Appointment this morning with genetics. Usually it goes we sit down, meet all the researchers blah blah blah....6 years we have been doing this same dance with our genetics research doctor, so why would I think today would be any different? We had heard over the years "We found something??? wait, no....no we didn't. Let's keep looking." We had a glimmer of hope today would be different, but I have learned to just have no real expectations and so we sat down ready to listen and go on our merry way. Today though, we see the assistant first and she has somewhat of a smile on her face. I am encouraged. We go through the usual "any changes, are these meds correct,ect...." and I answer, wondering if I dare ask what we will be talking about. As she is saying she was heading out to grab Dr. Dobyns, I blurt out "So, does he have something for us?" With a kind smile she says she believes he does and hurried to go get him. He always starts our meetings with updates himself on the specifics, long page front and back he fills in with my answers, and it's all I can do now to not just say OUT WITH IT!
Turns out all the previous possibilities aren't anywhere near where we landed. Matter of fact, he didn't get the information from his team until a few days ago! Life seemed to make sure we were all in the right place at the right time.
In a nutshell; her timeline post birth with the high lactic acid, the seizure types and the breath pausing spells really gave clinical confidence to his research findings. Coupled with her imaging of her brain showing the atrophy (shrinking) of certain areas, her head size and labs over the years, we learned was she fits with: Pontocerebellar Hypoplasia Type 6. It is a RARE diagnosis caused by a gene mutation in the cell base (mitochondria) that doesn't allow her to process proteins properly, specifically the arginie protein. It is a recessive condition that was inherited from her dad and me, nothing we would have to worry about with anyone else, but if we would have had more children, we would have had a high percentage of probability it would have occurred again.
I am adding a link here for an informative article from the National Organization for Rare Disorders that I found easy to read. (mind you it encompasses all the types with some general overviews with specific areas pertaining to type 6) Few things we still don't know around longevity and such, but our doctor is reaching out to a researcher who has studied this diagnosis specifically and hoping to fill in some of our blanks.
There is a "Mitochondrial Cocktail" that they may add to our routine. It's basically a mixture of specific vitamins that help support the mitochondria, it isn't a treatment or therapy. There is no cure or treatment, but we have know that all along our focus would be to learn from her magic spirit, not change it.
We await the last of the chain of steps to be completed, in about 4 weeks we should have the concrete diagnosis in hand. They just require a clinical lab to confirm the researchers findings, but he is very very confident we are here.
I wasn't sure how I would end up feeling. It changes nothing, but changes everything all at once. As I feel the one weight was lifted, I am now driven to read everything (which isn't much!) and become as much of an expert as I can, and that is a different weight I need to learn to balance.
I will keep updating as I learn more. I hope you take a moment to read the information, can skip to TYPE 6, but interesting to see the (in some cases small) variations between the types.
http://rarediseases.org/rare-diseases/pontocerebellar-hypoplasia/
THANK YOU ALL so much for all the love and support we always feel from you. I hesitated getting this all out tonight, but while it's fresh I thought was my best bet! So, I may add more as I have time to process and think, so stay tuned!
Monday, June 6, 2016
Sunday, September 20, 2015
Pain Pain, go away......
I am again sitting here, in front the computer, trying to figure out how to capture our last few days. One because a lot has happened, and one because I just don't know how. But, will try as I know so many of you are searching for an update and information on our favorite Gabby.
Pain, it is such a pain. A pain to control, a pain to figure out where it is coming from, and a pain to come up with a safe plan that works and helps. Gabby's pain had been increasing over the early days of the week last week, so we came to the conclusion that the dilaudid drip was our best bet. So, in comes pain team (since went there is an infusion, they take over the management of the dosing. Pain team is staffed by Anesthesiologists) to discuss our transition to the drip vs doses. I was anxious for this change, knowing Gabby's sensitivity to these things, but it was the next step in our treatment. So, I meet a member of the team early in the day. She came in and I felt she didn't seem to be interested much in what I had to say. My typical experience with the team was, "Let's get this present pain under control and then form our plan." Long story short, though I thought I had strongly mentioned Gabby's sensitivity to these types of medications, she was started on a drip that was under the previous day's average. I am to understand now, that is typical practice, but again....I informed them Gabby was not typical. The hope is a constant dose benefits the pain treatment at a lower dose vs bolus doses that come and go. That make sense for most, but not here. We saw an increase in pain very quickly and we lost some ground when the IV was suspicious and we had to pause the drip. As SOON as you get behind on pain, playing catch up is a no win situation. She began having more seizures, which made the pain worse, which made us give more meds.....I feel you can see the pattern. By the afternoon we had the team in here again. I was upset that we were so behind, and again I was hoping they would address the pain she was in at that moment, vs the whole plan. All that was accomplished was a small raise in her bolus doses. As the day went on, she became not only more tired from the seizures and stiffness, but all the meds were catching up to her. That night they called and RRT (rapid response team) to come assess her since her breathing was slowing but her heart rate was high and her oxygen saturation (O2 sats) was drifting lower. The RR Team has a Respiratory Therapist, the ICU doctor, an experienced ICU Nurse (risk nurse) and our Medical attending doctor. Needless to say, they were all concerned. We tried a seizure med bolus and I asked for the nasal trumpet (A little tube that went up her nose to keep her airway open) As soon as we got those in she relaxed. Due to the amount of medications she had received, and her rate of breathing being so low, we checked her Co2 in her blood and it was high....she wasn't breathing off the Co2 with the shallow slow breathing. We were about to be sent to the ICU for support. I was a wreck. I felt so betrayed by the pain team, I felt so betrayed by life at that moment, and so terrified if she went up to the PICU......would she ever come out. And that thought scared me the most. The team that was in here that night, those lovely, strong, compassionate people, did EVERYTHING they could to keep here down here on the floor....and it worked. Her Co2 levels did raise a little more, but she was stable. Soon as the 2am blood work was back that we could stay with our nurse (who's passion is critical care kids and will be an ICU nurse as of next month!) and on the floor I relaxed. Everyone had the same goal, and they were so supportive of me. I finally fell asleep too.
The next day we were going back to the OR to get a double PICC line to run her nutrition and meds in the one port vs all the little IVs that are so precarious. We all were a little worried with the anesthesia again, but she was looking up. PICC placement went well, but post op had some issues. We were called down there to assess her. She was shivering and had a high heart rate....and her breathing was loud. Oh man, I was so worried. Then the Dr's wanted to check that Co2 again. I almost lost my lunch. I didn't realize I was SO worried about that until it came up again and again we were faced with a trip to the ICU. All I remember is staring at the Drs, around this little machine that reads the blood gas, and not breathing myself....until finally the Dr held a thumbs up. The tears just flew and I almost lost my footing. So much relief in that moment. Since then we are having better days overall. Breakthrough pain is being managed well and I am feeling better heard by the pain team.
Speaking of pain team, I did request a conversation with the Attending the next morning, especially since I was so strongly vocal the night before about how I felt about her pain management, she needed to hear it from me. The conversation went great, I felt heard and they had an opportunity to see where they fell short...sadly at the expense of Gabby and almost causing the ICU visit. I mean, it can't be 100% proven that the mismanagement is the cause, but I knew in my heart it was. The dr was kind, and thoughtful, and listened and agreed that I didn't seem heard. She was remorseful and apooigized, noting we should have done more earlier on to control it, but pain meds are scary.....that fine line between too much and not enough is an intricate dance, and a very tough dance to learn. She said in the afternoon she was concerned about Gabby's respiratory rate, and I stopped her there and asked why wasn't I informed of that? That was an important piece of information that would have definitely altered my feelings and actions for the day. I believe that was a learning moment for her, and she thanked me for the honesty and said they are always learning. I do believe her. Since our talk, which we thanked each other for later on in the day again, things have been back to where I feel they should be. We, thanks to AMAZING people, avoided the ICU, have her double PICC line in, and her pain is no longer being a pain.
Sorry this is so long. I have been quiet and that makes people worried, and I have told this story so many times that I just couldn't anymore. So, I hope this helps update the major information. It helps me to write it out too. To read it myself and work through those fears of that night....of the ICU and what is could mean. They said one night for support and work off the extra meds, but I saw what felt like forever....... and in the end we all won.
Pain, it is such a pain. A pain to control, a pain to figure out where it is coming from, and a pain to come up with a safe plan that works and helps. Gabby's pain had been increasing over the early days of the week last week, so we came to the conclusion that the dilaudid drip was our best bet. So, in comes pain team (since went there is an infusion, they take over the management of the dosing. Pain team is staffed by Anesthesiologists) to discuss our transition to the drip vs doses. I was anxious for this change, knowing Gabby's sensitivity to these things, but it was the next step in our treatment. So, I meet a member of the team early in the day. She came in and I felt she didn't seem to be interested much in what I had to say. My typical experience with the team was, "Let's get this present pain under control and then form our plan." Long story short, though I thought I had strongly mentioned Gabby's sensitivity to these types of medications, she was started on a drip that was under the previous day's average. I am to understand now, that is typical practice, but again....I informed them Gabby was not typical. The hope is a constant dose benefits the pain treatment at a lower dose vs bolus doses that come and go. That make sense for most, but not here. We saw an increase in pain very quickly and we lost some ground when the IV was suspicious and we had to pause the drip. As SOON as you get behind on pain, playing catch up is a no win situation. She began having more seizures, which made the pain worse, which made us give more meds.....I feel you can see the pattern. By the afternoon we had the team in here again. I was upset that we were so behind, and again I was hoping they would address the pain she was in at that moment, vs the whole plan. All that was accomplished was a small raise in her bolus doses. As the day went on, she became not only more tired from the seizures and stiffness, but all the meds were catching up to her. That night they called and RRT (rapid response team) to come assess her since her breathing was slowing but her heart rate was high and her oxygen saturation (O2 sats) was drifting lower. The RR Team has a Respiratory Therapist, the ICU doctor, an experienced ICU Nurse (risk nurse) and our Medical attending doctor. Needless to say, they were all concerned. We tried a seizure med bolus and I asked for the nasal trumpet (A little tube that went up her nose to keep her airway open) As soon as we got those in she relaxed. Due to the amount of medications she had received, and her rate of breathing being so low, we checked her Co2 in her blood and it was high....she wasn't breathing off the Co2 with the shallow slow breathing. We were about to be sent to the ICU for support. I was a wreck. I felt so betrayed by the pain team, I felt so betrayed by life at that moment, and so terrified if she went up to the PICU......would she ever come out. And that thought scared me the most. The team that was in here that night, those lovely, strong, compassionate people, did EVERYTHING they could to keep here down here on the floor....and it worked. Her Co2 levels did raise a little more, but she was stable. Soon as the 2am blood work was back that we could stay with our nurse (who's passion is critical care kids and will be an ICU nurse as of next month!) and on the floor I relaxed. Everyone had the same goal, and they were so supportive of me. I finally fell asleep too.
The next day we were going back to the OR to get a double PICC line to run her nutrition and meds in the one port vs all the little IVs that are so precarious. We all were a little worried with the anesthesia again, but she was looking up. PICC placement went well, but post op had some issues. We were called down there to assess her. She was shivering and had a high heart rate....and her breathing was loud. Oh man, I was so worried. Then the Dr's wanted to check that Co2 again. I almost lost my lunch. I didn't realize I was SO worried about that until it came up again and again we were faced with a trip to the ICU. All I remember is staring at the Drs, around this little machine that reads the blood gas, and not breathing myself....until finally the Dr held a thumbs up. The tears just flew and I almost lost my footing. So much relief in that moment. Since then we are having better days overall. Breakthrough pain is being managed well and I am feeling better heard by the pain team.
Speaking of pain team, I did request a conversation with the Attending the next morning, especially since I was so strongly vocal the night before about how I felt about her pain management, she needed to hear it from me. The conversation went great, I felt heard and they had an opportunity to see where they fell short...sadly at the expense of Gabby and almost causing the ICU visit. I mean, it can't be 100% proven that the mismanagement is the cause, but I knew in my heart it was. The dr was kind, and thoughtful, and listened and agreed that I didn't seem heard. She was remorseful and apooigized, noting we should have done more earlier on to control it, but pain meds are scary.....that fine line between too much and not enough is an intricate dance, and a very tough dance to learn. She said in the afternoon she was concerned about Gabby's respiratory rate, and I stopped her there and asked why wasn't I informed of that? That was an important piece of information that would have definitely altered my feelings and actions for the day. I believe that was a learning moment for her, and she thanked me for the honesty and said they are always learning. I do believe her. Since our talk, which we thanked each other for later on in the day again, things have been back to where I feel they should be. We, thanks to AMAZING people, avoided the ICU, have her double PICC line in, and her pain is no longer being a pain.
Sorry this is so long. I have been quiet and that makes people worried, and I have told this story so many times that I just couldn't anymore. So, I hope this helps update the major information. It helps me to write it out too. To read it myself and work through those fears of that night....of the ICU and what is could mean. They said one night for support and work off the extra meds, but I saw what felt like forever....... and in the end we all won.
Sunday, January 4, 2015
My Ideal
The backspace button and I are becoming quite close in regards to this post! "How?" you ask yourself, as this is only the first line? Well, what you don't see on the screen, like you would see on paper, is how many times I have started, erased, and restarted this post. I struggle with the transition from thoughts and feelings to words. Well, I don't seem to struggle at 3am when everything I want to say just flows naturally from my sleep deprived brain to what I hope is my memory, but turns out all I want to say must go the the CLOUD, whatever that is! I know it's supposedly a safe place for all of your most important things, but I am still unsure how to retrieve anything from there! So, please bare with me as I piece together all the things I have wanted to share over the year. I will have to rely on the old school 'memory', and that has been needing an upgrade for a while :)
As I lie awake those nights, being open and raw comes easy. Of course it does, I am safe in my own head, in my bed, and am supported by the strongest person I know in the world (the strongest even as she sleeps!). I take deep breaths and can eloquently dictate my fears and worries and know as soon as I can, I will let them out. Then morning comes, and in the light of day, those fears that I felt I could tackle seem bigger than I am, and for another day, they win. This year, I didn't set any resolutions, but rather an ideal. My ideal is to be as strong on the inside as I am on the outside.(like so many of my friends have done this year...you have all inspired me with your open and raw feelings to your realities) There is that small part of me, every time I hear someone say I have it all together, that wants to shout that indeed I do not! I do alright, yes, but I feel I could do more. And that's where this post comes in, and this is my first step in finding my ideal inside.
This past year, though full of smiles, love and laughter, has been riddled with uncertainties. I have had some bumps within my personal life as well as health, (diagnosed with hypothyroid, sprained SI joint, and currently a hip pull that is taking months to heal!). The biggest difficulties have been around Gabby's health, as am sure you all may have guessed. It is time to set aside those fears, and fight through my initial reaction to just say never mind, all is good. This is where I always struggle, for once you figure out how to access that cloud of feelings, and they aren't protected anymore, it is all quite real. Sometimes I prefer to ignore the real :)
In a small nutshell, Gabby is still undiagnosed. There are speculations here and there, but nothing so far has come in definitive. Our team here in Seattle has been working hard at trying their best to solve my beautiful mystery. This summer, during one week, we sat down with her research geneticist and her neurologist in 2 separate appointments. For as much as the appointments were filled with the same conversations, we were also made aware that given her worsening scoliosis contributing to breathing issues, seizures that were increasingly difficult to control, and her long hospital stays leaving her a little weaker every time, we needed to be prepared she may be with us only a year or 2 more. Even though there is no diagnosis, her progression follows a somewhat established curve. I was prepared for the heavy conversation with the research doctor, but not so much with her neurologist. He and I have a routine when it comes to our appointments. I blab about what I see, ask my questions, share some stories then he takes it all in and responds with his suggestions and we share a little laugh and we are on our way. This time was different. He came in, and sat in front of me and spoke first. I knew then, this wasn't my usual check in appointment. I could read on his face, that we had some things to discuss that would be hard. While going over her EEG from the June admit, I interrupted and asked about some periods of no activity I saw on the screen. I told him I was talking to the nurse and noticed on her screen, all 4 lines were flat....As much as I was prepared in my head for the answer, I wasn't prepared to have it confirmed. Those flat lines mean no activity.... she apparently has had short stints like that in previous EEGs, but these were longer and more frequent. To this day, 6 months later, I still can't fully grasp that information. And in the grand scheme of things, I am not sure what it means, only that is part of this overall progression and something to use as a tool in trying our best to figure her out.
These discussions eventually lead us to have a care conference with our support team while Gabby was inpatient in the fall. This conference was initiated by Gabby's dad and myself. We knew it was time to sit down and attempt to figure out all that hard to figure out stuff. Our desire was to talk with these people who know us and know Gabby, during a time where we could be honest with ourselves, without the distractions of being in THAT moment. It was weirdly uplifting. I went in the room feeling heavy hearted and overwhelmed, but left feeling very supported, educated and like we will be surrounded with nothing but respect and love. I know that entire conversation could have gone different. I know for so many others it probably has, and that just again makes me feel like we are so extremely lucky to be where we are. These relationships with these caregivers are ones I know will stay with me through my life.
This news, this news wasn't news, that's just it. I always knew it. Always knew our lives wouldn't include so many things parents and children get to experience. Yet this was the first time, since the NICU doctor who transferred us to Children's when Gabby was 3 days old told Greg and I she didn't think Gabby would survive the night, that a timeline had been placed on us. So it became front page news in my head and heart. On the outside I made it all grand for Gabby and the family. Many times we went and did, even though I knew it was too much for Gabby, but we had to try. Right? Like dragging her, wheelchair and all, onto the beach in Seaside this summer. I just had to get her to the sunset and her toes in the sand, even if it meant dragging her through the sand dunes at my own back's expense. She needed that opportunity. I needed that experience WITH her.
I mean, what's a life on the couch with no experiences? Where I struggle internally is, what's a life full of missed experiences because you are unable to be present while in those moments? Those struggles earlier on were fleeting. I wouldn't let them take residence up in my head, but you can only take so many disappointments before the questions outweigh the answers. Then the bitterness comes back, and it gains strengths with each wave. Then they crash on you, like while in the bathroom administering diastat, while once again missing out on something, they crash through in tears you can't stop. Tears you are willing to go away because you know they aren't doing any good. What good comes from being mad and angry at something you can't control? Then you realize, it sucks. It isn't fair, yes I know life isn't fair, that's not what I mean. I don't feel I deserve everything to always go right, or be easy, or work out. But at some point, when nothing goes right, nothing feels easy and you can't remember the last time something just worked out, that's what you are angry at. All the planning, and rearranging to give Gabby the opportunity to experience something she would enjoy and time with her family, and none of it ends up feeling like it matters. You want to blame something, or someone....you want to yell and scream, but to who? To what? and that vicious cycle of bitterness and anger continue. There comes a time when you can take a step back and put that nonsense in its place, and I am good at that. Too good. I forget it is there until it sees the tiny crack. I am hoping that by being more transparent here, and allowing my bitterness to flow out, it will flow away. The seams can heal, and I can be strong again. It is so hard wondering if the next crack will be the one that brings you down hard, and you know you can't be down for long. My ideal is to tell myself it is OK to be down at times, to be weak, to be vulnerable....to deal with those feelings because each time I get up, I will be stronger. I will be healthier. I will be on the inside what I show on the outside.
As I lie awake those nights, being open and raw comes easy. Of course it does, I am safe in my own head, in my bed, and am supported by the strongest person I know in the world (the strongest even as she sleeps!). I take deep breaths and can eloquently dictate my fears and worries and know as soon as I can, I will let them out. Then morning comes, and in the light of day, those fears that I felt I could tackle seem bigger than I am, and for another day, they win. This year, I didn't set any resolutions, but rather an ideal. My ideal is to be as strong on the inside as I am on the outside.(like so many of my friends have done this year...you have all inspired me with your open and raw feelings to your realities) There is that small part of me, every time I hear someone say I have it all together, that wants to shout that indeed I do not! I do alright, yes, but I feel I could do more. And that's where this post comes in, and this is my first step in finding my ideal inside.
This past year, though full of smiles, love and laughter, has been riddled with uncertainties. I have had some bumps within my personal life as well as health, (diagnosed with hypothyroid, sprained SI joint, and currently a hip pull that is taking months to heal!). The biggest difficulties have been around Gabby's health, as am sure you all may have guessed. It is time to set aside those fears, and fight through my initial reaction to just say never mind, all is good. This is where I always struggle, for once you figure out how to access that cloud of feelings, and they aren't protected anymore, it is all quite real. Sometimes I prefer to ignore the real :)
In a small nutshell, Gabby is still undiagnosed. There are speculations here and there, but nothing so far has come in definitive. Our team here in Seattle has been working hard at trying their best to solve my beautiful mystery. This summer, during one week, we sat down with her research geneticist and her neurologist in 2 separate appointments. For as much as the appointments were filled with the same conversations, we were also made aware that given her worsening scoliosis contributing to breathing issues, seizures that were increasingly difficult to control, and her long hospital stays leaving her a little weaker every time, we needed to be prepared she may be with us only a year or 2 more. Even though there is no diagnosis, her progression follows a somewhat established curve. I was prepared for the heavy conversation with the research doctor, but not so much with her neurologist. He and I have a routine when it comes to our appointments. I blab about what I see, ask my questions, share some stories then he takes it all in and responds with his suggestions and we share a little laugh and we are on our way. This time was different. He came in, and sat in front of me and spoke first. I knew then, this wasn't my usual check in appointment. I could read on his face, that we had some things to discuss that would be hard. While going over her EEG from the June admit, I interrupted and asked about some periods of no activity I saw on the screen. I told him I was talking to the nurse and noticed on her screen, all 4 lines were flat....As much as I was prepared in my head for the answer, I wasn't prepared to have it confirmed. Those flat lines mean no activity.... she apparently has had short stints like that in previous EEGs, but these were longer and more frequent. To this day, 6 months later, I still can't fully grasp that information. And in the grand scheme of things, I am not sure what it means, only that is part of this overall progression and something to use as a tool in trying our best to figure her out.
These discussions eventually lead us to have a care conference with our support team while Gabby was inpatient in the fall. This conference was initiated by Gabby's dad and myself. We knew it was time to sit down and attempt to figure out all that hard to figure out stuff. Our desire was to talk with these people who know us and know Gabby, during a time where we could be honest with ourselves, without the distractions of being in THAT moment. It was weirdly uplifting. I went in the room feeling heavy hearted and overwhelmed, but left feeling very supported, educated and like we will be surrounded with nothing but respect and love. I know that entire conversation could have gone different. I know for so many others it probably has, and that just again makes me feel like we are so extremely lucky to be where we are. These relationships with these caregivers are ones I know will stay with me through my life.
This news, this news wasn't news, that's just it. I always knew it. Always knew our lives wouldn't include so many things parents and children get to experience. Yet this was the first time, since the NICU doctor who transferred us to Children's when Gabby was 3 days old told Greg and I she didn't think Gabby would survive the night, that a timeline had been placed on us. So it became front page news in my head and heart. On the outside I made it all grand for Gabby and the family. Many times we went and did, even though I knew it was too much for Gabby, but we had to try. Right? Like dragging her, wheelchair and all, onto the beach in Seaside this summer. I just had to get her to the sunset and her toes in the sand, even if it meant dragging her through the sand dunes at my own back's expense. She needed that opportunity. I needed that experience WITH her.
I mean, what's a life on the couch with no experiences? Where I struggle internally is, what's a life full of missed experiences because you are unable to be present while in those moments? Those struggles earlier on were fleeting. I wouldn't let them take residence up in my head, but you can only take so many disappointments before the questions outweigh the answers. Then the bitterness comes back, and it gains strengths with each wave. Then they crash on you, like while in the bathroom administering diastat, while once again missing out on something, they crash through in tears you can't stop. Tears you are willing to go away because you know they aren't doing any good. What good comes from being mad and angry at something you can't control? Then you realize, it sucks. It isn't fair, yes I know life isn't fair, that's not what I mean. I don't feel I deserve everything to always go right, or be easy, or work out. But at some point, when nothing goes right, nothing feels easy and you can't remember the last time something just worked out, that's what you are angry at. All the planning, and rearranging to give Gabby the opportunity to experience something she would enjoy and time with her family, and none of it ends up feeling like it matters. You want to blame something, or someone....you want to yell and scream, but to who? To what? and that vicious cycle of bitterness and anger continue. There comes a time when you can take a step back and put that nonsense in its place, and I am good at that. Too good. I forget it is there until it sees the tiny crack. I am hoping that by being more transparent here, and allowing my bitterness to flow out, it will flow away. The seams can heal, and I can be strong again. It is so hard wondering if the next crack will be the one that brings you down hard, and you know you can't be down for long. My ideal is to tell myself it is OK to be down at times, to be weak, to be vulnerable....to deal with those feelings because each time I get up, I will be stronger. I will be healthier. I will be on the inside what I show on the outside.
Wednesday, November 6, 2013
I KNOW....
Hello! I know it has been a while since my last post, but I can only describe the delay as 'expected'. We all know how life can be, and life for us is no different in that aspect. All of a sudden the year is almost up, and we wonder where the time goes until we really think of what has filled our days and then it all makes sense.
I know an update on the details of the last many months should be my theme here, (and I PROMISE a year review before we start 2014) but something occurred to me this morning, and I feel it important I visit it with all of you.
So many times when I share about Gabby, I always try to explain how I know there is a "Gabby in there" even though she's isn't able to communicate. (This is in regards to people who have not met Gabby. For example insurance people ect.) So many times I can hear the uncertainty in people's voices, trying hard to understand and/or comfort me in their own way that they are glad to know I can connect with her ect. Over the years I have learned to just smile and nod and say things like. "yes, it is helpful I can connect with her" or, " spending all my time with her I hope I have been able to pick up on a few things, HA HA HA...". I wonder sometimes if they leave the conversation feeling sorry for me or pity, wondering how I can have a relationship with someone who doesn't 'give back' in the traditional way. What struck me today, and it has in the past as well, but today was exceptionally strong for whatever reason, was how easy it really is to read her basic needs and emotions. There are SO many things I don't know about her, and spend a great deal of my time taking the most educated of guesses following my heart, but today I was reminded of what I DO KNOW. Here's the scene. Bath time for Gabby. She has always seemed a little unhappy about baths, even as a baby. Though I always cherished it because it is typical, everyone bathes their kids and I got to do it too. (little things mean so much) Today as I was bathing her and talking to her like I do, I warned her it was time to wash her face. I warn her because I know she isn't a fan...and it clicked. I KNOW. I KNOW she hates her face washed. Then I watch her, how do I know this? As I start to wipe she groans, makes a grumpy grimace face and TURNS HER HEAD. I stop and look at her. Wow, that is how I know. It is a typical behavior, she was very much letting me have it.
I can't honestly explain why this touched me so profoundly today, it was a typical bath time and nothing really out of the ordinary, but it did. It allowed me to really appreciate the comments of those who meet her after I explain she's non verbal. One being, the minute they met her, saying "I wasn't expecting her eyes to say so much, she really is present". Others including her in their conversations and actions because they know, yes they too KNOW, she is giving back to them in her own way. I am in awe of this journey and what it has taught me so far. I have seen the spectrum of people's reactions to her, but it fills me up to think the majority of interactions have held something positive for everyone, especially Gabby. This too, I KNOW!
I know an update on the details of the last many months should be my theme here, (and I PROMISE a year review before we start 2014) but something occurred to me this morning, and I feel it important I visit it with all of you.
I can't honestly explain why this touched me so profoundly today, it was a typical bath time and nothing really out of the ordinary, but it did. It allowed me to really appreciate the comments of those who meet her after I explain she's non verbal. One being, the minute they met her, saying "I wasn't expecting her eyes to say so much, she really is present". Others including her in their conversations and actions because they know, yes they too KNOW, she is giving back to them in her own way. I am in awe of this journey and what it has taught me so far. I have seen the spectrum of people's reactions to her, but it fills me up to think the majority of interactions have held something positive for everyone, especially Gabby. This too, I KNOW!
Monday, February 4, 2013
The Good From the Bad...
Been a while, again, I know! If it helps, I write these posts in my head over and over, but seem to struggle with just sitting down and doing it. I suppose I will try for once a month and anything else will be bonus :)
So, the holidays were great. After a few viruses and icky fights with germs, we had our first healthy Christmas and New Years in, I think ohhh, 3 years (possibly 4). I am hoping the good start means a better year for her, health wise. We spent Christmas here in town at my brother's house, and she was all smiles all day. I know on levels I can't explain that Gabby 'gets it' often and we all saw her connection with family and spirit of the season that day. More memories to add to her bank! (Good from the bad here, in comparison to past holidays of illness and fear, Gabby was strong and present for this year)
Seizures, a word I hate with my every fiber. I have had to say it often lately, and it never gets 'ok'. We had a plan, to reduce a medication (Banzel) that we were certain wasn't really helping her and transition her to another medication we haven't tried yet (Felbamate). Well, either her system is so sensitive to any change whether the medication works or not, or this medication was indeed working and the wean wasn't going as easy as we hoped because she experienced a prolonged seizure while at school that required we use her rescue medication to stop it. Now, this seizure was unlike any other we have previously witnessed, and her team of teachers at the school are credited with noticing Gabby wasn't breathing normal and seemed a bit out of it so they called to fill me in. I went there right away thinking she was coming down with a cold (already had a call in to her pediatrician's office too for them to listen to her chest) and Gabby was certainly off. Something in me just said she was seizing. I can't really explain why, just a feeling. So, we grabbed a flashlight and checked her pupils and they were fixed and nothing was getting her to respond, not even me pinching her fingernail cuticle. So, everyone worked together and got her down and her rescue med administered and Gabby popped out of it after about 7 minutes. The school staff was so attentive and had documented everything that I was able to inform her neurologist, and can say with some certainty that Gabby was seizing for 45 minutes. The good from this bad was learned more about her, this was all new and it gave another lesson on how to care for her. So, the next week when they saw the same behaviors, they were so on top of it the episode was only about 15 minutes from noting to diastat working. Life is certainly and education and we never stop learning.
Minus a little cold, she's been doing ok as of late. Between the cold and seizures her botox appointment has been postponed twice, so she's back to being a drooly mess, but that will be fixed next week (fingers crossed!)
So, the holidays were great. After a few viruses and icky fights with germs, we had our first healthy Christmas and New Years in, I think ohhh, 3 years (possibly 4). I am hoping the good start means a better year for her, health wise. We spent Christmas here in town at my brother's house, and she was all smiles all day. I know on levels I can't explain that Gabby 'gets it' often and we all saw her connection with family and spirit of the season that day. More memories to add to her bank! (Good from the bad here, in comparison to past holidays of illness and fear, Gabby was strong and present for this year)
Seizures, a word I hate with my every fiber. I have had to say it often lately, and it never gets 'ok'. We had a plan, to reduce a medication (Banzel) that we were certain wasn't really helping her and transition her to another medication we haven't tried yet (Felbamate). Well, either her system is so sensitive to any change whether the medication works or not, or this medication was indeed working and the wean wasn't going as easy as we hoped because she experienced a prolonged seizure while at school that required we use her rescue medication to stop it. Now, this seizure was unlike any other we have previously witnessed, and her team of teachers at the school are credited with noticing Gabby wasn't breathing normal and seemed a bit out of it so they called to fill me in. I went there right away thinking she was coming down with a cold (already had a call in to her pediatrician's office too for them to listen to her chest) and Gabby was certainly off. Something in me just said she was seizing. I can't really explain why, just a feeling. So, we grabbed a flashlight and checked her pupils and they were fixed and nothing was getting her to respond, not even me pinching her fingernail cuticle. So, everyone worked together and got her down and her rescue med administered and Gabby popped out of it after about 7 minutes. The school staff was so attentive and had documented everything that I was able to inform her neurologist, and can say with some certainty that Gabby was seizing for 45 minutes. The good from this bad was learned more about her, this was all new and it gave another lesson on how to care for her. So, the next week when they saw the same behaviors, they were so on top of it the episode was only about 15 minutes from noting to diastat working. Life is certainly and education and we never stop learning.
Monday, November 26, 2012
The search continues.....
Today was a long day of appointments for Gabby. My eyes hurt and my head is still swimming the in depth discussion I had with our Research Genetics doctor, Dr. William Dobyns. We are lucky to be working with such a passionate man who really wants to learn all he can about his patients and families to try to help others. It has been 2 year since we have sat down with him to discuss Gabby and her health issues, but it was time well spent. He walked in talking about Gabby as if it had only been a short time since our last meeting, he knew all about her recent stays and medical hurdles. I will try my best to sum up all we talked about here, but know I am tired so this may all be a tad jarbled. Some of the things we discussed are tough to talk about, so bare with me as they may be vague in detail still.
Dr. Dobyns is so interested in Gabby he has invested a great deal of resource, time and money into helping us all learn about the cause of Gabby's health issues. He sat and talked to me like we were colleagues, not like I was someone who wasn't trying her hardest to comprehend all the big words and complex processes. He just made me feel confident and competent. We were in appointment for almost 1.5 hours!!! Never once did he rush my questions or look at the clock.
First was the research in Helsinki, Finland. That is still going on even tough I figured after a year and a half of no information that meant she was negative for the gene they have identified over there. It turns out they are 'just slow' according to the doctor today, so he didn't wait and began his own testing with a sample of DNA from Gabby, Greg, and Me. Some of that has come back recently, and with some abnormalities. So, if I am understanding correctly the next step is identifying specifically what is abnormal. One they have conformed was a false positive. Dr. Dobyns gave me the email address to the guy he is working with who is doing the lab/technical stuff and encouraged me to be in touch with him throughout the process! I was so excited to know we didn't just have to sit back and wait.
We talked about the brain atrophy, and the fact he is fairly confident for the time being it is all status quo, and any deterioration from now "SHOULD" be subtle, meaning her developmental issues should be baseline now.
He suggests we put most of our focus on her seizures, since that's really all we have an opportunity to control (or gain some type of control, which we have never really had). The term quality of life came up again, and we were both in agreement that seizures can really disrupt any type of connection she may be making with her surroundings, so getting a strong handle on that (as best we can) should be top agenda. We are in the process of changing up meds, so her seizures have been an issue again...but hoping we get back to keeping those numbers down again soon. Always a long process to change meds, and Gabby get's so attached to them, it can take up to a year to accomplish our goals.
And with that quality of life discussion came the topics I just don't want to revisit yet. The what to do if, or when do we consider..... we aren't facing them just yet, so I chose to see the wonderful things every day we get to enjoy with each other. I am taking the suggested steps and talking to a professional already on being in a strong place....but why miss out on what is here while worrying about what may be there later.
Overall I am hopeful and terrified. There is a SLIGHT chance something uncovered could have some type of treatment, or therapy or tools to learn from to continue to improve Gabby, no cure but things that could assist her. I just know that no matter what we find, we will have learned from our adorable little teacher here, and what a great gift to share with the world, the gift of hope.
Dr. Dobyns is so interested in Gabby he has invested a great deal of resource, time and money into helping us all learn about the cause of Gabby's health issues. He sat and talked to me like we were colleagues, not like I was someone who wasn't trying her hardest to comprehend all the big words and complex processes. He just made me feel confident and competent. We were in appointment for almost 1.5 hours!!! Never once did he rush my questions or look at the clock.
First was the research in Helsinki, Finland. That is still going on even tough I figured after a year and a half of no information that meant she was negative for the gene they have identified over there. It turns out they are 'just slow' according to the doctor today, so he didn't wait and began his own testing with a sample of DNA from Gabby, Greg, and Me. Some of that has come back recently, and with some abnormalities. So, if I am understanding correctly the next step is identifying specifically what is abnormal. One they have conformed was a false positive. Dr. Dobyns gave me the email address to the guy he is working with who is doing the lab/technical stuff and encouraged me to be in touch with him throughout the process! I was so excited to know we didn't just have to sit back and wait.
We talked about the brain atrophy, and the fact he is fairly confident for the time being it is all status quo, and any deterioration from now "SHOULD" be subtle, meaning her developmental issues should be baseline now.
He suggests we put most of our focus on her seizures, since that's really all we have an opportunity to control (or gain some type of control, which we have never really had). The term quality of life came up again, and we were both in agreement that seizures can really disrupt any type of connection she may be making with her surroundings, so getting a strong handle on that (as best we can) should be top agenda. We are in the process of changing up meds, so her seizures have been an issue again...but hoping we get back to keeping those numbers down again soon. Always a long process to change meds, and Gabby get's so attached to them, it can take up to a year to accomplish our goals.
And with that quality of life discussion came the topics I just don't want to revisit yet. The what to do if, or when do we consider..... we aren't facing them just yet, so I chose to see the wonderful things every day we get to enjoy with each other. I am taking the suggested steps and talking to a professional already on being in a strong place....but why miss out on what is here while worrying about what may be there later.
Overall I am hopeful and terrified. There is a SLIGHT chance something uncovered could have some type of treatment, or therapy or tools to learn from to continue to improve Gabby, no cure but things that could assist her. I just know that no matter what we find, we will have learned from our adorable little teacher here, and what a great gift to share with the world, the gift of hope.
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| taken her first day in the NICU, arm up saying "I WLL FIGHT THIS" |
Thursday, October 25, 2012
What' new!
Oh my, it has certainly been a while since I have taken the time to update you on our days. I made a promise to Gabby while admitted that she would indeed get some plain ol' summer fun after we got home, and I have worked hard to keep that promise to her!
As I write this, Gabby is being treated for another UTI and getting over a nasty viral bug. As careful as we all are with her and germs, some things are just inevitable I see! We have had check ups with most of her doctors post admit, they are pleased with how she's getting back to her baseline, our 2 big hurdles being kidney stones and adjusting seizure medications (which could be playing a part in her stone issue as well). As most of you know, we had another surgery planned earlier this year that was obviously postponed due to the complications from her initial surgery. Last week we had a great sit down with the Orthopedic doctor and openly discussed all that the hip surgery would entail. I felt so good leaving his office as we were both on the same page from the get go! Basically that surgically pinning her hip bones into their socket would in no way extend her life expectancy, but in so many ways could decrease it so we aren't doing anything at this time. He assured me that there shouldn't be any discomfort at this point, and with her back brace doing its job that we are safe to wait and see what the next year brings. We all want to see her just strong and healthy and enjoy her world around her, so it's time that is our main focus and go from there. All of my concerns were addressed and I felt very educated and listened too.
Now on to the FUN stuff! We have spent many afternoons with the girls at the local park, swimming, riding around the neighborhood,making friends and enjoying the most beautiful summer weather we had.
Our other big family news was we were lucky enough to join my folks and brother and family on a super awesome Disney Cruise in October. (THANK YOU MOM AND DAD!) It sailed the coast of California and Ensenada Mexico. The weather was gorgeous and the ship was spectacular. Everyone just doted on Gabby and were so accommodating. We had an accessible room for her chair (was 1" to wide to get through a regular door, so big room it was!) and it was AMAZING!!! not only was it roomy (yes, I said roomy on a cruise ship) and clean and comfortable, but my PRIVATE deck off the back was half the back of the ship. It was perfect. Gabby and I had some super awesome quality time just being together, I know I filled my heart with even more special moments. Shea and Scarlett were even very involved in making sure Gabby didn't miss anything, and I also know they connected with her again in a way they don't do here with all of life around us.
The above moments that were captured were but a few, but I hope you can see in our faces what a perfect time we had. Not many families can boast a connection like mine, and I am proud to say we are close and strong. We laughed a lot, listened a lot and smiled even more. Now, when can we go again!??!?!
As I write this, Gabby is being treated for another UTI and getting over a nasty viral bug. As careful as we all are with her and germs, some things are just inevitable I see! We have had check ups with most of her doctors post admit, they are pleased with how she's getting back to her baseline, our 2 big hurdles being kidney stones and adjusting seizure medications (which could be playing a part in her stone issue as well). As most of you know, we had another surgery planned earlier this year that was obviously postponed due to the complications from her initial surgery. Last week we had a great sit down with the Orthopedic doctor and openly discussed all that the hip surgery would entail. I felt so good leaving his office as we were both on the same page from the get go! Basically that surgically pinning her hip bones into their socket would in no way extend her life expectancy, but in so many ways could decrease it so we aren't doing anything at this time. He assured me that there shouldn't be any discomfort at this point, and with her back brace doing its job that we are safe to wait and see what the next year brings. We all want to see her just strong and healthy and enjoy her world around her, so it's time that is our main focus and go from there. All of my concerns were addressed and I felt very educated and listened too.
Now on to the FUN stuff! We have spent many afternoons with the girls at the local park, swimming, riding around the neighborhood,making friends and enjoying the most beautiful summer weather we had.
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| Swimming and Auntie Abbie's with Carmen and Alex |
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| Speeding through the 'hood in my tricked out ride |
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| I LOVE the park and fresh air |
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| I LOVE how she's pointing to her shirt |
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| Happy 10th Anniversary Scott and Michelle |
The above moments that were captured were but a few, but I hope you can see in our faces what a perfect time we had. Not many families can boast a connection like mine, and I am proud to say we are close and strong. We laughed a lot, listened a lot and smiled even more. Now, when can we go again!??!?!
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