This coming week is going to be a full one, with lots of big appointments and also the usual fanfare thrown in for good measure.
To update, Loie has indeed been discharged from her home health care nurse :( Sad face, only because we love Sami and will miss her boisterous personality coming through our door, giving us helpful advice, smiles, and always confident hope! Thank you Sami for seeing us through the rough transition from NICU to home. You have been our training wheels so to speak, and you are not just a nurse, but you are a mom who "gets it" too. I can't believe it has been six months since we took Loie home from the hospital....
Loie weighs exactly 13 pounds now, as of her latest appointment. She had a brief time where she was teetering and even lost a little bit of weight, because we've all been hit hard with autumn-time illnesses. Poor Lennon woke up one night, on FIRE with a 104 degree fever-turns out was caused by strep throat. :( Loie developed a rattly chest cough and congestion, and Justin and I have been hit with everything else imaginable. Is this some horrifying flu? I'm not sure, but we would very much like for it to leave us alone now, please and thank you.... I am still hacking my lungs out while I type this. Loie is doing much better, and Lennon is too, although he now has the hacking cough as well. Strep throat is no Bueno for a 2 year old. He lost weight too and we knew something was very wrong when our non-stop little boy who NEVER sits still, only wanted to lie in bed and watch sesame street.
Anywho, we seem to be on the mend, but it was sketchy.
Loie had her big genetics appointment the other day. I wasn't sure what to expect for this one. I had many questions, but was open to see what they had planned for us. Basically they took (another) detailed family history, then the doctor came in, looked at Loie's development and her head size, and physical features etc and made some determinations. She has mostly ruled out Beckwith Wiedemann syndrome. I say mostly only because it cannot be definitively ruled out, only just put in the "no longer likely" pile. Seems she has grown into her tongue since we last saw the doc! She also does not believe that Loie has Donnai Barrow syndrome, although it is still in the "ehhhhh maybe...." pile. This is a pretty rare disorder, and Loie has some features which combined with her heart defect, puts that into the maybe pile? But it is a low ranking maybe. She and Pearl, I guess have a number of features which are frequently indicative of genetic syndromes, such as epicanthal folds on her eyelids, kind of low set pinnae (ears) and wide round eyes, and combined with the fact that they both have/had congenital heart defects, and with Pearl having an omphalocele, that is what raised the genetic red flags. Yes, they had genetic testing done, and yes we know that they are missing part of Chromosome 7, but it is not a known "syndrome." It is a very rare deletion, but it is something that I have passed on to them. Yay for me. Initially, they told us that the few other affected families all have experienced microcephaly, hypotonia, and intellectual disability. So initially, this is what we were gearing up for. Then we found out that I passed on this same deletion, and I don't have these problems..... So, it is anyone's guess now. Is it possible that I carry the same gene but am not affected by it? yes. Is it possible that when passed on to my children they will have the same gene but they will be affected by it? yes. No one knows for sure. Now here's the super fun part!!! the things they told us are possible for her - microcephaly, hypotonia, intellectual disability - we will watch for. BUT. Guess what? The things that are possible due to Loie's brain injury? - microcephaly, hypotonia and intellectual disability. (among others.) So, even if she does have some of these troubles, will we ever know if it is because of the genes or because of the brain injury? nope. Because we don't have her twin sister to compare to. Womp womp. I hate unanswerable questions. It is what it is though.
Oh, and it is a 50/50 chance that Lennon has the same gene too.
Genetics is a pretty cool thing to study and get into. But, it is tricky and there is a lot we don't know. In the end, does it really matter? No, because we will still proceed with Loie's care the same way, and we will love her just the same.
Lennon is continuing to do really well! The other day he picked up a bottle of hand sanitizer, held it up to his ear like he was taking an important business call, and said "hewo? o tay. Bye." I laughed so hard. This kid cracks me up. I know it is one of those things that probably most toddlers do at some point, but for us to see him do that, is a big deal and it is just too cute. He will also give kisses now (usually) and thinks it's pretty funny. He LOVES to count, and he will count all day long. Up to 10 now, then after ten comes twevv and aaaaaaaate teen. He also loves to say "No." and "Now." ahh, the best words ever. I've been trying to get him to take more notice of Loie and have been placing her near him while he plays, so she can watch him, and so he can get used to her being in his space. He mostly is good about it, and will sometimes touch her hair, or tickle her little toes before he moves on to something more exciting. I really hope they get along and are good friends. Loie just adores her big brother, and will watch him play all day long! We have the sweetest kids in the world.
Up next is another Neurology check up, and then Cardiology. I have many many questions for Cardiology.... :) 'Til next time.
To update, Loie has indeed been discharged from her home health care nurse :( Sad face, only because we love Sami and will miss her boisterous personality coming through our door, giving us helpful advice, smiles, and always confident hope! Thank you Sami for seeing us through the rough transition from NICU to home. You have been our training wheels so to speak, and you are not just a nurse, but you are a mom who "gets it" too. I can't believe it has been six months since we took Loie home from the hospital....
Loie weighs exactly 13 pounds now, as of her latest appointment. She had a brief time where she was teetering and even lost a little bit of weight, because we've all been hit hard with autumn-time illnesses. Poor Lennon woke up one night, on FIRE with a 104 degree fever-turns out was caused by strep throat. :( Loie developed a rattly chest cough and congestion, and Justin and I have been hit with everything else imaginable. Is this some horrifying flu? I'm not sure, but we would very much like for it to leave us alone now, please and thank you.... I am still hacking my lungs out while I type this. Loie is doing much better, and Lennon is too, although he now has the hacking cough as well. Strep throat is no Bueno for a 2 year old. He lost weight too and we knew something was very wrong when our non-stop little boy who NEVER sits still, only wanted to lie in bed and watch sesame street.
Anywho, we seem to be on the mend, but it was sketchy.
Loie had her big genetics appointment the other day. I wasn't sure what to expect for this one. I had many questions, but was open to see what they had planned for us. Basically they took (another) detailed family history, then the doctor came in, looked at Loie's development and her head size, and physical features etc and made some determinations. She has mostly ruled out Beckwith Wiedemann syndrome. I say mostly only because it cannot be definitively ruled out, only just put in the "no longer likely" pile. Seems she has grown into her tongue since we last saw the doc! She also does not believe that Loie has Donnai Barrow syndrome, although it is still in the "ehhhhh maybe...." pile. This is a pretty rare disorder, and Loie has some features which combined with her heart defect, puts that into the maybe pile? But it is a low ranking maybe. She and Pearl, I guess have a number of features which are frequently indicative of genetic syndromes, such as epicanthal folds on her eyelids, kind of low set pinnae (ears) and wide round eyes, and combined with the fact that they both have/had congenital heart defects, and with Pearl having an omphalocele, that is what raised the genetic red flags. Yes, they had genetic testing done, and yes we know that they are missing part of Chromosome 7, but it is not a known "syndrome." It is a very rare deletion, but it is something that I have passed on to them. Yay for me. Initially, they told us that the few other affected families all have experienced microcephaly, hypotonia, and intellectual disability. So initially, this is what we were gearing up for. Then we found out that I passed on this same deletion, and I don't have these problems..... So, it is anyone's guess now. Is it possible that I carry the same gene but am not affected by it? yes. Is it possible that when passed on to my children they will have the same gene but they will be affected by it? yes. No one knows for sure. Now here's the super fun part!!! the things they told us are possible for her - microcephaly, hypotonia, intellectual disability - we will watch for. BUT. Guess what? The things that are possible due to Loie's brain injury? - microcephaly, hypotonia and intellectual disability. (among others.) So, even if she does have some of these troubles, will we ever know if it is because of the genes or because of the brain injury? nope. Because we don't have her twin sister to compare to. Womp womp. I hate unanswerable questions. It is what it is though.
Oh, and it is a 50/50 chance that Lennon has the same gene too.
Genetics is a pretty cool thing to study and get into. But, it is tricky and there is a lot we don't know. In the end, does it really matter? No, because we will still proceed with Loie's care the same way, and we will love her just the same.
Lennon is continuing to do really well! The other day he picked up a bottle of hand sanitizer, held it up to his ear like he was taking an important business call, and said "hewo? o tay. Bye." I laughed so hard. This kid cracks me up. I know it is one of those things that probably most toddlers do at some point, but for us to see him do that, is a big deal and it is just too cute. He will also give kisses now (usually) and thinks it's pretty funny. He LOVES to count, and he will count all day long. Up to 10 now, then after ten comes twevv and aaaaaaaate teen. He also loves to say "No." and "Now." ahh, the best words ever. I've been trying to get him to take more notice of Loie and have been placing her near him while he plays, so she can watch him, and so he can get used to her being in his space. He mostly is good about it, and will sometimes touch her hair, or tickle her little toes before he moves on to something more exciting. I really hope they get along and are good friends. Loie just adores her big brother, and will watch him play all day long! We have the sweetest kids in the world.
Up next is another Neurology check up, and then Cardiology. I have many many questions for Cardiology.... :) 'Til next time.
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