Little Girl Faces Rare Disorder | WBNS-10TV, Central Ohio's New...

No name for the rare disease? Way to go 10tv!

This is a bit confusing and interesting at the same time.

To the Collura family, as a man born and raised in Mansfield, OH, you got yourself a blessing not only for you, but for Richland County and its neighbors.

Reagan is precious! I pray the family meets and exceeds their goal!!:)

God bless you all, Mike, Dottie and family!

My thoughts and prayers are with you all at this time. I hope that the fundraiser is a success.

God Bless each and everyone of you.

Momto5 wrote:

No name for the rare disease? Way to go 10tv!

Got to agree with you. I couldn't find any mention of the disease. I have no idea what the little girl has, how she got it (I read the part about the 18th chromosome), if it's heredity, and so on....A follow up after the benefit would be nice with more info on whatever the little darling has. I hope they get everything they need to help care for her. CS

Reagan has what is called Distal Chromosome 18 Q- and Trisomy P. The rare part of this disorder is the manner in which her chromosomes are arranged which show both missing DNA and extra DNA. She has a ventricular septal defect, hearing loss, thyroid disorder, cognitive disability, autistic tendencies, Chiari I Malformation (brain surgery in May 2009 has successfully corrected this malformation), Factor V Leident blood disorder and the fatty tissue on her nerve endings never fully developed. While this disorder is considered "genetic" due to the fact that it deals with her chromosomes, we have found that it is not truly genetic. Everyone in our immediate family underwent genetic testing to determine if there were translocations in either parent and the testing showed nothing. Our Genetic Counselor from the Cleveland Clinic shared with us that this disorder occurred in the 2nd day of conception and she really is a miracle child. We feel blessed that she has chosen us as her parents. Thank you all for your support as we raise funds for a service dog that we feel will truly take the dis out of her disability!!!

Let me add to what my wife has posted. While 18q- isn't all that rare (about 1 in 40,000 live births) trisomy 18 is a different story. First, the statistics are kind of confusing (and disturbing) because it occurs in about 1 in 4000 live births but "live" is the key. More than 50% of babies with a trisomy carried to term are stillborn. If you count pregnancy loss of babies with a trisomy the stats would be very different. Finally, of those live births, only about 10% make it past their first birthdays.
Now, what makes Reagan's situation so rare is that she has BOTH a 18q-(deleted DNA) and are partial Trisomy p (extra DNA). And, to further complicate the matter, the partial trisomy p translocated to the spot where the q was missing. So in a standard karyotype, her DNA looks normal. It took a subtelomeric FISH test to find the problem. Finally, what my wife meant to say is that while this is a genetic condition, it is not hereditary (i.e. it doesn't run in the family, its not in our genes).
Reagan was born very floppy - she had very little muscle tone. She never crawled but rather "scooted," didn't walk until her 3rd year, and she still wears braces to support her ankles in shoes. She also lacks bowel control and had very severe reflux that required special formula when she was younger. She undergoes speech, occupational, and physical therapy weekly and has since 18 months.
All that being said, she's one of the lucky ones. Thank you for your interest.
http://chromosome18.org/

Okay now, don't everybody start wanting me dead or something but I have an honest question to ask.

Whey would this little girl need with a $13,000 dog, and why is a service dog so expensive to start with.

I just dont understand, so be nice, alright.

CMH Rick - I can answer part of you question. A service dog needs to be trained to deal with the complexities of this child. Not just any dog will do. I do not mean that to be demeaning to the hundreds of wonderful service dogs already out there. It takes time, skill and a dedicated trainer to have the dog ready to cope with the daily needs of this child. There is more to the entire issue than this, someone with more education and information on the subject would need to address the rest of the issues.

Dottie Collura wrote:

Reagan has what is called Distal Chromosome 18 Q- and Trisomy P.

Thank you for giving us the heads up. I'm currently in college in the Health care field. I've never heard of this disorder. I truely hope that you get the funds that you need for the special dog. Is there a fund set up at a local bank where people can donate if they want? If there is, please check to see if it can be posted on here. She is so lucky to have you and Mike as parents. God Bless.

CMH Rick wrote:

Okay now, don't everybody start wanting me dead or something but I have an honest question to ask.
Whey would this little girl need with a $13,000 dog, and why is a service dog so expensive to start with.
I just dont understand, so be nice, alright.

It's a honest question. I was also wondering the same! God bless the poor little girl!