It was a busy day! My parents woke me up at 15 to 6 this morning. They had already packed up the car and it was time to hit the road to get to an 8:30 appointment at Stanford. I was a good girl most of the way - but about 1/2 hour before we arrived I started getting fussy. After about 15 minutes I cried myself to sleep and got a short nap.
The Craniofacial Anomalies Clinic provides for comprehensive diagnostic evaluation and treatment for children with craniofacial anomalies like me. As craniofacial anomalies often result in complications on many levels having multiple specialties involved in my care ensures I get what I need. Here are the specialties that can be involved:
Oral and maxillofacial surgery
My parents were most interested in meeting with the ENT, since they will be in charge of how and when I am decannulated. The ENT was the second specialist I saw today. She was very nice and answered a lot of my parents questions. They also spoke with audiology, genetics, plasticy surgery, speech therapy, dentistry and orthodontics. Here is some of what they found out:
1. The ENT wants me to have both of my hand surgeries and my cleft palate repaired before decannulation since anesthesia is much safer while I have my trach. ENT's don't like to decannulate until summer. They will have me come back in February (hopefully surgeries will be completed by then). At that time they will evaluate what tests they will need to do to look at decannulation. The first will be a scope of my airway to make sure I don't have any other issues like granulation or scarring from intubation.
2. To encourage me to practice breathing through my nose and mouth the ENT wants my parents to increase the length of time I am wearing my speaking valve until it is during all waking hours. Then, they want me to use a valve with only one hole drilled in it and eventually a valve with no holes. This will also encourage me to vocalize more and learn how to swallow my secretions better.
3. The geneticists have ordered a more comprehensive chromosome test. One was completed while I was in the NICU but it didn't find anything. This test may not either, but it looks more closely at my chromosomes. If it does find something with my chromosomes - then my parents could have testing done to look at the chromosome on any future babies they have while in utero to see if that baby has the same problems. Since I am such a hard stick, they will plan on having the lab take my blood for testing while I am inpatient for my cleft palate repair in September.
4. The geneticists took pictures of my face, my hands and my feet. They are going to bring to their next genetic panel to share with all other geneticists that didn't get to see me today. They want to discuss my case to see if everyone is in agreement that my diagnosis is Nager's. Most of my clinical symptoms are right on target with Nager's but some are not as common (like my aortic valve disease).
5. The orthodontist and dentist looked at my teeth because my parents had concerns that they looked yellow. The orthodontist suspects that my Mommy may have had a high fever at a point in the pregnancy that the enamel was being formed and that is what is causing the discoloration. Mommy did have a really bad cold (with fever) at 12-13 weeks along - so that may be it. The orthodontist said that if that is the cause, the rest of my baby teeth shouldn't have the same problem and my adult teeth will be fine. My parents will keep an eye on it for now.
That's probably the most important things that came out of the panel appointment today. I was such a good girl for the entire time (4 hours!!!). Everyone commented on how cute and good natured I am. After making the follow up appointment for ENT in February, it was back in the car for the long ride home. Within a few minutes I was zonked - and slept pretty much the whole two hours home. After being in the car so long, when we got home I was ready to zoom around in my walker and play with toys for the rest of the evening.
Peyton Nicole Smith