My husband and I first met in the fall of 1997. Three years later we were married in a small ceremony in Eugene, Oregon(my home town) on October 8th, 2000 . My husband was born and lived in Toronto, Canada where we made our home. Since we were both "older" when we got married, 39 years old both of us, we decided if we were going to have any children we better try right away. Well....right away was what happened! Katie was born August 17^th 2001.

I had an amniocentesis done at 17 weeks gestation and we were told about 10 days later something was found. After additional testing the Genetic Doctor met with us and informed us that the extra "marker" chromosome had highlighted on a FISH test as the P arm of either Chromosome 13 or 21. We were told

at the time that since there were 5 chromosomes (acrocentric) that the P arm was the same and 13 and 21 were part of that group we should be ok and at a very low risk of any problems. So we continued on, I don't believe we would have done any differently even with what we know now was the truth.

Katie was born screaming loud! She was small at 5 lbs. 14 oz. but seemed healthy. She did have some feeding issues in that she projectile vomited right from the beginning to the degree they placed her in NICU and put in a NG tube to feed her as she had some pretty intense jaundice and they wanted more fluid in her. After a few days the jaundice subsided and we went home. Katie was still difficult to feed with the vomiting and with trial and error and help from our doctor we discovered if we thickened my milk with a rice formula and I bottle fed her she did better. Over the months she continued to do well but was always below the 5^th percentile for weight. Our doctor started to question whether something was wrong when Katie was about 9 months old and then at her 12 month checkup and she was still not sitting independently our doctor became very worried and sent us for another genetic workup and an MRI.

A little over a month after Katie turned 1 brother Alex was born a whopping 9lbs. 1oz. Completely healthy and not that much smaller than Katie.

The MRI was a several month wait and the genetic test was several month wait after that. Finally when Katie was about 27 months we got the results, Her MRI looked good but the Chromosome analysis showed something very different than was found on the Amnio. Katie had Tetrasomy 18P or also called Isochromosome 18P.

The first FISH test it seems had done something that almost never happens and lit one of the chromosomes it should not have. It gave a false positive! Or rather it gave a positive just not on the right chromosome. So the lessen here is NO test is always right!

We did learn at this time too that Katie is Mosaic, meaning that only a percentage of her cells are affected, but at a high rate of 85% in her blood. Katie seems to be about moderate in the effects this syndrome has on her. I would say about average. She is ahead of some others in areas and much worse than others in areas. For example, her gastrointestinal system is very very bad. Difficult to manage but we are a testament that it can be done as she is thriving.

Flash forward and we are still in Toronto although my husband and I have recently separated.

I am a stay at home mom, seems that every month someone is sick!

We have had some pretty major health scares with Katie, she had several bowel obstructions and ambulance rides but we now have that mostly under control with the help of a wonderful Pediatric Gastroenterologist.

She was in the hospital for a whole week a year and a half ago for what turned out to be amazingly enough the simple cold sore virus, herpes simplex 1. It took over her little body and she had huge sores inside her whole mouth down her throat and all over her face. The doctors say this sometimes can happen when kids are first exposed although rare it does happen. She has not had an outbreak like that since and they say she shouldn't and any further outbreaks should be the more normal 1 or 2 sores which so far has been true.

This year has been a good one and no major hospital stays.

We have found with Katie's isochromosome on 18 that we need to be very proactive where her health is concerned. As long as we make sure if we suspect her getting ill we don't let it go very long. We can catch things before they progress to a more emergency state. Still we find and we think this is because of the medication she is on for constpation, she dehydrates very quickly, so I make sure if I cannot get her to drink anything we get to the hospital as quickly as possible. Every time we have been right too! Lesson here parents, go with your gut instinct!! If you 'feel' something is not right get it checked!
Act! Act! Act! Dont wait, the most you risk is having them tell you your child is ok! Some have said that may be a bit of over reactive attitude, but we have been right about her every single time even when the ER doctor kind of scoffed initally. You must advocate for your child and be as tough as nails.

Katie does extremely well most of the time and is speaking up a storm now. She has a very very good understanding of what we are saying and is being more creative with her language. Her difficulties are still with the oral motor and as such we work a lot on her putting different sounds together slowly and then a bit faster each time until they come out clearly all the time. She is one smart cookie! She catches on very fast when she wants to!!

Katie turned8in August and Alex 7 in September. Both kids are doing well and in school.

Katie knows her alphabet and can read a 3 word sentence. Although motor control and speech are still issues along with a pretty severe case of ADHD, Sensory integration dysfunction and some very minor seizure activity.

Alex is doing extremely well too and is reading simple readers and loving school. Both kids are addicted to the computer and love playing the educational games Gord put on it.

Katie was small until she was about 2 and then started catching up on the charts, She is now just about the 68^th percentile for weight and 65^th for height. Alex is above the 94^th for height and 94^th for weight.

Both kids are very happy and other than the viruses they bring home from school monthly healthy.

We have been able to take some road trips the last few years and hope to expand and travel more in the years to come.

If you would like to share your story please email it to me and I will post it for everyone to read!!

Take care and we hope you enjoy our website!!

Lorrine, Katie and Alex