Sunday, June 29, 2008
An Adventurous Trip
We are still here in Florida...having a good time in the condo...storming outside! We had a great time yesterday at the beach and the pool...the weather was great! The adventure started with our trip here...I think we are the first family to take 15 hours to get from Baton Rouge to Florida. Here's the story...we took our time...stopping to eat, shop a little...stop again to feed Lydia...THEN...we noticed that Lydia had a little vaginal discharge when we changed her diaper...and I remembered that I had seen a little that morning too. I called the Baton Rouge Clinic to get advice about it because that is how her first urinary tract infection started. Dr Ramey suggested that we should take her to some after-hours clinic or something...he said that with her mito diagnosis...we shouldn't chance it. We went to a children's hospital in Mobile...we waited and waited and waited! And, just as we thought. She did have a UTI. We got a prescription for an antibiotic and proceeded to head to the beach. We arrived at the condo at about 2:30 am. It was quite a trip! We were all very tired....and disappointed that we didn't get here sooner, but we were glad that we checked it out. We just can't chance anything with her now. Her appetite was a little decreased yesterday, but she seems to be eating well today. No fever...and she seems happy. We'll head home tomorrow...please pray that this storm blows over...it is getting pretty bad.
Friday, June 27, 2008
Good News
We saw the cardiologist this morning, and he said that Lydia's heart looks perfectly normal....structure and function. Yeah! They did an EKG and an ultrasound of her heart, and both were normal. He wants to follow her periodically to be sure that it continues to be healthy. We will see him again in a year.
A bit of not-so-good news:
Lydia had another seizure Wednesday night. Her heart-breaking cry afterwards lasted 20 minutes. I talked to Dr Hollman about it, and she said that she is not concerned about the seizure right now because she is still not up to her full dose of the seizure medication. We are on the second increment right now...she said that if Lydia has a seizure after she is on the full dose for at least a week...we should let her know.
Now...we're off to the beach!!!!
A bit of not-so-good news:
Lydia had another seizure Wednesday night. Her heart-breaking cry afterwards lasted 20 minutes. I talked to Dr Hollman about it, and she said that she is not concerned about the seizure right now because she is still not up to her full dose of the seizure medication. We are on the second increment right now...she said that if Lydia has a seizure after she is on the full dose for at least a week...we should let her know.
Now...we're off to the beach!!!!
Tuesday, June 24, 2008
The Latest...
I'm sorry it has been so long since I've updated...we have been crazy busy lately!! I am keeping a log of all of the phone calls that I have to make on a daily basis with each response I get...I don't trust my brain to keep it all....doctors, insurance companies, etc. I'll try to re-cap some of the info from the last several days:
Phone conversation with Dr Alberty (GI):
Martin and I decided to move forward with plans for the G-tube. I called Dr Hollman Monday morning and told her not to worry about coordinating with Lydia's other dr's...we feel like it is the right call. After looking over Lydia's notes from the last month, I realized that she has not gained a single ounce since June 1st. That hit home. That coupled with the medicine struggle made the decision pretty clear this time. So.....I called Dr Alberty Monday morning...he agreed that it was the best idea. He said that in dealing with mito patients, nutrition is often a concern....he said that we want to maximize her brain function and functions of all her cells, so we want to take nutrition out of the equation. We want to be sure that we are doing everything in that regard to give her the best life possible. He also said that mito patients need more calories in order to gain weight than typical kids. That explains why she has not gained in the last few weeks even though she has still been eating well (until recently, anyway). So, the plan is to get the G-tube and then schedule an appt with him to discuss the plan for nutrition. We will probably do night-feeds, which means that she will eat as usual during the day...then, at night we will hook her up to a machine to supplement feeding while she sleeps. That way, we won't supress her hunger during the day, and she will still eat as she usually does.
I called to schedule an appt with the surgeon, but I need to follow-up on that tomorrow. I wanted to schedule an appt for Lydia and Elise together....Elise has a little skin tag on her bottom that we saw a surgeon about several months ago...he wanted us to come back in a few months. Well, another surgeon was highly recommended by a couple of friends so I wanted to switch. The receptionist said that they had to ok it with the first surgeon before they could schedule the appt....still waiting to hear back from them.
I was a little worried about Lydia today because she seemed to be more tired than usual...maybe even a little lethargic. We'll keep a close eye on it, but I think it is because we just started the second round of upping the Keppra (seizure med) last night. She is now at 1 ml twice a day...next week, she goes up to 1.5 ml twice a day and that is what she will take from then on out. Both Susan and our Blue Cross Nurse Case Manager told me that it takes about 2-3 weeks for kids to get accustomed to taking a seizure med and that it is perfectly normal for her to be a little less alert. Susan said that it is because it relaxes the central nervous system...makes sense. We've noticed in the past week that she doesn't smile quite as much and seems a little more "out of it." Hopefully after her body gets used to the med, we will see her get back to normal. Tonight seems better though....she is vocalizing a lot and seemed to be "playing" with Elise earlier. She is really responding better to her lately. They have a little bond now.
NO SEIZURES since the three last Monday!!!!!!
Pushing up her upper body while on her belly seems to be getting easier and easier! You wouldn't believe it...I'll have catch a shot of it. She gets her head way up in the air and she does it all by herself...without me putting her up on her hands. That is great news!!! Any progress is encouraging! She has her own little cheering section here too...it's fun! If Martin, Audrey or I see her doing it, we yell at each other to come see, and we all cheer her on. Even Elise will point at her and laugh and say, "Yiya." That's "Eliseeze" for Lydia. Our newest trick is to put her on her belly on one of our small throw pillows on our bed....she'll lean to one side and accidentally roll (or fall) to her back....we all cheer and she smiles every time. We figure that if she feels that motion enough, she'll feel confident enough to do it on her own on a flat surface. We'll keep trying!
Lydia has also been doing a much better job of prop-sitting...resting her hands on her legs and sitting up. I usually have her do it in my lap....last night we counted 46 seconds!!!! That's big!!!
Susan and I talked yesterday about Dr Hollman's prediction about not talking or walking. She agreed that most kids she has seen with myopathy do not talk. (Lydia has encephalomyopathy...which basically means brain and muscle weakness.) But, she said that she has had success with some kids in a walker. She had one patient that started in a walker at 18 month....he didn't have the balance reaction to walk alone....and he still walks with the walker at 7 years old, but he gets himself around pretty good. We will consider that a possible option for Lydia. She noticed that she does move her feet alternatively when you stroke the tops of her feet, so that is encouraging. It may be a pre-cursor to crawling and/or walking.
Lydia has an appt with a pediatric cardiologist Thursday afternoon...Dr. Crapazano. Please pray that we get good news.
I will be working the next couple of days...and we leave for a much needed vacation on Friday! Big Thanks to Ms Hilda for taking us to the beach!!! Yeah! We'll be hanging out with the Poche family for the weekend. So....I expect to update again early next week.
Phone conversation with Dr Alberty (GI):
Martin and I decided to move forward with plans for the G-tube. I called Dr Hollman Monday morning and told her not to worry about coordinating with Lydia's other dr's...we feel like it is the right call. After looking over Lydia's notes from the last month, I realized that she has not gained a single ounce since June 1st. That hit home. That coupled with the medicine struggle made the decision pretty clear this time. So.....I called Dr Alberty Monday morning...he agreed that it was the best idea. He said that in dealing with mito patients, nutrition is often a concern....he said that we want to maximize her brain function and functions of all her cells, so we want to take nutrition out of the equation. We want to be sure that we are doing everything in that regard to give her the best life possible. He also said that mito patients need more calories in order to gain weight than typical kids. That explains why she has not gained in the last few weeks even though she has still been eating well (until recently, anyway). So, the plan is to get the G-tube and then schedule an appt with him to discuss the plan for nutrition. We will probably do night-feeds, which means that she will eat as usual during the day...then, at night we will hook her up to a machine to supplement feeding while she sleeps. That way, we won't supress her hunger during the day, and she will still eat as she usually does.
I called to schedule an appt with the surgeon, but I need to follow-up on that tomorrow. I wanted to schedule an appt for Lydia and Elise together....Elise has a little skin tag on her bottom that we saw a surgeon about several months ago...he wanted us to come back in a few months. Well, another surgeon was highly recommended by a couple of friends so I wanted to switch. The receptionist said that they had to ok it with the first surgeon before they could schedule the appt....still waiting to hear back from them.
I was a little worried about Lydia today because she seemed to be more tired than usual...maybe even a little lethargic. We'll keep a close eye on it, but I think it is because we just started the second round of upping the Keppra (seizure med) last night. She is now at 1 ml twice a day...next week, she goes up to 1.5 ml twice a day and that is what she will take from then on out. Both Susan and our Blue Cross Nurse Case Manager told me that it takes about 2-3 weeks for kids to get accustomed to taking a seizure med and that it is perfectly normal for her to be a little less alert. Susan said that it is because it relaxes the central nervous system...makes sense. We've noticed in the past week that she doesn't smile quite as much and seems a little more "out of it." Hopefully after her body gets used to the med, we will see her get back to normal. Tonight seems better though....she is vocalizing a lot and seemed to be "playing" with Elise earlier. She is really responding better to her lately. They have a little bond now.
NO SEIZURES since the three last Monday!!!!!!
Pushing up her upper body while on her belly seems to be getting easier and easier! You wouldn't believe it...I'll have catch a shot of it. She gets her head way up in the air and she does it all by herself...without me putting her up on her hands. That is great news!!! Any progress is encouraging! She has her own little cheering section here too...it's fun! If Martin, Audrey or I see her doing it, we yell at each other to come see, and we all cheer her on. Even Elise will point at her and laugh and say, "Yiya." That's "Eliseeze" for Lydia. Our newest trick is to put her on her belly on one of our small throw pillows on our bed....she'll lean to one side and accidentally roll (or fall) to her back....we all cheer and she smiles every time. We figure that if she feels that motion enough, she'll feel confident enough to do it on her own on a flat surface. We'll keep trying!
Lydia has also been doing a much better job of prop-sitting...resting her hands on her legs and sitting up. I usually have her do it in my lap....last night we counted 46 seconds!!!! That's big!!!
Susan and I talked yesterday about Dr Hollman's prediction about not talking or walking. She agreed that most kids she has seen with myopathy do not talk. (Lydia has encephalomyopathy...which basically means brain and muscle weakness.) But, she said that she has had success with some kids in a walker. She had one patient that started in a walker at 18 month....he didn't have the balance reaction to walk alone....and he still walks with the walker at 7 years old, but he gets himself around pretty good. We will consider that a possible option for Lydia. She noticed that she does move her feet alternatively when you stroke the tops of her feet, so that is encouraging. It may be a pre-cursor to crawling and/or walking.
Lydia has an appt with a pediatric cardiologist Thursday afternoon...Dr. Crapazano. Please pray that we get good news.
I will be working the next couple of days...and we leave for a much needed vacation on Friday! Big Thanks to Ms Hilda for taking us to the beach!!! Yeah! We'll be hanging out with the Poche family for the weekend. So....I expect to update again early next week.
Thursday, June 19, 2008
More News
I've been doing more and more research, little by little to learn more about Lydia's disorder...I don't like feeling lacking in knowledge. We are so lucky to have Dr Hollman. Although she has seen this rare disorder few times, she is so committed to helping us...she is making lots of phone calls to be sure that we are giving Lydia the best care. She called tonight to discuss some questions that I had. She gave a little more info as far as prognosis than Dr Superneau was willing to predict. She was very honest...which meant realistically negative. She said that based on Lydia's limited progress so far developmentally, she would predict that she will probably never walk or talk. She said that if Lydia is not walking by 7 or 8 years old, we can assume that she never will...the same is true of talking...if she is not saying much by age 7, we can assume that she probably never will. We both agreed that this prediction is not a reason to ever stop trying. She said that we should continue therapy and continue praying because God might grant us a little miracle....we know that He has given us reason to believe in His miracles. As far as life expectancy, she left that more open-ended. She said that Lydia may very well live a long happy life....or she might have an early death. There is no way to know that right now. Dr Superneau had explained to us yesterday that any illness could be serious and possibly life-threatening for her. For example, if she were to contract pneumonia, she would be at a higher risk for serious complications because her body does not have the ability to cough vigorously or to roll over to a more comfortable position or to sit up to avoid stuff settling in her lungs. Basically, this means that we have to take extra precautions so that she does not get sick. Even minor illnesses to typical children could send her to the doctor or hospital. Recommendations have been to avoid any person who might have any type of illness.
Dr Hollman is going to call Dr Wood and Dr Alberty to discuss with them the decision of pursuing the G-tube. I like the idea of all of her doctors talking together about it so that we can make an informed decision. We talked tonight about the importance of staying hydrated and well-nourished...we all know how Lydia refuses to eat when she is sick or has some type of distress going on. What I'm learning is that the fasting could lead to metabolic stress, which (from what I understand) means that her cells have difficulty functioning because they are not getting what they need...especially since the energy source (the mitochondria) are not doing their jobs. Dr Superneau also told us yesterday that her brain and muscles are most affected because they are the systems that require the most energy.
Dr Hollman is also going to call Dr Shoffner to gather more info to share with us. Dr Shoffner's practice is not to speak with families over the phone...and he is actually not making follow-up appts anymore either...he only speaks with physicians to make recommendations...he is so busy with the lab and diagnostics.
More sites that I found helpful today:
http://www.umdf.org/atf/cf/{28038C4C-02EE-4AD0-9DB5-D23E9D9F4D45}/Mitochondria-An_Overview.pdf
(An article that provides an overview of Mitochondria and how they work... and don't work)
http://www.boston.com/partners/worldnow/necn.html?catID=85603&clipid=1022185&autoStart=true&mute=false&continuous=true
(a news clip that overviews mitochondrial disorder...a family story and an interview with a doctor)
About Elise....
Dr Shoffner said in March that he felt it very likely that Lydia and Elise's conditions were related. He is now awaiting ok from our insurance company to begin further testing of Lydia's cells....DNA sequencing to determine how Lydia inherited the condition...which may shed light on affects to others in our family. Dr Superneau, on the other hand, believes that Lydia and Elise's condition are two entirely different entities. The reason: Elise has some different facial features which are considered dysmorphisms...which means different (not abnormal or "sticking out in a crowd")...just different from our family...small, spaced teeth, large forehead, bridge between her eyes, spaced eyes, inward turned toes....this makes Dr Superneau think that her condition may be chromosomal. His thoughts are this: If Lydia and Elise have the same condition, and Lydia's condition is more severe, then she should have more severe dysmorphisms...but, Lydia does not have any dysmorphisms....so, he thinks their conditions are unrelated. Our next plan for her is to do a chromosomal micro-array (sp?) to further test for chromosomal syndromes. She has been tested for different syndromes in the past and all have been normal, but this test is a new advancement in medicine, so it won't hurt to test her just in case...it is a simple blood test.
That is all for now....my brain has much more than this...it comes back to me in bits and pieces...I will try to share as it comes. Thank you all so much for your prayers and concern and your notes of love and prayers. Please know that it all touches my heart and the lives of all of us!
Dr Hollman is going to call Dr Wood and Dr Alberty to discuss with them the decision of pursuing the G-tube. I like the idea of all of her doctors talking together about it so that we can make an informed decision. We talked tonight about the importance of staying hydrated and well-nourished...we all know how Lydia refuses to eat when she is sick or has some type of distress going on. What I'm learning is that the fasting could lead to metabolic stress, which (from what I understand) means that her cells have difficulty functioning because they are not getting what they need...especially since the energy source (the mitochondria) are not doing their jobs. Dr Superneau also told us yesterday that her brain and muscles are most affected because they are the systems that require the most energy.
Dr Hollman is also going to call Dr Shoffner to gather more info to share with us. Dr Shoffner's practice is not to speak with families over the phone...and he is actually not making follow-up appts anymore either...he only speaks with physicians to make recommendations...he is so busy with the lab and diagnostics.
More sites that I found helpful today:
http://www.umdf.org/atf/cf/{28038C4C-02EE-4AD0-9DB5-D23E9D9F4D45}/Mitochondria-An_Overview.pdf
(An article that provides an overview of Mitochondria and how they work... and don't work)
http://www.boston.com/partners/worldnow/necn.html?catID=85603&clipid=1022185&autoStart=true&mute=false&continuous=true
(a news clip that overviews mitochondrial disorder...a family story and an interview with a doctor)
About Elise....
Dr Shoffner said in March that he felt it very likely that Lydia and Elise's conditions were related. He is now awaiting ok from our insurance company to begin further testing of Lydia's cells....DNA sequencing to determine how Lydia inherited the condition...which may shed light on affects to others in our family. Dr Superneau, on the other hand, believes that Lydia and Elise's condition are two entirely different entities. The reason: Elise has some different facial features which are considered dysmorphisms...which means different (not abnormal or "sticking out in a crowd")...just different from our family...small, spaced teeth, large forehead, bridge between her eyes, spaced eyes, inward turned toes....this makes Dr Superneau think that her condition may be chromosomal. His thoughts are this: If Lydia and Elise have the same condition, and Lydia's condition is more severe, then she should have more severe dysmorphisms...but, Lydia does not have any dysmorphisms....so, he thinks their conditions are unrelated. Our next plan for her is to do a chromosomal micro-array (sp?) to further test for chromosomal syndromes. She has been tested for different syndromes in the past and all have been normal, but this test is a new advancement in medicine, so it won't hurt to test her just in case...it is a simple blood test.
That is all for now....my brain has much more than this...it comes back to me in bits and pieces...I will try to share as it comes. Thank you all so much for your prayers and concern and your notes of love and prayers. Please know that it all touches my heart and the lives of all of us!
Wednesday, June 18, 2008
Treatment Plan
We met with Dr Superneau this morning, and received a lot of information....most of which I can probably not explain, understand, or even remember...lots of biochemistry. To further understand what mitochondrial disorders are, visit Dr Shoffner's site: http://www.medicalneurogenetics.com/ He has a portal for patients that has some helpful info and some great links. United Mitochondrial Disease Foundation (http://www.umdf.org/) has great information. I've also been in contact with an extrordinary mother of a child with mito disorder...she has a great website for him at http://www.judesmitojourney.com/ Hopefully, these resources will help you and me to understand the disorder better. For specifics about Lydia's disorder, here is a picture of the conclusions page of her diagnosis report:
We didn't get much info from Dr Superneau today about expectations for Lydia's future....basically, the disorder is rare and her specific affected areas (Complex I and III) are even more rare so that there is no baseline or "typical" mito kid. We can't predict her future because every mito patient is different. We basically just have to wait and see how she develops and if she will become stagnant at any certain age or regress at any certain age or continue to progress....there is no way of knowing right now. As for now, we will continue to pray, attend therapy, see all of her current doctors plus a cardiologist to be sure that her heart is not affected, and to begin supplemental vitamins/medicines. She will begin taking CoQ10 and LCarnitine as soon as we can get them ordered. After being on these for 2-3 months, she will have a blood test to determine how it is being absorbed by her body,and then we will probably add creatine to her medicine cocktail.
My mind is a bit of a whirlwind right now...having trouble gathering and completing thoughts. I'll try to add more info as it comes to me. As always, thank you for continued prayers.
Tuesday, June 17, 2008
Seizures
Last night was difficult...Lydia had two seperate seizures and cried for a while in between...she was clearly very uncomfortable. I called Dr Hollman about it today. She said that the crying and limb-shaking was probably post-seizure activity. She said, "It just makes her feel bad." NO SEIZURES TODAY!!! She seemed mostly back to herself...though she slept a little more than usual...which is already a lot. I also talked to Dr Hollman about the possibility of discussing a feeding tube again...if only for the reason of medication. She now takes 5 doses of medication today...for thyroid, reflux, and seizures. She will probably add at least 2 new meds with the mito diagnosis. Medications by mouth are not a fun thing for Lydia...she usually gags, gasps, chokes, etc. Martin and I agree that a feeding tube would make that much easier, not to mention that we could also supplement her nutrition. Dr Hollman agreed that it was reasonable. She said that she didn't consider it inevitable (which would make the decision much easier), but she said that she would support the decision if we were comfortable with it. We'll add that to our list of questions for Dr Superneau tomorrow and follow-up with Dr Alberty and a surgeon if we decide to move forward with it.
Our appt with Dr Superneau is at 8:00...I'll try to post an update by the afternoon. Thanks for keeping us in your thoughts.
Our appt with Dr Superneau is at 8:00...I'll try to post an update by the afternoon. Thanks for keeping us in your thoughts.
Monday, June 16, 2008
A Diagnosis
Positive for Mitochondrial Disorder
Negative for Rett Syndrome
We had an appt scheduled with Dr Hollman this morning after therapy. She did not have the results yet when we went to see her. We discussed some little episodes that Lydia had been having in the last couple of weeks...leg jerks, loud yells that are not characteristic of her cry (and for no apparent reason)...then, this morning she had what Martin and I were pretty sure was a seizure. I was holding her....her whole body started to tremble, and she had a frightened look in her eyes, and she let out a couple of short loud cries (about 10-15 seconds altogether). Dr Hollman determined that all of those little episodes were probably seizures, so she decided to put her on a seizure medication...Keppra. She will take it twice a day and we will start with a small dose and increase gradually to a full dose (1.5 ml). Lydia's head growth continued to slow down...it fell even more off the chart this visit. Dr Hollman was very concerned with her lack of development...though she was glad that she has shown some progress...she picked her head up for her while we were there.
About 30 minutes ago (at about 3:00), Dr Hollman called us because they just received a fax of the results from Atlanta. We were both relieved that it was not Rett. She said that she didn't have a chance to really look into the report in depth...she wanted to call me right away. There was no specific name for the mitochondrial disorder that she saw. She listed a few of the symptoms...some big words that were Greek to me....I figured we'd get more info about it when we meet with Dr Superneau. I asked her where it fell on the spectrum...she said, "severe." I asked her if it all added up to her..with what she knows about Lydia's symptoms....she said, "it makes perfect sense." She wants us to see Dr Superneau to discuss the report in depth and then follow-up with her by phone. She wants us to continue the plan for the Keppra and to add another medication for Lydia, but she wants to get together with Dr Superneau first so that they can discuss it.
We have an appt Wednesday morning with Dr Superneau to discuss the report and expected outcome. After we meet with him, we will decide if we want to make another appt with Dr Shoffner in Atlanta for further clarification.
Thank you for keeping us all in your thoughts and prayers.
Negative for Rett Syndrome
We had an appt scheduled with Dr Hollman this morning after therapy. She did not have the results yet when we went to see her. We discussed some little episodes that Lydia had been having in the last couple of weeks...leg jerks, loud yells that are not characteristic of her cry (and for no apparent reason)...then, this morning she had what Martin and I were pretty sure was a seizure. I was holding her....her whole body started to tremble, and she had a frightened look in her eyes, and she let out a couple of short loud cries (about 10-15 seconds altogether). Dr Hollman determined that all of those little episodes were probably seizures, so she decided to put her on a seizure medication...Keppra. She will take it twice a day and we will start with a small dose and increase gradually to a full dose (1.5 ml). Lydia's head growth continued to slow down...it fell even more off the chart this visit. Dr Hollman was very concerned with her lack of development...though she was glad that she has shown some progress...she picked her head up for her while we were there.
About 30 minutes ago (at about 3:00), Dr Hollman called us because they just received a fax of the results from Atlanta. We were both relieved that it was not Rett. She said that she didn't have a chance to really look into the report in depth...she wanted to call me right away. There was no specific name for the mitochondrial disorder that she saw. She listed a few of the symptoms...some big words that were Greek to me....I figured we'd get more info about it when we meet with Dr Superneau. I asked her where it fell on the spectrum...she said, "severe." I asked her if it all added up to her..with what she knows about Lydia's symptoms....she said, "it makes perfect sense." She wants us to see Dr Superneau to discuss the report in depth and then follow-up with her by phone. She wants us to continue the plan for the Keppra and to add another medication for Lydia, but she wants to get together with Dr Superneau first so that they can discuss it.
We have an appt Wednesday morning with Dr Superneau to discuss the report and expected outcome. After we meet with him, we will decide if we want to make another appt with Dr Shoffner in Atlanta for further clarification.
Thank you for keeping us all in your thoughts and prayers.
Subscribe to:
Posts (Atom)
