Cornelia de' Langue Syndrome
Heart defect-Pulmonary Stenosis, Hyprotrophy of Heart, Microcephaly, Duplux Kidneys, GERD, Expressive Speech Delay, Flat feet and over pronation. nearsighted, small fingers and toes, Cute face, luxurious thick long hair.
Jessica Faith Crawford, My Amazing Baby Girl. My first pregnancy was with Jessica. God told me her middle name was to be "Faith", wasn't one of my favorite names, but I was to find out later why it was to be her name.
I didn't gain much weight, I was able to keep riding my horse, and with exception to terrible morning sickness, was an uneventful pregnancy. Although I did have an awful kidney stone at 36 weeks. Everything was going as planned, we thought. My Doctor in Stephenville is Great...Dr. Smith, and he saw no problems with the pregnancy, so we were blissfully unaware that anything was wrong with our precious unborn child. As with most first time baby to be families, we were nervous about the unexpected, but very very excited to get to see our new bundle of Joy. Expectations were high, we were so happy we were almost floating the day of Jessica's birth in Stephenville, Tx.
Dr. Smith allowed Stephen to deliver Jessica, Stephen was SO proud of his baby girl, and was immediately, blissfully, brushing her thick long mousy colored hair, which was abundant , and never fell out like most babies. He had wanted a little girl with big blue eyes and long blond hair.
It was a shock to us, when the nurses called Dr. Smith and the resident Dr. Ben over to listen to Jessica's Heartbeat, and the look on their faces was not good. They told us something was wrong with her heart, she had a murmur, and we would have to wait for the Pedi to come in and listen. The Pedi came and explained to us that Jessica had a severe murmurer, and we would need to take her directly to Cook Children's in Fort Worth, for possible surgery. We were devastated we couldn't even take her home for a bit, they said that her color was very good right now, but that she could turn blue and die at any moment. After a short stay in Harris in Stephenville, because of Jondice, we were off to Cook Childrens, without even a stop to our home.
At Cook Childrens, my little 5lb baby was laying in the middle of a large bed, the lights are very dim and the hum of an Echo machine is running. Jessica had her first cardiac Echo at a few days old. There is a soft light shining on my girl, and the hum has put her to sleep. She looks so peaceful, hard to believe she could turn blue and die. We literally had a team of 4 Doctors walk into the dim soft room. I just wanted to stay warm and calm here, and I depended on God, so much that I really felt like He was holding me. Peaceful....that is what I remember, even when they said Jessica needed surgery. I was not upset, God was holding me.
Jessica's heart had a valve that couldnt open fully. This was causing a backup of blood in one chamber of her heart and making it pump too hard and causing hypertrophy of that chamber. She had Pulmonary Stenosis and they would have to do a balloon valvoplasty on my small 5 lb baby. The only reason she was still alive was that the hole feeding into her lungs that was suppose to close before she was 72 hours old, had not closed, so her blood was being redirected and if the hole closed before they did surgery, they would have to do an emergency surgery. She had her valvoplasty at 5 days old.
We were given a wonderful private corner room at Cooks. Our church family and relative family overwhelmed the hospital. We had an amazing amount of support around us. I think there were 33 friends and relatives the day of Jesscias Heart Cath. I was overwhelmed with the outpouring of love from my friends and family. Rachel Mulder crocheted a beautiful blanket for us, and we had the most wonderful cookies made by Cookies by Design delivered to us.
It was very hard to hand my bundle off to the medical team, so hard. When she came back from surgery, she was so cold, they had to chill her body down to get her heart to beat slower. I tried not to compare her to sick baby animals, and how cold they get just before death sets in. I couldn't let fear have any part of this ordeal.
We were able to take Jessica home in total of 9 days! At one time during our stay in Cooks, the telemetry moniters went off and nurses came running into the room. Jessica had stopped breathing momentarly, and choked. She did seem to throw up allot. I later consulted with her Pedi in Stephenville, who said that I was a first time Mom and all babies spit up, not to worry. She kept on spitting up lots, and would make a high pitch scream at times. One day Jesscica quit breathing at home, we went to Cooks they were concerned it may have to do with her heart. I described the symptoms to on of the docs there and she suggested we test her for Gastroesophageal Reflux. Test Results came back, and showed she was severe, and she was put on 3 meds for this. An interesing thing was discovered during the testing. Jessica had 4 kidneys and 4 ureters going into one bladder. More testing found her bladder and kidneys are working fine, as for that Pedi that said I didnt know what I was talking about, she was fired. That severe reflux is why she quit breathing! I firmly believe this may be a big reason for SIDs. Stand up for your kids, if YOU know there is something wrong PRESS the issue with the doctor.
Since Jessica now had Pulmonary Stenosis, Duplux Kidneys and Microcephaly (brain is too small), we were sent to a genetics doctor. She noticed that Jessica was very very Cute, and found discourse with this. She said Jessica had "dysmorphic" features in her face and small hands and fingers and toes. She said to expect many physical and mental delays, and the microcephaly proves that Jessica would have brain damage, and to not expect her to be able to function in school. We had to rule out Turner Syndrome and Williams Syndrome which we did. That was a whole different story, one that I really learned that all I ever want for Christmas are to have healthy kids!
At four months old Jessica started turning a blue mottling color, and was getting tired when nursing. The Blue mottling was indicative her heart not functioning properly. We had to take her back to the Cardiologist, Dr. Schuttee, who determined that Jessica had to have a second balloon valvoplasty. This one worked great! She even stopped crying in her car-seat!
After more months of excruciating screaming and intense throwing up, we found out Jessica had food allergies that were making her have Reflux. I finally had one Doctor that would listen to me. Dr. Block. We were able to take Jessica off of all her Reflux Meds and start her on Neocate....a lifesaver! Within 1 day Jessica quit ALL Reflux, within 3 days all nasal symptoms and rashes went away. Amazing what can happen by altering a diet, And finding a doctor who will listen!
Jessica did progress slowly in speech, but always has understood exactly what you wanted and can follow directions better than most adults. Her fine motor skills were great! She didn't talk for a long time and her first words were "leaf" and a few days later "fish". This was not your usual Hi and dada! ECI stared seeing Jessica in her first year to try to keep her development on track. Time for Pre-K came along and she went. She still was behind in talking, and making sentences, in fact she was only making 3 word sentences, far below other kids.
In Third grade, Jessica started having problems with her ankles swelling and being painful, after visiting with a surgeon at Cook Childrens, he said she needed surgery on her ankle to take out a ganglian cyst. I refused to believe that, and I knew something else was wrong. We prayed over her and asked God for Answers. He showed me her feet, and to watch her walk and compare her to a horse who has too much outside hoof. It was very evident now, Jessica had NO arch. She was totally flat footed, and if I compared her to a horse, we would say her bones have fallen down. We found a good foot doctor, and she now has orthotics, which we hope help. She really loves to run and wants to play soccer, but her feet hurt her too much. Surgery to put her arch back is the last resort, I am standing on Faith that her feet will get better every day!
In 4th grade Jessica was on the A B honor roll! The school does make some learning accommodations for her in speech, and math, and it takes her brain a bit longer to answer any question, written or spoken. Dyslexia has begun to be shown as another problem. If you ever get see meet her, please don't get offended if it takes her a few extra seconds to respond to your greeting. People today think she is being rude by not saying Hi quickly or introducing herself in a timely manner, she will, just give her a few extra seconds.
As a person, she is such a blessing! This little person is just AMAZING and I am SO happy to have her!!!!! God is Good! Jessica loves to cook and have her friends over, and is one of the most responsible people I know. She just won Grand Champion Cake at our Palo Pinto County fair!! She loves her horse Pecos and likes to take slow rides and play with her animals. Ohhh...and remember those blue eyes and blond hair her daddy wanted...he got it, her hair is almost 3 feet long and as beautiful as her dark blue eyes.
Her story is still growing and weaving, but we know GOD is In Control!
2014--------Jessica is now 12 and we FINALLY have a diagnosis as to why she is the way she is. She has a mutation on the NIBPL Gene, This causes Cornelia De Lange Syndrome. We are homeschooling both kids now. She seems to have been affected more physcally than mentally with this particular mutation, as Jessica is Awesome. This gene also gave her her Beautiful hair!!!
Abdominal Wall Defects
Omphalocele, GERD, ADD
Jacob Levi Crawford, My wonderful baby number 2, would not be alive today had I taken the Doctors advice, which was to terminate the pregnancy...
August 2003.....I knew I was pregnant with the little boy my husband wanted, that this was him.
I did not know what kind of a roller coaster ride we was about to go on, and how God showed up in our lives, larger than ever before.
At 7 weeks in to the pregnancy, I thought I was losing my little boy. I will never forget that day, all the Dr. office said, is they couldn't do anything about it, come in tomorrow for a sonogram. I Prayed, all I knew to do... The Sonogram the next day did show my baby was still alive, course about all you could see is a heartbeat...but there was something else too. They didnt know what, but where the "yolk sac" should be, was void, and was just not right. i was told to come back in 2 weeks for another sonogram. I was then 9 weeks along and they still could see a beating heart, but the "yolk sac" was empty. At this stage it should be fluid filled, this was not.
Wonderful Dr. Smith sent me to a neonatologist in Fort Worth. At 15 weeks this doctor said my baby had an Omphalocele, and will probably die.
An Omphalocele is a rare abdominal wall defect. A sack is outside of the body and can contain liver, intestine, kidney and more. They are classified as small, medium, large and huge. At this point she felt that my baby's "O" contained all of his liver, intestine and gall bladder, and was large to huge. She then gave me the statistics: 70% of "O" babies are born full term and then die. Of the 30% that live, 70% of them are hospitalized for long periods of time and have surgery after surgery. She said, that terminating the pregnancy would be a feasible option for us, because we already had one special needs child (Jessica-heart-microcephaly), and this baby would not have a good quality of life because of being in the hospitals so much. If the baby (by this time we had nicknamed him "Gunny") were to live, to expect to be in NICU 3-6 months trying to grow enough skin to stick all his organs back, and sew him up.
With much prayer, soul searching, and more prayer, I knew I couldn't terminate this baby's life. We already knew him, and loved him, and...I knew it was against our beliefs. God would take care of us, us there was some uncertainty, but even if he did die, I knew my baby would be in heaven. And, as hard as it was to understand, I knew that if Gunny came full term, and then died, I knew some other mother would be able to to be helped with my sons good organs. Peace,
Peace is what finally came over me. That Peace that He gives. God also gave me peace when he whispered into my heart Gunny name. We were praying with a church elder, the elder was praying about my son, and that his name would be held in esteem, and at that very instance the name "Jacob" lept into my heart, loud and clear.
About this time, we changed Drs. We started seeing Dr. Bannie Tabor, an eccentric long haired hippie looking dude. I called his office and he called me back at home one night, I was surprised, but I wanted to ask him an important question, one that I have learned to ask all Dr.s. I wanted to know if he was a Christian, who was his Lord and Savior. He was shocked at such a question, answered correctly and we saw him the next week.
Dr. Tabor proceeded to give me the same statics as the previous neonatologist, that Gunny only had about a 9% chance to live and have a healthy life. He said to expect 3-6 months in the NICU, just be prepared. He did not say to terminate the pregnancy. I felt a huge "pressing" to declare at every sonogram that the "O" was getting smaller out loud, in Jesus name. That may sound odd to most people, but when your baby's life is at stake, you will do almost anything. The first time I said it, Dr, Tabor explained to me that he was not going against my declaration, but that generally the "O" grows with the baby and the organs grow, and do not go back in. At his first sonogram Gunny "O" housed intestine and all of his liver.
The months went by, and God would give me little nugget or pearls to let me know He was still with me. A dark brown mare that I had just bought was bred to a buckskin stallion,and she foaled a white filly in April. I had to sell my favorite and best Stallion earlier to pay for medical bills. He was also a Perlino. This new Pearlino filly was God saying to me. "I am still here, and with you".
I was not allowed to ride my horse like I was with Jessica, so the months were slower. No riding and gaining weight....Finally June was here, and a C-Section was scheduled for June 14th. I started early labor the night of June 13, so we were right on time!
Dr. Tabor delivered Jacob Levi "Gunny" Crawford at 10 am, he was a whopping whole 5 lbs. An entire medical team was on standby from Cook Children's and Harris NICU to take my baby and stabilize him. That evening, we got the news that they were going to be able to do surgery on him that night. The Docs from Cook Children's assessed Gunny and reported to us that the "O" only enclosed a small part of liver, that the rest of the liver and intestine had gone back into his body! Soon after surgery, we heard that he was doing well and that he was even already fighting the respirator, and wanting off of the breathing machine! We were elated! My son only stayed in the NICU for 8 days! A real record! The NICU Dr, made a point to tell us that most "O" babies are never this healthy, and the we truly had a real miracle baby. Dr. Tabor stopped in before his vacation to tell US thank you, that our faith and the health of our baby was very encouraging, and that this miracle baby and our testimony is encouraging him and his clients.
Gunny has only had to have one more surgery, one for a hernia. He is very very healthy and active. Reflux seems to be the only health issue right now, we had to raise him on raw goat milk, he couldn't drink my milk or any other formula.
He has no Belly Button and also has a gap where his muscles do not close together on his abdomen. We have to have a special protector on his belly area. Doctors say he doesn't need to play any impact sports because of this defect. BUT....He can ride horses well, fish like a heron and hunt like his Daddy.
My most favorite sound in the world is his infectious laugh when he is loping and trotting his horse beside me. It is heavenly! Although he is not allowed to play in contact sports because of the muscle gap, he is enjoying life to the fullest without that!
Thank you nurses at Harris Methodist NICU, you truly are awesome and amazing wonderful people.
Both of my kids are miraculous kids! Thank you Jesus!