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

3 Replies to “Ok, now what?”

  1. Wow, amazing that you can share this with us. I read it with such interest and I felt your love and feelings.
    You and Sean have become so knowledgeable about all of this.
    Please know that I have followed this from before you gave birth to Julia.
    Your mom, Gigi, is a very special longtime friend of mine. My prayers are with your family. ❤️

  2. Dear Tori and Sean thank you so much for sharing this hold story and your journey. I am praying for you and Julia and thanking God for giving you both so much strength and love. We love you and are looking forward to meeting Julia someday soon. May God continue to bless your family. Tia Isis, Sandy and Lizzy

  3. My goodness Tori…..wow…..I’m in tears…..she’s beautiful and your beautiful and this story is beautiful and I pray for you and wish you the best, she is so lucky to have you and an amazing family. Hugs my friend and prayers, so many prayers!

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