Lillie
Partial Trisomy 16p+
My husband and I miscarried at eight weeks along in Jan,1995. We tried to conceive for the next year with no luck. We then looked into some infertility testing. I was put on clomid to help with a ovulating disturbance. Quickly another year passed. It was getting to be too much emotionally,we were ready to give it completely to the Lord. Sept. 2000 we were blessed again! We found out that we were nine weeks along! God is good!
My pregnancy was pretty normal until the last trimester.The doctor became concerned with the amount of amnio fluid and high blood pressure. A stress test was performed due to our babies heart beat. Sonagram revealed our Lil Angel Lillie to be a complete breech. Due to all of this Lillie was a scheduled c-section. Born March 22, 2001 our 4lb 2oz lil angel was here! Praise God!
Lillie Elizabeth was taken immediately to the nicu unit due to respitory difficulties.This is where one thing after another was being discovered. Heart Murmur, cleft palate, 3vsd, asd, pfo, microcephaly, meconium plugs in the large intestine. Enema's were given every six hours to help move the meconium plugs through the intestines. On Lillie's fifth day of life her bowel perforated. She was flown by life flight to Peoria for emergency surgery. We were told we could'nt accompany her on her flight but were given directions for our two hour drive. Before departing, Lillie went into shock. The nurse told us "your baby is very sick and may not make it".
All we could do was to put our trust in the lord.
After arriving in Peoria Lillie's life flight nurse came out to let us know that Lillie stopped breathing right before they got her onto the helicopter. That explained why it seemed so long to watch the helicopter depart. She said that we would be meeting with a surgeon (Dr.Richard Pearl ) to discuss the surgery that he would perform. It was truly a blessing to be able to sit down with Dr.Pearl. He left us feeling very confident that everything would be okay. Recovery was very hard for Lillie. Respitory,feedings and holding her own temp were also issues. So many test's,so many specialist's, countless genetic testing revealed trisomy16p.
We were told there were only seventeen cases ever known, but none to be found. So as far as to what her prognosis would be it was unknown.
We were told she could have mild to severe retardation, and the cleft palate was associated. What made Lillie's chromosome disorder so unique was not only did she have an extra p-arm on the sixteenth chromosome, but was deleted for a piece of the p-arm on the eighth chromosome. So our journey begins.
To date(Nov 22, 2002) Lillie has had five surgeries:
- 3-27-01 bowel repair,colostomy,appendectomy,biopsy of rectum.
- 4-25-01 nissenfundoplication,gastostomy tube.
- 7-25-01 colostomy take down.
- 9-5-01 pyloroplasty
- 2-11-02 tympanostomy/tubes,z- plasty(floor of mouth) cleft palate repair.
We recently have been evaluated with an eye surgeon which found Lillie to be farsighted bilaterally.She will be fitted for glasses in the spring.
The doctor was also concerned with the optic nerve, both appeared to be significantly abnormal. Due to this we have been seen by a plastic surgeon & neurologist. We are still awaiting results. Lillie has delays in all areas. Her feedings are mostly through g-tube, although she is making some progress orally. She is followed closely by Dr.Pyevich for dysplasia of hips. As well as her pediatrician Dr. Khoury which we would be lost without.
Developmentally overall Lillie is around a six month stage. She doesn't sit, but enjoys being on the carpet with her toys. Lillie is a very happy baby. Loves to giggle with daddy, imitate kisses with mommy and stare into her brothers big beautiful brown eyes. We are so blessed to have her. She has taught not only us but all who have touched her life so much! We pray daily to keep her and ask that you say a prayer for her too. She is truly an angel on earth.
UPDATE APRIL 2003
Our Sweet Lil Angel Lillie Elizabeth just turned two March 22. She is becoming quite the Lil toddler everyday, busy Lillie! She is now leaving the area rug in the living room (Her play area) and exploring. Rolling from room to room! Kicking off the walls or table etc...to get to where she wants to go. We have wood floors through out the first floor so she is now known as "Our Lil Dust Bunny". Mommy must say she is a cute Lil bunny!
Lillie is now pushing herself up into a sitting position. After she gets herself into a (sitting position) she is bravely taking up her hands and sitting with no support for a short period of time. Hooray for you Lillie - you amaze us everyday!
We have had several tests and followup Appts since our last NewsLetter. Lillie had a MRI done 10-25-02. This was done after being refered by her Pediatric Eye Surgeon. Lillie was found to be farsighted bilaterally, left eye being worse. The optic nerve bilaterally showed significant abnormality.The results of the MRI showed no sign of abnormality of the optic nerve. Findings did state Brachiocephaly with no midline or other abnormalities? I must say I was a little confused with the findings but was very happy to hear surgery wouldn't be neccesary.
Lillie will be fitted for glasses next month ( Dr. Fredricks). This will definitely be a challenge for us. But I can't wait to see her in her glasses. She will be so...adorable! Our last visit to the Orthopedic office (Dr.Pyevich) turned out to be a good one. He says Lillie's hips are looking a little better (dysplasia) and we only need to follow up every six months. We love good news!
We had our first visit to the Dentist. Lillie's Pediatrician Dr. Khoury (Whom We Love Dearly) refered us to Dr. Brandtner (Pediatric Dentist). Dr. Khoury and I were sure Lillie had a cavity but it turned out that there were no cavities. Mommy was so...proud of her she sat through the Appt like a Big Girl!
Lillie continues to be challenged with her feedings daily. She still has a delayed swallow and takes very little orally. We are currently using the Kay Tooley Method to help Lillie with her feedings. She still lacks the skills for chewing. On a good day she does enjoy second stage foods. And loves to eat chocolate Ice cream with Daddy and Brother Brandon. Yummy for Lillie!
We recently had evaluations done with her Therapists and Early Intervention. We hadn't seen them for three months due to excessive respitory/ear infections. They were truly amazed at how much Lillie was doing. But then came the reality check. As I read the evaluations my eyes just filled with tears. Lillie is at an overall rate of a 7 month old(68% delay). This isn't something new to me. And I accept her for who she is (My Lil Angel,My Miracle Baby From God) But I must say I still feel a loss. But I must also say that the joy and blessing of having her outweighs the pain overall.
Lillie continues to amaze us every day. We are very...proud of her
and thankful God chose us to be her parents! We pray daily to keep her
and ask for your prayers as well. Thank You All.
Hugs and prayers.