Premature with Drug Addiction

Overview:
29 wks premature, drug addicted

Symptoms:
Born clinically dead in the toilet of her mother's county jail cell. She suffers from a nerve disorder that causes tremors, a seizure disorder, damaged vocal chords and trachea due to contracting undiagnosed chlamydia in the birth canal and an underdeveloped lung. She also suffers from significant asthma.

Tests/Diagnosis:
seizure disorder, nervous system disorders, vocal chord and trachea damage, athsma

Treatments:
Where do I begin. PT/OT for several years, several surgeries, continuing speech and neurological care. Takes meds to control seizures and help cut down on hand tremor and steroids for her lungs/asthma.

Resources:
Hand to Hold serves all NICU families
Adoptive Parenting as well as other adoption support organizations have services to help when dealing with babies going through drug related or health issues

Personal Story:
When we met Anna Marie she had been laying in the hospital alone for almost three months with no mommy to love her. The nurses were doing all they could to care for her - and we credit her survival to their excellent care - when our foster care worker rec'd a call from her attending physician with the news that she was failing to improve and that they had "done all they could" Anna had "no one to live for" and was dying. Her lungs were so scarred from almost continual pneumonia and intubation with the complications of chlamydia that she would cry with no sound - just bubbles. Her O2 would drop so low at times they weren't sure she would recover. When we met her, we were told that she would likely not survive, but at least we could "love her until the end". Even our pediatrician warned us that we were very likely to get our hearts broken because she was so very ill and her prognosis was so grave. I met her on a Wednesday night in late April of 2007. She weighed just four pounds. I moved into the hospital where we bounced back and forth from the PICU to a room just across from the nurses station. We fought and fought and prayed and prayed until our knees were worn out -- she came home 8 months later, was in and out alot with pneumonia and we had O2 at home most of the time but she was improving every day. On New Years Day of 2012 she celebrated her 5th birthday and has amazed all the doctors who have ever cared for her! We still battle a "little" lung on her right side and the seizures, tremors and delays can be discouraging at times but she is a precious, precious gift that we are so incredibly grateful for. I am looking forward to being a part of this special group of mommies! - hope the photo comes through, she was a flower girl this spring and it looks like she is dancing with the tree in her hand!


Contributed by MOM Elizabeth Harkins

Congenital Birth Defects (Scoliosis & Atrial Septal)

Overview:
Congenital Scoliosis caused by hemivertebrae( first child) and Atrial Septal Defect with first degree AV block, congenital heart defect ( second child).

Symptoms:
My first child, Azlynn, was having stomach problems so a KUB was ordered. This was when she was 7. Upon examination of the KUB report, it was noted she had mild thoracolumbar scoliosis. Her ped said they would recheck it in a year. The next year at 8, it had gotten progressively worse. Otherwise she had no symptoms. For my second child her only symptom is a heart murmur.

Tests/Diagnosis:
Azlynn had an x-ray done. After that confirmed she got worse, she then had to see a orthopedic surgeon who did many more x-rays. He diagnosed her as having hemivertebrae, a birth defect ocurring in the womb which caused scoliosis. For the second child, she was sent to a cardiologist who had an EKG and an echo done. She was diagnosed with atrial septal defect with first degree av block. Her hole is 22 to 25 MM in size and is very large for her age.

Treatments:
First child had posterior spinal fusion on 6/08/11 and is doing well. She has to be checked every year to monitor growith with the rods and screws she has in her spine. The second child has to undergo open heart surgery within a few months to patch her hole closed.

Resources:
None.

Personal Story:
Hi, I have two girls and they were both born with congenital birth defects. My oldest daughter Azlynn has congenital scoliosis, caused by hemivertebrae. She had a posterior spinal fusion last year at Johns Hopkins. She is now doing great and has to be checked every year to see how her spine is growing with the rods and screws. My 19 month old, Aurora, was just diagnosed with two congenital heart defects, Atrial Septal Defect and AV block. The ASD is very large for her age, 22 to 25 MM in size. She has to have open heart surgery. We are being recommended to do it now or before the cold season kicks in. I am heartbroken and really scared.All prayers are appreciated. These girls are my warriors :)


Contributed by MOM Jess Moore

Oromandibular Limb Hypoplasia

Overview:
Oromandibular Limb Hypoplasia

Symptoms:
My son was born with no feet, and with missing/small fingers. He was also severely tongue-tied, as he was born without a frenulum.

Tests/Diagnosis:
Shriner's Children's Hospital of Philadelphia diagnosed him with Oromandibular Limb Hypoplasia when he was 3 months old. Prior to that, we had no real diagnosis, just guessing.

Treatments:
He had reconstructive surgery on his tongue at 11 months old. He currently receives Occupational Therapy once a week and Physical Therapy twice a week.

Resources:
There are none.

Personal Story:
I found out that Kayden did not have any feet when I was 13 weeks pregnant. After that, the doctors accused me of being a drug addict and monitored my pregnancy as a high risk pregnancy. (I am not & have never been a drug addict, this is just how the doctors chose to treat me because they have never seen his condition before.) When Kayden was 3 months old and we finally learned of the name of his "disease", (it is classified as a rare disease) I immediately starting searching for anything else I could find on it. To date, the only information I can find is two people in Columbia, unrelated, with his disease and one little girl in Georgia who was adopted, whose story is online.


Contributed by MOM Alyssa Johnston

Congenital Anomaly/Mental Retardation Syndrome Characterized by Heart Defects

Overview:
Congenital anomaly/mental retardation syndrome characterized by heart defects, a distinctive facial appearance, ectodermal abnormalities and mental retardation. Clinically, it overlaps with both Noonan syndrome and Costello syndrome, which are caused by mutations in two genes, PTPN11 and HRAS, respectively. Recently, we identified mutations in KRAS and BRAF in 19 of 43 individuals with CFC syndrome, suggesting that dysregulation of the RAS/RAF/MEK/ERK pathway is a molecular basis for CFC syndrome.

Symptoms:
The signs and symptoms of cardiofaciocutaneous syndrome overlap significantly with those of two other genetic conditions, Costello syndrome and Noonan syndrome. The three conditions are distinguished by their genetic cause and specific patterns of signs and symptoms; however, it can be difficult to tell these conditions apart, particularly in infancy. Unlike Costello syndrome, which significantly increases a person's cancer risk, cancer does not appear to be a major feature of cardiofaciocutaneous syndrome.

Tests/Diagnosis:
Molecular genetic (DNA) TESTING

Treatments:
Currently, there is no cure to treat all of the symptoms of CFC syndrome. However, with proper management and early intervention, much can be done to improve the health of children with CFC syndrome. At present, treatment ultimately depends on the unique characteristics of each individual. These can include heart surgery to repair a structural defect, medications and lotions for the skin problems, or eye surgeries or corrective lenses to improve vision.

Resources:
http://www.cfcsyndrome.com

Personal Story:
I was 26 weeks pregnant was going for a routine check up..they noticed I had a very large build up of amniotic fluid. So over the course of the next few weeks I was monitored. They did amino reductions. At a routine appointment I was having lots of contractions. By this time I was 32 weeks. They hospitalized me for the remainder of my pregnancy but with a follow up ultrasound noticed the baby had fluid around heart and lungs. Our son Braxton was delivered that day at 33 week and 2 days. They told us when he was born he had a 5% chance of survival the first 72 hours. That was devastating. We spent 77 days in the NICU at Kentucky Children's Hospital before we came home in April of 2010. After that he was hospitalized many many times. He has a vp shunt, a feeding tube. Lots of heart problems and lung problems. But it wasn't until Aug of 2011 we found out our little guy was even more special. We had a very long stay in Cincinnati children's hospital where they did lots of genetic testing and we finally got our answer. We had never heard of this syndrome until then. We came home and he was fine for a couple of months and then one day I woke up and noticed something just wasn't right. So I called 911 and they airlifted him back to UK HOSPITAL where he coded 2 times. They told me his airway was closing up so they would have to do a tracheostomy. I was devastated once again. I thought how much more can my little fighter go through. We got to come home a couple weeks after the tracheostomy in May of this year. Since then my little man has progressed significantly. He is truely my miracle from god. He is 2 1/2 years old and smiles all day everyday.


Contributed by MOM Sherrie