Maggie B.

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. 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 a plastic surgeon at Children’s Healthcare of Atlanta. He diagnosed Maggi with Craniosynostosis – a condition where one or more of the sutures of the skull close or fuse before the brain has finished growing.

On August 18, 2005 Maggi underwent Craniotomy Surgery to correct skull deformity.

On June 14, 2005, Maggi stopped breathing due to an overdose of Reglan. I started CPR while the ambulance was on the way. She was
admitted to Scottish Rite Hospital facing near death from Reglan Medication. 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.

On February 13, 2006, Maggi underwent surgery to release Tethered Spinal Cord – 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.

On 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.

In May of 2006 Maggi was diagnosed with 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.

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. 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.

April 8, 2009 – Maggi’s VEPTR 2 rod lengthening surgery. The doctor 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.

Maggi has had more surgeries since April 2009, and continues to have surgeries every 3-6 months to lengthen her rod.

Please forgive the length of this email I just wanted to make sure you had a good idea about our little angel. =) Maggi is currently 5 years old, and has started school. Right now, she is doing hospital homebound with the potential to be able to mainstream into the school itself in the future.