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.

Diagnosis:

Obstructive Sleep Apnea, Central Sleep Apnea, and Hypoxemia

Plan:

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.

Sleep apnea definition: http://www.mayoclinic.com/health/sleep-apnea/DS00148/METHOD=print

Hypoxemia: http://www.mayoclinic.com/health/hypoxemia/MY00219

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.

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 (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.

Donate Link:
https://www.magicfoundation.org/www/docs/1008.1886/

Like us on facebook:
www.facebook.com/RWLuci

Documentary Trailer:
http://vimeo.com/26934026

Learn more about MAGIC:
http://www.magicfoundation.org/www

Race Website:
http://www.4deserts.com/beyond/nepal/

George G. Chmiel

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.

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 http://www.magicfoundation.org/www/docs/1060.2029 ).

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!

Thanks!

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: http://ghr.nlm.nih.gov/glossary=pseudoautosomalregion, http://en.wikipedia.org/wiki/Pseudoautosomal_region,

Disomic: http://www.merriam-webster.com/dictionary/disomic

SHOX:http://ghr.nlm.nih.gov/gene/SHOX, http://en.wikipedia.org/wiki/SHOX,

47XYY Syndrome: http://ghr.nlm.nih.gov/condition/47xyy-syndrome, http://en.wikipedia.org/wiki/47,XYY_syndrome

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.