Florida State University Football & Elias!

This week Florida State University Head Football Coach Jimbo Fischer announced to the media that his youngest son, Ethan has Fanconi Anemia. Our thoughts and prayers are with them as we know how difficult learning of this diagnosis can be. We welcome them into the FAmily for love and support. It is a reminder that no matter how rare this disease is, it is still a small world.

Bone Marrow Biopsy Results

We heard back from the FA clinic at Children's with the final results of the bone marrow testing that was done last week while Elias was in the O.R. All the test have come back normal and within acceptable limits. That is the positive news. Elias' cellularity is low though at only about 20%. The doctors have commented that this is a relatively new focus for information and they have not determined exactly how to interpret these results completely with every patient. There is a bit of a learning curve with variables impacting the interpretations. Those numbers are something they see in someone with much lower counts, so watching Elias, who's counts are fairly normal and stable is making this more of an "interesting find." They will be watching this closely. Elias' platelets have dropped overall, but still well above a level of concern. They have been trending up and down since November when the dropped to 85k after the failed colostomy reversal surgery. They had risen back to his baseline of 215k but the past several months they have declined and are holding steady at 150k. For reference when he gets to 50k is when the radar gradually starts to tick for bone marrow transplant. No one is concerned too much with the new lower baseline. A decline is expected and this is likely the natural course. One thing that is possible, but not proven is that with the lower cellularity the numbers could plummet vs gradually decline, but that is something they have yet to establish. They admittedly are not use to seeing patients with numbers as good as Elias. That is the beauty of rare disease and treating patients with so many variables. We are fortunate enough to have such dedicated doctors that will account for any and all possibilities. This provides all the other issues the time we need to get Elias as strong as possible with all the other affected systems to give him his best chance during transplant. Overall these results were what they expected and they are pleased. Elias continues to thrive developmentally and we are taking the time to appreciate all he is achieving. Here is a video we posted last night showing how happy he is and how much fun he has when he is feeling great! You can't help but smile when you watch this.

The Day After

Elias had another trip to the OR yesterday. This was all the standard follow-up procedures he has from time to time. He did very well during the 6 procedures that lasted around 2 1/2 hours. He woke up from anesthesia in typical fashion with a baseline of lower than normal O2 sats, but he quickly pulled them up by the end of the night. All the doctors were please with what they saw, at least those that could report.

Pulmonary & ENT are happy with Elias airway, that is in Elias standards. There is evidence of slight improvement in the compression, but nothing to get overly excited about. However, with Elias and his airway the smallest of victories is welcomed. Growth still is going to be his best ally towards achieving much improvement. That is something he has struggled with so that will not likely be helping anytime soon. Overall they said given Elias history they would accept this as the most positive overall bronchoscopy & ML&B they have performed. GI scoped him all the way to the small intestines and found no evidence of any fungal infections (which was a concern with all the antibiotics he has been on) or any thing out of the ordinary - again for Elias standards. The TEF repair site continues to look great and the stricture was not in need of dilation. His Nissen looks good as does his G-tube placement. The small intestines were a little tight, but that was expected with the failed colostomy take down and herniation of his bowel. We did not get to speak with Urology so we have nothing to report as of yet and it will be a week or two before we get results from his bone marrow biopsy & aspirate. He has been doing well today, a little tired from lack of nutrition yesterday, but overall his typical playful and happy self. We will update soon when we begin to have results come in from the testing.