Saturday, September 28, 2013
Ready to Pull my Hair Out
Seriously I am ready to pull my hair out of my head. Troy has been on a roll the last couple nights literally screaming all night long. We are trying our best to get him to sleep through the night. I am not so sure this crying it out technique is going to work for him. He is on about his 3rd hour of crying. He stops for a little while only to gear himself up for the next round. There is no reason for him to be crying really - He has been fed & changed. We have tried patting his back & talkng to him to try to get him to go back to sleep....Nothing works!!!! It is very frustrating. They will not put him on anything to help him sleep until he is a year old. Then there is no guarantee that will work. Sighs!!!! I can't tell you how frustrating this is. The only one's that can even know what we are going through is someone else who has a special needs child. A month ago he was sleeping fine - almost 9 hours a night. What happened?????
Tuesday, September 10, 2013
GENETIC REPORT FROM DR. LEBEL - Troy seen 7/18/13 at 3 months of age
Here is a copy of the results from the genetics doctor. I'm afraid it offers more unanswered questions than we had previously....
Differential diagnosis for an individual w/ developmental delays and/or malformation(s) must include1) normal familial variation 2) sporadic events 3) environmental or teratogenic events. 4) chromosomal (aneuploid) states 5) heriditary (mendelian) traits and 6) combination of these.When multiple abnormalities are present, it is difficult to accept either a sporadic event or a teratogenic influence. Rather, it is more likely that a genetic cause (either mendelian or chromosomal) is involved.
This patient is remarkable for septo-optic dysplasia and adrenal insufficiency, with a few dysmorphic features (low set ears, small penis, undescended testicle, anteverted nares and epicanthus inversus),making him discontinuous. The family history is unenlightening. We have no evidence of potentially teratogenic events. It is obvious that we are not seeing one of the more common major aneuploid states but small deletions and duplications may present w/ diverse (uncluding apparently minor) features. In this case any inheritance pattern is possible (except for direct inheritance from an affected parent).
The London Dysmorphology Database (Winter and Baraitser, 2013) is useful in searching for candidate syndromes. Searching the database for syndromes characterized by low set ears, anteverted nares, bulbous nasal tip, diastasis recti, redundant nuchal skin, small penis, undescended tessticle, adrenal insufficency and dysplasia of the optic nerves, we find over 1400 syndromes with at least one of the features of interest. We find no syndromes with all 9 of the search criteria, nor do we find any with 8, 7 or 6 of the search characteristics. There are numerous syndromes with 5 of the search criteria, none of which are attractive candidate syndromes due to lack of pathognomonic features of these syndrome in this patient. Of these, the only syndromes that actually included the most salient features (septo-optic dysplasia), was CHARGE syndrome, which appears to be a poor choice for this patient. Some of the other were involved with copy number variants, and this might be worth pursuing if developmental patterns do not prove to be normal.
We should make note that the child's mother was only 16 at the time of birth, and that isolated sporadic septo-optic dysplasia is associated with early maternity. Thus it could be an isolated nonsyndromic event, but close follow-up is indicated because there are some other suggestive signs of dysmorphism and we would not want to miss the opportunity to detect early any signs of disordered developmental patterns. It is, however, recognition of her current favorable pattern and the possibility of a nonsyndromic event that leads me to offer no genetic test at present.
Since we do not have a final diagnosis, we cannot know the actual recurrence risk. It might be less than 1% (associated with a sporadic event), but is also could be as high as the 25% that is associated with autosomal recessive inheritance. Consequently, we should assume the latter until or unless we can disprove it as our hypothesis.
Differential diagnosis for an individual w/ developmental delays and/or malformation(s) must include1) normal familial variation 2) sporadic events 3) environmental or teratogenic events. 4) chromosomal (aneuploid) states 5) heriditary (mendelian) traits and 6) combination of these.When multiple abnormalities are present, it is difficult to accept either a sporadic event or a teratogenic influence. Rather, it is more likely that a genetic cause (either mendelian or chromosomal) is involved.
This patient is remarkable for septo-optic dysplasia and adrenal insufficiency, with a few dysmorphic features (low set ears, small penis, undescended testicle, anteverted nares and epicanthus inversus),making him discontinuous. The family history is unenlightening. We have no evidence of potentially teratogenic events. It is obvious that we are not seeing one of the more common major aneuploid states but small deletions and duplications may present w/ diverse (uncluding apparently minor) features. In this case any inheritance pattern is possible (except for direct inheritance from an affected parent).
The London Dysmorphology Database (Winter and Baraitser, 2013) is useful in searching for candidate syndromes. Searching the database for syndromes characterized by low set ears, anteverted nares, bulbous nasal tip, diastasis recti, redundant nuchal skin, small penis, undescended tessticle, adrenal insufficency and dysplasia of the optic nerves, we find over 1400 syndromes with at least one of the features of interest. We find no syndromes with all 9 of the search criteria, nor do we find any with 8, 7 or 6 of the search characteristics. There are numerous syndromes with 5 of the search criteria, none of which are attractive candidate syndromes due to lack of pathognomonic features of these syndrome in this patient. Of these, the only syndromes that actually included the most salient features (septo-optic dysplasia), was CHARGE syndrome, which appears to be a poor choice for this patient. Some of the other were involved with copy number variants, and this might be worth pursuing if developmental patterns do not prove to be normal.
We should make note that the child's mother was only 16 at the time of birth, and that isolated sporadic septo-optic dysplasia is associated with early maternity. Thus it could be an isolated nonsyndromic event, but close follow-up is indicated because there are some other suggestive signs of dysmorphism and we would not want to miss the opportunity to detect early any signs of disordered developmental patterns. It is, however, recognition of her current favorable pattern and the possibility of a nonsyndromic event that leads me to offer no genetic test at present.
Since we do not have a final diagnosis, we cannot know the actual recurrence risk. It might be less than 1% (associated with a sporadic event), but is also could be as high as the 25% that is associated with autosomal recessive inheritance. Consequently, we should assume the latter until or unless we can disprove it as our hypothesis.
Sunday, September 8, 2013
I haven't blogged in awhile. You ask why now? Well I'm up at this ungodly hour.... 5:00 am. Troy has been up on & off crying all night, which has made for a very long night. The night before wasn't much better. Now shots played a major part in his lack of sleep Thursday night. He ran a fever most of the day & was just not up to being his perky self. We did manage to keep his temperature under control & escaped a trip to the emergency room. I was nervous though that we were making the right decision.. I opted on giving him a double dose of the cortef & giving him liquid tylenol. Within an hour his temperature dropped from 101 to 99. Then we kept checking it every hour.
Troy seen Dr. Curry on 9/4th for his well child visit. He also received his 2nd set of shots. He now weighs in at 15 lbs 4 oz & is 26" long. He now is in the 18th percentile for weight & the 40th percentile for height. Definitely an improvement from his last visit on 6/17th in which he weighed 11 lbs13 oz & was in the 12th percentile for both. We didn't hear any more talk about him taking growth hormone much to our relief. So,overall he seems to be doing very well.
He continues to reach his milestones. He rolls everywhere & it is hard to keep him contained to one little area. He has discovered his hands & feet & can be seen quite frequently playing with them. Changing him has become a struggle as he tries to roll away from you & dressing him is like dressing an octopus. In every way Troy is developing like a typical 5 month old baby except he is legally blind. So far I don't see any improvement in his vision but am optimistic that his sight will improve as is the case with many children with SOD.
Troy seen Dr. Lebel a genetics doctor on 18th. I will try to post the results of that doctors visit shortly.
Patty
Mimi to one special little boy Troy
Troy seen Dr. Curry on 9/4th for his well child visit. He also received his 2nd set of shots. He now weighs in at 15 lbs 4 oz & is 26" long. He now is in the 18th percentile for weight & the 40th percentile for height. Definitely an improvement from his last visit on 6/17th in which he weighed 11 lbs13 oz & was in the 12th percentile for both. We didn't hear any more talk about him taking growth hormone much to our relief. So,overall he seems to be doing very well.
He continues to reach his milestones. He rolls everywhere & it is hard to keep him contained to one little area. He has discovered his hands & feet & can be seen quite frequently playing with them. Changing him has become a struggle as he tries to roll away from you & dressing him is like dressing an octopus. In every way Troy is developing like a typical 5 month old baby except he is legally blind. So far I don't see any improvement in his vision but am optimistic that his sight will improve as is the case with many children with SOD.
Troy seen Dr. Lebel a genetics doctor on 18th. I will try to post the results of that doctors visit shortly.
Patty
Mimi to one special little boy Troy
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