Tomorrow we head back to Cincinnati for Spencer's Urodynamics study. I'm a nervous wreck about all of it. It's a hard test for anyone to go through, but even more so for a child. Essentially they are going to fill his bladder with saline to measure the pressure inside. Then after that hot mess he has to have a renal ultrasound. Then they will try to get him to pee on xray. It's a fairly miserable experience for all involved. Jimmy is going to take the ultrasound, since I absolutely hate doing them. I hate doing all of it, but I hate having to position him and try to get him to relax. I'll take the other two tests. Luckily, we won't have to wait long for the results because his urology appointment is at 2 on the same day. Worst case scenario he has kidney damage and we have to start cathing him.
Dr. Hopkin gave us some hope. Spencer's bladder issues were caused by some nerve damage to his spinal cord. There is a small chance that some of the cells may regenerate and could help bladder function. I'm going to pick Dr. Alam's (his urologists) brain while we are in clinic about this. The last thing I want to do is start cathing Spencer. Usually once you start, you always have to do it. He is 3 and would have to have this done for the rest of his life. His prognosis is good, so cathing would be something he would still have to do as an adult.
Saturday, June 15, 2013
Friday, June 14, 2013
Screw it, we're just calling it Spencer Syndrome
Just got back from an overnight stay in Cincinnati. Spencer had some labs drawn, a ortho followup, a visit with Trauma Services, a sleep study, and a genetics follow up. It's been an exhausting couple of days and we get to go back Sunday to do more testing and appointments. Joy.
Let's start at the beginning....Spencer had his tests done for school....Hemoglobin and Lead....His hemoglobin is 15.3 and his Hematocrit is 43.7. Both are high, but if I remember right it's common with kids with heart or airway problems. I'll ask his pulmonary doc when we are there in a couple weeks. He also had his lead level tested which was super low, something I've been super paranoid about since moving into our ancient house. He also had a renal profile and blood gas done, which both look pretty good as well.
Then came the Trauma Services appointment. Basically we were there discussing whether or not Spencer needs a special needs car seat since he's outgrowing his current one. He does not and we scored a free new combination booster seat.
Then we went to see Dr. Tamai, his foot orthopedic doc, for a club foot followup. There was a kid there at the same time we were that was named Nicholas Spencer, which gave us all a good laugh. Anyhow, his feet look great and everything fits pretty good. We did discuss a potential foot surgery in the next year or two, if his right ankle doesn't straighten up. Either we would release a tendon or put a pin in the growth plate. We'll cross that bridge when we get to it.
Sleep study blew. First we had to wait forever for his first dose of Chloral Hydrate to show up. I wouldn't let them touch him until he went to sleep. He woke up at some point during the hookup and went in to sensory meltdown. I requested the second dose of medicine, which you would think they would have sent up to the floor already considering it was such a pain in the ass to get the first one. That took another hour. You could just see the RTs getting antsy because of time. It took me forever to calm him down and I finally did shortly before the medicine came in. I was about to cut someone's throat. Anyhow, got him back asleep and hooked up finally about 11. He slept most of the night and only woke up to grump a few times. We should have the results in a couple of weeks. If this went well, it should be our last one and we can get rid of the oxygen equipment in the house.
Finally, genetics. We "graduated" to once a year appointments today. We discussed Spencer's gene mutation on Chromosome 10q22KAT6B. There is another syndrome that shares some of the gene mutations with Ohdo syndrome, called Genitopatellar syndrome. Spencer shows characteristics of both syndrome and could very well have both or something that combines the two. The researched in the UK has seen several people with an overlap. Our geneticists at Cincinnati are going back again and looking at his lab results from the Ohdo testing to see what they can find. Spencer essentially is the poster child for both syndromes. It will be interesting to see how this turns out. I've decided if he has something they've decided new entirely, I'm demanding it be named after him.
Let's start at the beginning....Spencer had his tests done for school....Hemoglobin and Lead....His hemoglobin is 15.3 and his Hematocrit is 43.7. Both are high, but if I remember right it's common with kids with heart or airway problems. I'll ask his pulmonary doc when we are there in a couple weeks. He also had his lead level tested which was super low, something I've been super paranoid about since moving into our ancient house. He also had a renal profile and blood gas done, which both look pretty good as well.
Then came the Trauma Services appointment. Basically we were there discussing whether or not Spencer needs a special needs car seat since he's outgrowing his current one. He does not and we scored a free new combination booster seat.
Then we went to see Dr. Tamai, his foot orthopedic doc, for a club foot followup. There was a kid there at the same time we were that was named Nicholas Spencer, which gave us all a good laugh. Anyhow, his feet look great and everything fits pretty good. We did discuss a potential foot surgery in the next year or two, if his right ankle doesn't straighten up. Either we would release a tendon or put a pin in the growth plate. We'll cross that bridge when we get to it.
Sleep study blew. First we had to wait forever for his first dose of Chloral Hydrate to show up. I wouldn't let them touch him until he went to sleep. He woke up at some point during the hookup and went in to sensory meltdown. I requested the second dose of medicine, which you would think they would have sent up to the floor already considering it was such a pain in the ass to get the first one. That took another hour. You could just see the RTs getting antsy because of time. It took me forever to calm him down and I finally did shortly before the medicine came in. I was about to cut someone's throat. Anyhow, got him back asleep and hooked up finally about 11. He slept most of the night and only woke up to grump a few times. We should have the results in a couple of weeks. If this went well, it should be our last one and we can get rid of the oxygen equipment in the house.
Finally, genetics. We "graduated" to once a year appointments today. We discussed Spencer's gene mutation on Chromosome 10q22KAT6B. There is another syndrome that shares some of the gene mutations with Ohdo syndrome, called Genitopatellar syndrome. Spencer shows characteristics of both syndrome and could very well have both or something that combines the two. The researched in the UK has seen several people with an overlap. Our geneticists at Cincinnati are going back again and looking at his lab results from the Ohdo testing to see what they can find. Spencer essentially is the poster child for both syndromes. It will be interesting to see how this turns out. I've decided if he has something they've decided new entirely, I'm demanding it be named after him.
Saturday, June 8, 2013
Struggling.
Spencer has been home from the NICU for three years. As his gift, we bought him a small helicopter, that he loves. We plan on going to the pound later in the month, after our Cincinnati appointments coming up, and let him pick out a pet if he chooses.
I've been really struggling with Spencer's disabilities lately. The hardest one is that he can't talk, and he likely will always struggle to use speech. I would kill to hear him ask me a question, or tell me how he's feeling. I know he'll talk...whether it be with a device or not, but he should be talking my ear off now and it's hard that he's not. It's hard that he doesn't have a voice.
Quinn is doing awesome. Spencer's even starting to warm up to her and steals her toys on occasion. She is just starting to lift her head up during belly time (which she hasn't had a ton of). She's "talking" up a storm. Jimmy started cooing, and Quinn did it back. They took turns in doing it for a while and even Spencer did it once or twice.
He is doing awesome with his eating. He still doesn't know quite what to do with ground beef yet. He loved soft tacos, but struggled to get the meat down too. He sloshes the soft taco shell in his mouth. Next time I'm going to do hard shell ones and that should help him chew. He ate over half a pita pizza pocket the other day. He'll be ready for a happy meal in no time.
I've been really struggling with Spencer's disabilities lately. The hardest one is that he can't talk, and he likely will always struggle to use speech. I would kill to hear him ask me a question, or tell me how he's feeling. I know he'll talk...whether it be with a device or not, but he should be talking my ear off now and it's hard that he's not. It's hard that he doesn't have a voice.
Quinn is doing awesome. Spencer's even starting to warm up to her and steals her toys on occasion. She is just starting to lift her head up during belly time (which she hasn't had a ton of). She's "talking" up a storm. Jimmy started cooing, and Quinn did it back. They took turns in doing it for a while and even Spencer did it once or twice.
He is doing awesome with his eating. He still doesn't know quite what to do with ground beef yet. He loved soft tacos, but struggled to get the meat down too. He sloshes the soft taco shell in his mouth. Next time I'm going to do hard shell ones and that should help him chew. He ate over half a pita pizza pocket the other day. He'll be ready for a happy meal in no time.
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