- CASE FILE
My 11 year old son has two rare illnesses that we know of, but we are missing something. His health keeps getting worse and we need help.
ABOUT THIS CASE FILE
Connor started getting sick at the age of 3 and at first it was just horrible migraines that would last for days and days. Then the nose bleeds started and the stomach pains, and slowly we started to see changes in his behavior. However, it all came to a head on Easter Sunday of 2012 about 7 months after the first symptoms had started. We were at my parent’s house and my husband was fixing his hair as we were getting ready to leave for church. The next thing I could hear is Matt yelling, "Connor, Connor" and I walked into the hallway and Connor had passed out. So, I grabbed him and laid him in the hall on the floor and started yelling for my sister. It took about 20 seconds and Connor started to open his eyes and started to come back around, but his eyes were super glassy, he was pale and sweaty. He couldn't remember anything that happened, and his stomach was hurting really bad. We knew that something wasn't right with him, this was more than just the headaches.
We took him into the doctor, and they did a CT Scan to make sure he didn't have a brain bleed going on or a tumor. Which thankfully he did not. But that started our long journey of trying to find answers for what was going on with him. We didn't get anywhere with our pediatrician and the first Neurologist that we saw at ACH told us that he was having Confusional Migraines, and something called CVS (Abdominal Migraines), which we had never heard of before. They kept trying to see if he was having seizures without capturing anything. Finally, I had enough of nothing being done because he was getting worse. I choose to take him to Boston Children's Hospital hoping they would be able to figure something out. So, in 2015 the week of Christmas we were scheduled to be seen. Matt, Connor and I go off to Boston. When we got there within five minutes of meeting Connor the Neurologist wanted to tell us he was Autistic. I very politely told her he was not. Because that is not something that just starts at 3 or 4 years old. He was not delayed in any of his fine motor skills or anything like that, but she didn't want to listen. So, we went home with no answers.
When we got home, we started to try and figure stuff out again, and a friend of ours suggest we take him to Dr. Torin Gray in Little Rock. We got Connor into him and he started to just run test that no one had thought about. He did a Lyme test and he also looked at something called his ASO level (Strep level). Connor did not have an active step infection, but his ASO was high. At that point Connor was diagnosed with something called PANDAS. Which we had never heard of, but he fit a lot of the symptoms. We started treatment for that which was antibiotics to get his strep level down.
At the same time, the school he was in which was a private Baptist school wanted us to test him for ADD and ADHD, so we did. He did not test positive for either of those. We did start him in OT, Speech and PT, which he qualified for the max amount of time in each of those areas. However, with all this Connor still was getting worse and we couldn't figure out why. Connor ended up in the hospital due to a stomach bug where he was running a very high fever, and while he was there, he was super confused, and they admitted him after he received an MRI. They got a 24-hour EEG on him where they finally were able to capture a seizure in his Right Frontal Temporal Lobe. This part of the brain has to do with memory, behavior and other key functions that Connor was having issues with. It was a big piece of the puzzle we had been looking for, but just not all of it.
We went another 3 years with him on a roller coaster of ups and downs. I had been researching specialists for him to go see. Money was tight because a lot of his stuff we have to pay for because insurance doesn't cover. I finally found the doctor that I wanted him to go see and that was Dr. Rosario Triffilleti in New Jersey. Of course, just like everything else he doesn't take insurance we paid out of pocket. So, we drove to New Jersey and saw him in 2018 and we went over all of Connor's medical history. He felt that there was more going on with him than just the PANDAS issue; which, is what we had always felt like as well. I had always felt like we were missing something. So, thankfully he just started doing every test he could think of on Connor and I praise God that he did.
He called about two weeks later and told us the results and I was floored! He told us that he had no idea how Connor's body has been functioning. His body was so deficient in B12, he had almost no White Blood Cells to speak of and his Immunglobulins were all very deficient as well. He also was testing positive for 4 different viral infections at the time. Then he said, that he also found something quite interesting and it was that his Methylmelonic Acid was high. I had never even heard of that before that phone call, but I have never been able to forget it since.
So, with that phone call Connor was diagnosed with CVID (Common Variable Immune Deficiency), which I hate that name because it isn't very common. Only 1:100,000 people are diagnosed with this illness. He gets infusions every four weeks of something called IVIG to help give his body a little protection against viruses and bacteria that might make him sick. We are also super careful with him and where we take him. And then he was diagnosed the one seems to be giving us the most trouble because no one knows anything about it here at ACH. Methylmalonic Acidemia which again is super rare and about 1:100,000 people are diagnosed with it. This has to do with his body not being about to process certain fats and proteins. What complicate things is that with this being a recessive genetic mutation that has to do with the Kreb Cycle, it was also found out that Connor is also MTHFR positive too. Which means that he doesn't process Folate which is the second process of the Kreb Cycle. We do give him a supplement for that though. His body isn't making B12 like it is supposed to for some reason and it isn't absorbing any supplements but one kind. The only one that we have found that his body will absorb is something called Hydroxycobalamin. He gets a shot (1ML) once a day of this to help try and keep his MMA levels down. This hasn't been helping lately for some reason.
But we still feel like we are missing something with Connor. He isn't getting better and his body is breaking itself down and he is still getting foggy headed often.