Thursday, April 30, 2015

Our Sweet Little Asher PHACE

So many of our friends and family members have been so supportive once they heard that we are dealing with some serious medical concerns with Asher, so the Friedbaby blog seemed to be the easiest place to write a complete update to fill you all in on what is going on, the process, and where we are now. Forgive me for the very, very long and wordy post.

When Asher was born, he came in such a hurry that he was born in one big push and got a black eye in the process.  For his first three weeks, it healed slowly, and as the major bruise faded, we noticed what looked like some prominent veins across his eyelid and along his temple.  When I mentioned them at a routine well check when he was two weeks old, our pediatrician said it was definitely too soon to know whether it was anything to worry about but we should keep an eye on it.

Fast forward to mid-April, and we had a double "sick visit" for a slew of minor concerns for Colin and Asher after our Ohio trip. Colin's minor ailments were nothing to be concerned over, but Asher's were. We came in for his clogged tear duct that wasn't improving well, and while the pediatrician didn't seem concerned about it, he was deeply concerned about the way the vessels over and around his eye looked.  He explained that it was a separated hemangioma, and suggested that we call Lurie Childrens Hospital to be seen by Dr. Mancini or Dr. Chamlin as soon as possible.  If we couldn't get in within 2-3 weeks, he would pull strings to make it happen.

A "Before" shot of Asher's separated hemangioma

When I called, they gave me an appointment three weeks from that date.  I explained why I needed the appointment, and they told me someone might get in touch about an earlier appointment, and within 24 hours, I got a call from a nurse who told us there was an opening in just a couple days.

So on April 21st, Asher and I headed to the dermatologist, totally not expecting all that was to come. We got initial height and weight measurements and a brief overview of hemangiomas from the dermatology fellow on staff.  Then Dr. Chamlin came in, and she explained that because of the location of the hemangioma, we would likely need to treat it with a heart medication called propranolol that is commonly used now to treat hemangiomas, but first we would need to run some tests.  He would need an echo and EKG with a cardiologist, an MRI and an ophthalmology visit.

Cue the tears. The doctor wanted to fast track these tests as quickly as possible, which of course got us worried that something could be terribly wrong. Essentially, most of the time a hemangioma is just that - a type of birthmark - but rarely they are part of a larger medical condition where the hemangioma is the only visible sign (called PHACE Syndrome).  The fellow reassured me that she would be giving advance notice to all of the departments we would have to contact so that by the time I called the next day, they would understand the urgency and be more likely to get us in quicker.  And amazingly, before I went to bed that night, two of the three had called me and scheduled our procedures quickly for later that week.

The next morning, we went to the Lurie Outpatient Clinic on Clark for Asher's cardiology work up. He was a trooper, flirting with the nurse during the EKG and napping through most of the echo.  At the end, I met with the cardiologist, Dr. Vitullo, who told me that Asher's heart looked perfect.  The next day, we went in for the MRI.  Poor Asher had to fast for seven hours before the scan, and even then, he was mostly cheerful despite a crappy night of sleep, and he handled the anesthesia beautifully, did great for the MRI and slept it off most of that afternoon.  The nurse told us that we likely wouldn't hear anything until the following Tuesday, as it usually takes 2-3 business days for the radiologist to write up his report.

So imagine the shock when we got a call the next morning from the dermatologist telling us that there were some irregularities in Asher's MRI. It worked out well that I missed her call, so she spoke with David first, who was at work and had a quiet environment to really soak in the information. They told us that Asher has PHACE syndrome, had two small cysts in his brain and a couple abnormally shaped blood vessels leading to his brain. Only ~1,000 people have been diagnosed since the syndrome was discovered in the 1990's, 90% of which are girls.

It was scary, and still is, and we have learned a tremendous amount in the short number of days we've had since receiving this news. I'm going to do my best to explain it here.

David is the primary researcher, and he has been handling most of the questions for the docs while I've been on baby and toddler wrangling duty...and boy do I feel lucky on that front - David has truly treated this diagnosis as seriously as he takes his job - he has read so many studies and articles over this past week and goes into these appointments armed with a ton of information so we know the right questions to ask.

PHACE syndrome is the association of a large hemangioma, usually on the face or neck, in combination with one or more other abnormalities. PHACE is an acronym, and as of now, Asher is only dealing with P, H and A (which is normal - it only takes the H and at least one other major abnormality to be diagnosed). The C stands for Cardiac abnormalities, which thankfully didn't appear on any of his scans, and the E stands for Eye abnormalities, and our appointment yesterday with Dr. Yoon at Lurie showed that Asher's eyes show no signs of developmental issues, and right now, his vision looks to be undisturbed by the hemangioma.  The H stands for Hemangioma, which we knew from the start from our meeting with the dermatologist that he had, and the P and A were both issues we discovered via MRI results.

The P stands for Posterior Fossa - brain malformations present at birth.  In Asher's case, this was displayed via two small cysts on his brain. The A stands for Arterial abnormalities, which means that there are abnormal blood vessels in the head or neck.  Asher's right carotid artery is narrower than it should be, and another major artery is spiraled when it should be straight.  While we are still waiting for our neurologist appointment on May 29th to go over all of these results, the dermatologist has spoken with him extensively about our case. He assured her that the small size and location of the cysts right now should not pose too great a threat unless they grow, although we will meet with them fairly regularly to monitor his development through the course of his childhood, and rescan if/when necessary. He also explained that Asher's blood flow to his brain is strong, despite the malformations, because the arteries on one side of his head are completely normal and his circle of Willis (the back-up system that reassures that blood flows to all parts of the brain) was unaffected.

If you are curious and want to read more about PHACE, here is an excellent link with a very thorough overview.

Today, we went back to see Dr. Chamlin to get started with the medication to treat the hemangioma. We were there for more than 2.5 hours going over all of the protocols and side effects to watch out for, and they checked Asher's heart rate and blood pressure twice after administrating the first dose to make sure he had no averse reaction.  So far, so good.  He will likely be on these meds 3 times a day (eventually weaning down to twice and then once) for the next 9-12 months, and hopefully by the end of treatment, you'll never know that the hemangioma is there. One of the toughest parts is that a major concern is low blood sugar, so we will have to wake him overnight to eat once he goes more than 8 hours since his last feeding...just what parents of a new baby want to hear - you're never going to sleep through the night again...not like he is doing that right now anyways, but I digress.  We go back to the dermatologist and ophthalmologist in late May for follow ups to see how the medication is (or isn't yet) improving the hemangioma.

By the end of May, we will have a better picture of what these neurological diagnoses mean in terms of short and long term impact on Asher's life.  Overall, this PHACE diagnosis should not have an impact on his quality of life or life span, and for that, we are so very thankful.  In all of our visits to the hospital over the past several weeks, it took very little - just looking around as we walked through the halls - to realize that despite all the challenges he has faced so far, and no matter what is in store, Asher is so very lucky.  This is not ideal or easy, but it could be so much worse.  Moreover, Asher is such a sweet little guy and has really been handling all of the poking, prodding, missed naps and whatnot in stride, and for that we as parents feel so lucky.

Thanks to everyone who has reached out to us with your love, support and prayers. It means so much to all of us.  Please feel free to reach out if you have any questions, and I will update periodically on the blog, so stay tuned.

xoxo

Wednesday, April 29, 2015

And the time flies by - three month update

Asher's third month went much smoother than his second month by far. Developmentally, he has reached a few interesting milestones, from finding his fingers and beginning to bat at his toys to using his eyes to follow objects as they move across his field of vision.  He is a total chatter bug, experimenting with the many sounds he can create with his vocal chords, and it is absolutely the cutest.  


By mid-way through the month, the nightly hysterics had diminished to whimpers and slowly but surely, his tummy adjusted to the change from breastmilk to formula (not without any hiccups - we had a few weeks of needing to offer an ounce of apple juice to get him to poop).  He continued his fierce hatred for the car, remaining calm only when an adult (me) sat squished between the car seats helping to soothe him and keep the pacifier in his mouth.  


We have found that as a non-cuddly baby, he is happiest laying on the floor gazing up at the person sitting beside him and having sweet little conversations.  He has also shown a real love for bath time, relaxing comfortably in his tub (on the couple nights a week he bathes - ah, second child).  


In Cleveland, we dropped the dream feed and he magically began sleeping nearly all the way through the night, only to return back to Chicago, reach his three month growth spurt and officially back slid into a terrible sleep routine, waking 3+ times a night again (whomp whomp).  After our trip, we slowly began the transition from rock and play to the crib, which has been very very gradual, since he manages the first half of the night decently in the crib, but struggles from then on to settle flat on his back.

At the end of the month, after our Cleveland trip, his eye was very irritated from a clogged tear ducts that hadn't cleared on it's own, so we went to see our pediatrician.  Dr. Necheles was very concerned about the growth of the hemangioma over his eyelid (which only three weeks before we had been told by another pediatrician in the practice that it was not a major cause for concern and would clear on its own by age 2), and referred us to Lurie Childrens Hospital's dermatology department to be seen by a specialist.  More on that to come, but suffice it to say, I am glad that I played the role of squeaky wheel and insisted we see the doc for something fairly non-emergent, as this visit was what got a very important ball rolling for us.

Tuesday, April 28, 2015

The Best and Worst Week

This year, Passover fell over Colin's preschool spring break, and the first Seder fell on a Friday, so it only made sense to go to Cleveland for the holiday.  And since he had no school, David and I made what we thought was the greatest plan.  The boys and I would spend a full week in Ohio, making the rounds to see family in Cleveland and Columbus.  Not only did it land on Passover, but the second weekend was Cameron's birthday party, so not only would we see the Friedmans but we would get to introduce Asher to Debbie's entire extended family and catch up with them too.  Seemed like a slam dunk.  Only hiccup was that David couldn't miss that much work, so he flew back to Chicago for the weekdays, and then met us in Columbus. Perfect, we thought.

And in many ways it was. We had a TON of time with our families, seeing great grandparents, cousins and friends who were all thrilled to see what a big boy Colin has become and of course they were so happy to finally meet this new Friedbaby. It was so precious watching Colin jump in the bounce house with Maggie, ride the roller coaster with Shai, wrestle with his cousin Cody and share a sweet bedtime routine with cousin Carolyn. Colin and I got some special one on one time to go bowling and to the movies, and he and Grandpa had a great morning of adventure at Chuck E. Cheese. It was amazing to see Asher snuggling with his many great-grandparents during our visit, and miraculously, Asher learned to sleep in amazingly long stretches during our visit, even pulling a full 11 hour night one night (but who am I kidding, that was clearly a unicorn moment - those skills have disappeared since.  One day, one day...).

And yet alas, perfect it was not.  The rest of this post reads a bit like a cautionary tale, for when you take an almost three year old out of his very predictable routine, change up his sleeping arrangements and remove Dad for five days, you're bound to end up in trouble. Colin was asking to go home by day 3 of 10, and twice attempted to jump out of the crib during the visit.  He has developed a fear of the dark, started waking up at an ungodly hour of the morning, and was (and still is) generally a grumpy overtired mess. Since we got home, we have been dealing with a new phrase from C: "I'm never going to see you again." He has a revived case of separation anxiety, and the crib jumping didn't stop - a week after we returned from Ohio, we switched him into a toddler bed after a long night of many, many jumps and long tantrums.

Despite all the challenges we have dealt with since the trip, I'm so glad we got to spend that special time in Ohio with family and friends. We won't be repeating the week-long adventure again any time soon - we have learned that anything more than a long weekend is probably too much for the little guys - but we are so happy we got to see everyone.  Here are the photos.
















And from the iPhone:

You'd never guess from this face that he could scream
 almost 2.5 full hours from Cleveland to Columbus.


Pretty much an overview of how bowling  went...

Asher and Howie :)

Colin and Maggie :)




Colin: "lets all snuggle"...?





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