Happy Valentine’s Day!
Today we went to Scott & White Hospital over in Temple, TX to meet their craniofacial team. This hospital is only about 30 minutes away so it wasn’t a bad drive at all, and there wasn’t any traffic either. I can say that S&W’s Craniofacial Center is very organized. Mostly due to the work of one woman, the Team Coordinator. This is the same person that scheduled our appointment for us and before we arrived today sent a packet of paperwork to fill out before our appointment; along with it was a “routing slip” which had Jameson’s itinerary of the doctor’s he would see and in which order he would see them. Shortly after we checked in we were called for our first appointment. As we left this appointment our Team Coordinator was waiting for us to introduce herself and escort us to the next doctor. There were a couple other families doing the same thing as we were so she bounced around the center throughout the day checking up on each family and each doctor to make sure everyone was on track and stayed on schedule. Normally you would think seeing seven doctor’s in one visit would take an entire day, but we were done by noon, just as promised. After being funneled through this little conveyer belt of doctor’s we left the hospital with a few pieces of new and promising information. A lot of it was repetitive, but I think the most important thing was actually meeting the doctor’s that could be caring for Jameson in these early stages.
Our first appointment of the day was with the plastic surgeon, and really, this was the most informative of them all. After we got through the formalities of discussing my pregnancy, Jameson’s birth and how Jameson’s health has been the last 5 weeks, he did a quick physical assessment of Jameson. One of the question’s I had in the back of head before this visit was whether the plastic surgeon would have seen enough syndromic craniosynostosis cases to be well versed enough for me to be confident that he could perform the surgeries needed with the best possible outcomes. But, I was pleasantly surprised. He immediately dove into discussion about Pfeiffer syndrome, other cases of syndromic craniosynostosis, Jameson’s features, what the road ahead (until about age 18) looked like, and the surgeries he would and would not do. It was reassuring that he knew the multiple types of surgeries that are done and that he won’t do the ones with high infection rates (one had 50% infection rate) and high mortality rates ( 20% mortality rate).
His assessment was that Jameson is a Type 1, mild Pfeiffer’s. He said that because Jameson only has the 2 coronal sutures fused he wouldn’t do surgery until about 12-15 months old, and he would only do immediate surgery if all of Jameson’s sutures were closed. He said the longer you can possibly wait to do this surgery the better – that the earlier the surgery is done the more likely the chances are that it will have to be redone in within a year and that because the other sutures aren’t fused the skull will compensate in those areas for the brain to grow. But, the ultimate determining factor in when exactly surgery is done will be based on Jameson. He would monitor Jameson’s progress every three months by measuring his head growth, checking for intracranial pressure, and his otherwise overall development. The next major concern is with Jameson’s airway – as I mentioned, Jameson has not had any issues with his airway or problems breathing. But, part of the syndrome is that the mid-face doesn’t grow at the same rate as the rest of the face. So, as he gets bigger his nose/upper airway will stay the same size. So, he is going to see if he can get us an in home oxygen monitor, and then when Jameson is a little older we’ll do a sleep study. But, he said inevitability at some point over the next 5 years Jameson will need some sort of breathing intervention. Which could be removing his tonsils ( I guess they have a tendency to become enlarged), inserting a trach, or doing a face extraction that pulls the mid-face forward to open the airway (which would be done at some point anyway). Overall though, he said that we can expect between 2-3 skull surgeries and the mid-face surgery over the course of Jameson’s life.
The next doctor we met was the speech pathologist. Honestly this appointment felt a little silly with him only being 5 weeks. He happened to be eating when we saw her, so she got to see him feed which was important, and then she checked to see if he has a cleft palate – which he doesn’t. That was it for this doctor, we just answered some quick questions about his development so far.
Next we saw Pediatrics. Nothing new to report about here. He got another once over and we were shuffled on to the geneticist.
The geneticist was interesting, and again reaffirmed that Jameson is a Type 1. The geneticist from San Antonio sent all of Jameson’s notes and lab work to S&W and they gave us a copy. When we got the results last week they were just over the phone, but today we got to see the lab work that came back from Tulsa – and it showed exactly where Jameson’s mutation occurred! There are two genes that have been associated with Pfieffer syndrome – and Jameson’s is on the FRFG2 gene found on chromosome 10, and the exact mutation is that where an A ( Adenine) should be there is a G (Guanine). I am excited that Jameson got a definitive diagnosis so we can better care for him, but I do love the science part of all this too (I have always been a bit nerdy 😉 ).
An interesting (and lucky) side-note to this appointment was that Frank and I were offered the genetic testing as well – but the doctor let us know today that as of the end of January our insurance doesn’t cover genetic testing anymore – the test that was done for Jameson was $2500, now they were testing 3 separate genes and ours would be gene specific, but would still cost us about $1000. This isn’t a huge issue because there is a fair amount of certainty (about 99.9% in our case) that Jameson’s mutation was a sporadic occurance.
Next we went to the dentist. Again, a silly visit at this point, but because teeth crowding is an issue with this syndrome, so it’s part of the team of doctor’s. But if anything were needed to be done it would be in Jameson’s teenage years.
The last two doctor’s were with audiology and ENT. Poor Jameson failed his hearing test again, lol. He got the same results he did here at this hospital; the machine was picking up some feedback from his ears but just not enough to pass the test. And then with the ENT doctor they told same thing as the plastic surgeon did – the limited growth of the mid-face affects the position and size of the ear canals. So, what would most likely happen would be that when Jameson has his skull surgery they would go ahead and insert tubes in his ears to help his hearing (ear infections have a high prevalence with Pfeiffer’s as well, so this would help with that too).
So that was our day – plastic surgery, speech, pediatrics, genetics, dentistry, audiology and ENT. Oh, and of course we went to photography for our last visit (I swear Jameson will be in a text book or teaching manual someday). At 12:00pm on Tuesday’s all the doctor’s and the team coordinator meet for the rest of the afternoon to discuss the care plan for the patients they saw that morning (so you see the importance of us staying on track to be done by noon!). We’ll get a follow up phone call/letter in about two weeks of their care plan for Jameson. The only specifics that were given to us today was that the plastic surgeon wants to schedule an MRI for his head and a follow up in 3 months.
Next week we are going to the Craniofacial Center up in Dallas. It will be another day of probably exactly the same, but it will be nice to have a comparison and walk away without feeling like ‘What if we had taken Jameson to this doctor instead…’