The worsts.

All right fine. This is not the very worst. In the writing industry we call that a tease. The truth is I don't have language to write the very worst, the worst is gutteral and unthinkable and mothers don't share that with their babies.
But right now on this day, I can tell you about when your big brother died. I remember thinking about amputees and how they describe feeling g their missing limb. Like how when the light is off in my bedroom I have such a strong urge to quietly go in so as not to disturb your sleep. I always make it (in my mind) to the point where I want to peek at you in your crib, and by then I am (physically) to the middle of the hallway and I can actually see your crib where I am painfully aware that you are not there and you won't be anywhere in the room.
It's the same story when I walk into the house and if any adult is here I am inclined to ask how you did and where you are. Or maybe I have planned a day out of the house for our family and I want to pack you a feeding backpack. With your brother, I always a fluttering thought that if I went to see his nurse, Lizzie, she'd let me take him home.
It feels crazy, certifiable. I feel like I am outside of myself. And I think besides loosing you and loosing your brother the worst is also the fear of loosing myself.

Patchies

We went to the Christmas Carol concert tonight, just like last year. I wore the same shoes I wore last year. I remembered having to take them off in the back of the concert hall last year as I rocked you during the last few numbers. I thought of that tonight while my hands were in my lap. I didn't have you to rock or cuddle or comfort.

I wish you were here to comfort my old broken heart. I wish I still had a beautiful baby boy. You were my serious child.

Everyone who studies genes and diseases has made it clear that we should not have another child. But I dont need a smarty pants to tell me that. Our hearts absolutely cannot break like this again. I cant bear it and I would never put Jocelyn through it again. Ever.

So I am letting my heart fall apart with every child I touch, and every smile any baby shares with me. I'll never see another baby who is flesh of my flesh. It's okay. It's okay. I mean, it's not, but what else should I say?

Patchies, honey, I know you cant read this. You dont even read, I guess. You, my baby son. I am missing you so painfully. There's a tightness in my throat, and it pushes against me and for some reason that makes my eyes leak.
I've been sleeping with Pooh. He's not as long as you or as heavy or as warm... not at all wonderful. But I cant stop thinking about that nurse who liked you so much and always called you "Pooh Bear." She liked you baby, but you were mine. I got to take you home, and I got to love you and feed you and tend to all your little baby needs and all your awful disease needs. And I am proud of that. I am proud that I faced all those awful things for you. I am proud that if you had to suffer the pain of it, that I never shied from the ugliness of it.
I have learned something about death, something very tangible and I wish I had known it for fact so I could tell you when you were here. Baby all that color changing that was going on in your legs and face and belly, that wasnt an infection. That's death. I wish I could have known for sure, so I could have told you, prepared you, let you know what was happening. I'm sorry honey. I hope you werent too scared. I hope me and daddy were close enough by to comfort you and help you through it.
I am so so sorry you never got your voice, son. I desperately wanted to hear you say your sister's name. I wanted that from the moment you were born. But with it all said and done, I wish your voice could have told us your wants and your needs so that we didnt have to make every decision without you. I'm sorry baby.
Daddy and I have learned about your disease, that bastard that lurks in our bodies. And it is excruciating, son, to know that we couldnt stop it, and also that we didnt know it was coming for you. There werent enough answers for us when your brother died. We didnt know it could happen again. I hope you can know and trust that we did everything in our power to make this turn out different.
I think you are happy and healed and wonderful and if given the choice you probably would have no reason to choose this broken world, so maybe you dont want it different, sweetheart. But, I do. Kindof. I want you happy and healthy and wonderful, but I hate holding Pooh at night. He is not warm and heavy and wonderful. He does not lean his warm magical smelling head into me and just rest. that was all you, baby.

Oct 19

My dear friends,

Patrick's journey on Earth is done. He left us this morning about 7 o'clock to be with our Lord Jesus.

His funeral service will be Friday at 1 pm at St John the Apostle Catholic Church in North Richland Hills.

September October

Hey friends. I am so sorry I've dropped off working on this blog. I have never forgotten it. But I'm sure we can all understand about break-neck speeds.

Patrick is not doing great this week. He's got some kind of viral infection that is giving him fits. He's been on the oxygen pretty much twenty four/ seven. Before the infection we were seeing a definite decline in his health with new seizures presenting and loss of interest in people and things around him. He has still got movement in his forearms and some use of his lower legs.

We are pretty worried about him and thank you a million times for all your prayers. Please accept our apologies for not updating.

Here's some good things we can tell about: We took the kids to the state fair, and Jocelyn thought we were amazing parents! :) Patrick recieved his first Communion and Confirmation! Jocelyn and Patrick got to go to a trampoline park. Jocelyn jumped for two solid hours, and Patrick smiled a lot (I think it was the thumping club music they were playing!) Jocelyn and I got to get away for some precious girl time, and that gave Dad and Patrick some special time together, too. We've seen all the grandparents and Patrick's Godparents in the span of two weeks!

I'll try to update this at least  weekly, so we wont feel like we are all out of the loop.

My love,
Lessie

Saturday night thoughts.

Patrick is doing well. He is adjusting to his new schedule of feedings and he seems to really have a spark back in his eyes that I'd almost forgotten. It's a very becoming look on him!

Also he started a speech therapy program called vitalstim which is a stimulation of his throat muscles. It should help him retain some swallow skill despite the fact he doesn't swallow food regularly. This is particularly helpful with regular secretions but an ultimate goal is to get him strong enough to go back to safe tasting. The therapist was very pleased with what he tolerates on his first treatment.

Jocelyn is hanging in like a trooper. She really admitted to me this week that she understands this is Mito but she just doesn't want it to be. I'm proud of her for facing that fact. Recently I have noticed people making a remark about her and while it may be true I wonder what she hears when it is spoken to her. It goes a bit like this J:I have to look at my schedule. Other Person: that's a very big word for such a little girl.

Now that's true. Jocelyn has a dynamic vocabulary full of words she learned from her dad and I, who take some pride in that, and from the medical community we have been unfortunately immersed in since before she can remember. Little lady, don't let anyone tell you that you are too small for a word. How we use words is an important part of our society, and if a six year old can tell you about her schedule or name her brother's rare disease that you've never heard of, well that's not a problem to anyone in our house.

We are doing our best to live out hope in front of Jocelyn, but we are not lying to her, nor could we. It is clear that Patrick is not doing what her friends' babies are and she needs an explanation for that. I guess we all do. So we aren't lying or sugar coating it and she might tell you about it. And if she does please dont brush her off because it sounds ridiculous for a little girl to talk like that. If you really listen I think you'll be impressed with her resilience.

What's new

Between all the birthday partying, we've had several appointments and there's some things to share.

It's so hard to know what to share first, so I'm just going to take a stab at it. Patrick is no longer taking food by mouth. Two weekends ago we had to Heimlich Patrick 3 times out of the 6 meals he ate. We felt like that was excessive and also extremely scary. So we talked to the GI doctor and also our regular pediatrician and we all agreed. So we are feeding him through the tube entirely now. It's hard and scary, but so is needing to save his life every other meal.

We got the results from Patrick's EEG back and it showed an overall slowing of the brain, which is an indicator for seizures. The episodes that Patrick had during the study (and has regularly at home) are not seizures but called a "myoclonic jerk." These vary in severity and only the big ones seem to bother him. I've studied a bit about these, and they are akin to a hiccup, except all over his body instead of just in the diaphram. He remains on the seizure medicine as a precaution for the seizures and also because that's the therapy for the jerks. We still see many of these jerks a day, but the only other option would be to increase the dose of the medicine which will heavily sedate him. That is not a goal for us.

Another thing the neurologist told us is that the genetic testing has come back. The test shows an autosomal genetic defect (2 recessive genes that are defective). There is a likely mutation on a gene that is the reason Patrick is presenting with these symptoms. The knowledge of this gene mutation actually changes nothing for what we know about Patrick and what predictions have been made about his future. It does however have some implications.

First a little lesson on genetics. Recessive genes only show if there is no dominant gene to “overtake” it. Therefore, it is possible for a recessive gene to be passed on for generations without it ever presenting. This becomes increasingly true with truly rare recessive genes. We know that Patrick was passed 2 recessive genes, one is known pathogenic and the 2^nd is possibly pathogenic and these are paired. Pathogenic simply means that it is disease causing. At this point, the geneticist assumes that Brian and I are both recessive carriers of this gene, and both are being considered pathogenic. With this assumption every child we have has a 25% chance of receiving the recessive gene from both parents and showing symptoms, a 50 % chance of carrying one of the recessive genes from one parent showing no symptoms, or 25% chance of receiving the recessive gene from neither of us (this child gets a dominant gene from both parents). If insurance will cover the cost of the testing we have decided to do this. Mainly to contribute to the research community for Mito.

Since one of the passed genes is pathogenic, and the other is a mutation of unknown effect, the neuro team would like Brian and I to both be tested. If we test the same strand and find both genes that were passed we could help them upgrade the understanding of the gene of unknown effect to likely pathogenic. This data would help the Mitochondrial world tremendously. Results should be much shorter turnaround time and the neuro team seemed sure that we would have a much better response this time from insurance. Brian and I have decided, assuming we can get insurance or other methods to pay for the costs, we will have the test done. Jocelyn , having no symptoms, will not be tested until she chooses to do so as as an adult, but if Brian and I were to not get this finalized we don’t know if one of the genes she may have is pathogenic or not.

So that's a lot to process and we have taken some time do just that before we put the information here, so please know that we are okay. Maybe we are struggling a bit, but we were doing that before this information came to light.

Our love, 

The Wethingtons

Patrick's Birthday extravaganza!

If you haven't seen pictures on facebook by now, you've waited long enough. (And also, I'm sorry for the wait.)
With school starting for Jocelyn and Patrick's relentless schedule and all the celebratory outings, it's been hard to get this blog updated.
On his birthday, we had some chicken and dumplings, made by Mama Kate and ice cream cake. He really enjoyed the dumplings (Patrick is a savory kind of guy) and appeased us by eating a couple tiny bites of the icecream. He got to open a present that sis presented. (a spiderman action figure, which he really likes!)

On the following Saturday, Brian's parents were here and we had another little celebration with the ice cream cake, and we all went out and had our family photos made. Our parents gifted us the costumes as Patrick's birthday present, and our photographer (Adrian McCandless Photography) gifted Patrick the photography session. It was a really special experience.

Then on Sunday we had some special visitors who brought cupcakes and a little party ensued with the kids! Patrick enjoyed a bit of the icing from a cupcake. It was such a full weekend!
We started Jocelyn to first grade last Monday and it's been a whirlwind. I can say with some certainty that Patrick is missing Jocelyn during the daytime hours.
Our final birthday celebration was this weekend. Pat's Aunt Carla and Uncle D sent us out to Balloon Palooza in Grand Prairie to watch the hot air balloons. Jocelyn and Patrick were transfixed and it was a super evening!

The birthday party is done now, but the memories will last forever!
Thanks to everyone who sent cards and sweet little notions. He received everything with gratitude.

Wednesday

It's Wednesday, hump day, about half way through my marathon week. There's not a ton to update you on, but I feel like there is so much to say. So, I'm going to dump it here.
Monday brought our last visit with our home health nurse. It was a sad goodbye but it makes sense. Our home health was only able to answer questions related to the feeding tube and any other thing was out of bounds. Hospice will bring us a nurse who can answer any questions, offer advice, and a dr on call. Though it was sad to let a new friend go so quickly, I already feel like we are being wrapped in the arms of our family with hospice.
Monday afternoon a specialist came to see Jocelyn. She is called a Child Life specialist and her function as I understand it is to help us assess Jocelyn's mental health and offer suggestions as well as memory build for her and Patrick. (I have this tiny twinge of anxiety as I tell you that she could tell I'm a "Pinterest Mom" at her first glance around my home. I'll bet you all sort of think that about me, but I never gave myself such a title. I don't look at my home and think "that's crafty perfect!" But she did. I don't look at my home or my life and think anything is perfect, except the people and the God who dwell with me. Memory building has been in my bones since about the second meeting we had with hospice for Daniel. So I guess if my home looks like I'm building a Wethington Time Capsule, then so be it.)
So I digress, the specialist, whose name is Kelly, and I interviewed one another, feeling each out for expectations and after a satisfactory interview, she played with Jocelyn for about 2 minutes, before she asked me"When did you say you were at the warm place?" When I told her, she said, "that was the only time frame when I interned there that I worked with the little kids. I know this sweet thing's face!" In short, she remembers J's face from the Warm Place and though I'm sure Jocelyn doesn't remember Kelly, it feels a little more like home that we've got someone who "gets us".
Kelly brought a social worker who wants to offer all sorts of services, but it is hard to anticipate what we'll need. One awesome thing she said is that as long as Patrick is safe to go places, (read, the lake, grandparents, vacations) we can work with a pediatric hospice in that local area so we are never more than a call away from care. Hooray!! What a sweet feeling to not be chained at home.
Tuesday was a strange appointment. I completely expected to go there, be told his  wound looks fine, and then leave. But, we got there and the nurse got to work taking his dressing off and showing me how to take the extension (the little tube that delivers food) on and off the button. She felt the fit of the button was tight so she took a little slack off of it, and said she wanted to talk to the surgeon about how much more would be safe. I left completely expecting to pick up Jocelyn from my dear friends' house, but she wasnt ready to come home. So Patrick and I napped and lunched and generally took it easy. Still, when Jocelyn wasn't home by 3 and now I knew to expect her closer to 6 I took us out for a Sonic drink and a little bit of shopping for Jocelyn's school clothes. Plus, Jocelyn has been begging for some time now to have a sit down meal. It's crazy because I really champion that, but for about 2 weeks now, we have just been eating when we are hungry whether or not anyone else is. So I prepared a meal and everyone who was home sat down and ate together, and talked about regular family stuff. And it. felt. normal. The nurse called me back and asked me to come in and let her take a bit more slack off the button.
This morning, Brian worked from home so Jocelyn got to sleep in and Pat and I went to our appointments. The nurse who was planning to help the button be more comfortable decided she really didn't need to do so, which almost made the appointment useless, but there were these two things, we bumped into the surgeon, who looked at Pat and asked me some questions, and then promptly told me to cancel my appointment with him next week. "We just did everything we would have done." he says to me. So boom, an appointment ticked off my calendar with absolutely no effort. Thank you useless nurse appointment. The other thing was this, there was a mother in the waiting room reading with her son. Just like I'd be doing with Jocelyn except, (LOL) they were reading about septic tanks, which from my country upbringing I have limited knowledge of;  I cannot say why I asked a question about the book, but it struck up the loveliest conversation, and whether or not we stay friends forever, or it was just a chance meeting, I needed it. She asked about Patrick and listened intently. She told me her daughter has CP and has a brain injury that rendered her brain incompatible with her body. She asked me how long life is expected for Mito kids, and I told her what I know, and she shared with me that the Doctors told her she'd get something like 7-9 years, but they have celebrated that baby's 10th year. (Ashley if you are reading this, I hope I'm telling your story correctly.) She said every year we get is a "bonus year." And you know what, I think every day we get with Pat is a "bonus day" Not because I expect to loose him at any moment like I did with Danny at the end, but because, I think that is how God wants us to think of life. A bonus day, do something awesome. So, thank you useless nurse appointment. Thank you for a freed up calendar day, and an inspiring visit with a friend who is also in the thick of a messy journey.
Then we scooted over to our EEG appointment in the main hospital. Here's what happened, Patrick had about 4 episodes over the course of an hour. I hope it was enough to let Dr Kayani study. Here's what I learned, when the technician began to wash the residue of the test off of Patrick he began to have episode after episode after episode. (PS, Patrick HATES his hair to be washed. He's been that way since birth.) So now I can say with some certainty that the episodes are mostly triggered by stimulation. So if 4 episodes are not enough to study, we will know how to elicit them if another study is required. But let's keep prayers coming that 4 is enough.
We are home now, vegging in front of the tv with Jocelyn and this Mom is so glad that the next appointments this week are easy.
As an aside, I figured that Friday appointment out >>> Speech therapy is coming to our house to watch us have breakfast.

This week at a glance

When I look at my calendar for this week, I think it looks like a crazy person planned it. There's so much going on and I know you'll want to know about a lot of it.
So here's what I am doing... if I should forget to update you, just let me know and I'll tell you about outcomes.
Today the main event is a specialist who is coming out to help make a plan for Jocelyn's mental and emotional health. We are not going to do much today, just talk about the plan and introduce Jocelyn to the new friend.
Tomorow, Tuesday, I'll take Patrick in so that his wound care drs can have a look at how he is healing. I'm not an expert but I can tell you the wounds look great and seem to be healing well. This is not an appointment I have any concern about, but it is a trip into Dallas.
Wednesday, Patrick's EEG is scheduled. They want to see what his "seizure" or "tick" looks like in the brain activity and they want a baseline. Should we need another in the future, we'll have this to compare it.
Thursday we have our regular physical therapy appointment. This one tires him out, but he seems to like his therapist, Trish, so not a big appointment here.
Friday is funny because I have 10 am marked on that date, but I didnt tell myself what was happening at 10. Silly me, but I bet I have it figured out by Wednesday or Thursday.
That's the plan, We are going to be quite busy, so if I am not responding the way you hoped this week, you'll know it's because I am either, sleeping, driving, meeting or eating. :P

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The Day of Brutal Honesty

Everyone please realize that we needed a day to digest our day before we were able to post the following.

Our appointment yesterday with Neurology was an extremely tough day for both of us, and it was a day that both of us had to know in the back of our mind we might be having one day soon. Dr. Kayani shared with us that when she first met us she had greater hope because of the strength Patrick was still presenting. However, with yesterday's visit she feels that while we are on a different timeline we are still on the same path that Daniel took, unless some medical miracle presents itself. The doctors will never be able to establish a test for God's might, his mercy, nor his love. Further, the hope God gives us is far greater than the hope of this world. We will continue to pray for the life of our dear son, but most of all we pray for comfort and strength in faith for all involved; this is not limited to our immediately family, but also those that surround us in prayer and faith.

It is important to realize that neither the neurologist nor we have given up on finding something to help Patrick. She is still doing her own research in hopes of finding something, anything that might help. We have hit a few roadblocks along the way. There is a drug that is not on the market that the neurologist hoped we would be able to try. It was believed to be in between the trial phases when we first met with her. When a drug is between trial phases they allow patients with the supposed disease it is designed for to use it compassionately. We were unable to get a diagnosis quickly enough for this as the drug will very soon be taken into the third trial and compassionate use has been stopped. It is important to realize that this drug might not have had any impact on the particular type of Mitochondrial Disease Patrick has, but trying something is better than nothing. We want you to know that we are not actively seeking a second opinion, because the next person we would go to is the specialist who treated Daniel. Her name is Dr. Iannaconne, and as she is in the same clinic with Dr. Kayani she has already been consulted.

I have my own research in some other types of treatment that I have been looking into more deeply, but so far most of those options are for a less severe type of Mitochondrial Disease. 

We have not and will not give up on looking for options at this point, but we have come to realize that we also need to prepare to some degree for the path we appear to be on. This means that we had to have a very difficult conversation with Palliative Care yesterday as well. We met with the same man who met with us when we had to make some decisions with Daniel. He asked us if we were ready to move forward with Home Hospice care. I kind of tried to prod him for information of what our other options might be, or if he might have some suggestions for a guidebook on this sort of scenario. Lessie and I both realize we need someone to help Jocelyn process what is going on, and Home Hospice has the perfect service to help with that. We know there are social services that will be necessary to help us get the equipment we need, and again Home Hospice has a great service for that. We know we will need a doctor who is available as necessary and Home hospice also has this need covered. Not only all of this, but all of these roles, except the social services, are being filled by people we know and trust from our previous experiences. The nursing is something we will eventually need as well, and while it seems we are starting Hospice very early, we thought it prudent to make that call. Hospice for children is not the end, as I am sure many of you remember us saying with Daniel. 

Neurology visit tomorrow

We are doing great with the feeding tube and Patrick is already gaining weight! He is more vigorous as he eats at the table as well. On Sunday he seemed very engaging with our church family, so that was fun to see. Even a warmer feeling comes across you as he decides to wave at you when you enter a room.

However, we are dealing with a new set of issues this week. We are seeing this disease progress in Patrick, and it is hard to talk about, but I think it is important to keep you apprised of the situation. On Monday morning I was laying with Patrick in bed. We do this position where I'm lying with my head and back down but my knees are up supporting Pat's back while he sits on my stomach. I noticed that he kept seeming to loose his balance so I sat up and watched him. He seemed to be twitching. So I layed him in the crib and took a video of it to send to neurology. They confirmed my suspicion and fear that Patrick is having little tiny seizures. The good thing is they don't seem to bother him too much. The bad thing is that the disease has begun affecting his brain.

Today after noting the spells again, repeatedly, I called neurology again and they put him on a mild dose of a drug called Kepra. It is to manage the seizures until the time when we can get him in for an EEG. The doctor also asked to move our appointment to earlier in the day so that we can have a little more time to visit.

Also, on Monday our regular pediatrician stopped by to see how we are doing and ask some questions about how he can help support us with his recommendations for therapy. He asked us to think about how Patrick has been developing since the beginning of summer. Together, Brian and I realized that Patrick has lost a lot of head control and is loosing strength in his core (he is no longer rolling from side to side to reach toys.) This is not something we did not know, per se, but as the progression or rather, regression is such a slow process it is important to take inventory occasionally. It's important to realize that to some degree this disease is hitting an acceleration button. But it is very, very hard to take in.

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.