We went to the pediatrician for her 1 month appointment on October 17. She is gaining weight- I forget what she was at this appointment. The nurse practitioner that we saw said she looked great. Our regular pediatrician also came in and took a quick look at her. This was a pretty uneventful appointment.
On October 22, we went to the geneticist. He looked Julia over and we discussed Beckwith-Wiedeman Syndrome (BWS). They took a full family history and asked us lots of questions. He gave Julia the clinical diagnosis of having Beckwith-Wiedemann. The first genetic test (the microarray done in the hospital) came back normal which means she doesn't have a genetic form of BWS, however, there are multiple ways to diagnose BWS. He requested to have blood-work done for another genetic test. The clinical diagnosis is based off of physical characteristics, of which Julia has quite a few. She had the umbilical hernia at birth, has a large tongue, had low blood sugar levels as a newborn, has creases on her ears, has stork bites (red marks above her nose and somewhat on her eye lid), and large size. BWS doesn't have major issues itself, but children with BWS are at a greater risk of developing tumors and childhood cancers. Because of this, Julia will have regular bloodwork and ultrasounds done to monitor for tumors. Two types of tumors make up the majority of the childhood cancers, one is Wilm's tumor which is located on the kidneys and the other is hepatoblastoma, which is on the liver. From what we have been told and researched, these are both fast growing, but very treatable if diagnosed early, which is why she will be regularly monitored. She will have ultrasounds and bloodwork done every 3 months. The risk of the tumors decreases significantly as she grows up, so much so that they stop doing the ultrasounds and bloodwork between 8-10 years. We also discussed the possibility of a tongue reduction and got a referral to a doctor to discuss that. After this appointment was over, we headed to the lab and Julia got her first blood draw to test AFP (Alpha-Fetoprotein- this number becomes elevated if a tumor is present). She was not a fan of the blood draw and neither was I, but she did well and we were home shortly after that.
Her AFP level came back and it was higher than normal for a 1-month old without BWS, but was within the normal range for 1-month olds with BWS. I just talked with the geneticist today and Julia will be getting another blood draw within the next 2 weeks to make sure the levels are decreasing. She is also scheduled for an ultrasound on November 9th to check her liver and kidneys.
On October 23, we went to the pediatrician because there was 2 puss-filled areas near her surgery site. They drained one of them and took a sample for a culture (again, Julia did not like getting poked). She was put on an antibiotic and we were sent home. We went back again on October 25 to recheck and find out the results of the culture. The culture came back positive for a staph infection, but luckily it was a strain that responds to the antibiotic she was already on. She has been on the antibiotic for a week and we have also been putting neosporin on the site and it looks great now. She was 11 pounds, 4 ounces at this appointment.
We were scheduled to meet with the speech and language pathologist (SLP) tomorrow (October 31), but had to reschedule due to some other doctor appointments for myself. We haven't rescheduled that one yet.
November 7th- We go back to Dr. Browne (the surgeon) for a follow-up. I'm pretty confident he will be happy with how everything is looking.
November 9th- She will have an ultrasound and bloodwork.
November 12th- We go to St. Louis to meet Dr. Marsh about a possible tongue reduction. This is a bit of an overwhelming appointment, but we are happy we are in a location where we can go to this doctor. He is well-known for doing tongue reductions and has great successes with them. He prefers to do the tongue reductions prior to 9 months for a variety of reasons (teeth placement, jaw issues, speech issues, and emotional issues). I don't want to put her through another surgery, but am confident he will advise us as to what is best. We have done some reading on him and Dr. Beckwith said if he had a grandchild with BWS, he would trust what Dr. Marsh recommended so I feel like that is a pretty good reason to trust him.
November 17th- Julia has her 2 month appointment.
January- a follow-up with the geneticist.
Although this seems long, this is a brief update on Julia's medical life.
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