Appointment with the Neurologist:
In the last post, I talked about how we ended up getting an appointment with a neurologist to find out more about Patrick's eye issue. That appointment went well. The neurologist was extremely nice and patient. We had so many questions, and we also had to answer so many questions. Patrick was very good cooperating with the simple tests the doctor performed at his office, like following objects from side to side, and checking up his body, his reflexes, abilities and such. He said Patrick had something called "Oculomotor Apraxia". The way he explained it, made my husband and me feel better about the whole situation. "He was born with it, it won't get better, but it won't get worse. He will learn to deal with it, and will learn to compensate it as he grows. Overall he can have a normal life".
We were told that an MRI was necessary to find out more about the "level" of the damage, the causes, and such. He referred us to a Pediatric Neuro-Ophthalmologist that specializes in his condition. We had a trip planned to Mexico to celebrate Patrick's Baptism in 3 weeks, and Patrick and I would spend one month in Mexico, so time was kind of an issue. The Neurologist was nice enough to tell the eye doctor to squeeze in an appointment before we had to leave for Mexico. The MRI was scheduled 3 days after our return from the trip.
Appointment with the Neuro-Ophthalmologist:
The visit with the Pediatric Neuro-Ophthalmologist didn't go well. As a matter of fact, it was the worst day of my life. He said that Oculomotor Apraxia was one of the indications of something called "Joubert Syndrome". Another indication was decreased muscle tone, which Patrick seemed to also have because by then, at almost 10 months old, he wasn't crawling, pulling up, and had just started to roll over. He said the MRI would only confirm what he was telling us.
Neither my husband nor I ever heard of the Syndrome, so at that point we didn't know how bad the diagnosis was. In the back of my head was still the minimum concern the neurologist expressed, so I didn't think it could be that bad. Up until we were walking out the door, was when the doctor said "He won't be an athlete or an aviator, but, I know few of them that were able to get a college degree". WHAT?!?! I just assumed all along Patrick (and any of my children) would have no problem getting a college degree, or a job, or about anything they pursued.
While we were driving back home, my husband called my mother in law to tell her about the diagnosis, and she immediately searched for info online. She said there had to be something wrong in the diagnosis because it couldn't be possible that Patrick had "such" thing. We couldn't wait to get home and learn more about it, and once we did, my world fell apart. From what we read online, in some cases kids with Joubert Syndrome suffer mental retardation, have severe developmental delays, are not able to walk among other physical things, and in worst cases it could be progressive, so even if Patrick learned to walk today, he could stop walking 5 years later, for the rest of his life. To make things worst, Joubert Syndrome is a genetic disorder, so there were huge chances that any or all of our future children would be born with Joubert Syndrome as well.
I waited until I was in Mexico to tell my family the news. I was terribly sad, but they kept reminding me that the MRI was still to be performed, so until then, and even then, I shouldn't suffer about it. "There is nothing wrong with Patrick" everyone kept saying. And most important, everyone offered prayers and support. I was glad to be home with my family during those difficult times. The Baptism planning and the tours we had scheduled with Patrick's godparents, who were visiting from United States, kept us busy all the time we were there, so I didn't have much time to think about what was going on. I started to pray faithfully every single day and that gave me so much hope and peace.
The MRI:
We were back from Mexico and Patrick had his MRI. I was asked to hold my baby's hands while he was put to sleep. The picture of his big brown eyes as he was losing consciousness is still fresh in my head. It just broke my heart seeing him on the hospital bed, so tiny, so innocent, so sweet, so unaware of what was going on. The MRI was performed and Patrick woke up from his "nap" 2 hours later like nothing had happened. He is such a good little man. It would take up to 2 weeks to hear from the Neurologist.
It took 5 long weeks.
I called the doctor after the second week but wasn't able to talk to him. In the next few weeks, he called back 3 times but each of those times I wasn't able to take the call. Once I was doing the laundry while my phone was charging, another time I was taking a shower, and the last one I was driving with the phone at the bottom of my purse. I couldn't believe it. I called back each time without success. Why was it being so difficult for the doctor and myself to reach other? Why was it taking so long to hear the news?
The MRI results:
Patrick's 1st birthday party was only 2 days away. We had organized a lunch with friends at one of our favorite Mexican restaurants, but I just didn't feel like celebrating, so I decided to read some Catholic readings my mom had given me. This is something I read that day:
That was it. How silly I had been for doubting. My faith, my hope, all had suddenly gotten stronger. My son would be fine, because of God's works.
The next day, our good friends from New Jersey came down to celebrate Patrick's birthday party and were staying at our house. I was just telling the girls how I hadn't been able to reach the doctor and vice versa, when my phone rang. It was the doctor. One of the girls ran outside to tell my husband, who was with the guys, to come inside and take the call. Doctor was on the speaker, explaining to us how Patrick's brain showed clearly what was causing the eye issue: "Parts of Patrick's cerebellum didn't develop fully, and those were the parts that controlled the eye movements. Everything that had to be in the brain, was there, just a few parts were a bit smaller. No sign of tumor, and no sign of Joubert Syndrome". Thank you, Lord!
Next day was Patrick's 1st birthday party, and we celebrated it to the fullest.
In the last post, I talked about how we ended up getting an appointment with a neurologist to find out more about Patrick's eye issue. That appointment went well. The neurologist was extremely nice and patient. We had so many questions, and we also had to answer so many questions. Patrick was very good cooperating with the simple tests the doctor performed at his office, like following objects from side to side, and checking up his body, his reflexes, abilities and such. He said Patrick had something called "Oculomotor Apraxia". The way he explained it, made my husband and me feel better about the whole situation. "He was born with it, it won't get better, but it won't get worse. He will learn to deal with it, and will learn to compensate it as he grows. Overall he can have a normal life".
We were told that an MRI was necessary to find out more about the "level" of the damage, the causes, and such. He referred us to a Pediatric Neuro-Ophthalmologist that specializes in his condition. We had a trip planned to Mexico to celebrate Patrick's Baptism in 3 weeks, and Patrick and I would spend one month in Mexico, so time was kind of an issue. The Neurologist was nice enough to tell the eye doctor to squeeze in an appointment before we had to leave for Mexico. The MRI was scheduled 3 days after our return from the trip.
Appointment with the Neuro-Ophthalmologist:
The visit with the Pediatric Neuro-Ophthalmologist didn't go well. As a matter of fact, it was the worst day of my life. He said that Oculomotor Apraxia was one of the indications of something called "Joubert Syndrome". Another indication was decreased muscle tone, which Patrick seemed to also have because by then, at almost 10 months old, he wasn't crawling, pulling up, and had just started to roll over. He said the MRI would only confirm what he was telling us.
Neither my husband nor I ever heard of the Syndrome, so at that point we didn't know how bad the diagnosis was. In the back of my head was still the minimum concern the neurologist expressed, so I didn't think it could be that bad. Up until we were walking out the door, was when the doctor said "He won't be an athlete or an aviator, but, I know few of them that were able to get a college degree". WHAT?!?! I just assumed all along Patrick (and any of my children) would have no problem getting a college degree, or a job, or about anything they pursued.
While we were driving back home, my husband called my mother in law to tell her about the diagnosis, and she immediately searched for info online. She said there had to be something wrong in the diagnosis because it couldn't be possible that Patrick had "such" thing. We couldn't wait to get home and learn more about it, and once we did, my world fell apart. From what we read online, in some cases kids with Joubert Syndrome suffer mental retardation, have severe developmental delays, are not able to walk among other physical things, and in worst cases it could be progressive, so even if Patrick learned to walk today, he could stop walking 5 years later, for the rest of his life. To make things worst, Joubert Syndrome is a genetic disorder, so there were huge chances that any or all of our future children would be born with Joubert Syndrome as well.
I waited until I was in Mexico to tell my family the news. I was terribly sad, but they kept reminding me that the MRI was still to be performed, so until then, and even then, I shouldn't suffer about it. "There is nothing wrong with Patrick" everyone kept saying. And most important, everyone offered prayers and support. I was glad to be home with my family during those difficult times. The Baptism planning and the tours we had scheduled with Patrick's godparents, who were visiting from United States, kept us busy all the time we were there, so I didn't have much time to think about what was going on. I started to pray faithfully every single day and that gave me so much hope and peace.
 |
| Patrick the day of his Baptism |
We were back from Mexico and Patrick had his MRI. I was asked to hold my baby's hands while he was put to sleep. The picture of his big brown eyes as he was losing consciousness is still fresh in my head. It just broke my heart seeing him on the hospital bed, so tiny, so innocent, so sweet, so unaware of what was going on. The MRI was performed and Patrick woke up from his "nap" 2 hours later like nothing had happened. He is such a good little man. It would take up to 2 weeks to hear from the Neurologist.
It took 5 long weeks.
I called the doctor after the second week but wasn't able to talk to him. In the next few weeks, he called back 3 times but each of those times I wasn't able to take the call. Once I was doing the laundry while my phone was charging, another time I was taking a shower, and the last one I was driving with the phone at the bottom of my purse. I couldn't believe it. I called back each time without success. Why was it being so difficult for the doctor and myself to reach other? Why was it taking so long to hear the news?
The MRI results:
Patrick's 1st birthday party was only 2 days away. We had organized a lunch with friends at one of our favorite Mexican restaurants, but I just didn't feel like celebrating, so I decided to read some Catholic readings my mom had given me. This is something I read that day:
John 9: 1-3
As He passed by, He saw a man blind from birth. And His disciples asked Him, "Rabbi, who sinned, this man or his parents, that he would be born blind?" Jesus answered, "It was neither that this man sinned, nor his parents; but it was so that the miracles of God might be displayed in him".
The next day, our good friends from New Jersey came down to celebrate Patrick's birthday party and were staying at our house. I was just telling the girls how I hadn't been able to reach the doctor and vice versa, when my phone rang. It was the doctor. One of the girls ran outside to tell my husband, who was with the guys, to come inside and take the call. Doctor was on the speaker, explaining to us how Patrick's brain showed clearly what was causing the eye issue: "Parts of Patrick's cerebellum didn't develop fully, and those were the parts that controlled the eye movements. Everything that had to be in the brain, was there, just a few parts were a bit smaller. No sign of tumor, and no sign of Joubert Syndrome". Thank you, Lord!
Next day was Patrick's 1st birthday party, and we celebrated it to the fullest.
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| Our friends celebrating Patrick's 1st Birthday party |
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| Patrick next to his birthday cakes |
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