We live in Columbus, Indiana. I'm 30 years old and my husband Patrick turned 30 in January. We have two children, Olivia and Hannah (4 months).
Olivia is 4 years old. She turned 4 in January as well. I had an uneventful pregnancy and was delivered full term. She was only 5lbs 9.5 oz and 18 inches long. She was born with a birth defect called an imperferated anus. There was no opening in her rectum. At 2 months and 4 months old she had corrective surgery. She was fine after that. At 5 months of age we moved to Rochester, New York because my husband's job took us there. We found a real good pediatrician and started all the usual well baby checkups. At 12 months of age she barely was crawling, only about 15 lbs, wasn't talking, feeding herself, etc. The pediatrician recommended we start some developmental testing on her, my husband and I both agreed to wait til her 15 month check to see if she improved, we convinced ourselves that she had a rough start at birth and she just needed to catch up. At the 15 month checkup, she didn't improve on any of her skills. We decided to go ahead with trying to find out why she wasn't developing properly. We had urinalysis tests, X-rays, MRI's, blood tests, etc., every test came back normal. At this time we suffered our first miscarriage. Finally our pediatrician suggested that we go to a developmental specialist and start there. After much interviewing and going over Olivia's history, he decided to do a blood test (chromosomal analysis). After one month the test diagnosed Proximal 10 Q Partial Trisomy. Her 10th chromosome had an extra piece to it. We were sort of relieved but devestated at the same time.
The doctor told us this was very rare. There was no known cases in the United States currently. She has a life span like any other child but the characteristics of the syndrome included small features, low birth weight, poor growth, and developmental delays. Olivia had/has all that. After her diagnosis (June, 1995) Patrick and I had a blood test taken to determine if one of us were a carrier, both of us tested negative which was great because we wanted more children and had already suffered one miscarriage.
We started Olivia in home therapy services. She received speech, occupational, physical and developmental therapy. She walked right before her 2 year old birthday, didn't get her teeth until she was almost 2 years old as well and the molars came in first!
In March of 1996, we decided to move back to Indiana and that's when I suffered my second miscarriage. We moved back and continued home therapy until she turned 3.
After finally settling in our home we decided we wanted more children. During this time we went to the I.U. Medical Center for genetic counseling. After much interviewing it was determined that Olivia's syndrome was started at conception and not from one of us. There is such a rare chance that a sibling would be born with the same thing, but I was also concerned because of the miscarriages. They told us that is a whole separate issue and its very common to have 2 miscarriages nowadays.
At the present time, Olivia is in a special needs preschool and rides the bus to school, thats the highlight of her day. She had to go into a center-based facility when she turned 3. It is a wonderful program. She also receives speech and physical therapy there as well. She has a developmental delay of about 2 years with some scattered skills a little older. She feeds herself, rides a tricycle, and talks in about 3-4 word sentences. At this time she only weighs about 30 lbs and is about 3 1/2 feet tall. She's never been on the growth chart for weight but the doctor says shes growing at her own pace. She has no physical deformities, (a characteristic of this syndrome) except for a small curvature in her left foot that she had to wear corrective shoes when she was learning to walk. She eats everything and loves to read books. She is a very loving child but it seems she is starting the terrible two temper tantrums at the age of 4.
She is still very thin, about 30 pounds but very active. After a lot of prayer and thought, we decided to put her on medication for her hyperactivity. We started the medication two weeks ago. She is constantly moving, I'm sure that has alot to do with her sensory needs. The therapists told us she needs the stimulation. She is currently on Risperadol. She is taking a very low dosage. Haven't noticed much progress yet. It does increase the appetite though. She probably won't put on much weight due to the syndrome, poor growth.
I can't believe the progress we've seen in the last couple of years. She is such a blessing to us.
She is still on Risperdol. It has helped her slow down and focus more. Her weight has increased alittle too due to the medication, she's now 35 pounds. She is now in a 1st grade mild/moderate classroom. Her progress is slow but her speech has improved and she can identify all the letters of the alphbet!
|Birth Date||Jan 1994|
|Diagnosis||Proximal 10q Partial Trisomy|
|Parents||Patrick and Stephanie McKinney|
|City||Columbus, Indiana. USA|
|mckinney93[at]comcast[dot]net (change [at] to "@")|