On top of the Cardiologist and Gastroenterologist, we've seen many other doctors to try and get some idea or diagnosis for what is going on with Eli. In January 2011, we started to notice that Eli was having little spells of what I called mini-seizures. He would be alert, talking, moving around.... but his lips were blue and ice cold. His hands and ears would also be freezing. Occasionally, his eyes would fix and his body would tremor. For this, we were sent to a local neurologist. (There is much more to this story, which I will explain in a later blog.) The neurologist ordered an EEG. During the EEG, they used a strobe light. During this time, Eli's eyes began to shake and roll back some. And then he fell asleep. The person doing the EEG didn't seem to notice.... he was a little too busy telling Adam about all of his plumbing, heating and A/C problems at his house.... So he didn't make a note of it on the report. We went to the neurologist the day before Eli had his feeding tube put in; March 22, 2011. The neurologist met with us for under 30 minutes, watched Eli for a bit, then "kindly" (and I say that VERY sarcastically) told us that there was nothing wrong with Eli, but everything that was wrong with him was my fault and I wasn't doing enough to help him. He also said that nothing came back on the EEG report and he basically didn't believe what I told him about Eli's eyes. Not a very positive interaction, to say the least....
During all of this, with the episodes of Eli's lips turning blue and cold, we had also paid another visit to the cardiologist. He put Eli on a heart monitor for 30 days. We were instructed to press a button every time that we noticed Eli's lips were cold and blue or his hands and ears were cold. Sometimes this only happened once or twice a day, if it happened at all.... other days, we were pressing the button 50+ times a day. After Eli was taken off the heart monitor, the cardiologist reported that it was not an issue with his heart... What a relief!!! On March 23, 2001, Eli had his feeding tube put in. Since then, he has had no more episodes of his lips turning blue or cold! =)
During the summer of 2011, our pediatrician referred us to an allergist/immunologist. He ran the normal tests and did the back-scratch test. No surprise, Eli is allergic to basically everything environmental. We were already doing Pulmicort and Albuterol breathing treatments, so we were instructed to add in allergy medicine.
We were also referred to a Geneticist at TTUHSC. We saw him in June 2011 and completed all the lab work. This doctor was AMAZING! He spent over an hour talking to me, answering all my questions and observing Eli. When we first met with him, it was obvious that he had reviewed Eli's medical records and knew what he was talking about. Eli's therapists and pediatrician had questioned Autism. However, we really fought against that diagnosis at first. When we met with the Geneticist, he was able to explain to me what he was seeing in Eli. He had a lot of sensory-seeking behaviors; like his body was craving something sensory-related. Eli ran aimlessly around the exam room, then jumped up in my lap, grabbed my hair and stuck it in his ear, then almost immediately seemed calmer that what he was just seconds prior. He also described the OCD-like tendencies/rituals that Eli had developed as far as eating was concerned. He also talked about Eli's tendency to group things by like color, shape, size, etc... like it HAD to be in order. After this discussion, it finally seemed to click with us and the Geneticist diagnosed Eli with Pervasive Developmental Disorder (PDD) with Autistic features.
With the lab work the Geneticist ordered, we were both expecting it to show that Eli had a genetic disorder called Di George Syndrome or 22q-deletion syndrome. All the symptoms fit and we were just sure this is what it would be. Unfortunately the lab work had to be sent to a lab in California and I was informed to be prepared to wait 6-8 weeks for results. So, in August 2011, 2 months later, I received a phone call. Fully expecting it to be a nurse or receptionist, I was very surprised that it was actually the Geneticist on the other end of the line. He said, "Well, I'm really surprised that it's not 22q. That's what I expected. But it's not. Eli has something called Klinefelter's Syndrome." He then told us he was referring us to an Endocrinologist.
In the meantime, we began seeing a new Neurologist in San Antonio. Luckily, my wonderful cousin Andrea is a nurse at Heartland Children's Home in San Antonio and she was able to refer us to the Neurologist they use. And he was WONDERFUL, especially compared to the neurologist we had seen locally! He reminded me of the Geneticist; well-informed, very knowledgeable about Eli and very patient with us and all our questions! He was able to confirm the Geneticist's diagnosis of PDD. He also told us to monitor Eli's progress. If we weren't seeing progress in 6 months to come back; he was slightly concerned that Eli may have a brain tumor.
We recently returned to San Antonio to have an MRI done on Eli's brain. We were very pleased to find out that Eli did not have a brain tumor!!
Back-track a few months to September 2011.... We were able to see the Endocrinologist at TTUHSC. She confirmed the diagnosis of Klinefelter's Syndrome and was able to explain his some. Basically, Eli will most likely not produce any testosterone and will likely be infertile. Boys with this are also known as very passive, non-aggressive kids... they don't produce testosterone, so aggression simply isn't there! As adults, most are know to have major mood swings (without the hormone testosterone, monitoring and controlling their moods is very difficult) and usually really struggle in math and science. She also explained that it was very rare that we found out about this diagnosis so early. Usually, it is not discovered until they become adolescents and don't really hit puberty, or until they are adult men and are not able to have children with their significant other. So, her instructions were to wait 8-10 years, then come back to see her and she would monitor him for another year or 2, then start him on testosterone supplements.
Eli has also aged out of being able to receive services through ECI. He has begun seeing a Speech Language Pathologist at South Plains Rehab. She is really great with Eli and has been working with him on his sensory issues. Once we are able to get these things worked out, she will begin to work with him on his feeding!
Slowly, but surely we are beginning to get answers and make progress. Adam and I are really looking forward to seeing Eli grow and develop and begin doing all the "normal" little boy things! We can't wait until the day he says, "I want chicken nuggets!" and actually eats them! =)
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