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Tuesday, March 25, 2008

Mysterious Wakeful Nights

Roxie has been waking up at night and sometimes staying awake for 4 to 6 hours in the early morning. We aren't sure what could be causing this behavior, but have wondered if the CoQ10 or Carnitor supplements she takes could be to blame. Her dad mentioned that CoQ10 lists sleeplessness as a side effect. The odd thing is that when she wakes up, usually around 1 or 2 am, she acts like it is time to get up. She is full of energy and sometimes we think she will bounce off of her bed. She claps her hands, makes all kinds of sounds, and occasionally makes so much noise she wakes up her little sister in the adjoining bedroom. Some nights we'll leave her awake in her bed since we now have a video monitor system. It allows us to see Roxie when she's in her bed at night and gives us some peace of mind that she's OK. Since our bedroom is downstairs we felt nervous about being so far away from her should she need help. This way I don't feel the need to run up to check on her all night long since I can just glance at the monitor to see how she's doing. Last night Roxie was particularly wakeful and her Dad got in bed with her and reported that she never fell back asleep the rest of the night after waking up at 1:45am. And because she displayed similar behavior the morning that she had seizures and fell ill in January we get a little paranoid that something could be brewing when she wakes up this way. But this time in the morning she was just fine and had a great time at OT and then a great day at school. I don't get it, but lack of sleep doesn't seem to phase her much. I'll mention this to her pediatrician next visit, but I imagine that he won't have much to say about it. Let's hope for more sleep tonight!

Monday, March 24, 2008

Back From Vacation

We are back from a week at Kiawah Island with our extended family (Sprinkle grandparents, cousins, aunt and uncles --12 of us in one house). As usual preparing to take Roxie on vacation is time consuming and stressful (double and triple checked for her meds). But since we drove we were able to take LOTS of her stuff to make sure she'd be happy and comfortable (including her jogging stroller, wheel chair, adarondak chair, high chair, foam flooring, sound machine, and blow-up mattress). And guess what...Roxie had a great time. She enjoyed gourmet food, had fun on a family bike ride, strolled on the beach, and floated around a pool.

To enjoy Kiawah's magnificent tree lined bike trails, we rented bikes and a trailer to pull Roxie around the island so she could join in on the family bike rides. She can't ride in a bike seat because she can't wear a helmet as a result of her intense sensory problems with anything that touches her head (she cries uncontrollably). In a trailer she is safe without a helmet because it has a non-roll feature and side crash bars. Her first try was a disaster and she had one of her fits (throwing her head around, crying and was out of sorts for about an hour even after her dad took her out of the trailer). But that was her only major issue the whole trip! And by the end of the week we decided to try the bike trailer again and this time had McRae, Roxie's little sister, ride along inside. And sure enough with little sis by her side Roxie loved it, laughing and smiling the whole time. By the end of our ride both girls were lounging, looking up at the sky, and totally relaxed. We were thrilled and have just adopted a bike trailer from the Thomas family so hopefully we can take more family bike rides. It is nice to have a new option for something to do out of the house that can include Roxie and still be fun for everyone in the family.

We also bravely attempted a night out at the lovely Jasmine Porch restaurant with all 5 kids--gulp. Surprising us again, Roxie had a blast! She enjoyed she-crab bisque, pumpkin muffins, sweet potato ravioli, and lots more gourmet treats on a special night out. Roxie loved every bite and ate more than all the other kids. The rest of the week was nice and included a few strolls on the breezy beach, a couple of dips in the pool (which was heated thankfully) and Aunt Ellen's brilliant effort to get our wimpy kite to fly.

Unfortunately my nephews were sick much of the vacation with a virus that caused fevers, a bad cough, and fatigue for them. McRae and my niece had come down with the virus by the end of the week as well. We were terrified that Roxie could catch the virus, get a fever, and then have seizures and/or respiratory issues. And now with knowledge of her Mitochondrial Disease we understand that a seemingly small illness can cause Roxie to become critically ill (as evidenced in January of this year). So we were prepared for the worst with her Diastat pen on hand (in case of a seizure), a protocol letter for ER docs about treating Mito patients (believe it or not many doctors don't know much about this disease), and directions to the nearest hospital. But Roxie did not catch the virus and thus far has remained healthy! What a relief!

All in all we had a great time even with both girls sleeping in our room for a week. Cozy!

Sunday, March 02, 2008

Diagnosis: Mitochondrial Disease

In late November 2007, we received a report from Dr. John Shoffner in Atlanta. We took Roxie to meet with Dr. Shoffner in August of the same year, and he used tissue from a muscle biopsy, spinal fluid, and blood samples for the workup which would determine if Roxie had a Mitochondrial Disease. The report read like Greek to us, and we didn't realize (since we aren't neurologists or biology experts) what it meant for Roxie until recently. While Roxie was in the Pediatric ICU in January of this year -- to treat RSV and pneumonia that triggered breakthrough seizures -- a doctor there (the fabulous Dr. Johnson) read the report and explained to us that Roxie apparently does have Mitochondrial Disease (Complex I and III) and consequently we learned a little about what that means. We have not had a follow-up appointment with a specialist, so thus far all of our information has come from Dr. Johnson, from Roxie's neurologist Dr. Nelson, from researching online, and from parents of children with Mitochondrial Disease ... so I will do my best to explain what we know. While we are on a waiting list to find out when we can meet with Dr. Shoffner again (the best they can tell us is "by this summer" ... and yes, this is extremely frustrating), we hope to take Roxie to meet with another mitochondrial specialist, Dr. Bruce Cohen, at the Cleveland Clinic in April who can help us further understand Roxie's diagnosis and how the disease may affect her in the future.

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The following explanation was copied from the United Mitochondrial Disease Foundation's website.

Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the life of the person in whom this is happening is severely compromised. The disease primarily affects children, but adult onset is becoming more and more common.

Diseases of the mitochondria appear to cause the most damage to cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems.

Depending on which cells are affected, symptoms may include loss of motor control, muscle weakness and pain, gastro-intestinal disorders and swallowing difficulties, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual/hearing problems, lactic acidosis, developmental delays and susceptibility to infection.

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That is a basic explanation of general Mitohondrial Disease. However, there are currently 50 known types of Mitochondrial Disease and each case is different. We know that Roxie has defects in Complex I and Complex III within her mitochondria. I have learned that there are five complexes that take place within the mitochondria and each one takes part in the production of ATP which is what the body uses for energy. We now believe the disease has caused Roxie's low muscle tone, epilepsy, developmental delays, and sensory integration disorder and has left her body in a fragile medical state. We hope to learn more about her specific case when we meet with Dr. Cohen at the Cleveland Clinic in April. I mailed Dr. Cohen information about Roxie's medical history as well as the results from Dr. Shoffner's office.

Currently there is no cure for Mitochondrial Disease. There are a few treatments which have shown the potential to slow the progression of the disease in some patients. Roxie is now taking CoQ10 and Carnitor supplements to try to treat her disease and the hope is to prolong the life of her cells. There is a lot of research going on right now that could potentially help Roxie in the future. So we have hope and we are so blessed each day that we have Roxie with us and in good health.