Thanksgiving Drama

For some reason this never posted a few weeks back ...We had a nice day on Thanksgiving with the Evans family in Greensboro.  Roxie loved the special sweet potato casserole that her Nana made for her and she also tried lots of the other yummy dishes.  She seemed happy and healthy on Thursday.  However that night Roxie woke up around 2:30am and her Dad went in to try to get her back to sleep.  He slept next to her for a few hours and then came running in to get me at 5:40 with Roxie in his arms.  She was just beginning to have a seizure.  We gave her the Diastat shot immediately (Valium)  and the seizure stopped progressing. However she continued to have rhythmic eye movement for the next hour, which we think was continued seizure activity.  Then at 6:40 the seizure began to progress again.  We gave her a second shot of Diastat and left for the ER.  The second dose completely knocked her out and stopped any visible seizure activity.  Although we were initially underwhelmed by the old and drab appearance of the ER facility at Cone Hospital in Greensboro, the staff there was great and took good care of us while we were there.  We do now feel blessed to have such nice pediatric ER facilities in Charlotte.  Roxie continued to be stable in the ER and we were discharged by 10:15.  The blood and urine samples taken in the ER to check for signs of infection were normal as was the chest X-ray, so we still had no idea what had caused the seizures.  Roxie was discharged and we went home hoping she'd just sleep off the Diastat and be fine.  But then just a few hours later Roxie started vomitting.  She was sick on and off for the rest of the day and through the night and was extremely weak.  And on Saturday morning she woke up and wanted to eat and then fell back to sleep for the rest of the morning.  We decided to try to go back to Charlotte at that point since Roxie kept food down for 3 hours.  We'd feel more comfortable in case of another emergency in Charlotte.   She had a hard time on the trip home and was still grouchy for the first 3 hours we were back.  But at 3:00 she suddenly seemed to have some energy  and her mood improved.  She continued to get better for the rest of the day.  Then on Sunday morning Roxie was back to her normal self.  We think that she may have had a stomach bug (again). We were sad and frustrated that we were not to be able to see the Sprinkle and Thomas side of the family as we had planned because of the illness.  But we had to consider that the Sprinkle's farm is at least 30 minutes from an ER.  Phelps and I try not to be tied down because of Roxie's medical challenges, but we don't want to take chances when we know she is sick.  

On Tuesday we met with Roxie's Neurologist, Dr. Nelson,  to discuss where to go from here since she's now had 5 seizures in less than 3 months.  The good news is that the eye movement that Roxie continued to have for an hour last Friday even after the first dose of Diastat is a minor seizure and does not cause brain damage.  Also, she explained that epileptic patients who may have never had a status seizure as a small baby or child, may later have seizures that progress into status.  This is because as the white matter in the brain grows because it allows more and deeper connections of the activity.  I guess that made us feel a little better.  She gave us a new arsenal of medications to try to use when Roxie does have another seizure including a tablet that dissolves in the mouth and a medicine that we can squirt up the nose.  And we have a schedule to increase the anti-seizure medications whenever Roxie does have another seizure.  Dr. Nelson did mention that there was a small possibility that Roxie could be having so much more seizure activity because of a stroke.  We have seen no regression, but she said it is possible the stroke is in an area that doesn't affect development.  Dr. Nelson indicated this is a remote possibility, but Roxie is at risk for stroke because of her Mitochondrial Disease.  So we are scheduling an MRI in the next few months just to take a peak at her brain.  We hope and expect everything to be OK, but it was a reminder that in the future complications and regression are always a possibility for Roxie.  

But to end on a happy note, Roxie has been taking steps with her PT and with her teachers at school for the past month.  Her muscles continue to strengthen!  Yeah Roxie!

New Research on Roxie's Birthday

Today's Roxie's sixth birthday. She had a great day, and it seemed clear that she knew it was her special day. Mom made her a cake and she loved her gifts, one of which was an interactive DVD.

Tonight I came across some very cool research. Not sure whether it has anything to do with Mitochondrial Disease, but it's very interesting.

Bracing for Flu and Cold Season

Every time Roxie coughs or gets a runny nose Phelps and I get a little anxious.  It is impossible to forget the severe RSV and psnumonia Roxie battled last January at Hemby Children's Hospital.  I sometimes have flash backs while I'm in the shower of her surrounded by doctors and nurses helping her breath as monitor alarms buzz and beep (a sound that will forever make me tense) or of her sedated and breathing for weeks with the help of a vent.  Doctors had previously warned us that Roxie is "at risk" for severe illness because of her muscle weakness and Mitochondrial Disease.  But until last January we had been relatively lucky as far as her health goes.  And she did finally recover in early February after 17 days in the hospital and a few weeks on a TPN line at home.  Since then she has been relatively healthy.  Unfortunately over the past two months Roxie has had 3 seizure episodes and 2 illnesses resulting in trips to the ER, but luckily no overnight stays at the hospital. Phelps and I are more than a little worried about any illness that this cold and flu season could bring to Roxie.  She had her flu shot a few weeks ago and we stress the importance of hand washing to her teachers at school and CAP workers at home. We know that totally avoiding germs is impossible especially with the kids in her class. But when an illness does strike we are a little calmer because we are more experienced at administering the Diastat shot given when she goes into status epilepticus (a long convulsive seizure lasting more than a few minutes) and know that in the past her vitals have remained stable during the seizures. So although we are worried about the next 4 months, hopefully we won't have any overnight hospital stays or too many trips to the doctor this winter.  Please remember that everyone should get a flu shot and wash your hands more often to keep our community a safer place for at risk kids like Roxie.

The Cure at Troy

As I type, I'm wearing three bracelets, hand-made in Kenya, and given to me by my parents over a decade ago. During the early evening hours as the election results were just starting to come in, my four-year-old daughter, McRae, pulled these bracelets from a random drawer in our living room where I had placed them a couple years ago and said: "Here Daddy, you wear these."

Without hesitation, I put them on. As I did so, I remembered their Kenyan origins, and almost simultaneously, realized that the man I hoped would be named the next President of the United States also had a connection to Kenya. The coincidence was uncanny, but I didn't have time to dwell on it. Instead, I just let it add to the special moment that seemed to be unfolding.

Now, with the results finalized, I can't help but reflect on the significance of all the "uncanny coincidences" that have occurred through this election cycle. But I don't believe any of this has truly been a coincidence. I believe our nation saw a person with humility and statesmanship and vision and fairness, and we decided to act on our instincts. We decided to shake off our cynicism and fear of "being had" and elected someone who we believe can take our best qualities, our greatest strengths, and use them for good and prosperity in America and abroad.

After Obama was declared the victor, the television studios flashed historical images of the civil rights struggle in America juxtaposed with live images of people celebrating from around the world. It was powerful in so many ways. This is a seminal moment in our lifetimes. I believe most people recognize it and will make the most of it. We have a lot of important work to do. And as I wear the Kenyan bracelets that my daughter handed me -- perhaps unwittingly, perhaps not -- I am thankful, proud, and humbled to be living for this and to know that the next generation now has a brighter future.

I am reminded of an excerpt from a poem that hangs in my office. It's by Seamus Heaney, and it's called "The Cure at Troy."

Human beings suffer,
they torture one another,
they get hurt and get hard.
No poem or play or song
can fully right a wrong
inflicted or endured.

The innocent in gaols
beat on their bars together.
A hunger-striker's father
stands in the graveyard dumb.
The police widow in veils
faints at the funeral home.

History says, Don't hope
on this side of the grave.
But then, once in a lifetime
the longed for tidal wave
of justice can rise up,
and hope and history rhyme.

So hope for a great sea-change
on the far side of revenge.
Believe that a further shore
is reachable from here.
Believe in miracles
and cures and healing wells.

Call the miracle self-healing:
The utter self-revealing
double-take of feeling.
If there's fire on the mountain
Or lightning and storm
And a god speaks from the sky

That means someone is hearing
the outcry and the birth-cry
of new life at its term.

Rocco does it again for Mito Disease

Well, Rocco did it again ... he scored millions of impressions for Mitochondrial Disease awareness by homering in the top of the 7th to tie the score at three apiece in the exciting World Series finish on Wednesday night.

Despite the Rays' eventual 4-3 loss in the rain-soaked series, Rocco Baldelli is a HERO to many children and adults living with mitochondrial disease, not to mention their parents and siblings. I hope he is able to keep the awareness train going by really getting involved in the advocacy side of Mitochondrial Disease. Way to go Rocco!

To see just how much something like this provides inspiration, visit the United Mitochondrial Disease Foundation website.

Rocco Baldelli wins the pennant ... with mitochondrial disease!

Kate forwarded me the following email from Donna and Norman Pulliam, big advocates for mitochondrial disease. Amazing.

As you all know, we are passionate about promoting awareness of Mitochondrial Disease. As supporters of the Caroline Virginia Mitochondrial Disease Fund we want you to know when there are interesting stories of others who are battling a diagnosis of Mitochondrial Disease. Here is the latest story that gives Mitochondrial Disease another face for you to recognize.

Even if you have NO interest in the World Series....we thought we would pass along a little tidbit of interest. The Tampa Bay Rays (who were in LAST place in their division earlier in the season) - have clinched a spot in the World Series by beating the Boston Red Sox.

One of their players, Rocco Baldelli, was diagnosed in the spring with a mitochondrial disease. After making his professional debut a few years ago and being considered one of the top rookies of the year, he battled a series of injuries as well as unexplainable debilitating muscle weakness. He has been doing incredibly well since diagnosis...and has even been playing this summer. And in Sunday night's final game of the American League Championship Series, Baldelli gave everyone a moment to cherish. With the score tied in the fifth inning, he lined a single to leftfield to drive in the eventual winning run in Tampa Bay's 3-1 victory against the Red Sox.

We can't help but pull for the Rays now...and for Rocco! If you would like to learn more about mitochondrial disease or Rocco Baldelli, go to www.umdf.org

Thank you for your continued support of the Caroline Virginia Pulliam Mitochondrial Disease fund. With your help, we are making a meaningful contribution to the research and awareness of Mitochondrial Disease.

Kate and I aren't huge baseball fans, so we weren't aware of this on our own, but we are excited about the heightened awareness this brings to the disease. And we are, of course, excited for Rocco, too.

Another ER visit, but all is well

Tonight, another scare, but one that we handled (surprising ourselves) like veterans. We checked on Roxie around 9 pm because she was still awake after an hour in bed. She had thrown up all over the place, and we bathed her, tried to get her to take some medicine, and put her back to bed this time on her blow up mattress in our room. An hour later (we were watching her), she went into status epilepticus (a seizure that doesn't stop on its own). Unlike in January, we were much more calm about how to deal with the situation. We got out the diastat, gave it to her rectally, and five minutes later, she was out of the seizure and sleeping in our arms.

Of course, given what happened in January, we didn't want to take any chances, so we woke up McRae, took her to a neighbor's house down the street, and drove Roxie to the ER. This time, she didn't have another seizure, and she didn't have RSV or pneumonia to cause any complications. We took precautions and asked for a chest x-ray and a precautionary IV to be put in her arm. It was scary as you'd expect, but we were so much more in control, knowledgeable, and empowered this time. Presbyterian Hospital staff were champs as always, and after removing the IV and giving us some sage advice, they allowed us to head back home three hours later. We think she must have a 24-hour virus of some kind that she picked up at school perhaps.

The poignant moment of the night happened when Kate awoke McRae to tell her Roxie was sick and that we had to take her down the street. McRae said "I don't want Roxie to cry" but she stayed positive and seemed calm. We'll be spending some time today explaining things to her. It was very sweet, and I am so proud of her.

Cruising In Kindergarten!

Roxie will finish her 3rd week at Metro School this Friday.  Her transition to Kindergarten has gone better than expected and she seems to enjoy her time at school (for the most part). She is in a classroom with 6 children and 3 teachers.  They have all kinds of adaptive resources (Roxie had a special chair for circle time, a special chair for the cafeteria, a stander, a walker, and loads of special adaptive leaning toys and equipment).  They have music, art, trips to the media center, play outside on the adapted play equipment, swim nearly every week, and more. I couldn't be more pleased.  And to boot everyone in the school that I've met seems dedicated and excited about what they do.  It is an impressive place where I feel comfortable leaving Roxie, even on day one.

After waking the kids by 6:50am and speeding through breakfast and getting ready to go, McRae and I get to school with Roxie at 7:55.  We sit with her in her classroom until 8:30 so she can do her therapeutic listening.  This is a program which involves listening to modified music for 30 minutes twice a day using special headphones with the hope of improving Roxie's sensory challenges.  She usually enjoys listening for a few minutes and then throws the head phones off. An adult has to sit with her for the 30 minutes to encourage/gently force her to leave on the headphones. Phelps and I are hopeful that this program will have some benefit for Roxie over the next few months, but it is a challenge to find the time and remember to do this twice a day. And sitting still for an hour total each day is an exercise in patience in a Buddhist sort of way. It is hard not to want to get up and start laundry, check email, or answer the phone. But now that I do the morning listening session at school there are not many distractions that require my attention and I can be on her like white on rice making sure the headphones stay on.  McRae enjoys looking around the classroom while I sit with Roxie.  She loves Metro, too and has taken a keen interest in the media center.  So much so that after our 5th trip there the media specialist created an account for her to check out books.  This is very exciting for a 3 year old!  She is especially impressed by their expansive collection of Berenstain Bears books. 

I think one of the biggest challenges for Roxie as she began Metro was getting used to spending so much time sitting up. At home and at ES UCP she spent lots of time on the floor (on her back), which is her favorite place and requires little effort on her part.  But I think she's already adjusting to these new demands, although she did bite her Miss Becky one day as she attempted to put Roxie back in her wheel chair (apparently she's had enough sitting that day).  All this hard work at school does make her tired and when I pick her up at 2:45 she's usually ready for some down time (out of her chair) and wants her shoes and braces off.  And in the evening now she's now asleep within 5 minutes of being put to bed around 7:45, so no more banging on her blinds for 30 minutes like she would do all summer long when we put her to bed.  We hope for continued success at Metro and for soon seeing the outcomes of all the work Roxie does there.

New beginnings

This weekend, we planted a tree in the mountains. Roxie rode along to help us pick out the tree (a red maple), and she had fun watching as her sister, mom, and I planted the tree in the front (the "back" if you ask my dad or uncle) of the house late Saturday afternoon. Here's a photo of Kate and Roxie posing with our new tree, the first of many we hope to plant in the years to come.

Empowered

A big weight was lifted off our collective shoulders today. We had our follow up visit with Dr. Shoffner in Atlanta, and it could not have gone better.

The upshot is this: we found out that Roxie almost certainly does NOT have an aggressively degenerative form of Mitochondrial Disease. This means she is unlikely to develop additional problems in other organs (e.g., heart, lungs, G.I. tract) AND that she is likely to have a more traditional life expectancy!

The drive home this afternoon was light-hearted to say the least. We really like Dr. Shoffner, and believe that, along with our neurologist, geneticist, and pediatrician (and various specialists and therapists), we are seeing all the right folks for Roxie's condition. With hard work, the latest treatment options, a hope for future breakthroughs and maybe even a cure, we really feel empowered ... probably for the first time since we started this journey.

Useful handbook on Mitochondrial Disease

Recently, Kate and I attended the United Mitochondrial Disease Foundation annual conference in Indianapolis, IN. We learned a lot, had a chance to have some one-on-one conversations with mito specialist doctors, and met some neat people who are dealing with many of the same issues as us.

One of the doctors we chatted with was Dr. Sumit Parikh. Originally, we were scheduled to visit with his colleague, Dr. Bruce Cohen, at the Cleveland Clinic, but not until October. Dr. Parikh, who we really liked, had an opening in August, so we are now going to see him instead. Hopefully Roxie will tolerate the plane ride better than our trip to Utah a couple years ago ... Dr. Nelson, her neurologist, gave us a prescription for a sedative which we hope will help her.

Doing some research today, I came across this great user-friendly handbook on mitochondrial disease for patients and their families. It is co-authored by Dr. Parikh and Dr. Cohen. Go to the Mitochondrial Medicine Society website, scroll to the bottom, and click on "Mitoland: A Handbook for Patients and Parents" to download the pdf file.

Kindergarten News and Summer Plans

As some of you know Roxie graduated from ESUCP on June 7th. We have an awesome cap and gown shot of her. And yes, we were the crazy parents with the video camera out. I realize it is only a pre-school graduation, but Roxie has come so far and gone through so much so to us it is an exciting milestone that deserved celebrating! Just the day before the graduation we met with Charlotte Mecklenburg Schools to determine Roxie's placement in August for Kindergarten. The meeting went much better than expected and ended with Roxie being assigned to Metro School, which is what we wanted for her. It is the only CMS school for kids with severe special needs. Otherwise she would have been in a special needs class (called a SAC class) within a typical school. We feel at this time she needs a separate setting that has as many resources and experts as possible and we felt Metro could offer this. They have all kinds of great resources, experienced & dedicated teachers, a respected principal, and even two indoor pools! We are so excited and feel relieved that this process is done.

Roxie continues to do very well. She's practicing her crawling every day and will even pull up onto her knees. She's doing much better in her walker and seems to really get that she can move around and shows excitement at her newfound ability. Roxie also is communicating more consistently, has been vocalizing more, and has a few new sounds. During the summer on weekdays and some Saturdays Roxie will work with Farrin (her CAP worker) at home. Farrin has been doing a lot of work with Roxie using switches, which could be a valuable learning and communication tool for her at school in the fall. One of Roxie's favorite summer activities is playing at the pool. She loves the water and will float around happily for a few hours. She even experiments with pushing up to stand as she floats around the little pool, which is less than two feet deep. Phelps and I think that her recent development may be due in large part to the CoQ 10 supplement she started taking in late February to help treat her Mito. It is so exciting and gives us hope!

Our summer is full of appointments for Roxie, both weekly therapy (PT, OT, Speech, and ABA) as well as appointments with specialists. Tomorrow she has her first appointment in nearly three years with Dr. Bugaiski, a Developmental Vision Specialist. He looks at how the eyes and brain interact. She'll see him again the following two Tuesday mornings and then we will get a report at the third appointment detailing his findings and discuss the possibility of vision therapy for Roxie. The first week in July Roxie will see another eye doctor, an optometrist -- the more typical variety of eye doctor who will look at her retina, cornea, ability to focus etc... And in just a few days Phelps and I fly to Indianapolis for the Mitochondrial Disease Symposium where we will listen to the nation's specialists and thought leaders on Mito. That is very exciting and we hope to learn a lot as well as enjoy a few nights away. Then in mid July we are taking Roxie to see Dr. Shoffner in Atlanta to finally discuss his findings face to face. He is the Mito specialist who diagnosed Roxie last November and we hope to find out more results from his DNA testing and perhaps discuss adding another supplement to Roxie's Mito cocktail. Roxie also has to have lab work done and I've already taken her in twice to have the blood drawn to no avail. The first time they didn't have the right tube for the CoQ10 lab and the second time she was too dehydrated and after what seemed like 10 minutes of holding her down while she sobbed they had to give up with only a small vile of blood obtained. I'll take her in for another try next week. Uggg!

We'll keep you updated as we get results and info from our appointments.

Roxie's New Skills

I wanted to post an update outlining what Roxie has accomplished in the past few months. Some of our friends don't see Roxie on a regular basis and several of you have inquired recently about what sort of things Roxie is up to these days. She turns 5 and a half in just a few weeks (her half birthday is her Dad's birthday) and she is growing in new ways and making impressive strides. And she's done it all since recovering from her illness and hospital stay in January. Not only did Roxie reach her baseline (her standard level of health and strength) as the doctors hoped but she has surpassed her own best.

Guess what?! Roxie can now crawl -- up to 6 feet on a regular basis and it is the cutest thing to witness. Just a few months ago Roxie could not crawl an inch and mostly rolled to get where she wanted to go. Now she will crawl 3 or 4 feet usually to get to someone and then she'll lunge up onto that person's lap. Sometimes when the girls are watching a show in our family room Roxie will crawl to the TV and press her nose against the screen, much to her sister's dismay. A sibling tiff often ensues in the form of McRae pushing Roxie out of the way while Roxie laughs hysterically. Watch out little Sis, Roxie's on the move!

And as some of you have recently seen in a photo (shown here), Roxie can now stand up when leaning against a wall for up to a minute and a half. And we don't mean that she is standing while holding our hands or with help from anyone -- which is why she isn't smiling in the picture. Standing is very difficult for her. Considering her profound hypotonia (low muscle tone) this is quite a feat for Roxie.

Plus since late January Roxie has eaten a normal diet. Before her stay in the hospital, she was on a sort of low GI diet, which was a step up from her ultra-restrictive Ketogenic Diet. Now she eats pizza, pasta, sandwiches, cookies, ice cream and lots more. And wow does she love food! She'll even feed herself using her hands, although this can get a bit messy.

But wait there's more ... Roxie also uses the potty every morning after breakfast and every evening before bed. We hope someday she'll be able to let us know when she needs to go but for now this is a big help.

As you can see Roxie continues to make strides. They may seem like small steps for a five year old, but each improvement or new skill tells us she is moving in the right direction. Roxie also has a new CAP worker, Farrin, who works with Roxie 3 or 4 days a week at our home. We hope this extra attention and reinforcement will help Roxie progress even further over the summer as we try to prepare her for Kindergarten!

Watching E.T.

Last night, Kate and I made some popcorn and watched E.T. for the first time in at least 20 years. It's amazing how different it was to watch it as a thinking, questioning adult -- seeing all the allegorical stuff and being very "intellectual" about everything -- versus as a child watching for sheer entertainment. About halfway through the movie, I realized that I wasn't deeply invested in it; I was pretty much analyzing the movie from afar, as a remote observer.

But like all classics, what makes them classics is their ability to reach audiences on a very deep, meaningful level. Classics hit on enduring themes: betrayal, loss of innocence, reaching common humanity, etc. As a somewhat emotional person and the father of a child with special needs, I tend to tear up in movies more than the average Joe. Little things tend to trigger some emotional response, and often I can't say why. With E.T., the reason was clear.

It happened when E.T. is dying and Drew Barrymore's character, Gertie, is shown standing alone watching the doctors rush all around E.T. trying to save his life. My wife and I had commented earlier in the movie how much McRae, our 3-year-old, looks like Drew Barrymore's character, and I guess with that and the scare we had back in January with Roxie in the back of my head, I just started bawling. I don't mean some wet-eyed, sniffing cry ... it was an all out meltdown. I completely lost control. Just when I'd think I could stop, something else would occur in the movie that really hit home. I was immediately and fully invested in the movie, but on some parallel, personal level.

I wasn't just seeing the parallels between the movie and our life ... in my mind, the scenes I was watching were happening to our family: Gertie was McRae and Roxie was E.T. To me, Gertie watching E.T. being worked on by the doctors was Roxie lying on the floor of our foyer being tended to by paramedics that morning. The doctors surrounding E.T. were the same as the doctors surrounding Roxie in the E.R. trying to stop her seizures and then again in the Pediatric ICU trying to get her to breathe on her own while Kate and I stood by helplessly. E.T. is an alien, misunderstood, and cannot communicate in the typical way humans do. Roxie is a very different child and has alternative communication techniques. And on and on. The similarities were so exact and so many of them were happening at once ... so I lost it.

I think a lot of parents of medically-fragile, special needs kids would have the same reaction. We fret over whether we are doing everything we can to help them live and thrive. We dwell on whether we are helping their siblings understand and cope and be strong. We worry about the unknown futures for our families. And we grieve, whether we realize it or not.

And sometimes it comes out in the middle of a movie when we least expect it.

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!

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!

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.

--------------------------------

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.

Back to normal

[February 4, 2008, email to family and friends]

Hi all -

Thought you’d appreciate a brief final update on Roxie. She’s been home for just over two weeks now, and in that time, she has really gotten her full spirit back. She was weaned off all her medications last week, and today we were allowed to stop the supplementary nutrition she was getting nightly through the TPN line. Roxie is happy, strong, and both virus-free and seizure-free ... we love it, and we feel very lucky.

Thanks so much to you all for your constant support.

Love,
Phelps, Kate, Roxie & McRae

Journal entry

It’s hard to believe how bad things seemed a month ago. Waking up to your daughter shaking uncontrollably, eyelids blinking repeatedly, eyes staring right through you. Spending all day and night at her side, her in a medically-induced coma, day after day expecting things to get better and when they do, they turn south again the next day. Having to see your daughter “bagged” and given manual breaths while they figured out how to get her breathing on her own again. It changed me. (How could it NOT change a parent?) I’ve never been as focused on something in my entire life. It FORCED me to focus. Gave me clarity.

Slow down brother. Slow down.

Home sweet home

[January 23, 2008, email to friends and family]

Dear Friends -

Presbyterian released Roxie on Saturday and within a couple hours of being home, Roxie ate her first meal in nearly three weeks. Needless to say, we were ecstatic. She continues to improve and even was moving around like her old self on the floor this afternoon.

We’re weaning Roxie off some of the sedatives she was on for so long in the hospital, and, with the help of a home health agency that’s on call, she’s getting the necessary calories and nutrition through a TPN line (an IV-type line that stays in her arm). Much progress is being made, and we expect to be off all sedatives by Tuesday, and for her to start eating much more regularly at that point (she’s only eating 20-25% of her typical intake right now).

Most importantly, she’s just happier to be home. That goes for all of us, including McRae who has been a great help and loving presence for Roxie despite the frustration of having her family gone for so long and not really understanding it all.

Thanks to all of you for your constant support. We couldn’t have made it through this difficult time without you.

With much love,

Phelps, Kate, Roxie, & McRae

Light spirits on the Peds floor

[January 18, 2008, email to friends and family]

Hi all -

I wanted to let you know that we received some great news from the doctor yesterday. After 17 days at Presbyterian Hospital, it sounds like today or tomorrow should be our last. Needless to say, the mood in Roxie’s room late yesterday afternoon was light-hearted!

Roxie is doing really well, with nice-sounding lungs and seizure control. That said, it has been one week now since she has been off the ventilator, and she still hasn’t taken food or drink orally. Our best guess is simply because she’s stubborn just like any Sprinkle, but we’ve also been told by the doctors and nurses that this isn’t too unusual.

Typically the hospital likes patients to eat/drink on their own before releasing them, but given Roxie’s heightened sensory issues, they agreed that she may be more likely to eat/drink at home in her comfort zone. So ... yesterday they put a central line into her that allows her to get nutrients/fluids through it until she eats/drinks. Along with a nurse who will stop by the house periodically, we will administer all Roxie’s medicines orally and all her nutrition through this central line, that is, until she begins to regularly eat/drink on her own. We were pretty amazed that this was even an option, and we are confident this will get Roxie where she needs to be faster.

From our entire extended family, thank you for your persistent thoughts and prayers, food and cards. This has been, and continues to be, a spiritual and humbling journey, and we will never forget your support.

Love,
Phelps, Kate, Roxie, & McRae

Food from friends is glorious

[January 16, 2008, email from my sister Ellen to me re: dinners]

Looking forward to seeing y'all in a little while.

Wednesday Night (Jan. 17th): Spears
Thursday Night (Jan. 18th): Debbie Rubenstein
Friday Night (Jan. 19th): Ann McCain
Saturday Night (Jan. 20th): Anthony & Samara Foxx
Sunday Night (Jan. 21st): Amedios
Monday Night (Jan. 22nd): Jennifer Hawthorne
Tuesday Night (Jan. 23rd): Cate Martin

Stage two: uncertainties abound

[January 13, 2008, email from Ellen to friends and family]

Hi all,

Roxie is continuing to improve and is resting on the main pediatric floor at Presbyterian. Even though she is getting better, she is feeling miserable and is going through Detox, which is very hard on her and Phelps & Kate of course. They expect that will continue to get easier on her in the next couple of days. They had a scare today when they thought Roxie may be having seizures, but a recent EEG looked good. They are going to do a repeat EEG tomorrow morning to make sure she isn’t have seizures. Assuming this EEG is good, she should be on her way to going home. Please continue to keep them all in your thoughts and prayers. The reality of a child that has been under heavy sedation, pain medicine and with breathing tubes for 8 days, is difficult, since the recovery from so much trauma is hard on anyone, especially Roxie, who has such sensory issues and low muscle tone. But, as we have all seen, Roxie is tough and a fighter, and will hopefully be home soon. Thanks again (I know I have said this so much) to everyone. Please keep the support coming, you are so much of what makes it possible for Phelps and Kate to get through this.

Ellen

Dinner train ... unbelievable

[January 12, 2008, email from my sister Ellen to me re: dinners]

Hey Phelps,

So sorry that Roxie feels so bad. I know it must be so hard to watch her feeling so miserable and not be able to do anything about it. Hang in there, you and Kate are unbelievable parents! Below are the people bringing meals for this week. Four more people have asked to do a meal but I am waiting for confirmation back on the dates following these...I will let you know.

Love you,
Ellen

Saturday Night (Jan. 13th): Joan Rizzo
Sunday Night (Jan. 14th): Allison Hertzler
Monday Night (Jan. 15th): Amedios
Tuesday Night (Jan. 16th): Lance Kinerk
Wednesday Night (Jan. 17th): Spears
Thursday Night (Jan. 18th): Debbie Rubestein

Almir & Amra bringing something Saturday for snacks.
Jonathan tried to bring dinner, told him no.
Chris & Denise Pineno tried to bring dinner, told them no.

Thinking we're out the door!

[January 11, 2008, email to family and friends]

Dearest Friends,

Roxie had her breathing tube (and two other tubes) pulled out this morning and is doing great! She’s breathing well on her own and is relaxing as she comes off all the sedatives. This was a huge step toward being well enough to go home, and we are so relieved. I truly cannot thank you all enough for your thoughts and prayers and gifts and food and everything else. It has been amazing and humbling to experience, and we love you all.

We’ll keep you updated once we know more, but we expect to be in the ICU for another couple days and then probably a day on the main floor before heading home.

Thank you.

Phelps, Kate, Roxie, & McRae

The day I got religion

[January 8, 2008, email from my sister Ellen to friends and family]

Hi all,

I just wanted to get another update out to all of you. Roxie had a tough morning today. They had a really hard time getting her oxygen levels where they needed to be and had to manually give her breaths for about 1 1/2 hours. Her heart rate and other vitals went bad during this time and it was a very scary 1 1/2 hours for Phelps & Kate. Roxie is now stable and has been since the incident was over. The doctors made the decision to switch her breathing tubes to infant tubes (so they are smaller) and these seem to be working. I don’t understand the specifics but they increased the pressure in the tubes but decreased the volume. Because of all the stress to her body this morning, they have spent the afternoon trying to allow her to rest. Therefore, along with the sedatives and pain medicine, she is also on a paralytic drip. They also added a direct line into her arteries to take a constant blood pressure reading so they can keep a better eye on everything. Roxie’s blood readings (alkaline vs. acid levels) are improving and the CO2 levels are also improving. As you can imagine, this was a very frustrating setback, but the doctors and nurses do believe she has turned a corner and is getting better. Her Chest Xrays continue to improve and she has much less secretions coming out of her lungs (they said today that the fluids coming out is now clear, not yellow anymore), so her body is doing a great job of fighting off the RSV and pneumonia. The hard part is figuring out how best to get her breathing on her own. As you all know, Roxie is a special patient because the combination of her low muscle tone and high sensory issues. When they decrease sedation, she is just so sensitive to everything that she gets agitated...so they are moving slowly on this.

They do not know the cause of the crash Roxie experienced today, but one of the nurses believes the most likely cause was a mucus plug in her breathing tube. We don’t know for sure and just pray that it doesn’t happen again. The goals over the next few days are to get Roxie off the breathing tube, maintain seizure control and decrease sedation. All of this will have to occur before they can leave the hospital.

It looks like they will likely be in the hospital for a while longer. If any of you want to do a meal for them and haven’t had a chance yet, please respond to this email. No pressure, just know this email list has grown and wanted to let everyone have an opportunity. We have dinners covered through Sunday (other than Saturday night).

Again, thank you to all of you for your thoughts, prayers, food, visits, emails and phone calls. Your friendship and support of the entire family is more helpful than you can know.

Ellen

A much-needed good day

[January 7, 2008, email to family and friends]

What a difference a day makes.

After a tough Saturday, on Sunday morning Roxie rallied big time. For the past 24+ hours, she’s been steadily improving and her lungs and levels are looking good. I want to thank you all for your thoughts, prayers, and well-wishes. It has made a huge difference to our entire family.

The latest expectation is that we can get Roxie out of the ICU in 2-3 days and then out onto the pediatric floor for a couple days after that. We hope to have her back home by the weekend. The stay is longer than a typical child would experience mainly due to her low muscle tone and sensory issues; everything just takes a little bit longer. Roxie has handled everything like a champ, and so has her sister, who sends messages (and various items!) to Roxie every day wishing her well.

Thanks all. We are a lucky bunch.

Phelps, Kate, Roxie, & McRae

Life in the PICU

[January 4, 2008, email to family and friends]

Our Dear Friends,

First of all, thank you all so much for your prayers and well-wishes. I can’t tell you how much it has meant to Kate and me.

Ellen related to many of you the really great news we got yesterday from the neurologist ... the types of seizures Roxie most likely had on Wednesday were not the kind that would affect her brain development. That was a huge relief.

Roxie’s condition remains stable and she’s still heavily sedated and on a couple of anti-epileptic drugs while her body fights off the RSV and pneumonia. Our goal is to get her to the point where she can breathe and cough up stuff on her own and have her sedation lowered. (They’ve had her on the breathing tube to help her lungs rest while she’s fighting off the crud and so that they can suction out the secretions that build up in there.) We tried to remove the tube today, but she wasn’t quite ready, and we’re going to try again tomorrow. Right now, she’s resting really well.

Once she’s completely kicked this thing’s butt, we will be able to head home ... they are telling us it’ll likely be mid-week. Thanks again to all of you. We are extremely lucky to have such family and friends.

Warmly,

Phelps & Kate

Caring friends

[January 4, 2008 email from my sister Ellen to me re: dinners]

Phelps,

Here is the current meal schedule. Everyone knows that y'all would prefer no company during the hours of 6:30 to 8 PM while you are home with McRae, so they will all plan on dropping off either before then or dropping and running. Jenny Beacham is bringing over some snacks sometime this weekend, I told her I thought some one would be there most of the time so to take stuff by the house whenever.

Tonight (Friday): Robb and Tammie Beatty
Saturday Night: Worrells
Sunday Night: Saldarinis
Monday Night: Nofsingers
Tuesday Night: Prices
Wednesday Night: Maddreys

I will let you know as more people call and email me back. You have amazing friends! They are all so giving and care so much about y'all...cool!

Love you!
Ellen

Follow-up email …

Additions to that:
Thursday: Clifton and Michelle
Following Sunday: Olins

Hope you are doing okay. I love you.

No long-term effects from seizures

[January 4, 2008, email from my sister Ellen to friends and family]

Hi all,

Not much to update since Phelps' last email except to say that the neurologist did confirm the type of seizures Roxie was having were "partial seizures". I don't know much about what that means other than they are harder to get stopped than general seizures but that they almost never cause lasting effects to the brain once they are stopped. Therefore, no one expects that once we get Roxie well from the RSV there will be any long term regression or delays from the seizures. So, that is great news. Roxie has been stable since Wednesday afternoon and is continuing to strengthen. The nurses and doctors have been fantastic, Phelps & Kate are very happy with
her care.

All that being said, Roxie is still expected to remain in the ICU for another couple of days and likely in the hospital for awhile after that. They are basically kicked out of the ICU from 6:45 to 8 PM in the evenings, so they are coming home to spend some time with McRae before she goes to bed and get a chance to have dinner. So, I know a lot of you have asked about meals and if you would like, I know those would be much appreciated. Starting tonight, through the next 7 days would be great for dinners. Please let me know if there is a night you would like to do. It would be great if you could have the meals to their home by 6:15 that evening, since they really would prefer to have down time with McRae once they are home, since they are seeing her so infrequently right now.

Thanks to all of you, if you would prefer to support them through thoughts, prayers, bringing snack foods (fruit, muffins, etc) or in any other way, that would be wonderful too. Please don't feel any pressure to bring a meal if that doesn't work for your family.

Phelps & Kate are so lucky to have friends like all of you and all of your support has meant more to them than you can know!

Ellen

RSV triggers breakthrough seizures in Roxie

[January 2, 2008, email to friends and family]

Hey all –

Some of you know about Roxie’s seizure episodes this morning, but others don’t. I thought you’d all want to know the situation and/or appreciate an update.

Roxie is currently stable and sleeping soundly beside me in Presbyterian’s Pediatric ICU. She experienced a couple of 20-30 minute prolonged convulsive seizures this morning, one at home that triggered a 911 call and the other in the ER a couple hours later. We have had her seizures under control most of today and she is heavily sedated to let her rest.

We found out that she has RSV (Respiratory Syncytial Virus) and her body’s response to fighting it likely triggered the seizures. For some reason, Roxie was showing no signs of RSV (coughing, sneezing, runny nose, much like a cold), but she may have just started down that path last night which, again, may have led to the seizure activity.

As you know, Roxie has not had a clinical (visible) seizure in about 2 1/2 years. The type of seizures Roxie had this morning were different from any others she’s experienced and their prolonged duration are classified as “status epilepticus.” This can be extremely dangerous if not treated but we think in Roxie’s case that we got them under control quickly enough that there will be no long term effects.

Right now, our goal is to get the RSV (and resulting pneumonia) gone, and a that point we will be better able to tell what kind of seizure control she has. Until then, we are keeping her heavily sedated, with a breathing tube, and seizure-control drugs being given intravenously. We expect to be here at least three more days; she is safe and in very good hands.

Please know that we have lots of family support. I’ll either send an update myself or ask my sister to in the next couple of days. Roxie’s a tough nut, and I feel certain that she’s going to be just fine. Thanks to all of you for your thoughts and prayers.

Warmly,
Phelps