I wish for the next few months I could disappear and not have to deal with other people or appointments or bad news... That would be so nice!
Everyone one around is making this process even more stressful. There are these insanely selfish people who do whatever they want and then are shocked that you disagree with their stupid mistakes and dont care at all that you might be going through something little more important than their screw up lives.
Or these drama queens who want to make up all this trouble about their own pregnancies, but yet the baby is totally fine?? How can there be problems and a totally fine baby at the same time. I dont get it. And I dont understand why someone would want to make up all these problems about a pregnancy, that very desperate for attention? I just wish people understood how it isn't impressive to make up drama, or flaunt their stupid decisions around to people who have dealt with real problems, real tragedies, or an actual high risk pregnancy.
I feel so depressed about everything going on, and then when may goes to school I get nothing done because I feel too gloomy. Then we get the opposite effect where people tell us, everything will be just fine, it is God's way, He knows what's best and you just have to believe and have faith that everything will be fine. I understand where people are coming from.. You think if you were in this situation you would think like this. But what people dont understand is we did think like this! Lua will get better, she will walk, she will be able to get the trach out, we believed that everything would work out. But it didn't. Some see her passing as a blessing in disguise, but now that we know what to expect, we have nothing left in us for strength. And we certainly can't watch another baby die. I wish so badly I could pull out the bad gene in us and could have protected our children. I just don't think people fully understand the pain we are enduring. I know we could have it much worse... But this is our worst for now. I just don't like seeing people make stuff up when they will go on to have happy healthy babies.
I'm really anxious about the next ultrasound.. I so dont want to go.. I dont want anymore bad news!
Monday, September 28, 2015
Wednesday, September 23, 2015
Stressing...
The last few days have been a lot of struggling.. Every time I check the notes from the doctors I learn something new that I don't want to know. And today the geneticists emailed me and said it sounds like the baby will have to be transferred to one of the bigger children's hospitals as soon as the baby is born. Ah, how frustrating this is. How much time will we get to spend with our baby before he is whisked away and have test after test performed on him? That is not how I want his life to start. I don't want to feel like a project or a rat they perform test on after test. I saw that with Lua and we were so fed up with it that we cancelled all genetic appointments because I couldn't take it anymore! I couldn't watch them poking her over and over and now they want to start right away on our son. I feel like I have no choice in the matter either. When I was in labor with Lua, the thing I could spend my time focusing on was the fact I would soon have a baby I could lay on my chest, right. This helped a lot while I was stuck at 9cm for 3 hours!!!! But I didn't even get to see my baby for 6 hours. I had NO CLUE how bad labor hurt afterwords when you don't get to snuggle the baby!!! With May I don't remember having any hard contractions while the third stage of labor took place... but I felt everything with Lua! How does someone go through labor knowing they wont get to see their baby in the end of it? I get the point that I should be grateful that we are going to have all the precautions taken place for if the worst were to happen, but I won't be able to have another child, and a birthing plan is something really important to me and I feel like I have lost all control over it, just like I had no control in what happened with Lua for 3 months of her life. It is all very hard to take in. I'm trying so hard to see the best side of it and keep the hope up, but i'm having troubles eating and sleeping and the stress is just eating at me.
One day at a time I suppose.
One day at a time I suppose.
Tuesday, September 22, 2015
More appointments
Another ultrasound appointment is coming up next week already. It is a very early morning one, so I am interested to see if anything has changed. I just recently read the write up from the doc on the last ultrasound and found out some things that I didn't know. They believe that our baby is club footed, and he also has some fluid on/in his head, about 1 cm so I think that is what they may be wanting another ultrasound for, beside that his head was flexed down and if he stays like that he will develop contractures in his jaw. neck, and stuff I guess. Sooo that is where we are at now I suppose.
Each day has been sort of a struggle, and about the time we are feeling better we have an appointment and find out more bad news. I think that is what the hardest part is, having to be beaten down each time with the facts of what we are looking at. But it is what it is. If I could change my genetics I would do it in a heartbeat. If I could change what happened to him, I would have done it months ago. But not much I can do at this point.
I have gotten some ideas of what to do to help baby move, the more active he is the better it is, so we are trying to keep that up. We are trying to work out what type of experimental trials or drugs that are out there that we can give him so he has the best chances possible. My hopes are to stay proactive, prepare for the worst and hope for the best.
We will probably be looking at Madison and seeing how we like it, if we like it enough we will probably deliver the baby there, the next thing for us is to decide what hospital will be best for us. I don't think we had the best care while we were in milwaukee so it would be nice to look at a different hospital and maybe have a clean start, but if it looks like it wont work with madison we will probably have to head back towards milwaukee. So i suppose we have a few months to figure everything out.
Each day has been sort of a struggle, and about the time we are feeling better we have an appointment and find out more bad news. I think that is what the hardest part is, having to be beaten down each time with the facts of what we are looking at. But it is what it is. If I could change my genetics I would do it in a heartbeat. If I could change what happened to him, I would have done it months ago. But not much I can do at this point.
I have gotten some ideas of what to do to help baby move, the more active he is the better it is, so we are trying to keep that up. We are trying to work out what type of experimental trials or drugs that are out there that we can give him so he has the best chances possible. My hopes are to stay proactive, prepare for the worst and hope for the best.
We will probably be looking at Madison and seeing how we like it, if we like it enough we will probably deliver the baby there, the next thing for us is to decide what hospital will be best for us. I don't think we had the best care while we were in milwaukee so it would be nice to look at a different hospital and maybe have a clean start, but if it looks like it wont work with madison we will probably have to head back towards milwaukee. So i suppose we have a few months to figure everything out.
Friday, September 18, 2015
Chasing the Sun
I, probably obviously, have a lot of feelings/opinions about our new current situation with our baby having contractures and same condition as our daughter that passed away had. I probably shouldn't be writing this in my unstable state, I for sure shouldn't post it, I only slept like 3 hours last night so besides this being a super depressing post, it will be amazing if it makes any sense.
There is this song called Chasing the Sun, I had it on my playlist for awhile but the other day when I was really missing Lua, it popped up again, and it was so fitting... for our son!
There is this song called Chasing the Sun, I had it on my playlist for awhile but the other day when I was really missing Lua, it popped up again, and it was so fitting... for our son!
baby Sol
(pronounced like Saul, means Sun in portuguese)
I'm going to be honest.. when I found out I was pregnant I thought it could go two ways, nothing would come up because they wouldnt find a diagnosis on Lua, which would give us really big hopes that it was a huge fluke thing and it would never happen again! Or, everyone would freak out about everything that came up, I would have to go to a special place to deliver, he would be born and be 100% healthy. I think we are for sure headed towards having to deliver next to a childrens hospital, but the possibility of this all for nothing is quickly going out the door. You can see clear evidence that his wrist is pretty stuck there, and this is the same position he has been in for 3 ultrasounds. My hopes are quickly fading away that he will be perfectly healthy, and remembering everything we went through with Lua is becoming more real and unbearable. I can't live every day in fear of another baby dying, I know I'm being a child, but I don't want to do all that work again. It was truly too hard and I didn't get an option last time. This time I get to sit and think about everything for the next 3 months and how horrible things use to be, we had a baby to hold when things were hard, but we can't do that right now and that makes decision making extremely difficult. But also, this guilt, is ridiculous. I have ruined not just Lua's life, baby Sol, May, who believes she will have a healthy brother to play with, but also my husbands life. He deserved to have a baby boy more than anyone, a baby to play catch with and run with and soccer, all those things he has wanted, but because I'm foolish and believed nothing bad could happen to us again, felt it was perfectly fine to try again for a baby before learning Lua's diagnosis. So much irresponsibility, we aren't the couple that can blindly plan for a family, and now we know we are a couple that cannot go on to have any more healthy kids. That is the problem with hearing this news about Sol, his life and any future plans are stripped away from us.
My heart aches for May the most. It is unbelievable that she will be our only healthy child. I never would have thought that. And it is hilarious because before getting pregnant with Lua, I felt so so so uncertain if we would be the type of people who could have more than one child, I made the comment, well God if you really want us to have more kids then I would have to get pregnant soon or else we are closing the doors to that one! It wasn't but a few weeks later I found out I was pregnant with who would be Lua. So in my ignorance believed God couldn't possibly let it happen again and thinking he gave me Lua so that we could go on to have Sol. We loved Lua so much losing her was so hard, but we knew we wanted to have 2 kids after her. That was the reason for Lua, it had to be! So how does that explain this then? It is a punishment, has to be, there can be no other explanation.
Without sounding ungrateful, I'm already tired of explaining to people what is going on, they think it is no big deal, or they don't take me seriously how bad things could be. Or I hear, well it is Gods plan. It is SO easy to believe that when you have never had a struggle in life. Losing a job is the worst you have encountered and that probably was a blessing. I didn't think we made it look as easily as people think it was with Lua, and if we did, i'm really sorry but don't be naive like me, it was NOT easy. Loving her was Easy! taking care of her Was Not!!! Unless you enjoy being hooked up to a suction machine that is louder than thunder, all day long, pumping every 2 hours, measuring milk every 3 hours, monitoring stats all day long, sleeping close to none, I mean if all of this sounds easy to you, then Please switch lives with me and tell me what you think. You hear the term, but you are so strong... even something my husband says, oh you were so good with Lua... There isn't anything to be good at?! Most mothers would do the exact same thing I did! I did nothing different except for let the doctors walk all over me.. a great mom would have done what she knew was right! I was only the best I was because Lua made me be..But Yes, in a sense, we were strong and we will be "strong" again, not because we want to but because we have no choice in the matter. I don't want to feel sorry for myself for the next few months, but im struggling with trying to not do that. I truly feel so bad for this little boy, I never ever would have done this to him if I would have known.
My last thought is for the women who will go on to have healthy happy babies... when you have delivered your baby, and they put the child on your chest and you get to hold your baby, enjoy that moment for as long as you can. That was the best moment of my life when they put May on my chest, it was the one feeling I remembered when I was in labor with Lua that helped me get through it, I knew in a few hours I would get that sweet baby on my chest again. I didn't get that moment. I thought I would get it one last time with this baby, but chances are very slim. I envy you all who have gotten to experience that more than once, you are the lucky ones!
Here is the song to listen to and the lyrics (the more important part)
https://www.youtube.com/watch?v=VfIuJpdTDCU
It’s a really old city
Stuck between the dead and the living
So I thought to myself,
Sitting on a graveyard shelf
As the echo of heartbeats,
From the ground below my feet
Filled a cemetery
In the center of Queens
I started running the maze of
The names and the dates, some
Older than others the skyscrapers, little tombstone brothers
With Manhattan behind her, three million stunning reminders
Built a cemetery
In the center of Queens
You said, remember that life is
Not meant to be wasted
We can always be chasing the sun!
So fill up your lungs and just run
But always be chasing the sun!
So how do you do it,
With just words and just music,
Capture the feeling that my earth is somebody’s ceiling
Can I deliver in sound
The weight of the ground
Of a cemetery
In the center of Queens
There’s a history through her
Sent to us as a gift from the future
To show us the proof
More than that, it’s to dare us to move
And to open our eyes and to learn from the sky
From a cemetery
In the center of Queens
You said, remember that life is
Not meant to be wasted
We can always be chasing the sun!
So fill up your lungs and just run
But always be chasing the sun!
All we can do is try
And live like we’re still alive
It’s a really old city
Stuck between the dead and the living
So I thought to myself
Sitting on a graveyard shelf
And the gift of my heartbeat sounds like a symphony
Played by a cemetery
in the center of Queens
You said, remember that life is
Not meant to be wasted
We can always be chasing the sun!
So fill up your lungs and just run
But always be chasing the sun!
All we can do is try
And live like we’re still alive
All we can do is try
And live like we’re still alive
My heart aches for May the most. It is unbelievable that she will be our only healthy child. I never would have thought that. And it is hilarious because before getting pregnant with Lua, I felt so so so uncertain if we would be the type of people who could have more than one child, I made the comment, well God if you really want us to have more kids then I would have to get pregnant soon or else we are closing the doors to that one! It wasn't but a few weeks later I found out I was pregnant with who would be Lua. So in my ignorance believed God couldn't possibly let it happen again and thinking he gave me Lua so that we could go on to have Sol. We loved Lua so much losing her was so hard, but we knew we wanted to have 2 kids after her. That was the reason for Lua, it had to be! So how does that explain this then? It is a punishment, has to be, there can be no other explanation.
Without sounding ungrateful, I'm already tired of explaining to people what is going on, they think it is no big deal, or they don't take me seriously how bad things could be. Or I hear, well it is Gods plan. It is SO easy to believe that when you have never had a struggle in life. Losing a job is the worst you have encountered and that probably was a blessing. I didn't think we made it look as easily as people think it was with Lua, and if we did, i'm really sorry but don't be naive like me, it was NOT easy. Loving her was Easy! taking care of her Was Not!!! Unless you enjoy being hooked up to a suction machine that is louder than thunder, all day long, pumping every 2 hours, measuring milk every 3 hours, monitoring stats all day long, sleeping close to none, I mean if all of this sounds easy to you, then Please switch lives with me and tell me what you think. You hear the term, but you are so strong... even something my husband says, oh you were so good with Lua... There isn't anything to be good at?! Most mothers would do the exact same thing I did! I did nothing different except for let the doctors walk all over me.. a great mom would have done what she knew was right! I was only the best I was because Lua made me be..But Yes, in a sense, we were strong and we will be "strong" again, not because we want to but because we have no choice in the matter. I don't want to feel sorry for myself for the next few months, but im struggling with trying to not do that. I truly feel so bad for this little boy, I never ever would have done this to him if I would have known.
My last thought is for the women who will go on to have healthy happy babies... when you have delivered your baby, and they put the child on your chest and you get to hold your baby, enjoy that moment for as long as you can. That was the best moment of my life when they put May on my chest, it was the one feeling I remembered when I was in labor with Lua that helped me get through it, I knew in a few hours I would get that sweet baby on my chest again. I didn't get that moment. I thought I would get it one last time with this baby, but chances are very slim. I envy you all who have gotten to experience that more than once, you are the lucky ones!
Here is the song to listen to and the lyrics (the more important part)
https://www.youtube.com/watch?v=VfIuJpdTDCU
It’s a really old city
Stuck between the dead and the living
So I thought to myself,
Sitting on a graveyard shelf
As the echo of heartbeats,
From the ground below my feet
Filled a cemetery
In the center of Queens
I started running the maze of
The names and the dates, some
Older than others the skyscrapers, little tombstone brothers
With Manhattan behind her, three million stunning reminders
Built a cemetery
In the center of Queens
You said, remember that life is
Not meant to be wasted
We can always be chasing the sun!
So fill up your lungs and just run
But always be chasing the sun!
So how do you do it,
With just words and just music,
Capture the feeling that my earth is somebody’s ceiling
Can I deliver in sound
The weight of the ground
Of a cemetery
In the center of Queens
There’s a history through her
Sent to us as a gift from the future
To show us the proof
More than that, it’s to dare us to move
And to open our eyes and to learn from the sky
From a cemetery
In the center of Queens
You said, remember that life is
Not meant to be wasted
We can always be chasing the sun!
So fill up your lungs and just run
But always be chasing the sun!
All we can do is try
And live like we’re still alive
It’s a really old city
Stuck between the dead and the living
So I thought to myself
Sitting on a graveyard shelf
And the gift of my heartbeat sounds like a symphony
Played by a cemetery
in the center of Queens
You said, remember that life is
Not meant to be wasted
We can always be chasing the sun!
So fill up your lungs and just run
But always be chasing the sun!
All we can do is try
And live like we’re still alive
All we can do is try
And live like we’re still alive
bad news
well we have received the worst news possible. Our son has the same condition as Lua so we know we get to relive the nightmare all over again.
there aren't many other things to say at this point. Maybe later.
there aren't many other things to say at this point. Maybe later.
Tuesday, September 15, 2015
4k & gymnastics
Our oldest has been showing a lot of interest in wanting to learn to read... originally I had given up on sending her to a preschool type thing, I had looked into a few things when we first got to the new town but the option they gave me was way to far away. I didn't mind if she didn't go to anything, she just turned 4 unlike the kids who are all most likely turning 5 in the next few months, and since I don't work full time I don't have the huge need to send her off... also I lost my baby and I think it is okay if I want to keep my children that I do have home with me a little longer than most. But we found an opening at a place very close to where we live, like 3 mins away, and it is for only a couple hours 4 times a week, so we figured we would try it out, if she hates it I'll just pull her out and also we don't know what will happen January, if we are going to be spending time in the NICU I'm not going to go out of my way to try to figure out how to keep her in it and add to any extra stress. Anyway today was her first day! She was asking to go all morning long, she only starts at 12. I think she may have been a little nervous and I could not get her to eat, just nibbles here and there, and I was so nervous I couldn't eat!!! but the time came and we went! She started off very excited in the car, waited patiently while we finished paper work, but as soon as we got to the class room she started to get overwhelmed! I told her I would stay until she was ready, but she was getting a little worse the longer I stayed. So one of the teachers had her come give me a really big hug, she started sobbing!, and had to say good bye. I'm sure she cried for a little bit, but with all the other kids there the teacher said she did good. Towards the end of the day she started getting tired and asked when it would be time to go home. She was really anxious, and I got there a little early, she was all ready to go haha! She started balling as soon as she saw me, poor girl. But sounds like it wasn't terrible. I am hoping tomorrow will be easier for her. She did tell her daddy she was pretending to not cry all day because she really missed us... haha. So honest.
But what she does like! Is gymnastics!!! On short noticed we stopped in last week to see when it started and it happened to start that day, so we signed up and went! At first she was NOT happy about it because the lady while registering told her I had to go outside and wait for her, so she got really scared about that. When we got there, though, the parents get to sit in the room in the back, so that made her super happy then she couldn't wait! She did flips and hung on a bar and did an obstacle course. That was a blast, and it was the Best Story EVER! She had to call grandma, and grandpa and tell them all about it and how much fun it was! Tomorrow we have gymnastics again so hopefully that will make up for the 4k.
Aww why do they have to grow up so fast :(
But what she does like! Is gymnastics!!! On short noticed we stopped in last week to see when it started and it happened to start that day, so we signed up and went! At first she was NOT happy about it because the lady while registering told her I had to go outside and wait for her, so she got really scared about that. When we got there, though, the parents get to sit in the room in the back, so that made her super happy then she couldn't wait! She did flips and hung on a bar and did an obstacle course. That was a blast, and it was the Best Story EVER! She had to call grandma, and grandpa and tell them all about it and how much fun it was! Tomorrow we have gymnastics again so hopefully that will make up for the 4k.
Aww why do they have to grow up so fast :(
Sunday, September 13, 2015
ultrasounds
I enjoy the days when it was exciting to be going in for an ultrasound... But for us lately, ultrasound appointments are depressing. We leave feeling terrible, scared, depressed... Every bad emotion you can feel. I so badly ache for good news.
Everyday seems like a battle recently. There are so many things we need to consider.... We could be looking at our baby having the same issues Lua had, maybe it could be not as severe, or maybe he could be 100% healthy, but if he is, no one will believe it until he is born and tests have been done. This is not the pregnancy I was expecting. I guess I should have known it would be difficult compared to my last two because the ignorance of a healthy pregnancy has been stripped away from us, but I still didn't picture it being this hard.
This Thursday we have our next ultrasound, another very important ultrasound like the last one. It has come to be decided that if he is in the same position yet again, then he most likely has the same genetic issues Lua had. May be a different outcome, but we are still looking at a scary situation. With the diagnosis they are giving Lua, the doctors from Milwaukee want to say that Lua was so severe because of her birth trauma. They want to say this because that way it would explain her diagnosis better because her 'diagnosis' is suppose to be early child onset, luas was evident at birth so this helps them get away with saying she fits the profile, she just had a terrible start that caused a lot of movement damage. Originally we were told she recovered very well from her birth trauma she just had a very severe condition.... Whatever. So this time we can at least figure the best plan possible to cause the least amount of trauma done from the birth process.
It would be wonderful if this little guy could just start moving all over the place at this next ultra sound. I feel like I haven't heard good news from doctors in over two years and it really begins to take a toll on a person...
Everyday seems like a battle recently. There are so many things we need to consider.... We could be looking at our baby having the same issues Lua had, maybe it could be not as severe, or maybe he could be 100% healthy, but if he is, no one will believe it until he is born and tests have been done. This is not the pregnancy I was expecting. I guess I should have known it would be difficult compared to my last two because the ignorance of a healthy pregnancy has been stripped away from us, but I still didn't picture it being this hard.
This Thursday we have our next ultrasound, another very important ultrasound like the last one. It has come to be decided that if he is in the same position yet again, then he most likely has the same genetic issues Lua had. May be a different outcome, but we are still looking at a scary situation. With the diagnosis they are giving Lua, the doctors from Milwaukee want to say that Lua was so severe because of her birth trauma. They want to say this because that way it would explain her diagnosis better because her 'diagnosis' is suppose to be early child onset, luas was evident at birth so this helps them get away with saying she fits the profile, she just had a terrible start that caused a lot of movement damage. Originally we were told she recovered very well from her birth trauma she just had a very severe condition.... Whatever. So this time we can at least figure the best plan possible to cause the least amount of trauma done from the birth process.
It would be wonderful if this little guy could just start moving all over the place at this next ultra sound. I feel like I haven't heard good news from doctors in over two years and it really begins to take a toll on a person...
Wednesday, September 2, 2015
NICU family host
When we were in the NICU, we had a few people come talk with us about their experiences of being in the NICU and they were apart of a volunteering group trained to do this to help any families who are struggling with being in the NICU or if there were people who needed someone to talk to. I was kind of thrown off guard both times we had someone come talk to us, but lately thinking back, and especially when I hear of other people going to the nicu, I think how truly nice it was to have had those people stop by. The first one we met in Neenah children's, her baby was sent to Milwaukee as well and she gave us some awesome tips for when we got to Milwaukee. I should try to find her and thank her because she warned us on how the children's cafeteria was way worse than the hospital that was connected to children's cafeteria was, we saved a nice amount of money on that tip alone! And the second mother I met, it was just nice to have a break and someone extra to talk to. I spent my weeks mostly alone with lua while my husband worked and my mom watched may, so when she stopped in it was nice to have someone new to talk to. So lately I have been thinking about this program and asked our first nurse lua had, what all you had to do to be in the program. I was worried that I wouldn't qualify because Lua passed away, maybe I'd be too depressing to talk to people. Today I was able to talk to the coordinator and as unfortunate as my situation is, there is a need for those who have lost babies. So today I registered for the training to try to become a NICU family host and hopefully I can help other families in any way I can. The nicu will always hold a special place in my heart, we went through soooo much there, learned so much, met so many people, felt like we were there forever.... And I truly sympathize with families that have to go there with their babies. So I'm excited to be starting this up. The training will be in October, just after Lua has been gone for one year... Feels like the right time.
Tuesday, September 1, 2015
Limb Girdle Muscular Dystrophy 2Q
So the other day I wrote this Huge Long blog about finding diagnosis on Lua and everything that came with that... then at the end of it, I went to add a picture, and our fun no internet having to use our phone to use the laptop, froze up and when I refreshed it, the blog post did not save!!! So I gave up and figured that post was Not meant to happen!
Earlier this week we went to Milwaukee to have another ultrasound and some genetic counseling. We were waiting to hear if me and my husband were both carriers of the Limb Girdle Muscular Dystrophy 2Q, because before we found that out, it couldn’t be for sure that Lua had this condition. Well they said we both do have the change in each gene so that means when Lua was made she got a bad copy from mom and a bad copy from dad causing the protein that makes muscle to not form correctly causing her to have this type of muscular dystrophy, which those who know what muscular dystrophy is, it is a condition you continue to lose your muscle abilities. Now don’t quote me on my explanation of what happened with Lua and the protein theory, it is my basic understanding of what we were told. So, my issue with this, is that Lua was very severe, I know situations where babies are diagnosed with some type of muscular dystrophy, but they still have more usage of their body than Lua had. There are only 2.... 2! cases of her exact diagnosis recorded, and they are both from Turkey. And in those studies, the kids were normal until 4 years of age. The geneticists all say this is the only thing that makes sense for what Lua had, she fit the profile of the condition. Well muscle weakness fits A LOT of different diseases and that is the only thing Lua had in common with these two cases that were reported. They also lived in their 30s and had no respiratory issues. They had eye weakness, Lua did not have, and they were able to walk at normal age, Lua wouldn’t have been walking at 12 moths. So I guess my basic understanding of this means, They are calling it this disease until medicine has caught up and found another name for what she truly had, I think they should maybe change it to Congenital Limb Girdle Muscular Dystrophy 2Q type 0, would that be too long of a name? Type 0 means the most severe type and congenital means present at birth, I think if the name was changed to this I would agree but I suppose a name by any other name right? She must have been the most severe of this condition ever. I recently joined a LGMD group and talked to the members who have this condition, amazing people! But most have never heard of a baby like Lua with that disease. I don’t know why this diagnosis bothers me so much, it isnt like I would be happy if they said yeah we found it was SMA type 0, but hey at least that would make sense.
Here is the kicker and what probably bothers me the most... Since we are carriers of this bad gene, both of us... me from wisconsin, my husband from Sao Paulo Brasil, we will always have a 25% chance of passing it to any future children, or current baby, always. At our ultra sound little Mr. was of course not moving again!!! They have some concerns with his arms, jaw, and foot. Now while I support being positive and believing everything is fine with him, which it very well may be! I have my concerns!!! Thoughts of having to go through everything we went through with Lua all over again is a living nightmare, and I am stuck between deciding to either accept the worst, or deny the worst could happen. I have options though, and options are always great, right...
We can do the amino testing, you know the one where they stick the needle in your belly and get some of the fluid around the baby. This could give us our answers right now if he has it or doesn’t have it. Unfortunately, what will it change? Absolutely nothing except preparing us for worst case scenario. Delivery sounds like it will remain the same plan as if we didn’t know if he had it or not. And ultrasounds, keep doing ultrasounds every 4 weeks to check no him and watch for any signs that may give away him having the same condition or not. I don’t know about you, but I have refused an epidural each labor because the thought of that needle into my back scares me more than dying from pain... I can’t see a needle go into my stomach I am almost positive I will have a heart-attack if we went that way. Besides that, I don’t think I want to know. If they test him and he has the same change in the same gene Lua had, they confirm he will have the same condition as Lua, and he comes out healthy, Well Great! Thanks everyone for scaring the living crap out of me for the last 5 months!!! That is a very big possibility since I am not convinced they are even confident that this is the right diagnosis, if he is healthy and has the same change Lua had, it means we start all over with the diagnosis process...
I am waiting to talk to my normal doctor later this week, I think that may give us more ideas of how to feel or which action to take concerning delivery which I feel will give me a piece of mind. So we wait. And we will wait until the baby is born to know for sure if he will be healthy or not. At least we know that we will love him unconditionally no matter how healthy he is or isn’t... and also we will need to stop the baby making process!
This day of the ultrasound was one of the more difficult days we have had in awhile, because not only did we have to receive a crap load of news, but we had to go through a family history, My sweet dear uncle Ron passed away early that morning before the ultrasound, so it was definitely an annoying time to have to go through, well, everything... His funeral will be Thursday... we all miss him already.
Earlier this week we went to Milwaukee to have another ultrasound and some genetic counseling. We were waiting to hear if me and my husband were both carriers of the Limb Girdle Muscular Dystrophy 2Q, because before we found that out, it couldn’t be for sure that Lua had this condition. Well they said we both do have the change in each gene so that means when Lua was made she got a bad copy from mom and a bad copy from dad causing the protein that makes muscle to not form correctly causing her to have this type of muscular dystrophy, which those who know what muscular dystrophy is, it is a condition you continue to lose your muscle abilities. Now don’t quote me on my explanation of what happened with Lua and the protein theory, it is my basic understanding of what we were told. So, my issue with this, is that Lua was very severe, I know situations where babies are diagnosed with some type of muscular dystrophy, but they still have more usage of their body than Lua had. There are only 2.... 2! cases of her exact diagnosis recorded, and they are both from Turkey. And in those studies, the kids were normal until 4 years of age. The geneticists all say this is the only thing that makes sense for what Lua had, she fit the profile of the condition. Well muscle weakness fits A LOT of different diseases and that is the only thing Lua had in common with these two cases that were reported. They also lived in their 30s and had no respiratory issues. They had eye weakness, Lua did not have, and they were able to walk at normal age, Lua wouldn’t have been walking at 12 moths. So I guess my basic understanding of this means, They are calling it this disease until medicine has caught up and found another name for what she truly had, I think they should maybe change it to Congenital Limb Girdle Muscular Dystrophy 2Q type 0, would that be too long of a name? Type 0 means the most severe type and congenital means present at birth, I think if the name was changed to this I would agree but I suppose a name by any other name right? She must have been the most severe of this condition ever. I recently joined a LGMD group and talked to the members who have this condition, amazing people! But most have never heard of a baby like Lua with that disease. I don’t know why this diagnosis bothers me so much, it isnt like I would be happy if they said yeah we found it was SMA type 0, but hey at least that would make sense.
Here is the kicker and what probably bothers me the most... Since we are carriers of this bad gene, both of us... me from wisconsin, my husband from Sao Paulo Brasil, we will always have a 25% chance of passing it to any future children, or current baby, always. At our ultra sound little Mr. was of course not moving again!!! They have some concerns with his arms, jaw, and foot. Now while I support being positive and believing everything is fine with him, which it very well may be! I have my concerns!!! Thoughts of having to go through everything we went through with Lua all over again is a living nightmare, and I am stuck between deciding to either accept the worst, or deny the worst could happen. I have options though, and options are always great, right...
We can do the amino testing, you know the one where they stick the needle in your belly and get some of the fluid around the baby. This could give us our answers right now if he has it or doesn’t have it. Unfortunately, what will it change? Absolutely nothing except preparing us for worst case scenario. Delivery sounds like it will remain the same plan as if we didn’t know if he had it or not. And ultrasounds, keep doing ultrasounds every 4 weeks to check no him and watch for any signs that may give away him having the same condition or not. I don’t know about you, but I have refused an epidural each labor because the thought of that needle into my back scares me more than dying from pain... I can’t see a needle go into my stomach I am almost positive I will have a heart-attack if we went that way. Besides that, I don’t think I want to know. If they test him and he has the same change in the same gene Lua had, they confirm he will have the same condition as Lua, and he comes out healthy, Well Great! Thanks everyone for scaring the living crap out of me for the last 5 months!!! That is a very big possibility since I am not convinced they are even confident that this is the right diagnosis, if he is healthy and has the same change Lua had, it means we start all over with the diagnosis process...
I am waiting to talk to my normal doctor later this week, I think that may give us more ideas of how to feel or which action to take concerning delivery which I feel will give me a piece of mind. So we wait. And we will wait until the baby is born to know for sure if he will be healthy or not. At least we know that we will love him unconditionally no matter how healthy he is or isn’t... and also we will need to stop the baby making process!
This day of the ultrasound was one of the more difficult days we have had in awhile, because not only did we have to receive a crap load of news, but we had to go through a family history, My sweet dear uncle Ron passed away early that morning before the ultrasound, so it was definitely an annoying time to have to go through, well, everything... His funeral will be Thursday... we all miss him already.
Little Mr.
My Aunt Jill, Uncle Ron with Lua
A few of my Awesome Uncles, our ushers at our wedding... they really rocked it!
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