She remains on propranolol but tolerates it well and her hemangioma hasn't ulcerated since she was a baby. She just started kindergarten and is doing so well. She has a medical 504 plan to get her feedings at school, but so far that is her only service or special need. Despite being so late to start talking at nearly 3, she has caught up by leaps and bounds. She is a happy bright kid and she feels good and healthy. She has made some great friends and her parents couldn't be happier.