March 16, 2010
March 9, 2010
oops
ugh. I just posted so many pictures on the last post and they didn't save. I will try again later!
A special baby - part 2
I posted a life changing post on September 28 titled A Special Baby...just 22 days after Luke was born. He was diagnosed with a rare genetic potentially life threatening skin disease called Epidermolysis Bullosa. There was SO much to learn.
Here we are almost 6 months later. It has been the happiest and saddest 6 months of our lives. Last Thursday, March 4, I got the LONG awaited phone call from the Texas Children's Genetics Department with the results of Luke's specific type of EB. This is important information because it helps us know his prognosis. He has been diagnosed with the Simplex Dowling Meara type of EB (EBS-DM). Here is the description from the Debra site:
Dowling Meara Subtype of EB Simplex:
EBS-DM is a generalized form of EB simplex. This type of EB is probably the most severe form of EB Simplex.
Infants are often born with widespread grouping of blisters on the face, trunk and limbs. Blisters on hands and feet often eventually cause confluent keratoderma (thickening of the skin). In many cases these calluses form complete thickening of the palms and soles. If the thickening is severe enough it may limit the range of motion of a joint. In such cases, consultation from a surgeon may be necessary to determine the best course of treatment.
Heat may exacerbate blistering. Milia (tiny cysts on skin) may be present after blisters have healed. Nail thickening and discoloration is a common feature.
Blistering in Dowling Meara EBS can involve organs including the oral cavity, gastrointestinal tract and rarely, the upper respiratory tree.
Electron microscopy shows clumps of keratin filaments, which are not seen in other forms of EB simplex.
Mutations are usually in the genes encoding K5 or K14.
Since EBS-DM is the most severe form of EBS, the widespread blistering may lead to death in infancy. However, blistering tends to become smaller and less problematic for most patients as they grow older.
*Since EB varies in severity these manifestations may or may not be experienced by the individual affected.
Common Manifestations of EBS:
Blisters
Keratoderma - Thickened skin on palms of hands and soles of feet. Confluent keratoderma in EBS-DM.
Nail dystrophy - The presence of rough, thickened or absent finger or toenails.
Problems with the soft tissue inside the mouth.
Uncommon Manifestations of EBS:
Milia - Tiny skin cysts.
Atrophic scarring - Depressions in skin as a result of thinning in epidermis or dermis.
Anemia - A reduced amount of red blood cells, volume of red blood cells, amount of hemoglobin. Hemoglobin is the oxygen carrying portion of the red blood cell. The heme aspect of hemoglobin, is the iron compound that makes up the pigment part of the hemoglobin molecule. Anemia is more common in the severely affected individual.
Growth retardation. This is more common in a severely affected individual.
Gastrointestinal tract - Involvement of the GI tract may include blisters in mouth, esophagus and/or anal margins.
Rare Manifestations of EBS:
Granulation tissue - The appearance of red fleshy tissue which is capillary formation during tissue healing This would be a rare occurrence in a person affected with EBS. This is more commonly seen in a person severely affected with Junctional EB.
Dental caries (cavities) - This is more common in people affected with RDEB or JEB however, if mouth care is not performed regularly it will increase chances of cavities.
Ocular (eye) involvement is more commonly seen in people with RDEB or JEB however, it has been reported in some forms of EBS.
Pseudosyndactyly - Fusion of fingers and/or toes. This manifestation is more commonly seen in RDEB. In rare instances it has been reported in EBS-DM.
Enamel hypoplasia - Underdeveloped enamel upon the teeth. This is more prevalent in patients with JEB.
Respiratory tract involvement. Rare occurrences have been noted in the more severely affected individual.
Genitourinary tract involvement. Rare occurrences involving the GU tract have been reported in some forms of EBS.
As you can see this is both good and sad news. Good because it is Simplex and sad because it is the most severe form. I just got off the phone with our Genetics doctor and it is highly recommended that Greg and I are tested. Based on the results of our labs, we will know more as to our potential for having more children with EB. The BEST case scenario is a 2/100 chance of us having another baby with EB. This might seem low, but for the average person, there is a 1/50,000 to 1/100,000 chance of having a baby with EB. Please pray with us as we have difficult decisions to make in the future.
Luke is doing great! He is seriously the happiest, most charismatic baby. He is finally getting over an awful stomach virus and starting to eat again!
We just got back from Vail on Sunday. I didn't get very many pictures of him because he stayed at the house with mom most of the time while we were out skiing! (thanks mom!)It was a great trip with family. Luke's blisters on his face started healing great with the cold, dry weather, however, he was taking a lot of meds so he had a rash on his face.
Here we are almost 6 months later. It has been the happiest and saddest 6 months of our lives. Last Thursday, March 4, I got the LONG awaited phone call from the Texas Children's Genetics Department with the results of Luke's specific type of EB. This is important information because it helps us know his prognosis. He has been diagnosed with the Simplex Dowling Meara type of EB (EBS-DM). Here is the description from the Debra site:
Dowling Meara Subtype of EB Simplex:
EBS-DM is a generalized form of EB simplex. This type of EB is probably the most severe form of EB Simplex.
Infants are often born with widespread grouping of blisters on the face, trunk and limbs. Blisters on hands and feet often eventually cause confluent keratoderma (thickening of the skin). In many cases these calluses form complete thickening of the palms and soles. If the thickening is severe enough it may limit the range of motion of a joint. In such cases, consultation from a surgeon may be necessary to determine the best course of treatment.
Heat may exacerbate blistering. Milia (tiny cysts on skin) may be present after blisters have healed. Nail thickening and discoloration is a common feature.
Blistering in Dowling Meara EBS can involve organs including the oral cavity, gastrointestinal tract and rarely, the upper respiratory tree.
Electron microscopy shows clumps of keratin filaments, which are not seen in other forms of EB simplex.
Mutations are usually in the genes encoding K5 or K14.
Since EBS-DM is the most severe form of EBS, the widespread blistering may lead to death in infancy. However, blistering tends to become smaller and less problematic for most patients as they grow older.
*Since EB varies in severity these manifestations may or may not be experienced by the individual affected.
Common Manifestations of EBS:
Blisters
Keratoderma - Thickened skin on palms of hands and soles of feet. Confluent keratoderma in EBS-DM.
Nail dystrophy - The presence of rough, thickened or absent finger or toenails.
Problems with the soft tissue inside the mouth.
Uncommon Manifestations of EBS:
Milia - Tiny skin cysts.
Atrophic scarring - Depressions in skin as a result of thinning in epidermis or dermis.
Anemia - A reduced amount of red blood cells, volume of red blood cells, amount of hemoglobin. Hemoglobin is the oxygen carrying portion of the red blood cell. The heme aspect of hemoglobin, is the iron compound that makes up the pigment part of the hemoglobin molecule. Anemia is more common in the severely affected individual.
Growth retardation. This is more common in a severely affected individual.
Gastrointestinal tract - Involvement of the GI tract may include blisters in mouth, esophagus and/or anal margins.
Rare Manifestations of EBS:
Granulation tissue - The appearance of red fleshy tissue which is capillary formation during tissue healing This would be a rare occurrence in a person affected with EBS. This is more commonly seen in a person severely affected with Junctional EB.
Dental caries (cavities) - This is more common in people affected with RDEB or JEB however, if mouth care is not performed regularly it will increase chances of cavities.
Ocular (eye) involvement is more commonly seen in people with RDEB or JEB however, it has been reported in some forms of EBS.
Pseudosyndactyly - Fusion of fingers and/or toes. This manifestation is more commonly seen in RDEB. In rare instances it has been reported in EBS-DM.
Enamel hypoplasia - Underdeveloped enamel upon the teeth. This is more prevalent in patients with JEB.
Respiratory tract involvement. Rare occurrences have been noted in the more severely affected individual.
Genitourinary tract involvement. Rare occurrences involving the GU tract have been reported in some forms of EBS.
As you can see this is both good and sad news. Good because it is Simplex and sad because it is the most severe form. I just got off the phone with our Genetics doctor and it is highly recommended that Greg and I are tested. Based on the results of our labs, we will know more as to our potential for having more children with EB. The BEST case scenario is a 2/100 chance of us having another baby with EB. This might seem low, but for the average person, there is a 1/50,000 to 1/100,000 chance of having a baby with EB. Please pray with us as we have difficult decisions to make in the future.
Luke is doing great! He is seriously the happiest, most charismatic baby. He is finally getting over an awful stomach virus and starting to eat again!
We just got back from Vail on Sunday. I didn't get very many pictures of him because he stayed at the house with mom most of the time while we were out skiing! (thanks mom!)It was a great trip with family. Luke's blisters on his face started healing great with the cold, dry weather, however, he was taking a lot of meds so he had a rash on his face.
February 8, 2010
What he can do, doctor visit, and more!
not a great shot, but this was his Bible dedication day...I have better pics on my dads camera
5 months and looks SO GREAT! (not to brag :))
I forgot to document what Luke is doing these days on my last post. Here is his latest tricks:
- rolled from his tummy to back (I have this on video...still don't know how to get it on here though...) just today he rolled from his back to tummy!!! Lindsay was watching him while I went to the doctor and she said he was rolling everywhere!! Thanks for playing with Luke Lindsay, Nancy, and JT!
- trying/wanting to sit up. He is not near doing it, but he does that little stomach crunch thing when he is layed back
- still not great with his hands. If there is something (toy etc) in front of him he will reach for it, but if he actually grasps it he doesn't know what he is doing and lets go
- starting to be more steady in his exersaucer and notice/play with the toys on it
- babbles A LOT! I love to listen to him "talk." I think it's so sweet :)
- still no solids- not even rice cereal. Because of his skin we were told to hold off as long as possible (will start in the 6th month) He drinks about 6 bottles a day ranging from 4-6 oz
I took Luke to see Dr. J (pedi) last Tuesday (as I mentioned in my last post) just as a precaution because he had been fighting a cough/cold for almost 3 weeks. I knew I was probably going to be told it is just a virus and it would have to run its course. Well...here is how it went:
Dr. J - what's going on with Luke?
me - ohh just battling a nasty cough and runny nose
Dr. J - any wheezing?
me - NOOOO I have never heard that! I'm sure he is just congested.
Dr. J - (puts stethoscope on Luke) (gives me a big smirk immediately) oh yes, he is wheezing!
me - oops. I guess I don't know what wheezing sounds like.
Dr J - (takes one look in an ear) yep, an ear infection too
me- oh dear.
Dr. J - you are really lucky to have a baby with the disposition Luke has...tough time breathing and and ear infection and you didn't notice! :)
me - haha(thinking BAD MOMMY!!!)
sooo we went in just to check and walked out with 5 prescriptions 1. antibiotic for ear 2. ear drops 3. steroid for lungs 4. breathing treatment 5. inhaler
and if that is not enough...the antibiotic has caused a SERIOUS rash on his bum which has now BLISTERED! (the previous blisters in his crack are still there too) I had to drain about 10 small blisters on his upper thigh this morning so they would not grow anymore. I am still leaving the ones on his bum alone in fear of infection. Dr. J has called in some cream for the rash and we are going to see our derm. on Wednesday. Our derm, Dr. Bree, who we LOVE is the director/lead doctor of a summer camp for EB kids. I can't wait to get more info. on it when we go see her. She has been our favorite doc. and I can't wait for Luke to be a part of her camp!
One last thing...I did not want this to be a sad post but I just read a story that made me so sad and scared. I will copy and paste it below. Please pray that Luke just has a LONG COLD and nothing like this happens. Also, if you're praying, pray for ALL OF THE SICK BABIES and those families who have dealt with the loss of a little one! I am scared because Luke has now had this congestion stuff for almost 4 WEEKS! I am getting a new steroid today so hopefully it heals his lungs! Oh and the type of EB this baby had is what we are predicting for Luke.
"Like many babies with older siblings, he caught every cold his brothers brought home from school. And they always settled in his chest. Even with breathing treatments and steroids, it was difficult to reduce the mucus and inflammation in his lungs. He had frequently breathing difficulties that landed him in the ER. He never had any signs of upper airway issues and nothing that indicated that it was EB related. Two weeks ago tomorrow he stopped breathing for a third time. This time is heart stopped as well. It took 15 minutes to bring him back. He had been on a ventilator ever since. Yesterday he had an MRI done which shown significant brain damage from being without oxygen for so long.
It is with a broken heart and deep regret that I must inform you that little Jameson got his wings this morning"
Sorry to end on a sad note..I PROMISE the next post will only be HAPPY! Happy Valentine's!
February 2, 2010
almost 5 months!
Luke is napping right now...or at least trying to, so I thought I would give a little update.
This past weekend my mom and dad came in to visit. We had Luke's Bible presentation at church Sunday morning. Luke did great! My dad took some pictures and I will post them as soon as he emails them to me. I know events like this are probably super special to all parents, but I can't help to think how special it is for us that Luke is thriving like he is and for him to get to be a part of these special moments. We try not to take advantage of anything we do with our little one. We know there will be many times throughout Luke's life when he won't get to do "normal" things because of his terrible disease so each milestone seems extra special. (again, if I could only pause his life and keep him a baby! no crawling! no walking! no solid foods! only cuddling and bottles!:) just kidding...I want him to experience all of these things as long as he can do them without pain!)
We are off to our pedi. this afternoon. Luke has had this nasty cough for almost 3 weeks. My sister told me that sometimes a cough longer than 2 weeks or so can possibly turn into pneumonia. Sooo we are going as a precaution! It has been a little scary at night when he coughs and it turns into a choking sound.
I also want to get the sole of his foot looked at. There is a BIG blister that will not stop growing! It has been so frustrating! I poke it so many times and it keeps filling back up and getting bigger! It is really red too so I just want to make sure nothing looks infected. His bottom crack is still looking bad. He now has multiple blisters down it. They don't seem to bother him much unless I accidentally wipe instead of 'pat'. We have been keeping them COATED with Aquaphor and Desitin..hopefully they heal SOON! On another note, I have become SO much better at wrapping him! The dressing on his feet actually stay on now! :) Yay!
Luke will be 5 months on the 6th. I can't believe how fast time has gone by. There has been SO much joy brought into our lives by this little boy. He is a fighter that keeps on fighting! He has definitely helped Greg and I become stronger people, closer to one another, closer to God, and has taught us how to love like we never knew possible. Well, I actually attribute that to our Father, but He continues to use Luke as an Earthly teacher! 2009 was filled with so many emotions...here's to a wonderful 2010! (I will take his 5 month pic this week and post it.)
This past weekend my mom and dad came in to visit. We had Luke's Bible presentation at church Sunday morning. Luke did great! My dad took some pictures and I will post them as soon as he emails them to me. I know events like this are probably super special to all parents, but I can't help to think how special it is for us that Luke is thriving like he is and for him to get to be a part of these special moments. We try not to take advantage of anything we do with our little one. We know there will be many times throughout Luke's life when he won't get to do "normal" things because of his terrible disease so each milestone seems extra special. (again, if I could only pause his life and keep him a baby! no crawling! no walking! no solid foods! only cuddling and bottles!:) just kidding...I want him to experience all of these things as long as he can do them without pain!)
We are off to our pedi. this afternoon. Luke has had this nasty cough for almost 3 weeks. My sister told me that sometimes a cough longer than 2 weeks or so can possibly turn into pneumonia. Sooo we are going as a precaution! It has been a little scary at night when he coughs and it turns into a choking sound.
I also want to get the sole of his foot looked at. There is a BIG blister that will not stop growing! It has been so frustrating! I poke it so many times and it keeps filling back up and getting bigger! It is really red too so I just want to make sure nothing looks infected. His bottom crack is still looking bad. He now has multiple blisters down it. They don't seem to bother him much unless I accidentally wipe instead of 'pat'. We have been keeping them COATED with Aquaphor and Desitin..hopefully they heal SOON! On another note, I have become SO much better at wrapping him! The dressing on his feet actually stay on now! :) Yay!
Luke will be 5 months on the 6th. I can't believe how fast time has gone by. There has been SO much joy brought into our lives by this little boy. He is a fighter that keeps on fighting! He has definitely helped Greg and I become stronger people, closer to one another, closer to God, and has taught us how to love like we never knew possible. Well, I actually attribute that to our Father, but He continues to use Luke as an Earthly teacher! 2009 was filled with so many emotions...here's to a wonderful 2010! (I will take his 5 month pic this week and post it.)
January 24, 2010
4 month well check and a few pics
Luke had his 4 month well check up last week with Dr. J. (2 weeks late) Dr. J. was VERY impressed with how well Luke is thriving. Praise God! Here are a few stats from our appointment:
WEIGHT - 16lbs 7oz - 75%
HEAD - 90% (his head seemed to have grown a lot from his 2 month...which he was in the 75% :))
HEIGHT - 26 1/4" - 90%
My sister Anna (a pediatric nurse in Dallas) has been telling me since Luke was born that his head looks tilted a little to the left. When she was here over Thanksgiving she said he might have a mild case of Torticollis. (it is a tightness of one sternocleidomastoid muscle which can usually be treated with stretching) Then Nancy (James' mom - a pediatric PT) was here and thought he had Torticollis too. She taught me the proper exercises to do on Luke's neck to help get rid of it. Dr. J. confirmed the Torticollis while at our appointment and told me to do the stretches at every diaper change. Luke doesn't seem to mind the stretching too much as long as I am singing to him while doing it!
We have had a great few weeks. Luke is looking great these days so I am trying to savor the moments before his face gets bad again. His thighs are healing good with not too many new blisters forming. He has a few tiny ones forming on his calves and unfortunately in his bottom crack! :) I am not sure how to care for those. If I drain them I am afraid of infection. (any EB moms reading this I would appreciate some advice!) So far they haven't caused any problems and are not growing at the rate most do. His fingers, especially his thumbs are a different story. They go from bad to awful then back to bad. I'm sure it doesn't help that he might be starting to teethe because he always has his hands in his mouth! As far as his feet go...they look about the same. The sole of one foot looks terrible and I think might be a bit painful too. Luke is a VERY tough boy though. He will let out a tiny whimper here and there when we are messing with the blisters but other than that I think he is getting used to it. I'm sure God has given him one heck of a pain tolerance! Greg and I always talk and sing to him while doing our care routine. Nancy gave him some cute CD's that say his name throughout the songs. I love the Jesus music one...it is so so sweet. We play those while dressing him after his bath as well.
We tend to stay pretty busy during the day. I am really trying NOT to take advantage of having close friends near by. Lindsay and I see each other everyday and the boys are really starting to notice one another. I can't wait until Luke can sit up so they can really play together. We have enjoyed many walks together lately since the weather has been so great.
Here are a few pics. The last one is from today before we left for church. I had to show off his cute outfit his Kippy gave him. He spits up a million times a day so it is hard to put him in nice clothes most of the time!
WEIGHT - 16lbs 7oz - 75%
HEAD - 90% (his head seemed to have grown a lot from his 2 month...which he was in the 75% :))
HEIGHT - 26 1/4" - 90%
My sister Anna (a pediatric nurse in Dallas) has been telling me since Luke was born that his head looks tilted a little to the left. When she was here over Thanksgiving she said he might have a mild case of Torticollis. (it is a tightness of one sternocleidomastoid muscle which can usually be treated with stretching) Then Nancy (James' mom - a pediatric PT) was here and thought he had Torticollis too. She taught me the proper exercises to do on Luke's neck to help get rid of it. Dr. J. confirmed the Torticollis while at our appointment and told me to do the stretches at every diaper change. Luke doesn't seem to mind the stretching too much as long as I am singing to him while doing it!
We have had a great few weeks. Luke is looking great these days so I am trying to savor the moments before his face gets bad again. His thighs are healing good with not too many new blisters forming. He has a few tiny ones forming on his calves and unfortunately in his bottom crack! :) I am not sure how to care for those. If I drain them I am afraid of infection. (any EB moms reading this I would appreciate some advice!) So far they haven't caused any problems and are not growing at the rate most do. His fingers, especially his thumbs are a different story. They go from bad to awful then back to bad. I'm sure it doesn't help that he might be starting to teethe because he always has his hands in his mouth! As far as his feet go...they look about the same. The sole of one foot looks terrible and I think might be a bit painful too. Luke is a VERY tough boy though. He will let out a tiny whimper here and there when we are messing with the blisters but other than that I think he is getting used to it. I'm sure God has given him one heck of a pain tolerance! Greg and I always talk and sing to him while doing our care routine. Nancy gave him some cute CD's that say his name throughout the songs. I love the Jesus music one...it is so so sweet. We play those while dressing him after his bath as well.
We tend to stay pretty busy during the day. I am really trying NOT to take advantage of having close friends near by. Lindsay and I see each other everyday and the boys are really starting to notice one another. I can't wait until Luke can sit up so they can really play together. We have enjoyed many walks together lately since the weather has been so great.
Here are a few pics. The last one is from today before we left for church. I had to show off his cute outfit his Kippy gave him. He spits up a million times a day so it is hard to put him in nice clothes most of the time!
January 9, 2010
genetics appointment, updates, and PICTURES galore!
beware of a long post!
Last Monday we had our first genetics appointment at Texas Children's. We liked our doctor (yay!) and learned a few new things. They took lots of blood from Luke to be sent off to some special lab. Apparently there is only one lab in the US that does this kind of testing so we won't know anything for 6 weeks to 3 months! annoying! Here is what we are HOPING to learn from his blood work: a)what type of EB (it's about time!) b) HOPEFULLY the subtype c)possibly gene mutations and/or was it a random mutation or could Greg and I carry the gene (in which case more testing on us will happen) These are all BIG things to know. Each different type of EB has a different prognosis some of which extremely severe. Based on looks alone, our derm. thought it is junctional but we have also heard simplex. We also learned that even if it was a random gene mutation, there is still a higher chance of us having another baby with EB. Please pray as Greg and I will have big decision to make in the future about having another baby. More on this in a few weeks!
We had a great week with Devin, Diane, and Kelsey here. Unfortunately, I didn't get any pictures because of the missing camera battery, :( Our week consisted of eating a lot, go cart racing, ice skating, and a lot of relaxing and loving on Luke! Thanks for making the trip from Virginia Diane and Devin!
Here are some pics from Christmas in Longview: (as you can see, Luke's face is looking great! It is so weird how it seems to all begin to heal at once and then lots of blistring comes back at once.)
Anna, me, and Luke after the Christmas Eve service. He was not on his best behavior for church!
The pictures below are of the room my mom and dad re did as a nursery in their house! It even had a Fisher Price nativity set up. Also, the bathroom had decor on the walls...it is so cute!
Last Monday we had our first genetics appointment at Texas Children's. We liked our doctor (yay!) and learned a few new things. They took lots of blood from Luke to be sent off to some special lab. Apparently there is only one lab in the US that does this kind of testing so we won't know anything for 6 weeks to 3 months! annoying! Here is what we are HOPING to learn from his blood work: a)what type of EB (it's about time!) b) HOPEFULLY the subtype c)possibly gene mutations and/or was it a random mutation or could Greg and I carry the gene (in which case more testing on us will happen) These are all BIG things to know. Each different type of EB has a different prognosis some of which extremely severe. Based on looks alone, our derm. thought it is junctional but we have also heard simplex. We also learned that even if it was a random gene mutation, there is still a higher chance of us having another baby with EB. Please pray as Greg and I will have big decision to make in the future about having another baby. More on this in a few weeks!
We had a great week with Devin, Diane, and Kelsey here. Unfortunately, I didn't get any pictures because of the missing camera battery, :( Our week consisted of eating a lot, go cart racing, ice skating, and a lot of relaxing and loving on Luke! Thanks for making the trip from Virginia Diane and Devin!
Here are some pics from Christmas in Longview: (as you can see, Luke's face is looking great! It is so weird how it seems to all begin to heal at once and then lots of blistring comes back at once.)
Anna, me, and Luke after the Christmas Eve service. He was not on his best behavior for church!
The pictures below are of the room my mom and dad re did as a nursery in their house! It even had a Fisher Price nativity set up. Also, the bathroom had decor on the walls...it is so cute!
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