Swallow Study

Tucker went for an outpatient Swallow Study yesterday. A swallow study can be performed for other reasons (I suppose) but Tucker has always gotten swallow studies to make sure that it is safe for him to swallow food and liquids without them aspirating into his lungs. As many of you know, Tucker's lung development was the Number One priority for most of his life, so aspirating was a Big Fear! He did not eat by mouth at all for months in the NICU, due to the fear that he was somehow aspirating food, which would get him sick and keep him from coming home. He had his first swallow study right before being discharged from the NICU at 8 1/2 months old, then he had another one at 15 months old. Both of these studies showed that he could swallow just fine, with no worry of aspiration. Of course, this does not mean that he actually DID swallow for us! We have been in a feeding battle with this child from day one, he has so many issues going on with the oral feeds. Since he got his trach out in November, his oral feeds have pretty much come to a halt. We heard from so many people that getting his trach out would make Tucker want to eat more, but in fact he has done the opposite. He can taste and smell the food better, and as much as he wants the food, he is just naturally very scared to let it in the back of his mouth and actually swallow it. Lately, his airway is irritated, so he is even more hesitant to swallow. He often gags and is very dramatic about not swallowing, even when Chris and I brush his teeth. So his Occupational and Speech therapists have really been wanting another swallow study, just to make sure he physically could swallow. When we went to the Mito Doc a few weeks ago, Tucker choked on some Cheetos crumbs, and Mom and I said "swallow Tucker, swallow," then he finally did. The doctor said that should NOT be happening, so we had to have a swallow study ASAP to make sure he was Okay. So I called the pediatrician, and they got us in at Our Lady of the Lake the next week. Gina and I took Tucker yesterday. He was holding his Fritos, which we told him he could have only AFTER he did his feeding work. He doesn't really eat them, he just licks each one of them until there is no salt left! Then he puts them in a neat little pile. People who know Tucker also know to NEVER take any food he offers you! He often licks all of the taste off, then tells you "open!" so that you will open your mouth and shove the nasty food in...pretty gross! So Tucker's OT Mrs. Terri met us at OLOL. He was so happy to see her. We went in and they explained what would happen. The procedure took place in an XRay room. They fed Tucker food with Barium in it, then they watch on the XRay to make sure the food goes down his esophagus and does not come back in his lungs. Tucker was very obedient, when Mrs. Terri told him to swallow, he really tried. The XRay tech kept saying "he is not swallowing, there is no food going down." If you looked closely, you could see that all the Barium was around his mouth, because he literally does not swallow. For months I had been feeding him applesauce and yogurt...he seems to eat, but 10-15 minutes into a feeding, the bowl is still full! It is very frustrating, and Tucker really does try hard. So anyways, the XRay tech was getting frustrated, so finally Mrs. Terri got Tucker to swallow some of the food. The Speech therapist in charge of the study said that Tucker is physically fine with swallowing, so we can resume regular feeding therapy. She was really concerned with Tucker's lack of oral motor coordination, especially because she knows we have had fantastic therapists working with him since his discharge over 3 years ago. She said that Tucker is just one of those kids you only meet once or twice during your career, who just makes you feel like you are racking your brain, using every technique you can throw at them, and nothing works.....then one day they will just click and start eating. I think that made the OT feel a very small bit better, but not much! So after Tucker's tonsil and adenoid removal this Thursday, along with his recovery, we will go back to serious feeding therapy. The speech therapist said that Tucker's entire world changed when his trach came out, and it makes perfect sense that his feeding would have stopped. He is also very aware of his irritated airway, she said he is a very smart kid who knows that something is going on that is affecting his breathing, and therefore his feeding. Tucker was very obedient during the whole procedure, and did what we all asked of him. Gina watched from behind a glass window so she wouldn't be exposed to the XRays (Mrs. Terri and I wore protective gowns), and she thought it was very odd to be looking at Tucker's skeleton:) She said he has a huge head, which is hilarious since he has been diagnosed with closed sutures and microcephaly (small head, even below the 3rd percentile for heads of other 3 year olds). As soon as we got in the car, I opened his Fritos as his prize, he was so happy!

Appointment in Houston with the Mito Doctor

Tucker went for a follow-up appointment with the Mitochondrial Specialist a few weeks ago. I know many of you are concerned and wondering how it went, and what it all means. Back in June 2009 a specialist suggested that we get genetic tests run on Tucker, by this point he had just turned 3 and it was obvious that his delays and medical problems were not due to prematurity alone. So after months of testing, we ruled out many things. The tests kept pointing to a mitochondrial disorder, but the geneticist was not sure if we should proceed with further invasive testing. Mitochondiral disorders are a relatively new field, they are hard to understand, and very hard to diagnose. The dr. started Tucker on 3 supplements, CoQ10, Creatine, and Calcium. This is the first step in treating mito. There are only a few mitochondrial specialists in the country, one of them being in Houston at Memorial Hermann hospital. A friend of mine (I met her through the March of Dimes) has a son about Tucker's age with mito, and she suggested that Tucker see the specialist in Houston. She said that if Tucker did not really have mito, that would be great to know, and if he did have it, this doctor is the best doctor to help us to manage it. Kids with mito have very specific protocols for being put under anesthesia (which we don't follow right now) and how they get nutrition (which we also don't follow right now), so a diagnosis could potentially change many things. So i made the appointment then waited...In January Mom, Gina, and I took Tucker to Houston. I compiled Tucker's whole life story (which is fairly long for a 3 year old!) and sent every medical record he had to Dr K. After a consultation, she said she thought Tucker was far too healthy to have mito, and perhaps more genetic testing would help. Tucker got blood testing and urine testing that day, but we left Houston feeling okay. We still did not have an answer, but we felt confident. This dr deals with mito every day, so if she said he didn't have it, we felt good about her opinion. So we made a follow up appointment for March. Again, Mom, Gina, and I took Tucker. This time we stayed with my friend Missy and her precious kids in Houston the night before the appointment. Samuel has mito and has to be monitored very closely. We knew there was a chance he could be in the hospital, so we were so glad to hang out with their family. We went to the appointment and updated the doctor on Tucker's new problems. (His airway has been very irritated, he is going in on April 8th to get his tonsils and adenoids removed, as well as getting his airway strengthened, depending on how bad it is. He has very bad sleep apnea and has been having trouble breathing.) The doctor told us the majority of Tucker's tests came back normal, but his Pyruvate level was double the normal rate, which is very suspicious of mitochondrial disorder. She seemed surprised, and she asked if we wanted to continue further testing. We do, because the tests will help to learn as much as possible about what type of mito disorder, as well as the extent, and the possibility of this appearing in future children. The next step is a muscle biopsy as well as a lumbar puncture (spinal tap), which will both be performed while Tucker is under anesthesia. These will hopefully take place in June, then we will get the results in August. So at least two more trips to Houston are in our near future, with lots more waiting. We did not expect this answer at all, the more I learn about mito, the more confused I get. It can take on so many forms, so there are some things that are just so "Tucker" about it, and some things that are not. We have wanted an answer for a long time, but we don't want this answer. We know that Dr K must really suspect mito, because she does not take this invasive testing lightly. You can read about mitochondrial disorder here: http://my.clevelandclinic.org/disorders/Mitochondrial_Disease/hic_Mitochondrial_Disease.aspx Basically, if you remember the model of cells in biology class, the mitochondria are the "powerhouse" of the cell. They do the work. When there is a problem with the mitochondria, the whole cell and organ can shut down. The mitochondria of any type of cell can be affected, so it can lead to problems with neurological cells, muscle cells, etc. Each patient is affected differently, so two cases of mitochondrial disorder are rarely the same. Thanks, Leigh WELCOME TO HOLLAND by Emily Perl Kingsley I am often asked to describe the experience of raising a child with a disability- to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this... When you're going to have a baby, it's like planning a fabulous vacation trip -to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting. After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."" Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy." But there's been a change in the flight plan. They've landed in Holland and there you must stay. The important thing is they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place. So you must go out and buy new guidebooks. And you must learn a whole new language. And you will meet a whole new group of people you would never have met. It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around... and you begin to notice that Holland has windmills... and Holland has tulips. Holland even has Rembrandts. But everyone you know is busy coming and going from Italy...and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned." And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant loss. But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ...about Holland.

New Issues

I have not posted in three months! I spent the summer home with Tucker, so you'd think I'd have had time to write an entry or two, but I did not. Now we're back to school, and work, and Tucker has his nurses back. I had two weeks of this new routine before Hurricane Gustav hit-it was truly unbelievable what that Hurricane did in the Baton Rouge area, we were out of power for six days, and many roads were impassable. We had a generator, so Tucker was fine-he had A/C during the day, and his vent at night. There was really no choice but to play outside all day, so Tucker had a blast! He ran around, rode on the four wheeler, rode on the lawnmower, and was spoiled rotten by his grandparents and aunts and uncles. This first week back to "normal" has not went so well, he still wants to be outside all day, and he follows me around-we were literally stuck at the hip for ten days, even at night, during the hurricane, and it's hard to wean us both from that. So, medically, Tucker is on CPAP at night, which is still the vent-it's just a better setting. He had a sleep study about a month ago, we got the results Thursday-his lungs are fine, but his CO2 is getting too high to get off the vent because he is having seizures. He had them all night, and the dr has to go back and look to see if the drop in CO2 causes the seizures, or if the seizures are causing the drop in CO2. He thinks his lungs look way too good to be the cause. So we are going to the neuro in a few weeks, hopefully we'll get some answers. I watched him that night during the sleep study-he didn't have any visible symptoms of seizures. My friend Kristin (Mom2Kamryn) thought maybe he's having silent seizures during the day as well. Tucker has times where he stares into space, and if you call his name he doesn't answer. Then there are most times where he's very attentive. His therapists have been thinking he has PDD or is autistic because of the lack of eye contact, and because it takes him so long to learn new things. I think maybe the seizure idea could explain those same symptoms. Meanwhile, we are dealing with sensory issues galore! Tucker loves loud noises and big, rough movements. He is happiest when rocking in a rocking chair or swinging outside. He licks everything, and I wonder sometimes if he gets enough input from his fingers to really feel things. So maybe he needs to feel things with his tongue to understand. He only signs "mommy" and "more" well for me. But the "mommy" sign is so cute! Because he says it when he really wants me, and I can't resist picking him up. So I guess that's enough for one day, I'll start updating more often so that I don't have so much to say!