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.