Bifida is the most common permanently disabling birth defect in the United States. Spina Bifida literally means “split spine.” Spina Bifida happens when a baby is in the womb and the spinal column does not close all of the way.
Myelomeningocele is the most severe form of Spina Bifida. It happens when parts of the spinal cord and nerves come through the open part of the spine. It causes nerve damage and other disabilities.
Symptoms:
Seventy to ninety percent of children with this condition also have too much fluid on their brains, Hydrocephalus. Children and young adults with Spina Bifida can have mental and social problems. They also can have problems with walking and getting around or going to the bathroom, latex allergy, obesity, skin breakdown, gastrointestinal disorders, learning disabilities, depression, tendonitis and sexual issues. Many also have symptoms associated with Spina Bifida due to a Chiari Malformation Type 2 in the brain. The Chiari Malformation can cause problems with breathing and eating.
Testing/Diagnosis:
Testing for Spina Bifida is done during pregnancy through a blood test. If indicators from the test show an increased risk, follow up and confirmation of the diagnosis is often done through an ultrasound.
Treatment:
A child with Meningomyelocele usually is operated on within two to three days of birth. This prevents infections and helps save the spinal cord from more damage. Most children will also require surgery to install a VP shunt in the brain to allow drainage of the excess cerebral spinal fluid.
Resources:
Spina Bifida Association
Personal Story:
Our daughter, Victoria, was born in July 2013 with a disabling condition, Spina Bifida. When she was born she had a hole in the lower section of her spine which damaged the nerves leading to the lower half of her body. She has limited movement in her feet and legs, and a condition called neurogenic bowels/ bladder. She requires urinary catheters throughout the day to prevent permanent damage to her bladder and kidneys.Victoria also has hydrocephalus, which means she has too much fluid in her brain and spine. She had surgery to install a VP shunt when she was only three days old, and multiple revisions since, which drains the excess fluid from her brain into her abdomen and prevents further brain damage.
In addition, Victoria has what is called an Arnold Chiari Malformation Type 2 in the back section of her brain. The Chiari is where a part of the brain is pulled down from the skull into the spinal cord, and it damaged nerves in the brain, particularly those associated with breathing, swallowing, vocal cords, gag reflex, and the muscles around her trachea. As a result of this Chiari malformation, Victoria was born with tracheomalacia (floppy airway), bilateral paralyzed vocal cords, central apnea, and she had no swallow/ gag reflex. Because of her apnea, Victoria had a tracheostomy and has been on a ventilator since she was born.
A few weeks after her tracheostomy, she had a G-tube surgery along with a Nissen/ Fundoplication which allows us to feed her through a tube inserted directly into her stomach.
To relieve the pressure in Victoria’s brain stem, Neurosurgeon’s at CHLA performed a decompression surgery to remove a section of her skull and the back section of her top vertebrae. This procedure has allowed her to improve her breathing, her right vocal cord is no longer paralyzed, and she has regained some swallow and gag reflex, although they are still very weak.
Shortly after the G-tube surgery, Victoria started to show new symptoms that she had never exhibited before. She began to have high blood pressures and very low blood sugars. She was diagnosed as hypertensive and several months later diagnosed as having congenital hyperinsulinemia/ hypoglycemia.
The endocrinology team at CHLA started her on a drug combination to regulate her blood sugars, and placed her on a continuous 24/7 feeding pump. After just a week of this treatment it became obvious that Victoria was not tolerating this treatment, and we decided to reverse course with the drug treatment. It was soon after discovered that her condition was misdiagnosed and that she had developed Dumping Syndrome as a result of the Nissen surgery. It is a complication that can happen when the vagal nerve gets damaged during the surgery.
Over all, Victoria spent the first 5.5 months of her life in the NICU at both UCLA and CHLA hospitals, during which time she had 10 surgeries and multiple code blue scares. She finally came home in January of 2014, and requires 24/7 care to keep her stable, healthy and happy. She has nursing care at home through out the night and part of the day, as well as the loving care of her mom, dad, and grandma.
She has had a few set backs and scares since her homecoming; however, she has overcome more than most people would ever have to face, and she has done it with joy and love. She is a shining light to all who meet her, whether it be in person or on the internet. She truly is VICTORIOUS over all the challenges life has given her.
Contributed by MOM Leah Broyles
For more information click HERE
Missing part of Chromosome 22…can be a random genetic mutation…first in the family…or a person that has it has a 50% chance of passing it on to their children. Gives rise to a variety of symptoms, ranging in severity.
Clubfoot is a relatively common birth defect, affecting 1/750 births worldwide. Clubfoot is an idiopathic condition, meaning the cause is unknown. Clubfoot, also called Congenital Talipes Equinovarus (CTEV), {C-congenital-present at birth, T-talipes-foot and ankle, E-equino-foot pointing down, V-varus-heel turning inward} is a congenital deformity involving one foot or both. Muscles, ligaments, bones and joints are affected in the developing foot and ankle. The affected foot appears to have been rotated internally at the ankle. In babies with Clubfoot, the tissues connecting the muscles to the bones are shorter than usual causing the foot to be twisted. Clubfoot affects the tendons and ligaments in not only the foot, but the calf and calf muscle as well. The ankle can be twisted at a sharp angle making the foot resemble a golf club, hence the name. The severity of Clubfoot can range from mild to severe.
Overview:
I want to share an amazing little girl who battles everyday to be here with GODS Grace.
My husband, two sons and I welcomed our third son, Gavin, into our family in late summer of 2009. At first, Gavin seemed as healthy as our other two children although he was a little smaller. Within two weeks however, Gavin was rushed to the hospital by ambulance because he was having a hard time breathing. I had no idea the road we were in store for.
I try to connect people to the right info after feeling helpless & alone when we couldn’t find answers for our baby. I was persistent even when Dr.’s said I was just overprotective & she’d outgrow whatever it was. You could tell she didn’t feel good & some days her spots were so bad we wouldn’t leave the house to avoid explaining. My biggest fear was the time going by would cause permanent damage & not knowing if she was dying. No one (in Arkansas), her Pediatrician, nor the specialist at Children’s Hospital, had a clue what was wrong with her. In fact, she has a scar from them doing a biopsy, thinking it was allergies. Once we flew out to Maryland & they tested her for a week, they clinically diagnosed her because her genetic mutation did not show up until they had it sent off for further testing. As soon as they gave her the first shot of daily medicine, Anakinra, her true self began shining for the first time since she was born. They changed her meds about a year later from daily to once every other month, Ilaris. Both of these meds are extremely expensive which has insurance scares that play a role in her future care. We continue to travel out to the NIH yearly for her testing where we see some slight changes in her physical functions each time.
The date was September 13, 2012. Kylie was 2 1/2 years old and was being babysat while I was at work. I often went to pick up my sister from work before picking up Kylie as Kylie was being watched at her home. On the way I got the worst phone call any parent could ever want. Kylie had reportedly fallen off the deck and was unresponsive. The ambulance was on it's way. Approaching the turn to my sister's house I could see the ambulance coming up the road. That was my baby in there... I followed as fast as I could, arriving only minutes behind the ambulance. When I entered the ER I demanded to see Kylie, I wasn't going to answer any of their questions or fill out any paperwork. They took my into the room she was at and told me to sit in a chair in the corner. I couldn't see Kylie. There were too many doctors and nurses surrounding her. Kylie was admitted with a glasgow coma scale of, I believe, 3 which is about the lowest you can get and still be alive. She would not open her eyes, she made no sounds and barely responded to painful stimuli. I only got to sit there a couple minutes before they ushered me into a private waiting room. It seemed like I was there for hours. Kylie was in the ER for an hour and a half. The police came asking me stupid questions like where I worked. The only thing I was concerned about was what was wrong with my baby. It felt like I was in a dream. They told me she would have to be taken to a different hospital 2 hours away and that she would be taken via LifeFlight (helicopter) I was finally able to get a hold of Kylie's dad and he rushed to the hospital as soon as he could. They let me see Kylie before she was taken on the helicopter. She was intubated and unconscious. Kylie's dad arrived just in time to see the helicopter lift off. We made the 2 hour drive down to Children's Hospital of Illinois. About 10 minutes before we arrived I got a phone call telling me she was being taken into emergency surgery. Thank god they didn't wait for us to arrive. We waited again for what seemed like hours before someone came and told us about the surgery and Kylie's condition. Kylie had suffered massive head trauma and her brain was swelling so much that it was trying to move down into the back of her neck. Kylie had suffered a subdural hematoma along with bleeding in her brain. They had to remove a portion of Kylie's skull to allow the brain more room to swell and they had to remove blood clots that had formed in her brain. They told us this was something Kylie would never recover from. That the little girl we knew was gone. Kylie was taken to the pediatric critical care unit after surgery where we waited again for something like 5 hours before she was stable enough for us to see her. Waking into the room was heartbreaking. Her little head was so swollen and she was still intubated, unable to breathe on her own. She had multiple IVs in both her arms and legs. She didn't look anything like my little girl. They had a wire surgically placed in Kylie's brain to monitor the pressure and swelling inside. It took almost a week before Kylie opened her eyes, but she was absent. There wasn't anything left of the little girl I once knew. It was hard to tell how aware she was of anything. She had moments where her heart rate would skyrocket to almost 200bpm. She was given medicine to help her relax. They put a PICC line in her arm, which is basically a multi port IV that runs in her arm and stops at a point near her heart. Kylie's doctors on multiple occasions spoke to us about "being prepared for her to not recover" and what our options were. I would usually walk out on them when they began trying to talk about that. They also spoke of her probably needing a tracheostomy. A tracheostomy is a surgical procedure to create an opening through the neck into the trachea (windpipe) to provide an airway. They never thought she would be able to breathe on her own again. About a week into our stay, one of Kylie's nurses thought she witnessed Kylie have a seizure. Although Kylie didn't move her pupils were moving in a repetitive motion leading the nurse to think it was something like an absent seizure. They wanted to put the bone they had removed back in Kylie's head at this point but needed to do an EEG to check for seizure activity before they could. Everything went well with the procedure and the bone went back in. About a week and a half after being admitted to CHOI Kylie was still intubated but was initiating breaths on her own and the doctors attempted to take the breathing tube out. I waited in the back of the room, hardly seeing a thing as the doctors surrounded her expecting to have to put the breathing tube back in. I think I stopped breathing for 5 minutes while they pulled the tube out. They had to use the oxygen bag to help her start breathing and put her on a a very high concentration of nasal oxygen, but she did it. She was breathing on her own. As Kylie became more stable she was gradually moved to different wards of the hospital. From Peds ICU to intermediate care and finally general pediatrics. Although Kylie was more stable she was still completely absent. Sleeping most of the time, she never moved or made a single sound. It was discovered when Kylie was moved to intermediate peds that she had developed a bed sore on the back of her head about the size of a quarter. After Kylie was weened off the nasal oxygen she was given a tube placed in her nose and down to her stomach to start feeding her. Kylie didn't do so well with that. She threw up many times and often dislodged the tube and forcing them to replace it. Kylie also began to accumulate large amounts of fluid between her skull and skin where they had removed and replaced the bone. They surgeon spoke to us about possibly having a shunt placed to remove the fluid if it continued to build. He came in daily and attached a large syringe to a needle and drew the fluid from her head. After about a week of this, the fluid was gone and Kylie did not need a shunt placed. Kylie was observed to have multiple seizures while in intermediate care. There was one day she must have had 10 or more. Luckily only lasting a min or so. Kylie was placed on an anti-convulsive medication and we didn't see any more seizures. Kylie was then determined to be stable enough to move to general pediatrics and she got her first bath since her head injury and I finally got to hold her. The hospital had done hearing and vision tests on Kylie, to the best of their ability. It was determined that the parts of Kylie's brain responsible for sending this information were functioning as they should be but there was no way of knowing how Kylie's brain was interpreting the information. In preparing to go home, it was decided that Kylie would have a G-tube placed in her stomach for feeding her liquid nutrition. I was very concerned about a surgery in which Kylie would need to be intubated again, but she did great and was breathing on her own immediately after the surgery. Kylie was in the hospital for 47 days following her brain injury. She came home the day before Halloween.
My son, Brayden was diagnosed with Spinal Miscular Atrophy on September 6, 2013! When he was 15 months we began to realize something was wrong! He never began to walk! He never even tried! We would stand him up with help and he just wouldn’t go! We underwent multiples of testing! Blood work after blood work! Everything came back fine! He became sick in march of 2013 and ended up in the hospital for dehydration and ended up leaving with a feeding tube! He was on it for about 2 weeks and showed improvement! But there was still something wrong! At 20 months, his pediatrician desided to send him to Siskins for developmental delay! I expressed some further concerns with this pt who thought it be best to see a neurologist who then recommended testing for SMA! The one test we never wanted to be positive! We were so crushed and in shock, but have somehow managed to get through it and come out stronger than we ever imagined! Brayden is a type 2! Although unable to walk, he is pretty strong! He is able to sit unsupported, able to crawl, and can cruise some along the couch, but is getting to where he can’t do that as much! He is healthy otherwise and we thank God each and everyday for our wonderful little boy!
When I was pregnant I had my first ultrasound at 21 weeks, they couldn't determine the sex, and they had to have the doctor come and re-look at the brain. There was a mass of fluid in the back and they told me it was most likely spina bifida and that they couldn't tell me a positive answer unless i went through for more testing. I knew , regardless of what the condition was, God made my child PERFECT in his image & had a true purpose for this and didn't accept further testing & the genetic counselor and doctors recommended an abortion. I don't think I've ever cried so much, they made me feel so horrible and that my child wasn't going to walk or talk, basically not do anything. I decided to change my OB/GYN and get a second opinion at a different hospital and i went to Tufts Medical Center in Boston. There they did an ultrasound and said we see the fluid , and it is what we call a Dandy-Walker Syndrome (DWS). Finally after 3 months of ultrasounds at the previous hospital , I have a name/condition to what they found! They told me basically not to be afraid, it varies WIDELY ! there are some children who suffer greatly and others who have no signs or symptoms other then headaches and nausea. They told me it is basically something we have to take day by day through his life. I delivered my baby at 36 weeks & 4 days, on April 9th 2013 @ 2:53am at Melrose-Wakefield Hospital to a beautiful baby boy my husband and I named, Yael (Ya – as in yacht; el – as in the letter L ) Jeremiah. His name in Israel means, God's Strength. At birth my son was taken to the NICU and 12 hours later was transported to Tufts Medical Center. My son was born with a list of things we would have to follow up with, he had Jaundice, his blood platelet counts kept dropping ( which we found out our bloods platelets are different and i create very rare antibodies that attacked him- NAIT) , he had a Coarctation of Aorta, Hypospadias, He Had A Hemorrhage of the brain and lastly it was certain Yael had DWV. The first few days were so hard, because my son was faced with SO MUCH! it wasn't just this one thing. after 2 weeks, my son was discharged from the NICU & came home. He had an emergency shunt placed on September 9th, 2013 because he also developed hydrocephalus. He is such a miracle and has proven every negative thing against him wrong. he is developmentally on track and he isn't behind at all. its still early and i know my son is still a baby, but doctors told me he wont even talk, walk, they basically considered him brain dead & My son truly showed me , that doctors ARE NOT GOD ! there are still so many unanswered questions when it comes to science & to the brain. We just learned to have hope, don't doubt anything. Have faith even if it is as small as a mustard seed, the possibilities are endless. I'm dedicated to raising awareness for these conditions and start something in the Boston Area, because there isn't anything for DWS & hydrocephalus. I will keep updating on my sons progress, cause i know he is going to go beyond what doctors think! God Bless everyone!
Naylah was diagnosed with trisomy 5q at about 5 months but her journey as a fighter started at my 20 weeks checkup which she was diagnosed with coarctation of the aorta. Chances were that at birth she would be going through her first heart surgery. From then, We would go weekly to the Obygyn to make sure she was growing strong. At 37 weeks of pregnancy, they decided to induce me since she wasn’t gaining weight.
On August 29th, our daughters 10 month birthday, we found out that she had a fairly large brain tumor which was causing hydrocephalus the pressure from which caused a global brain stroke just three days before the tumor was able to be removed. 
My pregnancy was typical. No problems. No history of problems in family. They day I gave birth the first thing the nurses told me when she came out was she had abnormal thumbs. My daughter also had a double toe and VSD. I was referred to genetics. I got an appointment the day she turned two weeks. The geneticist examined her and then told me she had rubinstein taybi syndrome. Of course I had never heard of this. I asked what this means. Was it something I did? No. Its not hereditary. It just happens. He said it means she will be moderately to severely mentally retarded. I burst into tears. Holding my tiny angel, so fragile. So innocent. What did she do to deserve this? Of course the answer was nothing. After him and the counselor hugged me, he asked me if I wanted to continue talking or if id rather make a follow up. I asked him to continue. He started telling me all the appointments I needed to make. The therapies I needed to seek. The potential health risks right now. After the appointment was over I called her father and told him to leave work and come home. We spent that day crying in each others arms holding our daughter.
Now my daughter is just shy of 16 months. We've had vsd, enlarged kidney valve, failure to thrive, feeding tube, projectile vomiting, chronic constipation, reflux, double toe removal, mris, neuroblastoma, adrenalectomy, tethered spinal cord, planning heart surgery and thumb correction. Education therapy, physical, speech, occupational, sensory processing disorder diagnosis, mild sleep apnea, restless nights, fused labia. We have also realized how lucky we are that that list is all we’ve had. We’ve grown. We’ve found strength. We’ve had accomplishments and progress. We discovered love beyond most peoples capability. We found a family in our fellow rts parents. We’ve been happy. Our daughter is unbelieveably beautiful. Shes sweet and gentle. Shes so happy.
Overview: