We sure did miss our Boston family this past month and a half. It seems like we’ve been home so much longer. Guess with the girls getting out of school for the Summer and moving into our dream home that’s to be expected. 

Yesterday Sean, Julia, and I hopped on a plane and headed to Boston for some follow up visits. This was Julia’s first time flying and she was a pro. She had her first appointment yesterday afternoon with opthamology. If you remember in one of my previous posts I kind of complained about how they were nearly impossible to see (no pun intended 😉). Well now that we have been to a couple of appointments, we forgive them. Julia’s doctor has been great. This time he did another full exam of both eyes for any changes and had us get an ultrasound done of them too. Things seem to be about the same. We’re still not sure exactly what she can see out of her left eye, but it responded to light so we’re going to try patching her right eye for thirty minutes a day to help strengthen it and see what develops. Her doctor also spoke very highly of MUSC’s pediatric opthamology department so hopefully they will live up to his praise. 

Today was a very busy day for Julia. We started out with a visit to dermatology. Her bottom has still been healing from the horrible diaper rash she developed while in the hospital after her bladder closure surgery. Yes, her poor bottom has been trying to heal since the end of March. While it does look way better there are still a few areas trying to fully heal. We didn’t really receive any new information but I wanted to make sure there wasn’t anything more we could do since we don’t see our Charleston dermatologist until next week. We are looking forward to finally meeting her as we have heard only good things about her. 

After dermatology we headed to radiology. Julia needed to get a DMSA injection for a later scan to check on her kidneys. This was definitely the worst part of her day. The technician had a hard time finding a good vein on Julia. After finding one that may work it ending up not letting the dye go in so they had to try again. The second time did work but boy was Julia ticked off. We haven’t seen her that mad since her PIC line was removed after her surgery. After some cuddles we moved to another area of radiology to get an ultrasound done of her kidneys then another area to get an X-ray of her abdomen. Poor baby was worn out after all of that. Sean and I grabbed a quick bite to eat in the cafeteria, then decided to wait in the urology waiting area until our next appointment, the DMSA scan. 

In case you haven’t been paying attention, we really like the urology department. Especially The Big Three. At first Sean asked if we should go wait in the radiology waiting area for the hour we still had, but I said I’d rather go hangout in urology in case we could say some more hellos. Well good thing we did because all three of our favorite people were available to see us. We got Julia’s vitals done and went ahead with her exam which she passed with flying colors. We then went off to radiology one more time for the final scan. 

What we thought would be a quick 10 minute scan, which they preferred her asleep for, ended up being a thirty minute scan. And this was when Julia should be getting hungry, not tired. Luckily when they swaddled her she started sucking on her pacifier and fell asleep. We then went back to urology to review all of the imaging she had done. Everything looks great. She still has some reflux to her kidneys, but nothing to be concerned about. Julia has continued to heal nicely and her bladder continues to do what it should. After lots of hugs and trying to get them to move to Charleston, we headed to the airport. 

We are now back in Charleston with our big girls and ready to get some rest. Thank you Dr. Borer, Rosemary, Lauren, & team for a wonderful visit. We’ll see you in September. 

The Big Three

Here are “The Big Three.” Dr. Borer, Rosemary, and Lauren. They have helped us through one of the scariest times of our life. The level of care we received from these three amazing individuals was far beyond anything we could have imagined. Not only are they experts in the urology field, but they are experts in patient care. You can tell they truly love their profession and their patients. Not very many people can say they look forward to future doctor visits, but we can. The Big Three are officially a part of our family. See you guys in June!

Today was our last appointment! Yes, that’s right. Julia has been an amazing patient and we have received the all clear to leave Boston tomorrow morning! Our girls think we won’t be home until Saturday, so we’re going to surprise them a day early. So if you see Kaitlyn and Claire don’t spill the beans.

Ok, now what?

March 2 was one of the happiest days of my life. Put it up there with my wedding day, and of course the birth of our other two daughters. For a pregnancy that was incredibly stressful from the beginning, I was happy to finally meet my new baby girl. The team in the operating room was absolutely amazing. Having had two previous c-sections I knew what to expect, but the team that day made it the best experience I had. They talked to me and asked me questions from the beginning. We carried on conversations the entire time and it really helped me feel at ease. I am so grateful each and every one of them were working that day because the dynamic between all of them made what I thought for sure would be an incredibly stressful delivery, anything but.

Isn’t that the best video ever?! I was so excited to hear that the hospital had the clear screen for moms having a c-section. Hearing her cry and seeing her wiggle was such a relief. While I laid there letting the doctors finish working on me, Sean followed Julia. I knew there was a team ready to check her out as we knew she had a few concerns (bladder exstrophy and pulmonary valve stenosis), so I patiently waited for Sean to come back. When he did he just started to cry. I didn’t know if it was a good cry or a bad cry. I looked around for some clarification from the anesthesiologist who had been by my side from the beginning, but then Sean started to talk. She was beautiful, and crying, and perfect. Then they started to move with her so I told him to go with her as that was always the plan. The sweet anesthesiologist sat down next to me knowing I wanted to know what was going on. She held my hand and said that Julia’s left nostril wasn’t fully formed, and two of her fingers on her left hand were fused together. Ok, so there is more to our little princess than we knew.

Sean stayed with Julia as they took her to the neonatal intensive care unit (NICU) to fully check her out. My mom waited outside the OR for me and when I was ready a couple of nurses wheeled me in my bed to the NICU to see Julia. Again, having had c-sections before, and one that had to be taken to the NICU, this was amazing to be able to see her so soon after birth. I admired my sweet new baby girl and held her hand before being taken to my room.

Cue the questions. How was she doing, what are these new discoveries, what do we need to worry about? The team at the Brigham & Women’s Hospital and Boston Children’s Hospital have a wonderful relationship. There is even a bridge connecting the two hospitals. Dr. Borer, Julia’s amazing pediatric urologist, visited her every day she was in the NICU to check on her and make sure the nurses knew how to handle her bladder care and to update us on how she was doing. Other teams were also consulted. Julia’s skin had quite a few areas of concern, her left eye (which we already knew was going to be small) wasn’t opening, her left hand had a couple of fused fingers, and her left toes were a little different. Dermatology came and gave suggestions on skin care, plastic surgery came by to check on her, cardiology checked on her heart, orthopedics checked in, and eventually ophthalmology came by.

Sean, my mom, and I spent 90% of the day with Julia. We listened to rounds every morning with the doctors, listened to the specialists that came by and got their information for follow up appointments, and learned how to care for our baby girl. Now we were prepared for the bladder, the eye, and the heart, but everything else was a surprise. When we first learned something was different with this pregnancy we were sent to a genetic counselor. When we came to Boston for a second opinion back in December, their genetic team was involved too. We were told when there are multiple anomalies they like to check to see if they are linked to a syndrome. All of teams were communicating behind the scenes and eventually genetics had an idea of what test to send out. We were told we’d have a follow up appointment with genetics in early April to receive the results.

Ok, now fast forward. Julia has come “home” to our Boston apartment, and we were preparing for her big surgery. During that time we had a variety of follow up appointments with the above mentioned specialists. One of them was dermatology. At this appointment we didn’t expect to receive much information. Little did we know they were going to share a whole lot of information with us.

The attending physician came in followed by three or four residents and looked at Julia from head to toe. The attending pointed out a variety of areas on Julia’s skin and they were all commenting in their dermatological terms and taking pictures. Sean and I were frantically trying to take notes and listen to everything they were saying. The attending sat down and explained it all. Focal Dermal Hypoplasia, also known as Gorlin-Goltz Syndrome. This is what the dermatology and genetics team thought Julia had. It hadn’t been confirmed via blood tests yet, but that is what they were leaning towards.

Ok, now what? Sean and I must have looked like deer in the headlights. We were not expecting to receive all of that information from a dermatology appointment.  The attending physician was amazing in giving us as much information as she could and even told us she knew of a great dermatologist in Charleston who already had a patient with the same syndrome. The diagnosis was confirmed a couple of weeks later, and we were able to do our research and learn a little more about what the future may look like. Every case is different, and there are less than 500 reported cases world-wide. For the most part, everything we saw was it. There shouldn’t be any more surprises. There are a couple of things we will have to wait until she develops (for example hair and teeth), but there shouldn’t be any other big surprises.

We are grateful to have an answer, to have an idea of what the future holds, to be in a hospital that could provide answers and amazing care, and most importantly, to have a healthy baby girl. As we wrap up our time here in Boston (finally!), we know we will be back. We are already scheduling follow ups with urology, ophthalmology, and audiology for this Summer. We will also be scheduling follow ups with plastic surgery later this year. Our future will include quite a few visits to Boston each year with a few more surgeries that we know of, but we wouldn’t want it any other way. The team here has passed our expectations by leaps and bounds, and have won a special place in our hearts for taking such amazing care of Julia. Thank you all for continuing to keep our family in your thoughts and prayers. It truly does take a village. xoxo, Tori