The Diagnosis - Leigh's Disease

This might be the hardest post we've ever made. We knew this day might come where we may finally get an answer, but not all answers are the ones you want to hear. Braden has been diagnosed with either Leigh's Disease/Leigh's Syndrome or Leigh-Like Disease/Syndrome. It really doesn't matter, as the outlook and prognosis are the same. Braden has shown signs/symptoms since his birth, so his outlook means we are already on "borrowed time". (If anybody has any songs or poems you could send me about being on borrowed time, I'd love to have them). But ultimately, we are ALL on borrowed time. God is the only one in control, and we are not giving up hope, that God will bless our family with more time with Braden. I guess no matter how much time we get, it probably won't ever feel like enough.

Braden is such a fighter, so his fight may buy him more time with us. We have put him on the supplement regimen, what they call a "mito cocktail"... his will consist of CoQ10, thiamine, and carnatine for now. The supplements cannot cure his disease, but they can help make him more comfortable, and may help slow the progression of the disease. Braden also doesn't perfectly fit into all the things associated with the disease that are symptoms/markers/indicators... like "failure to thrive" is not in his vocabulary, as the double chin, puffy feet, dimples for knuckles, and the size of his wardrobe will all tell you.

We still believe everything happens for a reason, and this visit to OLOL is no exception. If our doctor had not wanted Braden to have this special ventilator, we wouldn't have been waiting around for an extra few weeks, and allowing us to come to the decision that since we had the time, and it had been a year since Braden's last MRI, that we should use the time to get a good look at his brain to see if there were any notable changes. And if the ventilator wouldn't have malfunctioned, we would never have gone back into the hospital, and Braden would not have been in such a worrisome condition which prompted a new MRI to compare it to the one before we left. Since both MRI's showed signs of progressive brain damage, we did an MRS (like an MRI, but looks at the cell function in the areas where there is damage) which confirmed the suspicions of our neurologist that what we have is Leigh's disease, and it IS progressing. We do know the area of the brain that is affected is related to his respiratory issues... and they say that these kids usually die due to respiratory or cardiac complications. The closest thing I can tell you about what we can expect is that he won't die of the disease, he will most likely suffer complications from respiratory failure or cardiac failure. In our case, it will probably be respiratory.

So where do we go from here? Well, we have a new ventilator (totally different brand), the LTV 950. Braden will be "resting" on the vent for several weeks as we transition him home into our regular routine before we can start trying to wean him off again. Want to hear some good news? Our little man has been on ROOM AIR with the vent for a whole day!! He is not requiring any oxygen support to maintain his sats in the 97-100 range! This means he is able to oxygenate on his own! :-) Our medical team will be doing what they can to get us home as soon as possible, so we don't spend any more time than necessary there.

THE BIG MEETING:
We did meet with Braden's entire care team: intensivist, pulmonary specialist, nursing manager, respiratory manager, social worker, vent/supply company, and the overseeing physician (who also happens to be our cardiologist). They were all extremely receptive to our concerns about what happened to us, how to make sure this won't happen again to us, and our suggestions on policies/procedures to implement to ensure better quality care for ALL patients who follow in our footsteps. They had already recognized one major breakdown in communication, and Tuesday had started what daddy and I are affectionately calling "Braden's Rule"... where the specialists, intensivists, social worker, child life, pharmacy, and respiratory all do rounds together at the same time (like a mini-family meeting) once a week for ALL vent-trach patients!! We were so pleased to see that they were already taking steps to ensure future family communications were more inclusive for all parties responsible for Braden's care (and the other kids too)!!!! We made some suggestions on transitioning from the hospital to home too that I think they will take to heart and try to implement for families going home on vents. They thanked us for taking the time and having the courage to confront all the issues with the entire team responsible for his care, and they thanked us for our candid comments and suggestions on how to make it better for EVERYONE. It made us feel like what happened to Braden was not all for nothing, they really do want to implement change where it's needed. They realized this need for change, because it could have ended differently if the parents were not as involved and astute to their child's needs like Brad and I are. It was a wake-up call, and they responded in a manner that makes us more comfortable about the future.

If you'd like to read more about the disease, here are some links:
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=narp
This one is the most comprehensive and the exact same 32 page print-out the neuro doc gave us, and a lot of it is doctor-speak that's over our head, but there is some really good info if you sort through it to the layman's portions:-)

http://www.ninds.nih.gov/disorders/leighsdisease/leighsdisease.htm
http://www.healthline.com/galecontent/leigh-syndrome
http://www.rareglobaldiseases.com/leighs_disease.php

Continue to pray for us. Braden needs strength and healing so he can come home. Mommy and Daddy will need strength, courage, patience, peace, and wisdom as we start making decisions about his care, and put together a plan for future parameters on how much support we will give our son to sustain his life, because technically the body can live forever on a ventilator. These are not easy decisions, and ones we probably won't share with everyone, as these are very personal decisions we have to make, and no matter what we decide, I am sure there will be opinions on both sides. I remember feeling gut-wrenched over the woman in Florida who's husband and mother did not agree, I would have never imagined that one day we could be in that situation too. We are praying for God's hand to guide us and let us carry out His will for our son. After all, my friend Stacey always reminds me that Braden does not belong to us, we were only asked to care for him here on earth for the amount of time decided by the Father. We will have to give him back someday, I pray that we have the strength for when the day will come.

We still have HOPE. Braden has already beaten the odds so many times it's almost unfathomable how much he is willing to fight to stay with us. We will keep HOPE that Braden being the anomaly that he is (because he still doesn't perfectly fit into Leigh's with all the symptoms), that he will once again prove the doctors wrong, and we will talk about our diagnosis for many years to come. Maybe we can be that 25% who lives longer than the current expectation.

Thanks for all your continued support, and for the prayers we know you will be sending up in the days ahead. We need them.
God's love and blessing to everyone!
The Wilson's (Braden, Kodi and Brad)

Braden's Song and more tests

So we inch closer to a diagnosis, they do more tests and we had an MRS today (a spectroscopy MRI that looks closer at metabolic activity in the brain). And even should we get news we don't want, we will continue to pray for God's guidance, to give us wisdom to ensure we are carrying out His will for our little angel here on earth.

So while we wait for more answers, I thought I might post a little song I wrote for Braden after we came home from our trip to Texas Children's Hospital in Houston. It's not professional nor fancy, just a mom singing a tune for her precious child.

"Braden's Lullaby"

Braden, Braden how was your day?
I hope that you had fun today
Now that we've had bath and play
It's time to take a moment to pray


Father, thank you for this day
I thank you for my health today
Thank you for my mom and dad
Loving them makes me glad

Thanks for friends and family too
I know that they pray to you
Thanks for blessings big and small
Bless us one, and bless us all

Braden, Braden how was your day?
I hope that you had fun today


More updates we hope to share later this week after our big hospital "family meeting" and follow-up meetings with some of the hospital administration.

We plan on having a NEW VENT for Braden very soon, but the transition may take a few weeks. Ugh. So pray we get to take our little guy home in time for Thanksgiving... won't it be just the thing we are most thankful for?? :-)

The Wilson's

Ventilator malfunction and bad settings put us back at OLOL

Friends and Family -
I'm not sure where to begin, as we only tasted four sweet days of freedom, and they weren't very "free" and they have come at a price. You know we are not medical professionals, and are limited to only knowing something is wrong with Braden when something becomes outward in it's manifestation, or his pulse-ox tells us he is not oxgenating like he is supposed to.

What I didn't tell you, was that when we put our ventilator on it's internal battery power, and we were loading Braden in the car to leave the hospital, it was not working properly, and we had to bag Braden for about 10 minutes before we discovered that his oxygen line was not turned on (however, the vent should still have worked properly, as Braden is NOT oxygen dependent). The ventilator seemed to not be working correctly, and just as we were about to give up and go back into the hospital (after about 20 minutes of alternate bagging and ventilation) the machine seemed to right itself and Braden seemed fine. Since we were told the machine had 2 hours of internal battery at max settings (and Braden is on minimal support settings), when the battery was flashing half full, we had to decide: back in the hospital or race home for power. We chose to race home, and once we got him plugged in and set up at home, he seemed to be just fine.

As Monday came, we discovered that the machine still would not function properly on internal power, but plugged into the lighter - all was fine. However in the coming days, as Braden would be transitioned from the home to the car, or the car to the daycare, or the daycare to the car, the machine would consistently not provide enough support for Braden - and we would end up in situations where we would have to support him with bagging until his machine would "catch up"... it seemed it had difficulties in the transition process.

Tuesday he seemed more sleepy than usual, but we thought it might be related to the incoming of the cold front, adjusting to our new routine at home, or possibly just catching up on some quality rest he couldn't get in the hospital. But when Wednesday came, and he was even more sleepy and unresponsive like a rag doll, we got a little worried. When that afternoon he began taking big deep recovery breaths twice a minute, we thought he needed help with a breathing treatment - and it did help for a few hours. But that night when the deep recovery breaths returned twice a minute and he was rag-dolly, we knew he needed help.

As soon as we had arrived in the ER, it wasn't two minutes in that transition that Braden started to drop his sats again and I had to yell for an ambu-bag to help him breathe, and they rushed us right back, and got us put on a hospital ventilator. After nearly 5 hours on the hospital vent, they decided to take a blood gas... and his CO2 levels were through the roof at 81 percent!! His chest x-ray was clear, probably the best one he's ever had, so we hope we won't have to be fighting a pneumonia too.

Since we are not medical professionals, we rely on them to care for Braden. In retrospect, mommy and daddy when reviewing his settings, it became obvious that this vent was not set for minimal life support should Braden suffer a neurological episode or become apnic. Daddy also discovered as we put a test lung on and tried to mimic Braden's breathing on the hospital vent, that Braden would actually have to FIGHT the vent to breathe over it, and he was on these settings for two weeks... our little man was probably fighting the ventilator for that long!

So here is the bad news... once his body gave up, the minimal settings were not enough to support his life (the whole purpose for the vent). We believe at one point he was put into a state of constant seizure - so they put him on an EEG and saw lots of seizure activity - but Braden has always shocked technicians who have never seen his EEG before. So they attempted to treat him to bring him out of this "status epilepticus", and he seemed to respond.

Yesterday we repeated and mri to compare it to the one we had 2 weeks ago, to see if he suffered any brain damage or swelling, and he has both. The swelling is nothing they are concerned about, as it occurred with the new damage, so now we are focused on the outcome of the new brain damage. He does not have NEW areas of brain damage, but the previous areas that were damaged by the suspected hypoxic event near birth have grown in size and have seemingly progressed. There is no definite as to what this will mean for Braden, or if it will have a profound, if any, effect on him.

Some hopeful portion of this story, is that Braden has seemed to make his way closer to his pre-ventilator-incident-state. They were not planning to sedate him for the mri, but as soon as they started making their way there, he started kicking about. And then he messed up the whole bed with a dirty diaper. They put him in the mri machine and he started kicking his legs again, and they tried to calm him by rocking him. That lasted about a minute. So they ended up sedating him for the mri - doesn't that sound like our regular, fighting-spirit, spunky Braden? To me, that's a good sign.

We will AT LEAST be forcing a family meeting with the pulmonologist who is ultimately in charge of the vent settings, the intensivist who sent us home on the wrong settings, a manager over respiratory therapists (because at some point they should have recognized the settings wouldn't be quite right if Braden needed full support of the vent), and additional hospital medical personnell. We will also make sure our DME RT (Durable Medical Equipment company's Respiratory Therapist) - they provide the ventilator - is also there, and if we can make it happen, a representative from the manufacturer as well. I've done enough crying for now about the situation, and now I am mad. Brad, bless my loving husband for not only having to go through this with me, but he also has to manage me and my angered opinions, so I don't make drama and Braden gets what he needs right now - he has been my rock once again.

Pray for us, we have really been through some difficult moments and hours these past days, and need all the support we can muster up. We know ultimately Braden is in God's hands, regardless of human error, and that His will shall be done. Pray he gives us the strength to cope with whatever the outcome may be.

Home Sweet Home at Last - 61 days at OLOL

Finally we got to bring Braden home Saturday, for mommy's birthday! We spent 15 days in August with an 11 day hiatus at the end of August before going back for another 46-day stretch. If you've never stayed in an ICU unit, you just can't comprehend how exhausting it really is... all the beeping, the alerts, the lights always on, the patient care every 5 minutes for something new - being on "the floor" is a whole lot more waiting and downtime that you just don't get in the ICU. It wears you to complete exhuastion, even Braden was ready to get out and fussy to go home!

It will take a few weeks for us to adjust, and really to catch up on "good sleep" without all the constant commotion. We are all in transition and working out the hiccups in our routine. With nobody in LA ever having this ventilator, and the provider not familiar with it, and the salespeople telling you things it can do that it really can't... we have had lots of ups and downs with the nuances of the new ventilator. I already have TONS of feedback for improvements on a new model - think they'll pay me to be a "patient consultant?" Probably not, but one can always hope.

Braden is back to daycare, and the kids are so sweet with him and they ask lots of good questions about his equipment. Little Jazmyn... let me tell you about her. She is Braden's personal bodyguard and "the boss of him" if you don't already know. While Braden was in the hospital, I was told that I would get a whipping (she said it more like "whooopin", though:-) ) with the Dora belt by JazMyn if I didn't bring Braden back soon. She moved his extra outfits to her "cubby" so nobody would touch them, she made LaTacia take home and hide his boppy from the crib so nobody would bother it, and she missed him so much one day, she crawled up into his crib and when Tacia asked why, she said she just missed Braden. When we finally showed up Monday, she told me she was "so worried about Braden". PRECIOUS PROTECTOR of my son... you just have to love her to death. She spent all day Monday coming into Braden's room giving him kisses, holding his hand, and placing his hand open on the chair (reminds me of all the things cousin Paxton does with him!!). (Braden is staying in the nursery until he can come off the ventilator and cpap... then eventually he will get to sit in his chair in the big room with all the other kids:-)

So we are "ADJUSTING" for the next few weeks, and of course will post again soon with new adventures to come!! We can't thank everyone enough for all your support during these past months. We will continue to pray for our friends still in ICU (Millicent Bradley & family) and those who have gone home already (Leah Banh & family) that God continues to heal their little bodies and keeps them in His care.

The Wilson's: Kodi, Brad, Braden

Muscle Biopsy Back, More Procedures

So we begin Week 5 straight here at OLOL, but we've been here now for 7 of the past 9 weeks. (Remember we got those two weeks "off", when we got our sleep study and braced for Gustav). We have lots going on while we wait.

Friday we got our muscle biopsy results. The good news, is that whatever we have is not a mitochondrial disorder. Mitochondrial disorders are typically quickly progressing, meaning most children have a life expectancy of about six years old, but many are lucky to make it to eighteen years old. There is also no cure for mitochondrial disorders. So we are happy not to have this diagnosis. Another advantage is that we still don't have an indication on life expectancy, so we aren't always waiting for the other shoe to drop, so to speak.

The mixed news is that we still don't know if it is genetic or not. We still don't have all the answers yet, or a diagnosis, but our neuro will be sending the results off to our geneticist at Texas Children's, and is even consulting with an old professor in genetics. Whatever we have is so rare at this point - that the more heads that are processing all the information, the more chance we have at possibly pinpointing something. Here is what we DO know... his muscle shows increased levels of lipids and glycogen, and one particular protein looks slightly abnormal - it's called dysferlin. Dysferlinopothy (abnormality in dysferlin) is typically associated with Muscular Dystrophy, which we have already been tested for and do not have. So really all we are able to conclude at this time, is that whatever syndrome we may have, it might be similar to MD.
So we have to assume it may also be degenerative, but we still remain hopeful and focused on enjoying every day we have with him and doing things with him as we would with any normal child.

So today we have an MRI done, since it's been over a year, and at a young age the brain grows and changes so much - it's a good to see if there are any changes or if we see anything new.

Today we also had an EKG/ECG (electrical heart activity) and echocardiogram (sonogram of the heart function) done on his heart. The echo results show less than normal productivity, so we will also now be seing a cardiologist. We don't know yet what this means, but if Braden has slight muscular abnormalities (muscle myopathy), then we must also consider that the heart is the biggest muscle of the body, and his syndrome may also affect the heart too... but just because the heart is a muscle and a biopsy came back with some abnormalities, the heart muscle is very different and it's own category comparatively, but we are trying to be proactive at this point.

The bottom line is, nothing in life is certain, even a diagnosis. We have only continued to push for answers because we still want to have more kids and we really want to be informed as we plan for the future of our family. We will continue to love Braden the best we know how, for however long we are blessed to watch over this special child.

Our neighbor Kathy came by today to bring Braden a new frog - isn't it sweet?

The other photo is depicting some therapy: the therapists gave Braden half tennis balls to tape his hands too to keep them outstretched and in a relaxed position... you can imagine that keeping that thumb of his tucked in between his index and middle finger is creating a constant gap, even when his thumb isn't wedged in between them. While it's one of the special things that makes Braden so adorable to me, I know at some point he will need to overcome this "new normal" as he eventually figures out how to use his hands to grasp and hold items.

We will post more pictures as we take them. We now know how much you love them!
Kodi, Brad, and Braden

His New Wheels and Another Successful Round of Surgeries

So Braden seems to really be enjoying his new set of wheels, and we sure hope so, since they cost more than the cost of mommy and daddy's first cars combined! :-)

His therapists and entire medical team are so pleased to see him get in his chair every day. I had to laugh at Braden yesterday, when PT and OT came in to work with him, and he fussed them the entire time, and as soon as he got into his chair and they started working with him - HE FELL ASLEEP!! It was so funny. He is such his own person, we take such joy in watching his little personality continue to come to life. Although he is nonverbal, he certainly knows how to communicate unhappiness, satisfaction, and comfort.

Today they did a bronchoscopy on Braden to see what his airway is doing, and to measure him for a custom trach tube. They also took a small biopsy (doc says out of 300 he does a year, he may do take 1 biopsy sample, so I guess we are that one). We may know something as early as next week. The bronch showed that Braden's upper airway lacks muscle tone nearly completely, and therefore that's why his airway was closing off so often, and why his oxygen saturation was always well below normal. This reconfirmed that the trach was the RIGHT procedure to do for Braden. Now that he keeps his O2 sats in the 97 - 100 range, his carbon dioxide saturation is way down, and so are his seizures!! We are down from 4 - 6 seizures a day, to only 1 or 2 a day!! YEAH!!

We are still waiting for the results of the muscle biopsy, and we keep our docs and nurses busy with questions daily about when we will know something:-) Our timeline is now in the hands of what I will call the "vent gods", because we still don't have a local provider to order one for us, so for now, we are at the mercy of what has been described to us as a game of "medical CHICKEN". The local provider won't order just one, they have to have been sure there will be more -check, that's been done. The insurance company would prefer we use whatever the local provider is getting a good deal on (read: making the most money off of, and cheaper rate for the insurance company). Our specialist says he won't budge on taking anything other than this new specific vent he wants for all his new patients - it's better for us as it's smaller, quieter, lighter, and better battery life. So now the specialist won't release us from the hospital until we get the right vent (PICU daily charges are by no means cheap for the insurance company), so it will be in their best interests to just comply and give us what will be best for Braden. We are the first family to use this new vent, so at least our struggles will make it easier for the patients here in BR to follow us in getting this new vent. We are getting used to being pioneers in our own way, at least Braden is anyway. Oh well, if God has taught on anything on our journey, it's how to be patient and flexible at the same time.

So we will still be living here at OLOL for the time being, we will send an update when we have more news to share!
Kodi, Brad & Braden