We are at home!

Goodness, when things start rolling I forget to update this thing.

They released us Thursday after lunch and we were home by 2 or 3 pm. We were greeted by my Mom and Brian's parents and Jocelyn and it was a HAPPY reunion. Mom had made a chicken soup and we ate well! Patrick loved it!! He had been pretty disappointed with the Gerbers offerings at the hospital.

We had a nurse come in Friday to teach us about the feeding pump, though we are pretty familiar as it is exactly like the one Daniel had. But the nurse was nice and it's always nice to have a refresher. That nurse will be available to us here in the house if we need help regarding the pump or Pat's button.

Other than that we are taking it easy here at the house.

You can't tell from his picture but we had a rough night. Patrick's feeding goals were a little advanced for him and it caused him some gagging and discomfort. So we set his feeding rate back and did a little better.


That means we aren't sure we are coming home today. The nurse said typically they keep the patient until they've achieved the goal. But we just have to wait to see what the dr will do.


But he has lots of smiles today and is pretty chatty. His Meme spoiled him last week by pureeing up her chicken spaghetti so he thinks Gerber's purees taste pretty bland tody!

I will keep updating about whether we can go home or not.

Day two

It is day two here in the hospital, and the Dr said we can try Pedialyte this morning. We will see how he tolerates it and work our way up to a decent portion of formula.

Last night I met a great resource who is managing our supplies so that we go home with everything we need. She is a case manager and so she thinks she can get our speech therapy lined up to come out to the house. That is great news as speech recommended 2x per week visits.

I think we managed his pain as well as we could through the night. The surgeon offered to bump his prescriptionfrom high powered Tylenol and Motrin to morphine, but I really think the Tylenol and Motrin are doing the trick. He is smiling and cooing a bit; surely that is a good sign.

Surgery

The surgery went perfectly. They were able to use a scope so that should minimize scarring and it should be less painful (if that's a thing). He has to wait until tomorrow to eat, but the Dr said it is very unlikely Pat will even want to eat.

We will see him in about 20 minutes so I will get a picture so you can see him too.

I love you all for keeping Patrick in your prayers this morning.

Tomorrow is G Button Day

Patrick's pre-surgery appointment went fine. They pretty much just looked him over and confirmed all his medical history.
Surgery tomorrow will begin at 8:30 and is expected to run from 1-1.5 hours. We will likely be in the hospital with recovery and training on the proper feeding for Patrick for 2-3 days.
I will try to keep you informed.
Patrick is cranky today, but I think he is mostly just feeding off of my nervousness. I know we are making the right decision, and that we have the most capable surgeon, but I would guess no mama wants her baby in surgery.
We covet your prayers, for rest tonight, and steady hands tomorrow and all the other wonderful things you guys add when you go before the Lord on our behalf.

Love you,
Lessie

Q and A

Hi everyone! I've been getting a couple of the same questions, so I wanted to fill you all in. Last Wednesday when the nurse came to collect Pat's blood sample she was unable to get his vein,  and was super soft hearted and didn't want to stick him more than once, so she called in her big guns! On Saturday a super sweet nurse came and got his sample on the first try! She did such a good job and we were all so grateful and also impressed that she was done so quickly! Blood draws have been anything but easy so far!
We don't know how long it will be until we have results, but we do have an appointment with the Neurologist in August, so I'm kind of praying we might know something at that time.

The surgery date is next Tuesday. Patrick will have a pre-op appointment Monday late-afternoon, and then go into surgery in the wee hours on Tuesday for his g-button. The g-button is a way for us to add more calories to his diet. He will still eat by mouth, but we can ensure he's meeting his caloric needs by adding formula. Also, many of you have asked if this is a permanent fixture for Pat. It is not. Once he is taking enough food by mouth and not having any serious gastro problems it can be removed. One of our dear friends showed us her son's g-button scar, and we gave thanks over and over that her child no longer needed his, and that is our hope for Patrick - that this will be a tool that gets us to a place where we can maintain in a more normal way.

Also, both of our parents will be here for the surgery so we have lots of coverage! Thanks for the many offers to relieve us, but we'll be calling on you as our parents have to return home in time.

That's it for tonight. Thanks for being so honest about your questions, we'll try to keep answering them as we can.

Peace be with you wherever you are.


PS Here's a family picture we had made at our 4th of July festivities!

Upper GI Results and the Gene Kit!

Good morning, friends! We've been up and at 'em since about 5:30 today! Patrick's upper GI procedure went great! They were able to see his anatomy is all correct, so that will help the surgeon plan his work in a couple weeks.

REALLY GREAT NEWS: Patrick's kit came yesterday so we can send a sample to the lab and have his genes looked at!! The phlebotomist will be here this afternoon to draw his blood, and send the sample off! I am so excited the results of this test will help our family in diagnostic ways as well as understanding more about what is happening to our little boys.

It's a short post today, because I just wanted to pop in and update you, but trust me when I say we are not short on hope today.

Video Swallow Results

Today was Patrick's video swallow. That's a funny name, that sounds like what it is. They add barium to what ever I typically feed him, and they watch it digest. They watched him drink water, breast milk, and eat thin lentils and chunky squash.

The excellent news is that he is not aspirating it!! That means if the food nears his vocal tubes, he can move it to his esophagus.

The less glamorous truthful news is that he is having a little difficulty swallowing, and his esophagus wants to push the food back up instead of force it down into the stomach. The speech therapist who oversaw the whole thing said she expects we will need to do another video swallow as things progress, but that is very much what I expected to hear.

Right now, it is still safe to feed him and breast feed him. I can't help but remember the day I was told to stop breastfeeding Daniel, and feel grateful that we are not there with Patrick. Thank you, Jesus, that today was not that day.

On Wednesday, Patrick will have an upper GI. This is just a procedure the surgeon asked for to clarify what he will be seeing in a couple weeks when he goes to surgery. I'll let you know how all that goes, though I am not sure I will have results from it immediately the way I did with the video swallow.

Thank you for keeping us in your prayers. I thank God for each and everyone of you who is supporting us in all the various ways. We are incredibly blessed by you all and really know what it means to have a tribe.

PT, G-Buttons and Tests Oh My

I'm so glad you found us here on the blog. I think it will be a good place to update, without having to flood yours (and my) inbox. Plus we can add pictures here, and you can find the fundrazr link. And, I think you'll be able to share this much easier than sharing and forwarding emails. I hope. (PS Thank you to all of you for supporting us this way. I am eternally grateful.

Today I feel like we are moving again. I took Patrick to his (actual) first Physical Therapy appointment. I cannot remember if I told you that last time we tried to make his PT appointment he was not on their books. There was a little scheduling issue but it is all worked out now, and Patrick did good work for the evaluation therapist. She liked that he can still roll from back to tummy, that in tummy time position he can move his head to either side to clear his airway if needed, and she liked that we know how to hold him around the rib cage to support his trunk so that he can do the work of holding his head up. She noted how easily he fatigues, and recommended that he do some pool therapy next time we come in, to see if that will ease the work burden and still get his cardiovascular system moving.

We are now on the schedule for Patrick's g-button surgery. We met with the surgeon last week, and Brian and I both liked him. He was extremely knowledgeable and also very kind. He gave us a list of all our options and their possible outcomes. We still feel that the g-button is our best shot for Pat right now. So that is scheduled for July 26th. I know!! I feel like that is forever from now, but the surgeon already had a family vacation planned and then when he saw my calendar we all decided together that the last week of July is best. We all agree that Patrick's health can sustain a couple weeks more.

That insanely expensive test is looking like just a little hurdle we prayed over! Our nurse has found a lab that can do the tests for a fraction of the $13000 we were initially told. I have completed the paperwork for them and am awaiting a call to schedule it. I'll keep you in the loop as I learn more. I covet your prayers regarding a swift diagnosis. As I understand it, a diagnosis is the piece of the puzzle we need to get any real shot at getting into a clinical trial and seeing if Patrick can really be helped.

Brian's family is all in town this week for a little family reunion time. We are having a great time catching up, and Jocelyn feels really secure with everyone crowding in around  her. She is aware that Patrick has a surgery planned, and she is really scared for him.. We've been taking all the time we can to stop and help her understand, but it is a lot for a little lady to take in. Would you keep her little spirit in your prayers? She's trying so hard to understand, as we all are, but her limited life experiences create a huge gap.

The Journey's Beginning

The journey was first conveyed by emails, here are the first several emails to get you caught up.


Email 1:

We write today in order to shed light onto what is going on in our family. It is scary news, but it is also a message filled with hope, the hope for which we are told to be prepared to give reason in 1 Peter 3:15. Our hope is in Him and His will.

We have been concerned for several months about Patrick's development; however, we were uncertain if this concern was rooted in Patrick's actual development or in the scary disease we saw in which our beloved Daniel. On Monday the 2nd our Pediatrician told us that our concerns were warranted, where before he had told us we were not to that point of concern for these things. He was very pointed that there are many variables and this does not have to be like Daniel.

We met during this past week with a neurologist, and she feels we are dealing with the same disease in Patrick that Daniel had. Preliminary testing and first evaluations have pointed her in this direction. Preliminary tests will not be enough for a conclusive diagnosis, though. We started the process on Tuesday the 10th for a full diagnosis. Science has come a long way in the 2 years since we Daniel passed away. The first way is diagnosis; they have both improved the ability to diagnose the disease, and it is a less invasive method as well. It is very dangerous for a Mitochondrial patient to be put under anesthesia and therefore a suspected Mito patient should probably not be put under. Thankfully now they have a method of diagnosis that won't require that.

Further, there have been significant developments in way of possible treatments. Doctors are working to find a method for us to have a compound developed that is basically a supplemental cocktail which  includes 3 of the most common enzymes that Mito effects. This cocktail has proven to improve some Mito patients and not others. If it helps then great, but it is not all the options we have, nor would this be a long term solution. There are also trials available for Mito patients that are confirmed. This is where we currently need prayers. We are working for that full diagnosis, but since we have insurance we have to wait for a several weeks process to determine if insurance will cover the tests required to diagnose. The medical field is hoping to expedite this process based on our previous family history, but we will see if that tactic is successful.

We believe that having some treatment options and better diagnosis methods are both very promising signs. We remain forever grateful for the encouragement we received during our time of needs previously, and we know we will receive the same great love and support from friends and family during our next great trial. We love you all dearly and thank you all for everything.

As with previous updates of this nature, please feel free to update any that you choose as we do not have all the emails we should have.

Email 2:

Hey All you prayer warriors,

Here's what you need to know about Patrick:

Nothing happened last week. We were supposed to have PT and OT appointments but the company we were planning to use wanted to bill Insurance in a way that really hurt our pocket book. So we cancelled with them and found a company that can bill the way we need them to. It's a wait to get in, but right now, that is our option.

Tomorrow, Patrick sees a cardiologist for a baseline appointment. They are going to do an ECHO but Patrick will not be sedated because of the suspected Mito diagnosis. Would you pray that he will be still for the pictures? I'm going to take all the measures to make sure he naps, but if they don't get the pictures they need they will schedule a sedated echo. Pat is not a safe candidate for sedation, so we don't want that.

Keep praying that the pre-approval for genetic testing will move quickly so that we can get the actual diagnosis we need to start getting the care we know he needs. And pray with me that "mito cocktail" will be available for Patrick soon. Brian and I are so anxious to see if it will help him. And lastly, Patrick has a hard time keeping solids down. We are working on getting  a swallow study done to see why he's having this trouble,, but in the mean time, I'm begging Jesus to help me get Pat the calories he needs.

This mama is weak, but Jesus is so strong. This burden is heavy, but Jesus' was too. So, I keep remembering that all I really want is God's will to be done.

Thank you for loving us and standing in the gap with us. I'll check in again when there is an update.

Email 3:

Hi Everyone,

This process seems so slow going, but we are making little strides as we go. We have found and made good contact with a pharmacy in Massachusetts that is going to make Patrick's "mito cocktail."

I am not entirely sure what we need to pray for; here's the facts. It will ship on Monday, and be here either Wednesday or Thursday. We need about a month or so to know if it is going to work. Sometimes it gives improvement for a patient and sometimes it does not. Because the "cocktail" is a compound of  vitamins and supplements, it is not covered by our insurance. All told, for a month's worth of supplies, it will be about $400. We have been gifted this money for the first month, because we just need to see if anything can help. Going forward, if it is a success, we will have to figure out how to work around insurance in order to afford it. There may be an option for us to opt into medicaid because of Patrick's major medical situation, but only time will tell. There's a prayer in this somewhere, I just don't know how to formulate the words.

Patrick has been holding some food down! I havent seen him vomit in a little over a week, and I am so so grateful! He is only eating very fine purees, but I can finely puree every fruit and vegetable in the county if it keeps him fed. 

His "speech evaluation" which will amount to a feeding study is coming up on June 17. So at that point we'll see what the professionals think about the way we feed him and if anything can be done better. I'm hoping they will make suggestions about positions for him to be in while feeding, and perhaps a chair that will support him best while doing that activity.

He is a happy baby, and loves his Daddy and Sister best! He is currently enjoying a visit from my Mom who has a pair of dogs. I think he likes having them down on his level.

That's all for now, we love you and thank you for all your words of encouragement and support.

Email 4:

Hey everyone,

I hope your weekend treated you kindly and you got some rest and rejuvenation.

This past week was an emotional roller coaster. Before the mito cocktail showed up, a blessed friend told us of someone who wanted to cover the second month of the cocktail for Patrick! On Monday, our specialist's nurse emailed to say that insurance has preapproved one of the tests that the neurologist wants to run, but denied the other. She said they would be sending more information to the insurance company to convince them of the importance of the test. Brian has spoken to his HR department and they are running interference on their end to make our insurance company aware of how important this testing is.

On Thursday, when the cocktail arrived, I administered it to Patrick. It's in several forms. There's a shelf stable liquid, a powder to mix with juice and a refrigerated liquid! It is a lot of volume for a little guy. We had already been using the shelf stable liquid for several days since it could be gotten from the regular pharmacy. I already knew, and relayed a message to the Dr that this supplement was giving him constipation. About an hour after administering the other pieces of the cocktail, Patrick had a red flushing on his extremities. I called the Dr and she asked us to not administer it again, until we had time to visit with her. This feels like a major setback. With a little clarity of mind, that time has offered, I think I will call the pharmacy tomorrow and ask if they have any recommendations or suggestions about what might be causing the rash.

The end of the week brought more questions about whether our Physical therapy and occupational therapy company can bill insurance the proper way. The long and short of it is this: if they bill it as an outpatient procedure then we have to pay in until we reach our deductible, if they bill it as an office visit we pay our copay. By the end of the day we felt certain that we will be paying it on the copay, which is what we feel is the best and most affordable option.

On Friday we received notification from our insurance company which seems to deny all the testing. So that further adds to all our confusion.

Meanwhile, Patrick seems happy. Perhaps, sleeping a bit more, but that could be anything. Today at church I chose to wear a cheap little necklace strung with beads, and during mass, Patrick broke it. Jocelyn, incredulous, asked me "Mommy why does baby like to break everything?" I told Jocelyn I am not upset, because Patrick is strong enough to break a necklace. Now don't be deceived it was not well made, but a baby should be able to break mom's necklace, and Patrick did.

Maybe this week will bring more answers than questions.

Email 5:

Friends and Family,

There are a lot of moving pieces right now, so I will  go into pretty great detail for you.

The neuro specialist described the two tests that she wants to me. The first one is a birds eye view. If DNA were a city, this test would look and make sure the parks and libraries as well as the homes and restaurants are in the city and the lights are on. The second test would go into the buildings and look in the mailboxes and tell us who is living in the apartments and if all the electrical and plumbing is working at optimal speeds. As of this afternoon, our neuro's nurse updated me that insurance is now denying both tests. 

The first reason we'd want this testing is because it would diagnose, with certainty, the mitochondrial disease. Not just diagnose it, but diagnose it without an invasive procedure, like a muscle biopsy. The second reason we'd want this test, is that it would be very telling for our family. Not that we are planning any further children, but it would be able to explain if the inherited dysfunction is a product of both mine and Brian's gene's or if it is solely maternal. And would be definitive about whether all of our boy children would be affected or if Jocelyn was just a miracle and all of our children would be affected. These are not things Brian and I need to know, to think more children are not a great idea for our family, but they would be very helpful things to share with Jocelyn when she comes of an age to care. Genetic testing is not done on children who have no symptoms (like Jocelyn) and she may choose never to do it, but we could equip her with some knowledgeable directions with this test.

The second test I described is a $13000.00 test. You read that number correctly. Children's will discount it to about $6400. Which is still pretty unfathomable. The nurse let me know today that she may have some tricks up her sleeve for making these tests more affordable since insurance is denying them. We will know more about her tactics, hopefully, by the end of the week.

So, here's the hang up. The question has been asked, "what happens if you don't get this test?" and we think that's a valid question. So, I have a message in to the neuro to ask that question. We understand that so many people want to help us but we also want to be good stewards with that help. If the answer comes back that Pat will have to have a muscle biopsy, we would probably say fine, $6400 it is, because who needs a baby to have another surgery. That would just be undue stress on his body that is already unwilling to do what is asked of it. But if there are other methods that are less invasive and also less of a financial strain, then we'd like to hear that.

Last week we saw a speech therapist. For babies, speech therapy amounts to "how can we feed this child better". The speech therapist recommended a two week stay in the hospital to work on strengthening Pat for feedings. The hospital is bringing on a new GI doctor, but he is just in Plano, so he asked us to come in to his office. So today, we visited him. He doesn't seem to think a two week stay would be especially beneficial for Pat because under the assumption that we are, in fact, dealing with Mito, the degenerative nature of the disease is such that we are unlikely to gain back much of what we have lost. He did find Patrick to be a good candidate for a G button, which will run a tube from outside his tummy to inside his stomach and make it easier for us to put calories straight into his body. It is clear to everyone that Pat is not eating enough food. This procedure is a real inpatient surgery. It would mean at the least about 3 days in the hospital to get acclimated to the g button and get Patrick's feeds just right. I think we want and need this button for Pat. For however long the Lord is going to bless us with Pat we should give him the best quality of life. And having a caloric need met will most certainly help with that. The Dr was so hopeful and told me, "I love to believe in magic, or hope or miracles." And so, should Pat gain strength and be able to take full meals by mouth, the g tube could be removed.

At the speech appointment, we were seen also by an occupational therapist who was pleased to see Pat's grip is still strong and was happy to see him playing in a side lying position. She made some suggestions for making a car ride more comfortable and safer and also made some positioning suggestions for Pat's meal times.

Tomorrow we will see a physical therapist. I am not sure what to expect from that appointment. 

Regarding the "mito cocktail"; Right now, we can't and aren't using it because of the allergic reaction. If the pharmacy and dr can get together and make some decisions about how to isolate the offending ingredient and then we are able to actually see if it works toward improvement, I'll be glad to let everyone know. Thank you to everyone who has offered to pitch in for the months that you have. That is unbelievably generous. If and when we get that piece of the puzzle turned the right way, you'll be the first to know.

So you can see we have a ton going on. The wheels have started turning and I havent updated everyone, because I was hoping we'd get to a place where we had something good to say, but if you stayed with me and read the whole thing, maybe next time some of these issues will be resolving themselves.

I love you all dearly and thank you for checking in on us.