It’s In His Genes

Ever since I can remember, Asher has had a small lump on his back. Every doctor we’ve seen has been asked by me to take a look at it. They all said that it was a fatty deposit. They all said that as long as it didn’t get bigger, there was nothing to worry about. I, seriously, asked about it at every sick visit and checkup appointment. The lump isn’t hard. It moves a little as you run your fingers around it. Well, he has another one in the bend of his leg. We asked about it and his pediatrician thought it would be a good idea to see a geneticist. Why a geneticist? Some genetic disorders can cause these lipomas. We were referred to Le Bonheur for the test. I knew that Autism showed up through genetic testing and we might get some answers. The test can show if Asher would be prone to anything in the future by looking at his genes. I wouldn’t say I was excited about this. I think I was curious/nervous to know if there was anything.

Randy and I took Asher to Memphis. I felt really emotional as we pulled into the parking garage at Le Bonheur. Sick kids go to Le Bonhuer. Asher was excited. He was holding our hands and jumping and squealing. He wasn’t sick.

A resident came into the room and after answering a million questions about Asher’s birth, development, nutrition, medications, therapies, and family history, we were ready to see the geneticist. Dr. Joel Mroczkowski enters the room. He was just what you would think a geneticist would look like. He was very professional and oddly smart. He checked Asher head to toe and walked into the hallway to speak with the resident. They were whispering. I’ll never forget it. Randy looks at me and says, “What the hell are they talking about?” They were in the hall for about 30 seconds.

Dr. Joel comes back into the room with his iPad. He tells us that he knows what Asher has. Huh? What he HAS?? Um, he is Autistic and has some fatty deposits. How could he know anything more? He hadn’t even had blood taken. He tells us that he is pretty sure Asher has Bannayan Riley-Ruvalcaba Syndrome (BRRS). The charactersistics of BRRS are an exact description of Asher- large head size, developmental delays, flexibility, lipomas, annnnndddd freckles on his penis. I mean, what?? I know he has freckles on his penis. He has a larger darker spot, too. I thought it was a birthmark. Anyway, he tells us that we will have to continue with the test to make certain. He then documented every person on both sides of Asher’s family and gave us some paperwork on the subject. If Asher’s tests concurred what the doctor suspected, there would be little change in what we were already doing with him. He would continue with the same therapy. The only difference would be that he would have to go to St. Jude for cancer screenings of the lipomas. He would be developing more and we have to make sure they were all benign.

Standing at the elevator waiting to get on, it hit me. I don’t know what hit me. I think I was just overwhelmed.  On top of wrapping my head around Autism, he now has a syndrome, and cancer screenings. I have always felt like if we found the perfect combination of therapy, meds, and nutrition, Asher would have a major breakthrough. To know that it is actually in his genes made a difference to me. I’m bawling. I can’t look at Asher. He has no idea. He’s just happy.

We waited for the insurance to decide if they wanted to pay for the test. After getting the OK, we went back to Le Bonheur and had the blood test done. Then we waited for the results. I received a call from Dr. Joel. Asher, in fact, does have BRRS. There is a mutation of the PTEN gene. He said that it is a brand new mutation and my other boys won’t have to be tested. He also told me that many parents don’t know what causes their child’s Autism. We know. It’s the mutation of this gene. Asher can still make strides in his development. So, as much as I want to crawl in a hole, we are moving forward.

 After several weeks, we told the boys. We didn’t want them to hear “St. Jude” and be worried. I felt like we were keeping a secret. They were all ok with it. I know Knox will have questions later. He always does. I’m trying to be nonchalant about it, but as his momma, it’s upsetting.

We just received our paperwork from St. Jude in the mail. Our appointment is June 24. We pray for an easy visit. We pray for our anxiety. We pray for good results.

I know this baby will be nothing but happy through all of this. He always is.