St. Louis, Day 2

Ahh… what a day! Much like yesterday, this post will be a bit of a snoozer. Here’s the highlights:

Havyn did great meeting more doctors today… Dr. Gutmann was super amazing… We found out she needs a different brace for her scoliosis and will get that in the next couple weeks… Our plan is to keep visiting the team in St. Louis every three months… Oh, and we went to Ikea and a baseball game. The end.

If you desire feel free to read the details…

Our morning started off a bit more slowly today. Our first appointment wasn’t until 11am so it was nice to enjoy breakfast a relax for a bit. Havyn got to sleep in – which she really needed. We arrived at the orthopedist’s office, got our paperwork turned in, and the waiting game began. The receptionist told us that the nurse practitioner we were scheduled to see thought we should see Dr. Gupta instead of her. He specializes in bone deformities so she got us in with him. But that switch seemed to cause some delays. A few minutes turned into an hour and we started growing concerned that we wouldn’t get done in time for our appointment with Dr. Gutmann, the lead NF-1 doctor. But eventually Havyn’s name was called.

Dr. Gupta looked her over and confirmed her scoliosis diagnosis. The biggest news is that he doesn’t think the brace she’s been wearing is going to be very effective. The type of brace she has is used to hold a person in place and not necessarily provide correction. He brought in the orthotist to look at her and they decided she needs a different form of brace. The kind they recommended is actually made from a plaster mold of her body. Because of the timing of the meeting with Dr. Gutmann we decided to come back later in the day for the casting.

Before we left that office, Havyn had her leg bones xrayed. We don’t expect to see anything unusual, but bowing of the tibia and fibula are common problems with NF-1. We just want to confirm that nothing is going on there.

Then we went to see Dr. Gutmann. Tammy described the feeling almost like walking into a blind date. We’ve heard so much about him, and spoke with him on the phone, but have never actually met him. It was a bit surreal walking down the hall toward a large sign that said “NF Center.” An entire practice dedicated solely to NF. It felt a bit like walking home for the first time.

We first met with one of the doctors from the team. She asked us a lot of questions about Havyn’s history and symptoms. She then left the room for a few minutes to download the information to Dr. Gutmann. They came back in together. Dr. Gutmann’s first words to us were, “You wore the right shirt.” I (Steve) was wearing a Univ. of Michigan shirt (Go Blue!). Dr. Gutmann is a Michigan grad so we we consider him a victor (valiant) indeed.

We talked about a LOT of stuff with Dr. Gutmann. The following is in no particular order because at this moment I can’t keep everything straight.

1. The primary concern right now is stopping the vision loss. He agrees that the chemo is the right thing to be doing.
2. He was a bit surprised we didn’t meet with Dr. Luhmann in orthopedics. You may recall his name from yesterday. He apparently sees practically all of Dr. Gutmann’s patients for bone concerns.
3. He had concern about ADHD and possibly autism as well. We completed a couple evaluations totaling about 200 questions. Afterward we discussed the very real possibility that she has clinical ADHD. This is very common for kids with NF-1. He told us that down the road we will probably want to talk about treatment but that it’s not the priority right now. There is no doubt in our minds that Havyn has attention issues. Trying to figure out how much of that is the fact she’s three, how much is inherited from her Nana Wheeler, and how much is NF related will be interesting. Autism does not seem to be a concern at this point.
4. He is not sure what her spinal lesion is either. He would lean toward it being a tumor, most likely an astrocytoma, but he said it really doesn’t matter what it is at this point. We’ll just continue to watch it and make sure it’s not growing or causing problems.
5. He alleviated some concerns about a rare form of leukemia. Havyn has some dermatological spots called juvenile xanthogranulomas (JXGs) on her face. We had been informed that kids who have both NF1 and JXGs have a 10-fold increase of getting a rare and usually deadly leukemia called JMML. (Can you keep all of these initials straight?) So one thing we’ve been doing for quite some time is routine screenings for JMML. Dr. Gutmann believes this issue to be a case of the internet blowing things out of proportion. There’s apparently one study about this link between NF1 and JXG, and he is not at all concerned. Even if the 10-fold risk is accurate, she is still far less likely to develop JMML that any other child is to develop any form of leukemia.
6. We talked about genetic testing. While we don’t need it to confirm she has NF-1 (the symptoms tell us that), genetic testing can tell us where the mutation is on the NF1 gene. From what we understand there are more than a thousand different types of mutations and they are starting to find some correlation with the specific symptoms with certain mutations. NF1 has always been a wait-and-see game, but down the road, genetic testing may be a predictor of what lies ahead.
7. He reminded us that our main job is to be the best parents to Havyn we can be. His main job is to be the best doctor to Havyn he can be. He encouraged us to leave the medical stuff to him and for us to focus on loving and raising our girl. He advised us to treat her like the beautiful, normal child she is. “She’s not an NF kid. She’s Havyn.” Don’t label her and raise her in a way that she’d always feel defined by her genetics and prone to “play the sick card.”
8. His recommendation is for us to continue chemo treatments in Louisville but to let him and his team manage her care moving forward.

And we’ve decided we’d like to do just that… That means we’ll be venturing to St. Louis at least quarterly. Sometimes we’ll see all of the doctors – just like this trip – and sometimes it will mean just touching base with a couple. We’ll begin getting her MRIs performed in St. Louis as well. This is a tricky choice and a big commitment, but we know it’s the right thing to do. We’ve been in love with the care we’ve received from the physicians at Norton and UofL back home. Louisville truly is blessed to have such great facilities and experts. That said, we feel so fortunate to live within driving distance of a world-renowned NF Center. NF1 is genetic – it’s in Havyn’s DNA. There is no pill to take or treatment that will make it go away. Short of God’s intervention, she will have this her entire life. As long as we’re able, we would like to have these folks involved in her care.

After we left the NF Center, we went back to the orthotist to have her fit for her new brace. Havyn got to wear a special dress and then Dave the orthotics guy starting casting her. She did surprisingly well despite some initial protests. She got to pick out a print to go on the brace and a color for the straps. Pending insurance approval, it will be finished in 1-2 weeks. Since she needs to be seen in it and it has to be altered and trimmed, it looks like we’ll be making a return trip very soon.

After a very long day at the hospital we made our way to Ikea. We were all super-hungry since there had been no time for lunch. We had to get some swedish meatballs and then we took time to peruse the store. We found plenty of things that we just couldn’t live without.

After that we had the privilege of watching a St. Louis Cardinals game! The HavenHouse (where we’re staying) had some available that I think had been donated. Havyn didn’t like the fireworks after the home run, but the rest of the people at the stadium seemed to like them just fine.

It’s been a whirlwind of a trip but we sure are grateful to have made the visit. Tomorrow it’s back to the madness at home which we have been missing pretty badly.

Unless there are any changes, we probably won’t post again until next week. On Tuesday, Havyn will get the final chemo treatment of her induction round. That means that the weekly chemo will be over and the next nine months will be slightly easier: 4 weeks on, 2 weeks off.

Okay… that’s all for now. Enjoy a few photos from our day today!

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