Stephanie was born healthy and happy with no medical concerns. When she was a few months old the doctor suspected that one side of her body was larger than the other. After a visit to the geneticist, with some extensive bloodwork, it was determined that she had Hemihypertrophy - a condition where one side of the body or a part of one side is larger than the other and can have increased growth such as during growth spurts in adolescence. Children with hemihypertrophy have an increased risk of developing certain types of cancer, including Wilms tumor (a childhood kidney cancer) and liver cancer. Children with hemihypertrophy may also develop scoliosis, a curvature of the spine. Now this hasn't really affected her life so far other than tolerating abdominal ultrasounds and blood draws every 3 months until she was about 7 years old to monitor her increased risk of cancer.
In addition to the Hemihypertrophy, we were told that she also has a genetic condition called Mosaic Trisomy 15. As we understand, this genetic mutation affects only some of her cells (possibly 40-60%), which is where the term "mosaic" comes from. Had all her cells had an extra marker on her 15th chromosome, she would not have made it through the full term of my pregnancy or would not have survived shortly after birth. Our first miracle! She had no major abnormalities affecting her organs or brain and we were extremely grateful for having been given a chance to raise a potentially healthy little girl. As this was such an extremely rare genetic condition, doctors were not able to give us an idea of what to expect in terms of her development and life expectancy. As she began to grow and develop it became apparent that she was delayed in most of her milestones...walking, talking, fine and gross motor skills etc. Eventually around 4 years old she was diagnosed with Autism, as a direct result of her genetic condition. But she was still healthy and we were all thankful for that!
Great supports were put into place to help Stephanie realize her full potential, whatever that was going to be for her. She attended daycare/preschool at the age of 2 for socialization and interactive development. Since she was an only child, she would otherwise have not been exposed to other children very often and it was a great learning tool for her, being around "normally" developing children.
In 2005, around 6 years old, Stephanie experienced 2 grand mal seizures within a couple of months. CT, MRI and EEG's didn't pinpoint any significant reason for these sudden changes and she was put on Carbemazepine to control any seizure activity. Until spring of 2010, other than Autism and some sleep issues, she continued to be healthy and seizure free. We took her off the seizure medication. She had been developing behavioural/aggression issues for about 6 months and under advice of our team, she was put on Prozac as a trial.
Six weeks later, in July 2010 our relatively normal (raising an autistic child) life changed forever. Late one night, Stephanie called out to me as she always did from her room at some point during the night, which usually resulted in her climbing into bed with me. This time was different. She didn't come to my room. I called and heard her rustling around in her room but she didn't come. I went to check on her and found her standing inside her toy box, facing the wall, on the opposite side of her room. I turned on the light and helped her out of her toys. She couldn't see me. Her pupils were completely dilated even with the light on. I called her and she looked up and around the ceiling. I coaxed her to walk to the bathroom for a washroom break before bringing her to my room. She walked into the sink. I was getting nervous but then she seemed okay and was able to walk to my bed. I already had an appointment booked in the morning with her pediatrician to follow up on how her first few weeks were on Prozac. He believed that her pupils were dilated as a side effect of the medication and that the previous night's episode was sleep walking. He wasn't worried at all. The next night she did the same thing where it seemed she couldn't see properly. I reminded daycare and school that she might be a bit disoriented and that the doctor said it was merely a side effect of her new medication and to keep an eye on her. The following day she was taken to the emergency room by our respite worker. Stephanie couldn't even walk up the drive way. A couple of days later, still in the hospital, she was finally seen by her opthamologist and he discovered that she had major hemoraghing behind her eyes (optic nerves). This triggered doctors to do a lumbar punture (spinal tap) to check her intracranial pressure, which is the pressure caused by the cerebral spinal fluid in our brains and spinal cord. Her opening pressure was 76! It should have been around 10.
Stephanie spent the next three weeks in the hospital undergoing test after test to find out the cause of her increased pressure, as well as increased protein levels in her spinal fluid. Needless to say, the damage had already been done to her eyes, even though we were able to get her pressure down with medication. She remained somewhat blind for a couple of weeks until her eyes healed but now has permanent damage. She's lost her peripheal vision and has some scarring on her optic nerves which probably gives her spots or lost color etc. Another visit to hospital in September 2010 still did not result in any causes for this pressure and it was deemed that she had Pseudo Tumor Cerebri (PTC) or also known as Idiopathic Intracranial Hypertension (IIH). Essentially, this means that she has all the signs and symptoms of a brain tumor, with no actual tumor to treat. She can suffer from excrutiating headaches, dizziness, blurry vision etc.
Since we weren't successful at keeping her pressure down to a reasonable level, in December 2010 she underwent Optic Nerve Sheath Fenestration surgery in both eyes to save her vision. Her opthamologist cut slits into both of her optic nerves, giving the cerebral spinal fluid a way to drain other than putting pressure on her eyes.
Unfortunately, the story doesn't end there. It hasn't ended even now. In March 2011 she started to suffer from seizures. A week long hospital stay showed significant changes in her EEG results. Multiple medication trials helped somewhat but not effectively enough. In June 2011, Stephanie's neurologist thought she finally found the cause, Cerebral Vasculitis, an inflammation of the small blood vessels in the brain. Stephanie was admitted into hospital in order to start an 18 month long treatment similar to chemotherapy. However, the only way to confirm this diagnosis was by brain biopsy. The results were normal, of course. Disheartened that she wasn't able to find a cause, our neurologist referred us to the Sick Kids Hospital in Toronto, Ontario. In October 2011 we travelled to Toronto from Winnipeg, Manitoba. A 2 week stay resulted in no new information.
Her seizures continued to get worse and evolve. She started by having Complex Partial Seizures, but by November 2011 she began having Atonic and now Atonic/Tonic drop seizures. The last time we logged her seizures in February 2012, she was having about 50 in 48 hours, not including the hours she slept. She now wears a helmet to protect her from daily drops and a transfer belt to assist us and her caregivers in catching her when she seizes and falls. She has suffered from minor tissue injuries (bumps and bruises) from these falls and we were advised that we may even expect more severe injuries such as broken bones, jaw, nose, teeth etc. Sure enough, the inevitable happened the day before her 13th birthday. On April 13, 2012 she fell from a seizure at school and broke her collarbone. At this time we were waiting to find out if she was eligible for the Corpus Callosotomy surgery. Due to her increased pressure, which is now at 33cm H2O, the neurosurgeon feels it is too risky to open up her skull and conduct any surgery on her brain. It is now May 2012 and we are waiting to hear about Stephanie undergoing insertion of the Vagus Nerve Stimulator implant. This implant sends electical pulses to her brain to interupt seizure activity. The hope is to decrease her seizures but this is not a cure. Best case scenario would give her a 50% reduction in seizures.
In addition, with the failure to keep her intracranial pressure at a reasonable level, the neurologist is recommending that the neurosurgeon also consider giving Stephanie a VP shunt to drain excess cerebral fluid.
Here we are today...waiting to hear about the next steps in this journey and me deciding to start this blog to help family, friends, and strangers with similar situations understand what we go through, what to expect and mostly how much of a gift Stephanie is to us in our lives. My husband reminded me to also include all the happy moments in Stephanie's life so everyone following us can really see how strong and resilient she is. She is a comedian and the best snuggler on the planet. Just try to not love her! She laughs without fear of the future.
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