Back to our results

I'm sitting here with time on my hands so what betteer should I do than blog. It seems I always have so much I could write about but just don't always have the time. I don't really think that anything I write about is profound but I do hope that in some way some of things I write about can be inspiring to my friends or a help to somebody else that may be going thru some of the same things as we are with Lydon. So, last week we met with Dr. Koenig who is the mitochondrial disease doctor. As I said before, we were very anxious about this appointment because when we met with genetics, they had told us that included in Lydons chromosome deletion was a nuclear encoded gene for mitochondrial disease. Dr K explained that based on Lydons results, she does NOT think that Lydon has mito. Ill admit, I was confused and thrown off by hearing this. I even felt a little let down. Not because I wanted Lydon to have mito in any way but I do want Lydons medical issues recognized and treated rather than dismissed. Especially when the so much of the decision as to how or when to treat some of Lydons issues has seemed to hinge on a mito diagnosis. I explained this to Dr K and she explained to us that she felt sure that Lydons body was compensating for the missing mito gene but was struggling with the chromosome deletion. She said that his deletion does explain everything from his growth and language delay to his small kidneys, energy deficit, and GI issues. So, that made more sense to us and we were relieved to have the mito monkey off our backs. For now, we will take things as they come without the worry of a progressive degenerative disease! Dr. K asked my permission to send an email to Lys physicians explaining what we talked about and that Lydons issues needed to be addressed and treated accordingly since we can't very well make that part of his chromosome reappear. That gave me some peace of mind and reassrance. Although, I am thankful that we seemingly no longer have the worry of everything that goes along with mitochondrial disease we still have some of the same issues and now, some that are very different. There isnt a "Chromosome 16 Parents support group". There isn't a doctor that specializes in Chromosome 16. We dont have to worry about this deletion progressing but we dont know what this deletion will mean for Lydon long term. Despite all of this, I do feel quite confident in all of Lys doctors and I am very optomistic that we will be able to move forward now in doing what is best for him. He is such a sweet innocent little angel boy and shouldn't have to endure anymore pain or stress on his little body than necessary. I chose nursing as my career because I love medicine. The science of most of it just clicks and makes sense to me. I chose pediatrics because I love children and babies. I feel like they are straight from Heaven and still posess a pure and innocent spirit without the corruptness that most of us carry by the time we hit puberty. Now, more than ever my goal is to take care of Lydon and his specific issues based on just that. I want for him to enjoy his childhood with as little pain, fear etc as possible. He has already taught me so much about life. How can I complain about something that is really big to me (like my thighs or my rear end or sleeping in a window seat in the hospital night after night) but yet be SO insignificant when he struggles just to communicate with us and is seemingly punished by his GI system for eating an extra cookie or drinking a little more apple juice than he usually does? He deserves so much more and I am so blessed to be his Mommy. My prayer is that I can somehow continue to help Lydon live life to the fullest through all of these complications without hindering him or holding him back in any way and maybe just possibly learn something that will help and encourage others and bring joy and a purpose to this unknown path that we are enduring.

I shouldve known

So, the plan was to go to surgery today to replace Lydons tube. Well, guess What? That did not happen. When we talked to Gi,surgery,and the Anesthesia team today everybody was pretty concerned about Lydons high fever that we came in with. They all felt that the fever coupled with his airway issues were too big of an anesthesia risk. I was hoping that we may get lucky enough to convince them to do it tomorrow and let us go home because Lydon didn't have fever all day. But, wouldn't you know it,about 7 o clock tonight Ly spiked back up close to 102 and even an hour ago it was still sitting at 101 after Tylenol and cool rags laying on him. So plan B it was. We took out his GJ at the bedside this afternoon and replaced it with a plain g button. We are running continuous feeds since Lydon didn't want to eat at all today and we will do so slowly all weekend. Monday, we will go to the OR do an endoscopy to peek at everything an place a new GJ. Hopefully we will not have any anesthesia or airway issues and will be able to come home by Tues. So, we will spend yet another weekend in the hospital but that is the safest thing for Lydon so I won't complain. We were really blessed the last two days. My mom was off with Aidan and so Jono took off to be with us. It was really nice to have him here and not be alone this time. And thank goodness we've had some awesome nurses which is pretty much the norm here but you never know for sure how things will go. God is so good!!

In the hospital...

I know a lot of people are curious as to what happened and why we are here. This was obviously not a planned visit. Wednesday evening Lydon spiked high fever(103.4). I was concerned but I've learned not to panic or worry as quickly or as much as I use to. This is where the phrase "new normal" is inserted. So, I gave him motrin along with his other med and put him to bed. He slept fine until about five when he woke us up hysterically screaming and back to 103.4! So, I went thru the whole routine again but could only get it dowm to 102. He had no other symtpoms so I called our pedi and we were told to bring him in. Despite all our effort, he was at 104 and climbing when we arrived. They immediately put us into a room but it took hours before we were seen. He was beside himself mmiserable. They finally got labs xray etc done about two o clock. About four they came into the room and said that everything "looked fine" and we should take him home and come back if anything changed. That didn't sit too well with me. So they went out to call our pedi and take a second look at things and wouldn't you know it suddenly his xray looked very different! His J tube (the tube that is in his intestine) had completely twisted and coiled into his stomach. So that really started spinning things into a different direction. They started makin calls to the surgery team and trying to get a bed for us. We finally got into a room about 8 last night. We still aren't sure what to think about the fever and whether or not it is related but we are concerned about the potential for the tube to perforate his stomach since it was held in place with a wire. The plan is to go to surgery later today and hopefully have no respiratory issues and go home tonight or tomorrow. We had a really good appointment with Dr K regarding all of Lys results. I will post more about that later but for now he is sick and we will deal with this first. Keep us in your prayers.

The missing piece of the puzzle

We have found our missing link! Literally. On Thursday, we met with the Genetics team at UT. As some of you may remember, we did some genetic testing per Dr.K's request back in December. When Lydons results came back we then had our blood tested. So, in the last week or so all of the results have come in. The "team" of doctors and nurses came in armed with toys and a box of Kleenex. I was so impressed! Two and half hours later, I realized both of those items benefited them as well as us. Once again, thank goodness for my wonderful Mother. She was able to get off and go with me in Jonathans place. I couldnt have made it through this appointment without her. The appointment was obviously very involved and included a lot of detail to say the least. I wont relay everthing here that they relayed to us since blogspot doesnt allow for the Magna Carta but I will try and relay this all to you as simply as I can. The simple answer is that Lydons chromosome panel showed a missing portion of Chromosome 16. Neither Jonathan nor I share that same loss. So, this is a mutation/deletion that is specific to Lydon and is the underlying cause of all of his problems. This deletion is universally associated with growth delay, developemental delay, speech/language delay and seizure disorders. At this point in the visit, Im a little confused. Lydons growth, developmental and speech delays although they have been a great concern, they have certainly not been our biggest concerns. What about his on going significant GI issues or his extreme fatigue and energy deficit? The list could go on and on. Then, they explained to me that the chromosome is the place where the genes "live". The genes are what tell us certain detail specific information. So, the missing piece of Lydons 16th Chromosome is the "house" for 7 different genes. They dont know what all seven of the genes are responsible for however, one of the genes specifically is a nuclear encoded gene for mitochondrial disease. And that would explain all of his other medical issues and what we have been thinking for months now. That there is indeed a mitochondrial dysfunction. Now, for the curve ball because in case you forgot this is Lydon we are talking about. They have only been able to identify disorders/diseases with this area of Chromosome 16 for the last five years. So, the technology isnt available at this time to identify the specifics of this gene and exactly what mitochondrial disease or dysfunction it causes. So, we know now what is behind Lydons problems and where it all stems from (This was a genetic "glich" that just happened. It was not passed on from either of us and he didnt develop this after he was born.) but we still do not know exactly what this is or what this means for Lydons future. We know that for a while at least, he will continue to have a delay in growth, developement and speech but we do not know to what extent that will be. We are very anxious to meet with the mitochondrial disease doctor again next week and she what she has to say in regards to this gene discovery and the role it would play in Lydons medical/mitochondrial issues. So, all in all, it was a lot to take in but we are indeed narrowing things down and getting some answers and now we do at least have a primary diagnosis. Lydon has a Chromosome 16p deletion. Im sure we will have some more information to add to this after we see the mito doctor. The genetics team are looking in to research studies across the country which may already be in progress to examine to possibilities of getting all of the specifics of this gene broken down and identified. If they do not find one, they will work to get a research study started here at UT and Lydon will be the subject. The head genetics doc told Lydon very sweetly while she examined him, "You are a little mystery man and you're gonna help us write the book on this one." I felt like that was a bit of a confirmation to what I've been saying for months...Lydon is special and God has had a plan and specific purpose for him all along.

EEG and Sleep Study

I dont have any results yet but I thought Id post a couple of pics from Lydons EEG and sleep study. It was miserable for him. The sleep tech was very knowledgable and compassionate but that didnt change Lydon's mind about how irritated he was.

He hated all of the leads (more than 25). Like I said, I dont have any results but the machine kept going off while he slept( just blinking not buzzing) indicating his CO2 level was too high. Today, we saw the Immunologist, Dr. P. Love her btw, so tender and gentle. Lydon could sense her sweet spirit I guess because he let her hold him the whole time until she started to walk out of the room with him. ;) So, I mentioned the CO2 to her. It was her opinion that his CO2 level was a little on the high side so Im assuming that he is indeed having oxygen desaturations while he sleeps. Guess we will see what Dr. J (the pulmonologist and sleep specialist) has to say about it all on Monday.

Tomorrow, we meet with Genetics about some of our previous blood work that has come back. Not too sure what exactly we will hear but its all part of the process I guess. Say a prayer for us as we continue on this journey of finding out exactly what is behind all of Lydons problems and what we can do to help him feel the best and be the best that he can be.

Update

Ok so...its been a while since I updated and Im a little a loss as to even what exactly I should say. Lydon is being Lydon...complicated but then again, I guess that's just normal. We received a call from the hypertension clinic last week. The nurse told me that she had gotten all of Lydons results in and they would like to move my appointment up a week. So we went in on Thursday. Dr. S came into the room and told me that he was a little dumbfounded. He said he had a whole spill of things ready to discuss with me such as what blood pressure medications were appropriate and which ones had which side effects. His plan was to discuss this and send Lydon home on bp meds. But...Lydon being himself threw us a curveball and gave us a bp that was the lowest we have ever seen it. It was still a little on the high side but nothing like what we have been seeing. So, Dr. S said that he was a little uneasy started him on a new medicine if his blood pressure is going to fluctuate or start to even out. Guess we'll see... We are starting to lean a little more towards the fluctuating issue because we have started seeing him exhibit HUGE mood swings for no apparent reason whatsoever! The other thing Dr. S is worried about is that the renal scan showed that his kidneys were smaller than they should be. He is wondering if there is a narrowing within his renal vessels that is the underlying cause of the high bp. He said this could likely be caused by his small kidneys. We are struggling with our therapy appointments. Our Physical therapist doesnt feel like she can proceed with any PT plans until we are sure about what is going on with his bp. We are having lots of trouble with Speech. It just seems like we arent getting anywhere speech wise. He says a word one time but then doesnt repeat it or use it again. Today he did terrible during therapy. He did nothing but cry, scream and grab his blankie to go back to bed after only being awake for about 20 minutes. She (the speech therpist) talked to me about something called Apraxia and possibly developing a more detailed motor developement plan(whatever that means). He is still running his low grade fevers like he has been for weeks now. We have an appointment with Immunology on Wednesday. Genetics on Thursday. Our sleep study is scheduled tonight. I will update later in the week with more info.

On a more urgent note, please keep the family of Cooper Knight in your prayers. His lost his courageous battle with Mitochondrial disease and his family are saying their final goodbyes today and tomorrow. Even though I didnt know this family personally my heart breaks for them like family. Godspeed Little Man.