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
Tuesday, August 6, 2013
Manhattan Moon
Last week we enjoyed a dinner with the family at my cousin Kim's restaurant the Manhattan Moon on Oneida Lake. We had quite the turn-out and I was happy to get together with my family once again. There is nothing more important then family. I think we all need to stop sometimes and reflect on this. It was bitter sweet driving by Constantia Cove. I couldn't help think about all the times we enjoyed out there. I wish Uncle Mel, Aunt Betty, Uncle Dick, Uncle Bill, Aunt Mary & especially my Dad were still around to enjoy it with us. I miss them all and I have fond memories with each & every one of them.
Picture of some of the first cousins at Manhattan Moon in Constantia
Picture of the Happy Boy
Troy continues to amaze me everyday with his silliness. This picture was taken by his mommy after she was beeping his nose. He thinks everything is funny these days. He eats up all the attention you can give him. Mimi love you so much Troy Boy.
Picture of some of the first cousins at Manhattan Moon in Constantia
Troy continues to amaze me everyday with his silliness. This picture was taken by his mommy after she was beeping his nose. He thinks everything is funny these days. He eats up all the attention you can give him. Mimi love you so much Troy Boy.
Friday, August 2, 2013
FAMILY REUNION
Family has been in from California so we have been spending a lot of time with them before they head back Friday. Tricia & Tim & the family left Monday. We miss them already. I love seeing everyone but it makes me sad when they leave. Hopefully next year we will be able to fly to California to see them. It has been a few years since we have been there. Need to start saving now.
Got to go get ready for work. Troy has been up on & off all night which makes for a restless night. I am so glad its Friday. Sleeping in tomorrow....
Patty
Thursday, July 18, 2013
Genetics Doctor
Today Troy seen the genetics doctor. They didn't do any genetic testing as of this point as I guess the chances of Septo Optic Dysplsia being genetically related is extremely small. I was happy Troy didn't have to be stuck with another needle. He now weights 13 lbs 3 ozs & is 24 inches long. He is in the 15th percentile for both height & weight. I was kinda alarmed by that as Troy looks good size to me. I hope growth hormone shots are not in his future. Some more puzzling information we received today is Troy has alot of extra skin around his neck which he said they would be keeping an eye on & his ears are low set. So, he is not sure yet if anything else may be going along with this. I don't believe there is. God is still in control & I hold unto the belief that everything will be alright for him.
Troy was bubbly & happy at his appointment for the most part. The doctors commented on how active he was. He now likes you to bounce him up & down while he stands. He will laugh out loud. I love hearing his cute little voice. We dont have go back to see this doctor now until he is a year old. So yeah!!!!
Troy was bubbly & happy at his appointment for the most part. The doctors commented on how active he was. He now likes you to bounce him up & down while he stands. He will laugh out loud. I love hearing his cute little voice. We dont have go back to see this doctor now until he is a year old. So yeah!!!!
Wednesday, July 10, 2013
FIRST HOSPITAL SCARE
Monday I came home from work to find Troy with a raspy croup type cough. I hesitantly packed a few bottles & diapers & headed to the emergency room. Figured better safe then sorry. After arriving at Upstate Medical Center I parked my car in the Emergency room section of the parking lot. Pausing to stare at the sign that said 15 min parking only. We quickly gathered his belongings & headed toward the emergency room door to be greeted by a set of metal detectors & a security guard room. SIGHS!!! What is this world coming to. We half heartedly threw are belongings on a table & scurried through the metal detectors. Pausing briefly half expecting the thing to erupt in a shrilling sound. Intruder Alert!!! Intruder Alert! When nothing happened we gathered our belongings (purses, diaper bag) only to have to pass them to the security guard who quickly rummaged through them asking if we carried any weapons, nail clippers, pocket knifes, metal etc. When we passed all security points we were allowed to go to the reception area where we were able to tell a nice person the reason for our visit. I can tell she was not overly impressed when I told her Troy had a really bad cough, along with stuffy nose & congestion. I could read her thoughts as she reflected on what I said...obviously she thought we were overreacting to what was obviously a minor cold. Then I dropped the bomb shell. By the way our doctors have insisted when we visit the emergency room to state right up front that Troy has endocrine insufficiency. That perked her interest. I quickly explained that he was cortisol deficient & thyroid deficient & had billateral septo optic dysplasia. We then sat a very brief few minutes & then he was whisked into a room where he was greeted by several doctors & had a battery of test. Poor kid was invaded in every end possible. He had blood work via an IV, urine test after being catheterized, temperature taken rectally, tube shoved up his nose to see if he had the flu, thrown in some device that held him immobilized while they did a chest x-ray. Every part of my being just wanted to whisk him from there, as he screamed endlessly while they poked & prodded him. I felt so bad for him but knew it was necessary. I was alarmed when they told me he had a fever of 100.5. They quickly game him a stress dose of cor-tef & then some tylenol to bring the fever down. We sat & sat waiting for all the results to come in. I was relieved when he doctor finally said that everything came back fine & he had an upper respitory infection & was able to go home. First they checked with his endocrinologist to see how they wanted to proceed with the stress doses of the cor-tef. We were told as long as he didn't present again with a fever, just to give him his regular dose every 8 hours. We spent 6 hours in the emergency room but it was worth it all to know that it was safe enough to keep him at home. We were all dead tired but relieved to be able to bring him home.......
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