Wednesday, December 28, 2011


On December 14th, we were able to take Daylon over to the Sleep Center in the afternoon to see if we could get him fit for a mask and take a nap.

We got him set up with a mask, and he fell asleep for an hour with it on. During that hour, they adjusted the airflow to where they needed it to be to keep his airway open. They found that he needed it at 9. So, once we had that figured out we were able to pick up our CPAP machine the morning of the 15th.

He has done really well with it. At one point, we had him on a mask that looked very similar to a fireman's mask. He loved the thought of it, but had trouble keeping it on because it was so bulky.

I talked to his respiratory therapist today. They had looked over his downloads from the last two weeks, and found that he was still having events with the flow set at 9, so they wanted to set his machine to auto. We went ahead and set it up on auto this afternoon, with it set on auto it will start at 9 and automatically adjust to where he needs it. I have been watching it this evening to see where it is and it has been ranging anywhere from 9 to 14.2. This just amazes me considering I know adults who are on 12.

Thursday, December 15, 2011

December 14th Appointment with ENT

We had our appointment with ENT and discussed the surgery to have new tubes placed and also to have his airway evaluated. That surgery is scheduled for January 12th. We will not have a time, until the day before when I call. YAY!!!

Monday, December 5, 2011

Sleep Study Results

All I can say is WOW!! and I am soo glad I followed my "Mommy Instincts" on this.

In 452 minutes of sleep 304 episodes of apnea were scored, 288 were central (meaning there was no effort), 7 were obstructive. Another 158 episodes of obstructive hypopnea were identified. Hypopnea is when there is a 30-90% reduction in airflow. The overall AHI (apnea-hypopnea index) was 52. AHI is used to determine the severity of sleep apnea 5-15 is mild, 15-30 is moderate, and above 30 is severe.

Daylon's oxygen saturation dropped significantly as low as 55% at one point. His oxygen level was below 90% for 20% of the study.

Obstructive Sleep Apnea, Central Sleep Apnea, and Hypoxemia

Have airway reassessed by ENT, and CPAP would also be a possibility.

We are not able to see ENT until December 14th, but saw Dr. T today. He does not feel that ENT is going to find anything that they can fix, so he wants to get Daylon on a CPAP if at all possible. We tried a little bit today, but he wasn't having it, so we will do an overnight CPAP titration study on January 4th.

Thursday, November 10, 2011

November 10th - Sleep Study

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.
When our techinician came in this morning I made a comment that he would do his thing as soon as we took all of the wires off, she asked me if he does that every night, and when I said yes, she said he did it last night too. She also made the comment that if they weren't taking me seriously before that they would be now. She, of course, could not tell me a whole lot, but now I am more nervous than ever to get those results.

Thursday, October 13, 2011

Running With Luci

Hi Everyone,
I wanted to pass on a message from our friend George. We were blessed enough to meet George, Mike, Jolie, and Luci, along with George's parents, while at the MAGIC Convention in July of 2010.
Aunt Anita and I sat in the front row in George's amazing testimony "It's Okay to Dream", where he told us his story of meeting Luci, running his first marathon, and tackling the Sahara Race. George is an inspiration to us all and to know that 5 more men have joined his cause to help raise money for MAGIC is wonderful!!

Dear Friends,

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 (, 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.

Donate Link:

Like us on facebook:

Documentary Trailer:

Learn more about MAGIC:

Race Website:

George G. Chmiel

Saturday, October 8, 2011

October Appointment with ENT

October 7th we met with ENT to talk about Daylon's snoring and his hearing. We were not able to complete his last hearing test because the right tube appears to be coming out.
ENT did confirm that one of the tubes is working it's way out and we will need to put new tubes in, but at this point it is too soon to do anything about it.
I showed him the video of Daylon's breathing while he was sleeping and he feels that it is positional and wants me to take his pillow away and see if that makes a difference. I feel that it does not matter what position he is in and called Dr. C to see if he could get us in for a sleep study. He is going to see what all that entails and get that set up for us.
Dr. C called me back and we are set up for a tour of the Sleep Center on October 24th. We will see where he will sleep and what all they have to hook him up to for the study.

Friday, September 30, 2011

September 30th Growth Spurt

Today, is a HUGE day. It marks the first time EVER that families, friends, MAGIC Foundation supporters and many others are all joining forces to send emails throughout the world about the importance of monitoring a child's growth. We have a very simple message which can change the lives of children as those of us with the foundation have learned first hand. (For more information go to the website here ).

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 for additional information.

Please, forward this to your friends and keep it going....a child somewhere is counting on it!


Friday, September 23, 2011

Genetic Results

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.

PAR1 Region:,,



47XYY Syndrome:,,XYY_syndrome

Monday, September 5, 2011

More Complicated Than We Thought

As we all know, nothing is ever easy with Daylon!! I received a call last week from Genetics letting me know that they still do not have Daylon's final genetic report done, because every time they think they are done they decide they should look into another part of it a little more. It is becoming very interesting and very complicated to explain, so we have an appointment on September 22nd to go over everything they've found and what it all means for Daylon. Hopefully, the final report will be complete before then. LOL!!
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

Today's GI Appointment

Daylon had his follow-up appointment with the GI today. His fecal fat study came back normal, so he does not have any malabsorption issues.
For the most part, it was a very good appointment. Daylon has not been eating well at all lately and has been refusing his Boost, but somehow still gained about a half a pound. She gave me some ideas for getting him to drink the Boost and gave me a prescription for Periactin for him. Periactin is an antihistamine that is also used to stimulate appetite. I normally would not worry too much about his appetite, but the last two days he has eaten hardly anything at all. Yesterday all he ate all day was; a waffle, 3/4 cup of applesauce, 1 bite of a chicken nugget (I gave him 4 nuggets and potato salad for lunch), and about 1/4 cup of cereal. He even refused pizza for supper which is one of his favorites. Today he had one bite of peanut butter and honey toast, about 2 Tbsp. of Applesauce to take his Prevacid with, one bite of his cheeseburger for lunch, and one bite of his jr. roast beef. He did drink down his chocolate Boost so that is a good thing, but it is still not enough calories for a day.

We are hoping that the Periactin will help stimulate his appetite and get him to eat more. As it is right now, he has absolutely no fat on his little bones, which makes it very difficult to give his growth hormone shots. We see the GI doctor in a month and will go from there.

Monday, August 8, 2011

Results from Our Week of Tests

As you all know we had a week full of testing a couple weeks ago, and we received our results on Friday so I wanted to pass those on to you.

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

A Crazy Busy Month...

Just wanted to give you all a quick update. It has been and continues to be an extremely busy month for us.
On the 6th, we took Daylon in to the pediatrician to see if we could get into an allergist. He was having a weird reaction (almost looked like hives) anywhere his bm touched and some other GI things (which he has always had) that made us think of allergies or GI issues. She referred us to the allergist.
We saw the allergist on the 11th, he did not feel that it was allergy related but went ahead and tested him for 9 food allergies and 16 environmental allergies. All came back negative but he felt that with D's constant runny nose and occasional dry cough we should treat it and see if we can get that resolved. So, he prescribed a daily dose of Claritin, and an albuterol inhaler for the days he has the cough, and referred him to a Gastroenterologist to go over the GI issues. We were very excited to see the GI, because it is something that we felt should be done also.
We saw the GI specialist on the 15th, and she felt that Daylon has enough going on that we should run some other tests that have not been run before. So, on the 25th Daylon will have a Gastric Emptying Study, on the 27th he will have an Endoscopy, and on the 29th he will have a sweat test to rule out Cystic Fibrosis. In the meantime, she has put him on 2 boxes of Boost a day.
Daylon had his Endocrinology appointment on Thursday and he is doing GREAT!! He was 34 7/8 inches and 29 pounds. His height may have been a little off because he was not cooperating well, but this puts him between the 1st and 3rd percentile for height and 25th percentile for weight. I asked our endo about his weight, because of the GI's concerns and he told me that we could give him the Boost on the days when "his attitude is bigger than he is and his halo turns into horns (when he refuses to eat) otherwise consider him boosted." We also asked how long Daylon will need the growth hormone shots and what would happen if we took him off of them now. He said that Daylon will be on the shots for another 10-12 years and that if we were to stop in the near future it would be like going from here to Chicago and stopping in Denver, on the right track but we have to keep going to reach our final destination. So it looks like we have years of this ahead of us. He did say that he doesn't think Daylon's other issues are related to the growth hormone axis deficiency.
On the 7th we did hear back on part of the genetic testing that he had done. His testing for RSS came back normal, which we knew would most likely be the case. Now, we are just waiting on the Microarray results. Hopefully we will get those soon.
Thankfully Auntie N. came back from Missoula with me, so she can watch the girls while Daylon and I are doing his testing this week. It will be a very busy week for us.
Thank you all for your support, it means the world to us!!!

Wednesday, June 22, 2011

The Waiting Game Begins Again.

Last week we had our genetics appointment. Not a whole lot to report yet, other than that Daylon is on the 5th percentile for both height and weight now, and his head circumference is in the 10th percentile.

There are some specific tests that they are running, most of which are too technical and involved to go into at this point. If the tests reveal a genetic issue, I'll try to explain that specific issue in a future blog.

They did say that it is possible that the neutropenia and short stature are not related at all and that he could just be growth hormone deficient. Granted not classic growth hormone deficiency, but growth hormone deficient on some level.

So, Daylon and I both had our blood drawn and now we get to sit and wait for 3-4 weeks for the results. Once the testing comes back we will decide where to go from here. It may involve more testing and it may not, but at least we are finally on the road to getting the answers that we need as to why Daylon is the way he is and can prepare for any obstacles that we may or may not face down the road.

At least we know for a fact that the growth hormone is helping.

Wednesday, June 1, 2011

Wonderful News from Cardiology!!

We had Daylon's cardiology appointment yesterday and all went great!! He does have a murmur, but it is an innocent murmur called a Still's Murmur. Nothing to concerning, two of my cousins have Still's Murmurs and they are doing fine!! The doctor also did an EKG and that was normal as well. So, now we don't have to go back to Cardiology and we can rest easy knowing that the murmur is nothing serious and his heart is fine!! Praise GOD!!!

Love to all!!

Monday, May 30, 2011

Update from Daylon's Surgery & Well Child Appointment

Daylon had his surgery on the 19th for new tubes. It went extremely well!! No blood sugar issues, and came out of anesthesia smiling. Such a wonderful sight!! I did ask Dr. B about the breathing/snoring Daylon has been doing at night, and he said that adenoids can grow back and that may be the problem, so we will keep an eye on that.

On the 20th Daylon had his 3 year old well child visit. He was 26 pounds 2 ounces and 34.5 inches long!! He has made it onto the charts! His weight is right on the 3rd percentile, height is just below the 3rd percentile, and his head circumference is in the 10th percentile at 47cm. He looked in his ears and commented that they usually have blood clots around where the tubes are placed, especially the day after surgery, and he did not see any. He said that Dr. B did an amazing job!!

At our well child appointment, we found out that Daylon's murmur that was heard in March has changed. He commented that innocent murmurs are high pitched and the murmur he heard on the 20th was not at all what he was expecting to hear based on his notes from his last visit. He said that innocent murmurs don't change and he wants us to take Daylon to a cardiologist.

We will see Cardiology tomorrow morning. Hoping and praying for answers!!

Thank you all for your support.

Monday, May 9, 2011

Update from our ENT Appt.

We had our appointment with the ENT on Friday.
Daylon definitely needs new tubes, so he is scheduled for surgery on May 19th. The plan is to use a different kind of tube this time, called a Touma T-Tube. They are shaped differently and should last longer. Apparently they work similar to a toggle bolt, anyway that's how he explained it to me.
I discussed my concerns about Daylon's blood sugars while fasting and he said that we would monitor it before and after surgery. I called his endocrinologist's office today to see what he wants us to do for the surgery. Daylon's blood sugars for his last surgery were 80-something pre-op and 201 post-op, so I want his take on what that means and what he wants us to do to prevent the high. Unfortunately when I called Dr. S' office today, he was out of the office and so was his nurse, so I have to call back tomorrow. The recommendations from Dr. H are that with any surgery for an SGA child to run D-10 IV, but when I tried to get them to do that for the last surgery they wouldn't because it was such a short surgery. My hope is that I can get the endocrinologist in my corner on this one and push for the IV.

Today we had Daylon's IEP meeting for preschool in the fall. We went over his testing results and the only area that he isn't low in is Motor Skills. He is -2.47 standard deviations from the standardized score in Communication, -1.47 in Adaptive, -1.40 in Personal-Social, and -1.33 in Cognitive, and +0.47 in Motor Skills. In order to qualify for Special Education programs, including preschool, he had to be -2 standard deviations in at least one area.
What do all these numbers mean? Essentially in Communication he is scoring at a 14 - 23 month old level, Adaptive is at a 21 month old level, Personal-Social he is scoring at a 22-28 month old level, Cognitive is at a 24-27 month level, and Motor Skills are at a 34-41 month old level. He was 35 months old at the time of testing so that gives you an idea of the amount of delay he has.

Thursday, May 5, 2011

Latest Endocrinology Appointment & Other News

Our last appointment in Missoula went great!! All of Daylon's labs are looking good, and his bone age is appropriate. All great news!!
Even better news is that in the three months since our last visit Daylon has gone from 33 1/4 inches to 34 3/8 inches and gained a pound, up to 26 pounds. With this growth he has officially made it onto the charts!! He is now between the 1st and 3rd percentile!!
Dr. S. is very satisfied with his growth and has increased his growth hormone dosage from 0.6 mg daily to 0.7 mg daily.
Most of the time he does really well with his shots. Once in a while he pitches a tiny fit, but gets over it quickly.

In other news. Daylon was tested to see where he was at developmentally. Depending on where he scored he would qualify for the special needs preschool. We will get the full results on Monday, but we did find out that he qualifies in speech and is close to qualifying in a couple of other areas. So, he still has quite a bit of developmental delay in speech and some delay in other areas. I'm not sure yet what areas. I will fill you all in after our meeting on Monday.

In mid-April we had Daylon's hearing tested and both ears were refer. He failed for sure in his left ear and his right ear said pass on some and refer on others. So, we had an appointment with the PA in our ENT's office last week. She said that it looks like the tube in the left ear is out and laying sideways in the ear canal, leaning on the ear drum. She said that he also has fluid behind that ear drum too, and is unsure what Dr. B will decide to do given D's history. She is having us try Nasonex nasal spray, until we see his regular ENT tomorrow. I have a feeling that we will find out tomorrow that he is going to need another set of tubes, but we will see. I guess we never know for sure, until after we see him.

We plan to see genetics again in June to look into further testing. With his growth problems, blood disorder, ear/hearing problems, sensory processing disorder, developmental delays and other issues, we would like to find out why and if any other problems could arise later.

Update on the labs drawn in regards to the murmur. All labs came back normal, for the most part. He does still have neutropenia, but is not anemic. Dr. C does feel that the murmur is just an innocent murmur. Hopefully when we see him this month for his well child check up, we will find out more on the murmur, and if not there, possibly from genetics.

Friday, March 25, 2011

Doctor's Appointment Today

We went in to see Daylon's pediatrician today to get the labs drawn for his endocrinology appointment on the 15th of April. He is 33 1/2 inches and 25lbs. 4oz.
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

Checkup with Dr. C.

We took Daylon to the doctor today to see if his ears were infected again or what the deal was, because he is pulling on them so much. His ears were clear, so apparently no real reason for him to be pulling on his ears.

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

Exciting News!!

I know all of you have heard me talk about RSS or Russell Silver Syndrome and how it is very similar to Daylon's diagnosis. They have a lot of the same symptoms and are treated the same.
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

A Little News From Here

The last two weeks have been pretty busy!
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.

We are still seeing a speech therapist weekly to work on Daylon's speech and thankfully, he is starting to talk much more than before. We are also seeing an occupational therapist for his sensory processing issues and they seem to be getting better, except when he is tired. His weighted blanket that I made him works wonders. You would not believe the difference it makes in him unless you saw it for yourself! A wonderful website to reference on Sensory Processing Disorder is It has a checklist and several other resources about it. Interesting reading.

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.