Meet the Matthews family! Tamara has graciously agreed to share her family’s journey with rare diseases and how they manage a busy and happy household with two children.
In November 2003, our happy family (mom, dad and 3 year old son) became complete with the birth of our beautiful baby girl. The NICU respiratory team was ready for her as complications were expected – she’d been an “unresponsive” baby in utero. An amniocentesis was performed to see if her lungs were mature enough, and she was delivered via C-section at 38 weeks.
The problems that kept her in the NICU, (fever, sepsis, extreme jaundice, apneas) were a vivid reminder of the fears when her brother was born, full term, with an unexplained brain hemorrhage.
Though much of her early years were spent traveling to various specialists, and receiving speech, physical and occupational therapy, overall she was a contented and cheerful child. At age 6, we found that she suffered from “congenital panhypopituitarism”, a big term that means she lacks all hormones, and needs supplementation daily, including daily growth hormone injections.
Prior to beginning growth hormone treatment, all children must have a brain MRI to be sure there are no tumors that are obstructing the pituitary gland. Thankfully no tumors were found, but a “Chiari malformation” was discovered. This occurs when part of the brain, the cerebral tonsils, descend into the spinal column. This cuts off the normal flow of cerebral spinal fluid. Subsequent MRI’s showed “syringomyelia” from 3 syrinx – bubbles of built up CSF in the spinal cord. Brain decompression surgery is the only treatment.
Our daughter never had the “classic Chiari headaches” that form at the base of the skull, or upon sneezing or coughing. Yet, when her skull was opened, her surgeon said her skull was actually wearing away from the inside out due to all of the pressure! The symptoms of nausea, dizziness, and fatigue, previously attributed to the pituitary issues, were actually symptoms of Chiari. We were very fortunate that this condition was discovered before permanent damage was done. The longer the syrinx remain, the more damage they do to nerves in the spinal cord, and the placement of hers would also lead to scoliosis.
Some patients lose control of their bladder and bowels, and live in extreme and permanent pain, unless there is early intervention. So at age 6, our precious little girl went to Johns Hopkins Hospital in Baltimore, MD, for brain surgery. It was the most terrifying time of our lives. Fortunately, we were blessed to have the care and expertise of Dr. Ben Carson.
He removed part of the rear portion of her skull and vertebrae, creating more space for the cerebral tonsils. Recovery was difficult due to her other health complications, but after a couple of months, we saw our joyful child blossom! Tears came to my eyes the first time I saw her skip, and sing a song while taking a walk. I was not consciously aware that those things had been missing, but realized how much better she felt when I saw her do them for the first time!
Lightning struck twice when in December 2012, our son was also diagnosed with Chiari and syringomyelia. There was no real reason, just a “mother’s instinct” that caused me to ask for an MRI for him. He was watched for a couple of years, but surgery was done when he began to have some slight and intermittent finger tingling. This is something that would normally not be bothersome, but having had the MRI’s, the pediatric neurosurgeon could see that the syrinx lay right at the nerve that affects the fingers.
My son then also had a brain decompression surgery with laminectomy and duraplasty – a procedure in which the outer covering of the brain is opened slightly and a patch is put in to allow for more space. We still do not know if Chiari had any part in his very unusual brain hemorrhage at birth.
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