Wednesday, December 28, 2011
Thursday, December 15, 2011
Monday, December 5, 2011
Thursday, November 10, 2011
We went in for our sleep study last night. It took about 30 minutes or so to get him all hooked up to the machines. Within half an hour he was asleep and five minutes later he was snoring.
Thursday, October 13, 2011
As many of you are aware…this November 20th...6 of us will be embarking on a 155-mile quest through the Himalayan Mountains in Nepal to directly support children with growth related disorders. This is very personal to me as my goddaughter Luci Horvath was born with panhypopituitarism. Every day is a fight for Luci but she is one amazingly strong and courageous little girl that inspires us all.
To make a permanent and lasting difference we have founded RWL (www.runningwithluci.org), a team of amateur endurance athletes dedicated to supporting Luci and thousands of other children across the country suffering from similar conditions. There is a lot misinformation in the medical community and the media and these families often face significant hurdles in getting proper treatment for these children. Fortunately there is an organization called The MAGICFoundation that plays a major role helping these families. RWL will be raising money for the MAGICFoundation to help these families deal with the day-to-day struggles. We have also been shooting a documentary over the course of the year to bring broad attention to these disorders.
I'm very proud of the incredible dedication and courage of my five teammates. This is a significant challenge for even the most professional of runners…let alone a group of backyard athletes like ourselves. I humbly ask that you support us in anyway that you can…either by following us on facebook, spreading the story, sending us words of encouragement or making a monetary contribution. It all goes a long way and will immensely help my five teammates as they attempt to tackle their first major ultramarathon. As always…thank you so much for any and all support. We (and more importantly the children) greatly appreciate it. GC.
Like us on facebook:
Learn more about MAGIC:
George G. Chmiel
Saturday, October 8, 2011
Friday, September 30, 2011
Please forward this message to everyone you can because somewhere....(maybe through you directly, or your friend, or your friend's friend) but somewhere.....a child is depending upon this information reaching his/her family or caregivers.
Is your child growing normally?
What if they grow too little or too fast? Is this important?
How much a child grows is a major sign of his or her overall health.
Health problems ranging from nutritional disturbances and hormone imbalances to serious conditions such as unidentified kidney problems or even brain tumors can all exhibit early signs by changing how much that child grows.
This simple information may make the difference in getting a child diagnosed with enough time left to make a difference in their lives.
If you are concerned about your own child, please visitwww.magicfoundation.org for additional information.
Please, forward this to your friends and keep it going....a child somewhere is counting on it!
Friday, September 23, 2011
We found out on September 22nd that Daylon has an extremely rare genetic cause for his small size.
I have been trying to figure out the best and easiest way to describe what it is that they found in Daylon, and have had an extremely difficult time trying to figure it out, so it has taken me a while to write this post.
I thought of scanning in the letter we received from genetics, but it would be difficult to read because I would have to upload it as a picture and it would be very small. So I am going to take the genetic lab results and explain them to the best of my ability.
Daylon is mosaic meaning he has more than one cell line. Normally we have one cell line, 46XX for women or 46XY for men. Daylon has 3. He has one normal line and two other abnormal cell lines. The first abnormal cell line is 46X with an inverted duplication of the Y chromosome. The second abnormal cell line is 47XY with a marker gene that contains more Y material. The next paragraph will be typed out exactly as it appears on the microarray report.
Daylon has a duplication of part of the Y chromosome extending from the PAR1 (psuedoautsomal region 1) to Yq11.221. The PAR1 region normally appears disomic in males on the X chromosome by cytogenic array. Daylon appears to have three copies of the PAR1 region in addition to gains on the Y chromosome, suggesting a large duplication on the Y chromosome. Included in the PAR1 duplication is the SHOX gene which, when deleted or mutated, has been associated with short stature. However, there is at least one report in medical literature of a patient with trisomy of the SHOX gene having short stature.
We were told that the best "syndrome" to look up for Daylon is 47XYY syndrome, but to remember that not all of his Y chromosome is duplicated and not all of his cells contain the duplication. While most children with 47XYY are tall, the thought is that with Daylon's duplication where it is, it has interrupted a signalling pathway and turned off his SHOX (or growth) gene.
I will include links for the information on what the different abbreviations and genetic information all means.
Monday, September 5, 2011
Once we have that appointment, and go over everything, hopefully, I will be able to explain it to you all. I don't want to try to tell you until I understand what they are trying to tell me. The only thing I know for sure is that whatever they are finding, they have reassured me that it will not shorten his life expectancy.
Friday, August 19, 2011
Monday, August 8, 2011
Monday we had Daylon's Gastric Emptying Study. That went well, aside from being the longest hour of our lives. They fed Daylon some eggs that had something in them that reflects on x-ray (I think it was radioactive), after he ate them he was strapped to the x-ray machine board for an hour while the machine took an x-ray every minute for an hour. This test showed a normal gastric emptying time. Normal half-time emptying for a male is 50 to 60 minutes and Daylon's was 51. Yay!!
Wednesday's Endoscopy showed that Daylon's stomach was a little red and inflamed. They took biopsies of his esophagus, stomach lining, and the top part of his bowel, and also suctioned some juices from his bowel to test for different bacterial infections. The biopsy from his esophagus showed that he has reflux and needs to be on meds for that, so he will be starting a twice daily dose of Prevacid. The biopsy of his stomach showed chronic gastritis and was positive for H. Pylori bacteria. Daylon will have to be on high dose antibiotics for 10 days to kill this bacteria. He is taking 500 mg of Clarithromycin and 1000 mg of Amoxicillin a day. All of the tests they did for bacteria in the bowel juices were negative. While our GI was doing the endoscopy they went ahead and took some blood to run some other tests as well. They tested him for Celiacs, which was negative. A metabolic panel and CBC were also done, along with some other tests that we aren't really sure what they mean right now.
Friday's Sweat Test came back Normal, which rules out both Cystic Fibrosis and Schwachman Diamond Syndrome. Another YAY GOD!!!
In the midst of all of this we got the call from Genetics that Daylon's Microarray is showing something. What they found has never really been seen before so we are not sure what it means. They found that Daylon has a partial duplication of his Y chromosome that involves a gene that controls growth. He has more of this particular area of the Y chromsome than he needs, which would usually result in a bigger child and more growth, which makes Daylon's case odd also. They think it is possible that the duplication is close enough together that it is turning off that gene. We still don't know much about what this all means for Daylon. They are running more tests to confirm the duplication and then we will meet with them to go over all of the results and also find out from them what this all means and how he could be affected, along with what it is impacting now.
Saturday, July 23, 2011
Wednesday, June 22, 2011
Wednesday, June 1, 2011
Monday, May 30, 2011
Monday, May 9, 2011
Thursday, May 5, 2011
Friday, March 25, 2011
His doctor decided to check his ears and look him over. His ears looked good, although the left one has a bit of dried wax in it. In the process he found a murmur. D has never had a murmur before, but has always turned blue around his lips when crying and then has the reflex anoxic seizures. His doctor thinks that with the growth he may be anemic and is doing a blood count, etc. So, now we wait. I asked him if the murmur was something that could have been hiding and he told me no that it's either loud enough to be heard or it isn't there. Just wanted to share and ask that you keep Daylon in your prayers, that this is just an innocent murmur and not one revealing a heart problem.
Monday, February 21, 2011
While we were there Dr. C asked what Dr. S thought of Daylon and if there was anything new going on. I told him what Dr. S. said about wondering if growth hormone is the right medication for these kids that are born small, or if increlex (IGF-1) is the better medication, and that he wants to keep him on the growth hormone for a year to see how he responds to it before deciding if he should change him to the other medication. Dr. C's response was, "Well that's something new." LOL!!
Thursday, February 3, 2011
Mystery Diagnosis just did a segment on RSS!!! How exciting!! We watched it last night and I teared up through the entire thing because this family's story is so similar to ours. Daylon & I also had the chance to meet the Getch Family (the family that this segment is about) at The MAGIC Convention last July!! They are such amazing people.
The episode is airing again on Sunday at 10:00 AM, MDT on the OWN Network. Just wanted to give you a heads up and ask that you watch it!!
Thank you & love you tons!!
Wednesday, January 19, 2011
Daylon had his followup appointment with the ENT and the appointment with our new Endocrinologist. The ENT appointment went well. His ears are looking great!! YAY!! One less worry. He is fighting a bit of a cold now, but with the doctor's recommendation with the Neosporin, we will hopefully be able to keep it from turning into an ear infection.
The new Endocrinologist is GREAT!!! We are so happy with him. He validated my concerns and was very professional about everything. He commented that he was always curious whether growth hormone is the best medicine for these kids that are born small, but he wants to give Daylon a year on the growth hormone before we decide to try an alternative treatment(possibly Increlex). Right now, Daylon is still following about the same curve he was before we started the growth hormone, so I guess time will tell. He is up to 33.25 inches long and 25 pounds, which is about 3 pounds heavier and 2.75 inches taller than when we saw Dr. Harbison at convention in July. He changed Daylon's dose from 0.5 mg six times a week to 0.6 mg daily and will see him again in April. He also ordered a few tests to be run before our next visit. The tests include IGF-1, IGFBP3, a bone-age x-ray and thyroid function, which he requested be sent to a lab in CA, because they give much more accurate results than the lab that was previously used.
Next week we have our meeting with the school district and STEP to set up testing to transition from the services he's currently getting to Part B which, if he qualifies, would put him in the 3 year-old special needs preschool. So, all three of my babies may be in school next fall.
Thank you all for your support.