Getting Caught Up to Today
Ian started a new school the fall of 2009, he was walking fair, not wonderful. I had informed his teacher and therapists of his summer illness. Within the first few weeks, his teacher and physical therapist began counting how many times he was falling in a day…he was averaging 10 times a day. This became a safety issue for him. So they approached Brian and I regarding Ian starting to use a walker. It was not something we were thrilled with but we needed to give it a try. Ian did wonderful with the walker, “Wally”. Yes, Ian named it. He was speed racer with it, got around great. We even purchased one for home. Ian was doing well in school, seemed to be doing well over all. Then comes December 2009, Ian had another episode. We did not end up in the hospital this time, all of his symptoms were the same. We did go to the ER per his pediatrician. There was nothing they were able to do but the pediatrician wanted to make sure there was nothing else going on. Since Ian had a second episode it confirmed for Brian and I that this was not a viral infection over the summer. We knew there was something else going on with Ian and, for those of you who know me…I was going to figure it out. My gut told me the diagnosis of a viral infection was not correct in July but unless it happened again there was nothing we could do since all the tests Ian had ever had done during his life were normal.
I am extremely fortunate to have a cousin, Dr. Kaplan, who is a pediatric geneticist…she has know Ian since he was born. She was one of the few who were able to visit him in the NICU at University of Maryland. I had never turned to her before but in December with the second episode I decided it was time for a new pair of eyes, just to see…she came over on a Sunday to take a look at my huge white binder of medical records I have collected over the years. Julie (Dr. Kaplan) contact her associate, Dr. Carol Greene, from University of Maryland, went over some things with her…the next day Ian, my mother and I, went down to meet Julie at the lab at University of Maryland. Dr. Greene drew some blood, Ian gave a urine sample, all I knew at the point was whatever she was looking for was rare, I did not want to know more then that, not if they were good or bad. Knowing myself, I would be all over the Internet searching for everything and anything, not always a good thing.
Approximately 2 weeks later, Julie called one night. Most of the results were in, the biggest one being the prolactin level, Ian’s was abnormal. Everything else was normal, having an abnormal prolactin level was wonderful but scared news…Brian and I did not know what it meant or where it would lead us but it was the first test in 7 years to come back abnormal. Finally, we may get some answers. Julie proceeded to explain to us, this could be due to a dopamine deficiency or another form of a neurotransmitter deficiency. Getting these results back could not have come at a better time; Ian had an appointment with Dr. Gerald Raymond, his neuro-geneticist, the next day. I gave Julie all of his information so she could be in touch with him before our appointment the next day. Seeing Dr. Raymond, lead to more blood and urine tests. The blood was to check Ian’s prolactin level when he was not having an episode. The urine was the next test to be done for neurotransmitter diseases, this test needed to be shipped to a lab in Atlanta. Ian’s prolactin level came back elevated however not as elevated as when it was done the first time. Unfortunately his urine test came back normal. This did not mean there was not a neurotransmitter disease, it just meant we had more tests to undergo.
The next test to be conducted…a spinal tap and MRI. This was not a fun day for any of us…first thing in the morning we needed to be at Johns Hopkins Hospital for Ian to have a picture taken of his head. That is all we told him he was having done, there was no need to tell him about the spinal tap. We knew when we left that the MRI was normal. The spinal tap had to be shipped away to Atlanta. There are not many labs which can conduct the tests which need to be done for pediatric neurotransmitter diseases. The one we have been using is run by Dr. Keith Hyland. Everything must be done a specific way in order for the tests to be run. We are now into March, Dr. Raymond called with the results, it was suspected that Ian had Tyrosine Hydroxylase (TH) deficiency. Based on this, Dr. Raymond stated Ian on Sinemet. We went through some rough weeks working through Ian’s adjustment to the medicine. In addition, based on the spinal tap results, Ian had more blood drawn, this again was sent to the lab in Atlanta in order for to confirm the suspected diagnosis. This needed to be done through a gene analysis which took five months to conduct. We are now into the summer, July actually when we find out that Ian does NOT have TH. This was a shock to us, we thought we had our answer. What we did know, Ian does have a neurotransmitter disease in the dopamine pathway.
Some where between Ian having the spinal tap and him starting on Sinemet; Ian became 100% dependent care. He was no longer walking, unable to hold his balance to use the bathroom or stand in the shower. Had trouble feeding himself. We were watching our sweet boy fade away with all of his motor skills. The one thing Ian did not lose during this whole process was his cognitive abilities, he knew what was going on...that was also hard. Watching him try to do something and then start to yell at his legs because they would not work...he knew he was able to do things before that he was not able to do anymore. How do you help your child? We just kept our spirits up as best as we could, especially around Ian and Becca. We were going to find out what was going on regardless of how long or what it took.
So we knew we were not looking at one of the pathways containing tyrosine. Dr. Raymond was not shocked regarding this result. He was not convinced based on some of Ian’s characteristics Ian had TH. He felt based on some of his characteristics he could have Sepiapterin Reductase (SR) deficiency. We are now 6 weeks into the gene testing for SR.
I am extremely fortunate to have a cousin, Dr. Kaplan, who is a pediatric geneticist…she has know Ian since he was born. She was one of the few who were able to visit him in the NICU at University of Maryland. I had never turned to her before but in December with the second episode I decided it was time for a new pair of eyes, just to see…she came over on a Sunday to take a look at my huge white binder of medical records I have collected over the years. Julie (Dr. Kaplan) contact her associate, Dr. Carol Greene, from University of Maryland, went over some things with her…the next day Ian, my mother and I, went down to meet Julie at the lab at University of Maryland. Dr. Greene drew some blood, Ian gave a urine sample, all I knew at the point was whatever she was looking for was rare, I did not want to know more then that, not if they were good or bad. Knowing myself, I would be all over the Internet searching for everything and anything, not always a good thing.
Approximately 2 weeks later, Julie called one night. Most of the results were in, the biggest one being the prolactin level, Ian’s was abnormal. Everything else was normal, having an abnormal prolactin level was wonderful but scared news…Brian and I did not know what it meant or where it would lead us but it was the first test in 7 years to come back abnormal. Finally, we may get some answers. Julie proceeded to explain to us, this could be due to a dopamine deficiency or another form of a neurotransmitter deficiency. Getting these results back could not have come at a better time; Ian had an appointment with Dr. Gerald Raymond, his neuro-geneticist, the next day. I gave Julie all of his information so she could be in touch with him before our appointment the next day. Seeing Dr. Raymond, lead to more blood and urine tests. The blood was to check Ian’s prolactin level when he was not having an episode. The urine was the next test to be done for neurotransmitter diseases, this test needed to be shipped to a lab in Atlanta. Ian’s prolactin level came back elevated however not as elevated as when it was done the first time. Unfortunately his urine test came back normal. This did not mean there was not a neurotransmitter disease, it just meant we had more tests to undergo.
The next test to be conducted…a spinal tap and MRI. This was not a fun day for any of us…first thing in the morning we needed to be at Johns Hopkins Hospital for Ian to have a picture taken of his head. That is all we told him he was having done, there was no need to tell him about the spinal tap. We knew when we left that the MRI was normal. The spinal tap had to be shipped away to Atlanta. There are not many labs which can conduct the tests which need to be done for pediatric neurotransmitter diseases. The one we have been using is run by Dr. Keith Hyland. Everything must be done a specific way in order for the tests to be run. We are now into March, Dr. Raymond called with the results, it was suspected that Ian had Tyrosine Hydroxylase (TH) deficiency. Based on this, Dr. Raymond stated Ian on Sinemet. We went through some rough weeks working through Ian’s adjustment to the medicine. In addition, based on the spinal tap results, Ian had more blood drawn, this again was sent to the lab in Atlanta in order for to confirm the suspected diagnosis. This needed to be done through a gene analysis which took five months to conduct. We are now into the summer, July actually when we find out that Ian does NOT have TH. This was a shock to us, we thought we had our answer. What we did know, Ian does have a neurotransmitter disease in the dopamine pathway.
Some where between Ian having the spinal tap and him starting on Sinemet; Ian became 100% dependent care. He was no longer walking, unable to hold his balance to use the bathroom or stand in the shower. Had trouble feeding himself. We were watching our sweet boy fade away with all of his motor skills. The one thing Ian did not lose during this whole process was his cognitive abilities, he knew what was going on...that was also hard. Watching him try to do something and then start to yell at his legs because they would not work...he knew he was able to do things before that he was not able to do anymore. How do you help your child? We just kept our spirits up as best as we could, especially around Ian and Becca. We were going to find out what was going on regardless of how long or what it took.
So we knew we were not looking at one of the pathways containing tyrosine. Dr. Raymond was not shocked regarding this result. He was not convinced based on some of Ian’s characteristics Ian had TH. He felt based on some of his characteristics he could have Sepiapterin Reductase (SR) deficiency. We are now 6 weeks into the gene testing for SR.
Anything we can do to help Marci, just let us know. I hope you get a diagnosis and they can treat it and Ian goes back to lovable Ian. I know it must be frustrating for you guys, but especially him.
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