April 18, 2005 Margaret Michelle Rosalee Blair was born. 5lbs 14.4oz and 19″ long. At birth, the doctors noticed a deformity with Maggi’s head and right eye, so she was immediately taken and admitted to the Neonatal Intensive Care Unit at Southern Regional Women’s Center. We were able to bring her home on May 6, 2005 with a strict medication schedule and sever feeding issues. Upon the advice of the discharge doctor at Southern Regional, we made an appointment with Dr. Fernando Burstein, a plastic surgeon at Children’s Healthcare of Atlanta. He diagnosed Maggi with Craniosynostosis.
What is Craniosynostosis? (CRAY-nee-o-SIN-os-TOE-sis)- To allow for rapid brain growth, your baby’s skull cap is made up of five bones, held together by a fibrous-like material called “sutures”. Normally, they remain open as long as the brain grows, which gives the brain room needed to grow in all directions. If any of the sutures close or fuse before the brain has finished growing, the condition known as craniosynostosis occurs. - Other terms used to describe this problem include: synostosis, or cranial stenosis. – Premature closure can take place before birth or at any time until the brain stops growing. – Because the brain is growing normally, it will take the path of least resistance which will result in a misshapen head or face.
Craniotomy Procedure – Surgical treatment of craniosysnostosis began in the 1890′s and multiple procedures have been developed and advocated for the treatment of this condition. In modern times, surgical correction of craniosynostosis is carried out by surgical craniofacial teams performing a variety of procedures which often times leads to successful correction of the associated deformities.
The “traditional” operation is carried out by making a scalp incision from ear-to-ear, mobilizing the scalp to expose the skull, total or sub-total skull removal, which is followed by reshaping and replacement of the skull with a variety of materials.
Surgery usually takes several hours (3-7), and universally requires blood transfusions with hospitalization of three-five days. Extensive postoperative swelling is often seen and can be associated with some pain and discomfort. Maggi, however, did not require a transfusion, nor did she even lose very much blood. Usually the doctors have to put a shunt into the patient’s head so that the blood can drain, but Maggi didn’t need one. The doctors simply taped a piece of gauze underneath her nose to catch any drainage – and there was very little (that’s a good thing).
June 14, 2005 Maggi stopped breathing due to an overdose of Reglan. Patrick started CPR while the ambulance was on the way. She was admitted to Scottish Rite Hospital facing near death from Reglan Medication.
What is Reglan? – Reglan increases the rate at which the stomach and intestines move during digestion. It also increases the rate at which the stomach empties into the intestines and increases the strength of the lower esophageal sphincter (the muscle between the stomach and esophagus). – Reglan is used to treat diabetic gastric stasis (slow movement of the stomach), which causes symptoms such as nausea, vomiting, heartburn, decreased appetite, and prolonged fullness after eating. It is also used to treat gastric reflux or heartburn (the regurgitation of stomach acid into the esophagus), prevention of postoperative nausea and vomiting, prevention of nausea and vomiting associated with cancer chemotherapy, facilitation of small bowel intubation, and to facilitate x-ray examination of the stomach and intestines.
What Happened? Maggi was put on Reglan when she was admitted into NICU at Southern Regional Hospital. The doctors say they put her on Reglan because she had feeding issues and the possibility of reflux. When she was released from the hospital, she remained on the reglan. During one of the refills, the pharmacist made a mistake. Her dosage was supposed to be .10 mg ~ 1 ml. The pharmacist mixed it as 1 mg ~ 1 ml. When we got it, the label still read the same, but the color and consistency of the reglan was much different. We contacted the pharmacist, but he insisted that he mixed it correctly. We told her pediatrician, but she couldn’t tell us anything. We had been giving Maggi the reglan as directed. Every time she took it, she choked on it. We finally took her and the bottle of reglan to the pediatrician. She contacted the pharmacy. She helped us find out about the mistake, so for almost 4 weeks, Maggi was taking 10 times the dosage.
February 13, 2006 Surgery to release Tethered Spinal Cord. Procedure performed by Dr. Kevin Stevenson.
What is Tethered Spinal Cord? A tethered spinal cord is a neurological disorder caused by tissue attachments that limit the movement of the spinal cord within the spinal column. These attachments cause an abnormal stretching of the spinal cord. The course of the disorder is progressive. In children, symptoms may include lesions, hairy patches, dimples, or fatty tumors on the lower back; foot and spinal deformities; weakness in the legs; low back pain; scoliosis; and incontinence. A tethered spinal cord may go undiagnosed until adulthood, when sensory and motor problems and loss of bowel and bladder control emerge. This delayed presentation of symptoms is related to the degree of strain placed on the spinal cord over time. Tethered spinal cords appear to be the result of improper growth of the neural tube during fetal development, and is closely linked to spina bifida. Tethering may also develop after spinal cord injury and scar tissue can block the flow of fluids around the spinal cord. Fluid pressure may cause cysts to form in the spinal cord, a condition called syringomyelia. This can lead to additional loss of movement, feeling or the onset of pain or autonomic symptoms.
Thoracic Scoliosis Spinal curvatures occur in infants for no known reason. While some of these curvatures will go away without treatment, a number will increase rapidly to produce a severe deformity (tethered spinal cord). If treatment is given at the earliest possible moment, even the increasing curvatures can be helped to grow straight, permanently, thereby ensuring a normal life without deformity. It is possible to tell which curves are likely to resolve spontaneously, and which will get worse by measuring, from an x-ray, the angles of the ribs to the vertebra at the center of the curve. To confirm the diagnosis, the child must be re-x-rayed after two or three months. A progressive curve demands immediate treatment. Maggi will be in two braces for one year to keep her Scoliosis at the degree of curvature it is now. When she gets older, surgery will more likely have to be done to correct the curve, with insertion of a rod. One more craniotomy surgery is expected around age 4 to sand the skull.
February 19, 2006 Maggi in Scottish Rite Hospital, only 24 hours away from dying of Rotavirus that she contracted while having the spinal cord surgery on the 13th. She was there over one week and pulled through.
What is Rotavirus? You might not be familiar with the terms “rotavirus” and “rotavirus gastroenteritis,” but you probably have known children that have experienced this potentially serious and highly contagious disease. Rotavirus gastroenteritis (roe-tuh-vir-us gas-tro-en-tuh-ry-tus) is unpredictable, and there is no reliable way to know which infected children will have severe cases. Rotavirus most often infects infants and young children. Almost all children are infected with rotavirus in the first few years of life, when they are especially at risk for the disease. Most children in the United States are infected by 5 years of age. Rotavirus gastroenteritis is the leading cause of severe, dehydrating diarrhea in infants and young children. It is so infectious that it can survive for long periods of time on toys and ordinary surfaces found in most homes. Rotavirus is also relatively resistant to most soaps and disinfectants, so preventing your child from exposure can be difficult.
But knowing that rotavirus is common can be of little relief if your child is suffering. The disease, which can occur unexpectedly, can cause symptoms such as severe diarrhea, vomiting and fever. These symptoms can quickly lead to dehydration (that is, loss of body water), which can be life threatening. It is important to recognize symptoms of rotavirus quickly to help prevent dehydration, which in more severe cases can lead to decreased blood volume and drop in blood pressure. Your child could have more than 20 diarrhea stools or vomiting episodes in a 24-hour period. In severe cases your child can have diarrhea for up to 9 days.
Call your healthcare professional immediately if your child shows signs of a rotavirus infection.
May 2006 Maggi’s geneticist called to give us Maggi’s diagnosis of Trisomy 9 Mosaic Syndrome.
What is Trisomy 9 Mosaic Syndrome? General information – The name “Trisomy” means three (“tri”) copies of a chromosome (“somy”). Unlike most individuals, people that have any form of Trisomy are born with a whole or partial third copy of a chromosome, instead of the expected two. For example, a child that has a third copy of the number 21th chromosome, rather then just the pair, have a common disorder called Down’s Syndrome. When the 18th chromosome has been affected, then that better known as Edward’s Syndrome, and again the 13th is Patau’s Syndrome. Trisomy 9 refers to the number 9th chromosome being affected, though due to being so rare it has not yet been given another name. Chromosome 9, Trisomy Mosaic, also known as Trisomy 9 Mosaic Syndrome, is a rare chromosomal disorder in which the entire 9th chromosome appears three times rather than twice in some cells of the body. The term “mosaic” indicates that some cells contain the extra chromosome 9, while others have the normal chromosomal pair.
Symptoms – Associated symptoms and findings may vary greatly in range and severity, depending on the percentage of cells with the extra chromosome. However, common features include growth deficiency before birth (intrauterine growth retardation); mental retardation; structural malformations of the heart that are present at birth (congenital heart defects); and/or distinctive abnormalities of the skull and facial (craniofacial) region, such as a sloping forehead, a bulbous nose, short eyelid folds (palpebral fissures), deeply set eyes, and/or low-set, malformed ears. The syndrome may also be characterized by musculoskeletal, genital, kidney (renal), and/or additional physical abnormalities. Chromosome 9, Trisomy Mosaic may be caused by errors during the division of a parent’s reproductive cells or during the division of body tissue cells early in the development of the embryo.
Maggi’s Trisomy 9 Features – Right Coronal Synostosis, Broadened Forehead, Bilateral Ptosis (right greater than left) , Epicanthal Folds, Fine Horizontal Nystagmus w/ intermittent right Exotropia, Low-Set Posteriorly Rotated Ears, Bulbous Appearance of Chin/Nose, Down-Slanted Outer Canthi, Down-Slanted Corners of the Mouth, and Thin Vermilion Border. Reflux, Filar Lipoma, Low-Lying Conus, Progressive Scoliosis @ 40 degrees, Bilateral Preauricular Pits, Proximal Implantation of Thumb and Hammertoe Appearance of the Great Toes, Medial Deviation of Right Great Toe, Additional Nasolacrimal Fistula, Left Inner Canthus… (genetics report, 6/2/06)
Treatment – The treatment of Trisomy 9 (and its variants) is directed toward the specific symptoms that are apparent in each individual. Such treatment may require the coordinated efforts of a team of medical professionals, such as pediatricians; surgeons; heart specialists (cardiologists); physicians who diagnose and treat abnormalities of the skeleton, joints, muscles, and related tissues (orthopedists); neurologists; and/or other health care professionals.
In addition, in some cases, physicians may recommend surgical repair or correction of other craniofacial, musculoskeletal, genital, and/or other malformations associated with the disorder. The specific surgical procedures performed will depend upon the nature and severity of the anatomical abnormalities, their associated symptoms, and other factors.
Early intervention services may also be important in ensuring that affected children reach their potential. Special services that may be beneficial include special remedial education, physical therapy, and/or other medical, social, and/or vocational services. Genetic counseling will also be of benefit for families of affected children. Other treatment for this disorder is symptomatic and supportive.
Other Medical Issues Apnea – More specifically, Central Apnea. When the part of the brain that controls breathing doesn’t start or maintain the breathing process properly it’s called central apnea. It’s the least common form of apnea (except in very premature infants, in whom it’s seen fairly commonly because the respiratory center in the brain is immature) and often has a neurological cause. An example of normal central apnea would be the short pause that occurs following a deep a sigh.
Seizures – Due to Reglan overdose. Symptoms of a Reglan overdose include drowsiness; confusion; uncontrollable movements of the arms, legs, face, or tongue; muscle spasm of the neck; tremor; irritability; and agitation.
Low Muscle Tone – A child is said to have low muscle tone – hypotonia – if her muscles are on the loose, floppy side. You may find it unusually easy to move your child’s arms and legs when they are relaxed, or that he seems to slip through your arms when you pick her up. Although hypotonia is not a well-understood phenomenon, children with low muscle tone often have delayed motor skills, muscle weakness, and / or coordination problems. While low muscle tone in an infant can be caused by a variety of fairly serious problems including hypothyroidism, Down syndrome, or a neurological problem, if your child was not diagnosed with the problem until after his first birthday, his problem is likely to be milder.
Maggi can develop any of the Trisomy 9 Mosaic Syndrome health issues at anytime of her life, if she does not already suffer from them. We are to stay watchful and continue to take care of her as if she will be here forever.
December 30, 2006 Maggi was admitted to Scottish Rite Hospital for 9 days with a life-threatening upper respiratory infection.
August 6, 2007 Maggi admitted to Scottish Rite Hospital for 6 days, surgery to remove severe infection in her upper right jaw around tooth. Tubes were placed at the same time.
July 21, 2008 Maggi has surgery to insert a Vertical Expandable Prosthetic Titanium Rib (VEPTR rod) to expand rib cage, and begin the straightening process of the scoliosis. Surgery was successful, correcting her 85 degree scoliosis curve to 50 degrees!
October 10, 2008 Maggi’s orthopaedist runs x-rays and finds that her spine curvature has increased to 65 degrees in such a short amount of time. Surgery to lengthen the VEPTR 2 Rod has been scheduled for December 3, 2008. This surgery was hoped to be done at the end of January, but with Maggi’s sudden growth, the rod must be lengethened earlier.
December 3rd, 2008 Due to everyone in the house having a virus, Maggi’s surgery has been postponed until December 11, 2008.
December 11, 2008 Maggi’s VEPTR2 Rod was lengthened by her surgeon, Dr. Devito, at Scottish Rite Hospital. This procedure took Maggi back to a 55 degree thoracic curve in her scoliosis. This is an ideal degree for Maggi to be at so that she can maintain proper lung function. Maggi went home only a few hours after the procedure was completed.
March 12, 2009 Maggi was under sedation for over one hour to have her second set of tubes placed in her ears and an Auditory Brainstem Response (ABR) test (see information below). The doctors said that Maggi has moderate hearing loss in her right ear, but her left ear showed normal. They want to test her again down the road to see if the hearing in the right ear improves with the new tubes.
An infant is sleeping or sedated for the ABR. An infant may be sleeping naturally or may have to be sedated for this test. Additionally, older, cooperative kids may be tested in a silent environment while they’re visually occupied. Tiny earphones are placed in the ear canals. Usually, click-type sounds are introduced through the earphones, and electrodes measure the hearing nerve’s response to the sounds. A computer averages these responses and displays waveforms. Because there are characteristic waveforms for normal hearing in portions of the speech range, a normal ABR can predict fairly well that a baby’s hearing is normal in that part of the range. An abnormal ABR may be due to hearing loss, but it may also be due to some medical problems or measurement difficulties.
March 20, 2009 Check-up with orthapedist Dr. Dennis Devito. Dr. Devito will be x-raying Maggi’s spine to determine the current curvature and determine a plan of action for the next lengthening surgery.
April 8, 2009 Maggi’s rod lengthening surgery went very well! Dr.Devito told us that the hooks at the bottom of the rod were beginning to wear, so he replaced them with screws, lowered the rod, and lengthened it. He did not tell us any specific curvature that her scoliosis is at now, but he was confident that he has helped Maggi feel better with her back.
October 21, 2009 VEPTR 2 Growth Rod lengthening surgery.
April 30, 2010 VEPTR 2 Growth Rod lengthening surgery.
September 1, 2010 Surgery performed to replace the VEPTR 2 Growth Rod with a longer one. Screws replaced at the bottom of the rod, and a bone graft was added to further stabilize the screws.
September 4-19, 2010 Maggi caught a near fatal chest cold. The cough was persistent and added much pain to her back while trying to heal from surgery on 9/1/10, the intense pressure caused her incision to open slightly and bleed. The light in her eyes left us, and she was close to dying. It took 15 meds/day and respiratory therapy to move the infection out of her lungs and into her airway. The only way we could get her to cough hard enough to clear her airway was to have the neighbor’s dog come over and bark at her. She tried barking back, and the sweet girl began clearing herself! What a miracle!
November 18, 2010 Dental surgery & third set of ear tubes.
December 26, 2010 – January 18, 2011 Maggi suffered from a chest/sinus infection. This nearly took her life on New Year’s Eve. Intense respiratory treatment was done at home to assist in Maggi’s long fight and recovery.
February 16, 2011 – April 17, 2011 Sinus and respiratory issues again reared their ugly heads, thought to be cause by a pollen allergy. Numerous visits to specialists with no relief from respiratory treatments.
April 17, 2011 – April 21, 2011 Maggi was admitted to Scottish Rite Hospital after waking up with paralysis on the left side of her face. She has not urinated since April 16, and had quit breathing two nights prior, refusing to eat. She was diagnosed with Bell’s Palsy, and pollen was not the causing factor of her last two months of health issues, and possibly other issues prior to that… at this time, we cannot reveal the cause, but it is being dealt with.
June 10, 2011 - Maggi had yet another VEPTR II lengthening. Everything went well, and Maggi came home the same day. We were a little worried for a few days because the incision site looked really rough and purple! After a visit back to Dr. Devito’s office, he told us that the purple roughness was a new kind of skin glue he had used over the incision. So our minds were set at ease. Maggi also ran a fever for about 3 1/2 weeks. We were worried about that, too, but were told that it was “just a bug”… but we monitored her temperature almost hourly to make sure it never got too high. Not fun to do, but necessary. She was given meds when needed to keep her fever from going too high, and luckily it never got over 101.
STAY TUNED! MAGGI’S STORY (LIKE HER ROD) IS EVER LENGHTENING!