Our Trip to Baltimore

Most of you who know me and my family know that the last few years have been quite a journey for our family! Our son, Avery, has many rare and complicated health issues that have been increasing in severity. So after having our doctors here in Dayton (who, I might add, are excellent physicians) tell us they were "puzzled," we were referred to specialists at Kennedy Kreiger Institute and Johns Hopkins University Hospital. The doctors there have amazing credentials, huge research budgets and research teams, and have exposure and experience with conditions that "normal" doctors just don't have. When our doctors first asked us how we felt about going there for help, we didn't hesitate to say yes. Yes, it was expensive and inconvenient, but we want to offer our child the best chance in life that we possibly can. So, it was with guarded optimism that we took just one more step in our journey to seek answers for Avery.

Avery's first appointment was with neurogenetics at KKI. We met with a doctor who is both a neurologist and a geneticist, a professor at Johns Hopkins, and is responsible for an impressive body of research. His colleague was also a neurologist with a Ph.D. pursuing another specialty in genetics. They were incredibly thorough going through every detail of Avery's medical history, which is quite extensive. They looked at nearly every inch of his body, making note of the shape of his head, length of his fingers, width of his pallet, and taking pictures of his hands, toes, and face. After three and a half hours spent scrutinizing him, they told me their observations and plan for the future. They wanted some additional records sent, specifically the disk of his brain MRI to look at the shape of his brain. They also are going to take some blood samples to look closely at some specific cellular changes. The doctor told me that he had some leads that he was wanting to pursue. He didn't give me any names or specifics so as not to put us on more of an emotional roller coaster, but he said he's going to look closely at the X chromosome and do some step testing, testing genes one at a time.

Avery's other appointment with with two oncologists that lasted around four hours. They said they heard of Avery about a year ago and had been looking forward to meeting him. They were surprised at how social he was because he was of course smiling and clapping. They agreed that many of Avery's symptoms were classic Diamond Blackfan Anemia; however, he also has other symptoms that are not typical of DBA. So, the next step is to identify if he has DBA plus something else, or if he has another larger issue all together. Our greatest concern recently has been Avery's platelet levels. Over the last year and a half, his platelet counts have dropped lower and lower. This is not typical of DBA. Avery's labs at JH revealed that his platelets dropped to their lowest point yet (24), but it seems like he's been setting a lot of record lows lately. The oncologists sent us home with a collection kit to be sent back after a bone marrow aspiration with specimens for them to study. We are going to schedule a bone marrow aspiration very soon to look for the oncologists' at JH biggest concern, MDS, also known as full bone-marrow failure. This is rare in kids, but since everything about Avery is rare, that isn't comforting. It's important to check for MDS and signs of leukemia, since DBA puts Avery at greater risk for both. If his test results reveal that this is the case, we will start talking about a bone marrow transplant. If not, then we're going to need to discuss a treatment for the thrombocytopenia (low platelets) as well as the anemia.

Another issue that came to light is that the doctors noticed a prominent heart murmur that they heard in the front and the back. The one doctor expressed concern that the blood vessels around Avery's heart may be too small. Ironically, when I was pregnant with him, I had two echocardiograms because the specialist I was seeing said there were some heart defects, including a major artery that was too small. We haven't pursued any cardiology testing since Avery's dismissal from the NICU, but that is probably going to happen in the near future.

One last issue we addressed was his nutrition. Avery's feeding is very poor, to say the least. We work very hard to get the proper calories in him, but as he gets older and the calorie need rises, this is going to become increasingly difficult. So, we're going to try to get some feedback from his doctors here and decide if we need to pursue an alternate feeding method like a tube. It's not ideal, but we feel that him getting the proper nutrition is too important to neglect.

Baltimore was a fascinating city, but we really didn't get to enjoy it. I'm so thankful for the opportunity to go there, though. Even though we didn't get any concrete diagnosis, it was encouraging to meet with doctors who have some new ideas and are going to continue researching and following his case. I think it was just one more step toward the answers that we've been trying to find. We're returning in September for follow-ups.