I just realized how long it's been since I updated. Ack! Sorry about that. The good thing is... No news really is good news.
We moved in May due to my lease ending and our desire to move in with my friend Liz and her son Kevin. We now live in the Rosegarden area of San Jose, in a charming little 98 year old farmhouse on a 10,000 square foot lot. Our rent is actually less because of the house sharing arrangement.
Ricky started school (he's a sophomore) on Monday the 15th.
His health has been great. He has finally started growing like crazy (several inches this year alone) and I'd bet he'll pass me up in height by the end of the year. After not growing for several years! Yay Ricky! He has been out of the hospital for coming up on two years now. Yay! We have his genetics appointment later this month where he will finally be tested for Ehlers-Danlos.
That is it for now and I'll try to be better about updating. :)
Showing posts with label genetic testing. Show all posts
Showing posts with label genetic testing. Show all posts
Friday, August 19, 2011
Friday, April 29, 2011
Endoscopy and other updates
Wow, already 10 days since Ricky's endoscopy. Anyway, it went well. We got a call the day before from the surgery center saying that we needed to get to LPCH at 1:15 pm. Shortly thereafter, we heard from the gastro doc's office that Ricky needed pre-procedure paperwork. Uhhh. Eek!!! So I found a lab that was going to be open late enough, and I rushed Ricky there to get his blood drawn.
We got to the hospital early for once, and went to the surgery center. After checking in, we went to an exam room and saw a parade of people for exams, paperwork, a review of Ricky's meds, and port access... A couple of nurses, the gastro doc (who would be doing the procedure), the anesthesiologist... And then finally it was time.
We walked upstairs to the ambulatory procedure unit. I got to go in and watch them put Ricky under. It was funny. The anesthesiologist pushed in Versed, which made Ricky all woozy and loopy. Then she pushed in this white stuff and his eyes rolled right back into his head and he was out. He was holding my hand still but he was OUT.
So I went out to the waiting room, plugged in my poor dying phone, and read my book for a while. He was done fairly quickly. And by the time I got to recovery he was already awake! Usually he takes a long time to wake up.
The doctor let me know that his endoscopy went fine. She did also do a short flexible sigmoidoscopy and she found a polyp in his colon. She even showed me a picture of it. She said she should it was likely just a "juvenile polyp" but that she had biopsied it. If it was just that, he would need a colonoscopy in a year to check on it. If it turned out to be cancerous, we would have to do something sooner, but she was pretty sure that wouldn't happen. Bad news about a colonoscopy is the preparation... Go-Lytely, etc. She figured he'd have to go into the hospital in advance for an NG tube to administer that stuff.
Yesterday I got a call from the doc saying that the biopsy had revealed that the polyp was actually just an ulcer. These are usually caused by constipation, that sort of thing. She emphasized again that he needs to be using his Miralax regularly and taking care of his body. Man up, be a big boy. I agreed and Ricky and I have been talking seriously about this. The good news? No colonoscopy in a year! Hooray! She does want to do an ultrasound soon because of Ricky's belly aches. Just to make sure he doesn't have kidney stones or gallstones going on in there.
More good news, Ricky was at school every single day this week, although one day I did have to pick him up early because he was so sleepy.
We also had his triennial IEP and he had extensive testing done. His eligibility designations were changed from Other Health Impaired (CF) and Severe Emotional Disturbance to OHI and Learning Disability. It was nice to hear that the SED is gone... But on the other hand this newly diagnosed learning disability (in mathematics) is sad to hear about. But at least now he can be getting some help with that. He was also found to be deficient in a few other areas, including reading comprehension.
It was also suggested that Ricky be considered for a course at another local high school in our district where he would learn life and job skills in addition to academic courses. I am going to go tour there soon. Though with us moving soon, and not knowing which district we'll end up in, who knows where he will end up? Ugh.
Ricky's dad had his blood drawn a few weeks ago for the duplication in the seventh chromosome. Finally! We waited a long time for the prison doctor to get off his butt and order the test. Soon we will know if Rick also carries that mutation. One way or another Ricky will eventually have other testing for other stuff like connective tissue disorders.
Also went back for the twice-yearly neuro appointment. Since he's been doing so well, I asked whether he could be taken off of the Topamax, since it makes him so dopey and sleepy. The neurologist agreed that we could start backing off slowly on it and to immediately call if he had seizure activity or other adverse events. So, yay. :)
Guess that is it for now. Goodnight!!!
We got to the hospital early for once, and went to the surgery center. After checking in, we went to an exam room and saw a parade of people for exams, paperwork, a review of Ricky's meds, and port access... A couple of nurses, the gastro doc (who would be doing the procedure), the anesthesiologist... And then finally it was time.
We walked upstairs to the ambulatory procedure unit. I got to go in and watch them put Ricky under. It was funny. The anesthesiologist pushed in Versed, which made Ricky all woozy and loopy. Then she pushed in this white stuff and his eyes rolled right back into his head and he was out. He was holding my hand still but he was OUT.
So I went out to the waiting room, plugged in my poor dying phone, and read my book for a while. He was done fairly quickly. And by the time I got to recovery he was already awake! Usually he takes a long time to wake up.
The doctor let me know that his endoscopy went fine. She did also do a short flexible sigmoidoscopy and she found a polyp in his colon. She even showed me a picture of it. She said she should it was likely just a "juvenile polyp" but that she had biopsied it. If it was just that, he would need a colonoscopy in a year to check on it. If it turned out to be cancerous, we would have to do something sooner, but she was pretty sure that wouldn't happen. Bad news about a colonoscopy is the preparation... Go-Lytely, etc. She figured he'd have to go into the hospital in advance for an NG tube to administer that stuff.
Yesterday I got a call from the doc saying that the biopsy had revealed that the polyp was actually just an ulcer. These are usually caused by constipation, that sort of thing. She emphasized again that he needs to be using his Miralax regularly and taking care of his body. Man up, be a big boy. I agreed and Ricky and I have been talking seriously about this. The good news? No colonoscopy in a year! Hooray! She does want to do an ultrasound soon because of Ricky's belly aches. Just to make sure he doesn't have kidney stones or gallstones going on in there.
More good news, Ricky was at school every single day this week, although one day I did have to pick him up early because he was so sleepy.
We also had his triennial IEP and he had extensive testing done. His eligibility designations were changed from Other Health Impaired (CF) and Severe Emotional Disturbance to OHI and Learning Disability. It was nice to hear that the SED is gone... But on the other hand this newly diagnosed learning disability (in mathematics) is sad to hear about. But at least now he can be getting some help with that. He was also found to be deficient in a few other areas, including reading comprehension.
It was also suggested that Ricky be considered for a course at another local high school in our district where he would learn life and job skills in addition to academic courses. I am going to go tour there soon. Though with us moving soon, and not knowing which district we'll end up in, who knows where he will end up? Ugh.
Ricky's dad had his blood drawn a few weeks ago for the duplication in the seventh chromosome. Finally! We waited a long time for the prison doctor to get off his butt and order the test. Soon we will know if Rick also carries that mutation. One way or another Ricky will eventually have other testing for other stuff like connective tissue disorders.
Also went back for the twice-yearly neuro appointment. Since he's been doing so well, I asked whether he could be taken off of the Topamax, since it makes him so dopey and sleepy. The neurologist agreed that we could start backing off slowly on it and to immediately call if he had seizure activity or other adverse events. So, yay. :)
Guess that is it for now. Goodnight!!!
Thursday, April 29, 2010
Long-overdue update!
So, what's been going on with Ricky, you might ask? :)
Lots!!! Where do I start? Well, his cardiology appointment started with an ultrasound of his heart. It still showed a dilation of the ascending aorta, just like a year ago. The cardiologist let us know that it had not changed in size from a year ago. She drew a picture of the heart and its arteries and veins and explained that most likely this would never cause Ricky problems. On the other hand, this sort of defect is almost never found in a child who does not have a syndrome of some type.
And in that department, a couple of weeks back I got word from the genetic counselor that the first genetic test, which was a long shot anyhow, had come back negative. This week, I got a call from her about the other test we were waiting for, a genetic array. This time, an abnormality was found. Ricky has extra genetic material (known as a duplication) on one part of chromosome 11. We are not sure yet what this means -- in truth, the field of genetics is really still in its infancy. The next step is for them to test my DNA (they already took blood when they took Ricky's 2 months ago) to see if I have this too, and if not, they'll want to test the boys' dad. He has offered to be cooperative with medical stuff, so we shall see (if it comes up). On the other hand, from what I have read online, many times these sorts of defects happen spontaneously during or just before conception, and have nothing to do with inheritance. So mysterious!
Ricky has had one ER visit lately; it was due to some pretty severe abdominal pain. It turned out to be nothing, and his lungs look(ed) great. He has been on Dulcolax on a regular basis since then and it seems to help.
He is still having pretty bad dizzy spells. I am so frustrated with the neurologist that I haven't called there in a while. I was supposed to call the nurse to tell her how we had decided to proceed. I upped Ricky's morning dose of Topamax, which hasn't done a lot, but may have improved things.
Had a recheck with the psychiatrist, mostly to check in, and things are looking good.
I took both boys to their new dental center, which was amazing! Disney Channel, video games, all kinds of fun stuff. Wow. Unfortunately they were unable to work on Ricky's complicated teeth... He needs to have his bicuspids (all four -- adult teeth) removed so his cuspids can come in (I may have that backwards). He needs this stuff done before he can have orthodonture. This dental center felt uncomfortable doing this work (or even cleaning his teeth) given his medical history and all of the meds he is on. They gave me a referral to take him to the dental school at UCSF, where the procedure would be supervised by a physician as well. I am glad they're being careful, but jeeeeez.
School is going okay. He has good and bad days. He has days where he refuses to do work at all. We had his IEP meeting last month and decided on his placement for high school -- it happens to be the same place I went to high school. I need to make an appointment for Ricky and me to go visit the classroom. I met the teacher at the IEP meeting and the program sounds really good.
There have been sibling... Issues. Ricky and Andrew both have limited understanding of what Misty is capable of "getting". She wrecks their stuff, that sort of thing, and they can't figure her out. They think she is being malicious but I honestly believe that at her age (almost 4) she is mostly being... 4. Curious.
Ricky's digestive enzymes, Pancrecarb, have not been approved by the FDA by its digestive enzyme approval deadline (April 28), so the CF clinic staff has been scrambling to get people set up with new enzymes. We have quite a few bottles of Pancrecarb left, but after he runs out he'll be on Creon. We are not sure of the future availability of Pancrecarb, which appears to have a grim outlook. Creon was what Ricky was on from when he was diagnosed to when he was put onto Pancrecarb, so it will probably be okay. It just sucks to have to switch to something else after what he's been on all this time has done so well for him.
His labs also came back with his vitamin D being significantly low, so he's going to have to go onto an extra supplement (besides what is in his multivitamin) for a little while. Don't want him to get rickets! Yow!
So, now we wait to see how things go with the genetic tests. CF-wise, Ricky has been out of the hospital since November and things are looking good. His lung function is great. :)
That's all for now!
Lots!!! Where do I start? Well, his cardiology appointment started with an ultrasound of his heart. It still showed a dilation of the ascending aorta, just like a year ago. The cardiologist let us know that it had not changed in size from a year ago. She drew a picture of the heart and its arteries and veins and explained that most likely this would never cause Ricky problems. On the other hand, this sort of defect is almost never found in a child who does not have a syndrome of some type.
And in that department, a couple of weeks back I got word from the genetic counselor that the first genetic test, which was a long shot anyhow, had come back negative. This week, I got a call from her about the other test we were waiting for, a genetic array. This time, an abnormality was found. Ricky has extra genetic material (known as a duplication) on one part of chromosome 11. We are not sure yet what this means -- in truth, the field of genetics is really still in its infancy. The next step is for them to test my DNA (they already took blood when they took Ricky's 2 months ago) to see if I have this too, and if not, they'll want to test the boys' dad. He has offered to be cooperative with medical stuff, so we shall see (if it comes up). On the other hand, from what I have read online, many times these sorts of defects happen spontaneously during or just before conception, and have nothing to do with inheritance. So mysterious!
Ricky has had one ER visit lately; it was due to some pretty severe abdominal pain. It turned out to be nothing, and his lungs look(ed) great. He has been on Dulcolax on a regular basis since then and it seems to help.
He is still having pretty bad dizzy spells. I am so frustrated with the neurologist that I haven't called there in a while. I was supposed to call the nurse to tell her how we had decided to proceed. I upped Ricky's morning dose of Topamax, which hasn't done a lot, but may have improved things.
Had a recheck with the psychiatrist, mostly to check in, and things are looking good.
I took both boys to their new dental center, which was amazing! Disney Channel, video games, all kinds of fun stuff. Wow. Unfortunately they were unable to work on Ricky's complicated teeth... He needs to have his bicuspids (all four -- adult teeth) removed so his cuspids can come in (I may have that backwards). He needs this stuff done before he can have orthodonture. This dental center felt uncomfortable doing this work (or even cleaning his teeth) given his medical history and all of the meds he is on. They gave me a referral to take him to the dental school at UCSF, where the procedure would be supervised by a physician as well. I am glad they're being careful, but jeeeeez.
School is going okay. He has good and bad days. He has days where he refuses to do work at all. We had his IEP meeting last month and decided on his placement for high school -- it happens to be the same place I went to high school. I need to make an appointment for Ricky and me to go visit the classroom. I met the teacher at the IEP meeting and the program sounds really good.
There have been sibling... Issues. Ricky and Andrew both have limited understanding of what Misty is capable of "getting". She wrecks their stuff, that sort of thing, and they can't figure her out. They think she is being malicious but I honestly believe that at her age (almost 4) she is mostly being... 4. Curious.
Ricky's digestive enzymes, Pancrecarb, have not been approved by the FDA by its digestive enzyme approval deadline (April 28), so the CF clinic staff has been scrambling to get people set up with new enzymes. We have quite a few bottles of Pancrecarb left, but after he runs out he'll be on Creon. We are not sure of the future availability of Pancrecarb, which appears to have a grim outlook. Creon was what Ricky was on from when he was diagnosed to when he was put onto Pancrecarb, so it will probably be okay. It just sucks to have to switch to something else after what he's been on all this time has done so well for him.
His labs also came back with his vitamin D being significantly low, so he's going to have to go onto an extra supplement (besides what is in his multivitamin) for a little while. Don't want him to get rickets! Yow!
So, now we wait to see how things go with the genetic tests. CF-wise, Ricky has been out of the hospital since November and things are looking good. His lung function is great. :)
That's all for now!
Thursday, March 4, 2010
Another diagnosis? And an update.
We had an appointment in the Genetics clinic a earlier this week. I've been mulling things over for a while now, unsure of how to post what we learned.
For a long time some of Ricky's other doctors and I have been wondering if there might be something else going on with him... Some other genetic disorder. You may have seen me post about this here before. Among other things, he has these signs of "something else":
-hyperflexible joints
-high, narrow palate
-heterotopias (undeveloped gray matter) in the brain
-soft, thin skin
-thin veins
-issues with teeth
-issues with vision
We saw the geneticist back in 2006 and were supposed to go back a year later. Unfortunately, with Misty being born, time slipped by and I just finally got him another appointment. This time around, the geneticist did a lot of diagnostics, including examining Ricky's fingers and toes, measuring his eyes, his armspan, etc.
Finally, the geneticist and genetic counselor explained what they planned to do. First of all, blood was drawn for a full chromosome analysis. They did this when we were there in 2006, but as time goes on there end up being more and more genes identified. As the geneticist says, "In genetics, time is on our side." My blood was also taken as a control for this test. Secondly, he had blood drawn for another test that is for one of the connective tissue disorders that relates to the heterotopias -- it's more common in females . One of these tests will take 6 weeks (done at Stanford) and the other one will take 8 weeks (sent to Boston). If they are both negative, he will then have testing for Ehlers-Danlos Syndrome. Based on what I see on that page... Well, it really sounds like Ricky.
Here's something else I learned: When Ricky had his EKG (heart ultrasound) in April of last year, when he was in the hospital for his CF and was also having his dizziness investigated, the result was a finding of an enlarged aorta. Now, that would have been a useful thing to know, wouldn't it? I was pretty upset to find this out in via an offhand remark by the geneticist! The genetic counselor subsequently emailed Ricky's pulmonologist, who out of all of the specialists basically manages his care, to ask about a visit to a cardiologist. The pulmonologist agreed that Ricky should see a cardiologist to find out if there is really a problem. (Heart issues are also common in some connective tissue disorders.) So we are waiting for a call on that.
I have mixed feelings. If Ricky does have Ehlers-Danlos or some other connective tissue disorder, it would be good to know. It would be nice to have some answers. On the other hand -- jeez, how much does one kid have to deal with!?
In CF news, today I got a call back from the CF nurse in regard to Ricky's visit last week. His DEXA (bone density) test was normal (yay). His sputum culture showed pseudomonas aeruginosa and stenotrophamonas maltophilia, both bugs he has had before, though the second one is fairly new. We'll start up his TOBI (inhaled antibiotic) tomorrow.
The rest of us are doing okay... Misty apparently wants some health attention of her own (well, okay, I know she doesn't WANT it) and has a virus that's made her wheezy and miserable. She was seen by her pediatrician this week and her chest x-rays were a bit iffy for pneumonia. So we are monitoring things. It's probably just a virus and hopefully she improves soon. She has been having breathing treatments regularly. The coughing spells are pretty brutal on her. :(
Guess that is it for now!
For a long time some of Ricky's other doctors and I have been wondering if there might be something else going on with him... Some other genetic disorder. You may have seen me post about this here before. Among other things, he has these signs of "something else":
-hyperflexible joints
-high, narrow palate
-heterotopias (undeveloped gray matter) in the brain
-soft, thin skin
-thin veins
-issues with teeth
-issues with vision
We saw the geneticist back in 2006 and were supposed to go back a year later. Unfortunately, with Misty being born, time slipped by and I just finally got him another appointment. This time around, the geneticist did a lot of diagnostics, including examining Ricky's fingers and toes, measuring his eyes, his armspan, etc.
Finally, the geneticist and genetic counselor explained what they planned to do. First of all, blood was drawn for a full chromosome analysis. They did this when we were there in 2006, but as time goes on there end up being more and more genes identified. As the geneticist says, "In genetics, time is on our side." My blood was also taken as a control for this test. Secondly, he had blood drawn for another test that is for one of the connective tissue disorders that relates to the heterotopias -- it's more common in females . One of these tests will take 6 weeks (done at Stanford) and the other one will take 8 weeks (sent to Boston). If they are both negative, he will then have testing for Ehlers-Danlos Syndrome. Based on what I see on that page... Well, it really sounds like Ricky.
Here's something else I learned: When Ricky had his EKG (heart ultrasound) in April of last year, when he was in the hospital for his CF and was also having his dizziness investigated, the result was a finding of an enlarged aorta. Now, that would have been a useful thing to know, wouldn't it? I was pretty upset to find this out in via an offhand remark by the geneticist! The genetic counselor subsequently emailed Ricky's pulmonologist, who out of all of the specialists basically manages his care, to ask about a visit to a cardiologist. The pulmonologist agreed that Ricky should see a cardiologist to find out if there is really a problem. (Heart issues are also common in some connective tissue disorders.) So we are waiting for a call on that.
I have mixed feelings. If Ricky does have Ehlers-Danlos or some other connective tissue disorder, it would be good to know. It would be nice to have some answers. On the other hand -- jeez, how much does one kid have to deal with!?
In CF news, today I got a call back from the CF nurse in regard to Ricky's visit last week. His DEXA (bone density) test was normal (yay). His sputum culture showed pseudomonas aeruginosa and stenotrophamonas maltophilia, both bugs he has had before, though the second one is fairly new. We'll start up his TOBI (inhaled antibiotic) tomorrow.
The rest of us are doing okay... Misty apparently wants some health attention of her own (well, okay, I know she doesn't WANT it) and has a virus that's made her wheezy and miserable. She was seen by her pediatrician this week and her chest x-rays were a bit iffy for pneumonia. So we are monitoring things. It's probably just a virus and hopefully she improves soon. She has been having breathing treatments regularly. The coughing spells are pretty brutal on her. :(
Guess that is it for now!
Monday, January 25, 2010
status quo for now
Wow! It has been a long time since I posted... Over two months!
Just wanted you all to know that Ricky is doing very well. We have had a couple of emergency room visits for CF issues that turned out to be not as serious as we feared, thank goodness.
He still hasn't entered puberty, so we're going to the endocrinologist soon, and we will also be visiting the geneticist again, in March. We are supposed to go there periodically for a chat and further blood tests, since it's suspected he's got something else going on (yeah, like we need something else!) and there are new genetic tests available all the time. Also have a pulmonology appointment coming up, the same day as the endo visit, and he'll also have full PFTs that day. Going to be a very exhausting day.
Unfortunately, Ricky's dizzy spells are back in nearly full force. The neurology nurse gave me the go-ahead to up his dose of Topamax to see if that helps, so I've started the titration process. I hate that these spells are back because they totally incapacitate him and make him miserable.
Things are going well in school. He continues to be a teacher's aide in the office and they all love him there. We are gearing up for the transition to high school (!!!) this fall. I'm not sure yet where he's going to be going, but one of the options is my alma mater! Now that would be weird! Anyhow, we're having the transition IEP meeting in March and I should get more details then.
Keep your fingers crossed that Ricky stays healthy through the winter!
Wednesday, May 16, 2001
on genetic testing
I don't know what the big fuss is all about. Of course it is beneficial to be tested for genetic diseases. Especially since nowadays you can find out if you are going to have heart disease or breast cancer (for instance) in the future! Of course this is a good thing! Many deaths can be prevented.
My sons have both been tested for cystic fibrosis. My older son was born with medical problems leading to a tentative suggestion of CF, so he was given a genetic blood test when he was under a week old. This test was positive. In fact, we found out what genomes he carried (DeltaF508 from my husband, and Q493x from me, in case you're wondering -- which you're probably not, but oh well), which helped us figure out what the course of his disease might be, and how to treat his disease. This is so valuable!
My younger son was tested via amniocentesis when I was about four months pregnant. My husband and I wanted him either way; if we hadn't, we wouldn't have gambled on another baby. Andy had a 25% chance of having cystic fibrosis; a 25% chance of being completely unaffected by the gene; and a 50% chance of being a carrier (like my husband and myself). As it turned out (3 aggravating weeks later), he was totally unaffected, much to our relief. And let me say that having a "normal" baby was really weird for us!
Some may ask, why bother having him tested in utero (and risking the amniocentesis) if we wanted him either way? Well, the answer is this... Ricky had problems in utero (a ruptured) bowel. So we wanted to know if this baby would have CF so we could look out for that kind of thing (extra ultrasounds, etc.). So that's why we took the risk.
And I guess that all explains why I feel that genetic testing is so important. I don't know what to say for the folks who have abortions after finding out their child is "defective". I don't happen to agree with that, but I also don't want to open up a huge discussion about abortion here. Abortion has its purposes, I believe, but I don't think that weeding out "undesirable" children is one of them.
That's about all I have to say about that. :)
My sons have both been tested for cystic fibrosis. My older son was born with medical problems leading to a tentative suggestion of CF, so he was given a genetic blood test when he was under a week old. This test was positive. In fact, we found out what genomes he carried (DeltaF508 from my husband, and Q493x from me, in case you're wondering -- which you're probably not, but oh well), which helped us figure out what the course of his disease might be, and how to treat his disease. This is so valuable!
My younger son was tested via amniocentesis when I was about four months pregnant. My husband and I wanted him either way; if we hadn't, we wouldn't have gambled on another baby. Andy had a 25% chance of having cystic fibrosis; a 25% chance of being completely unaffected by the gene; and a 50% chance of being a carrier (like my husband and myself). As it turned out (3 aggravating weeks later), he was totally unaffected, much to our relief. And let me say that having a "normal" baby was really weird for us!
Some may ask, why bother having him tested in utero (and risking the amniocentesis) if we wanted him either way? Well, the answer is this... Ricky had problems in utero (a ruptured) bowel. So we wanted to know if this baby would have CF so we could look out for that kind of thing (extra ultrasounds, etc.). So that's why we took the risk.
And I guess that all explains why I feel that genetic testing is so important. I don't know what to say for the folks who have abortions after finding out their child is "defective". I don't happen to agree with that, but I also don't want to open up a huge discussion about abortion here. Abortion has its purposes, I believe, but I don't think that weeding out "undesirable" children is one of them.
That's about all I have to say about that. :)
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