Breakdown of this week's appointments:
Genetics:
Wish we had been better prepared to answer so many questions about our family history. We were only ready with what we had thought related to Aimee's symptoms. Oops. Hope we answered everything correctly!
Essentially, we are starting a new round of testing. We were there for about 4 hours getting blood tests drawn and x-rays done on her hands and wrists. They will also be doing an ultrasound or a CT scan on her abdomen, ovaries and uterus. Possibly x-rays on her ankles and feet. A few blood tests. Another set of hearing exams. No "ah ha" moments yet, but this is definitely approaching things from a different angle. The doctor did a very detailed examination and took lots of photographs. She even discovered a few abnormalities we were not aware of ourselves. Sounds like they will also be looking into the likelihood of a repeat in future children.
Orthotics:
They set us up with another new pair of shoes. Only bad news is that she will most likely be wearing them until she is four.
Orthopedics:
According to the doctor, she has a beautiful right foot. He is just proud of his work I think. Her left foot still has some toe issues, but at this point they are not too concerned with it. Her tendons, muscle tone and shape all look great.
Please pray for our finances. Children's is not charging us for any of the above through the end of June, at which point we can apply for more financial aid. However, it seems silly to say, but the cost of getting to Seattle for all of the appointments has been challenging on our budget. We have also had several small vehicle and appliance repair issues lately. It all adds up...or doesn't unfortunately.
Thank you for your continued prayers for Aimee's health and development!
02.18
Aimee had her 1 year check up this morning with Dr Cowan at Skagit Natural Family Medicine. She is making great physical growth progress. She is now 30" tall (75th percentile), 21lbs 4 oz (50th) and her head is still well below, but following the curve at 41 1/2 cm.
The doctor said she is eating solids so well that we can wean her off of breastmilk and formula to organic whole milk (hooray!).
Also, yesterday in her Occupational Therapy appointment, Aimee was really responsive and trying to work with the OT on rolling over. It was great to see her actually desiring to do it and figuring out some of the muscles.
I will update again next week after her appointment with Genetics and Orthopedics.
The doctor said she is eating solids so well that we can wean her off of breastmilk and formula to organic whole milk (hooray!).
Also, yesterday in her Occupational Therapy appointment, Aimee was really responsive and trying to work with the OT on rolling over. It was great to see her actually desiring to do it and figuring out some of the muscles.
I will update again next week after her appointment with Genetics and Orthopedics.
About Aimee
What We Say:
-Aimee is peaceful in the midst of storms. Her attitude is primarily full of delight, relaxation, and joy.
-Aimee holds the world title for best cuddler.
-Aimee is ticklish and she laughs at the sounds that make the rest of us cringe (screaming sibling, smoke alarm, fire engine, train whistles, high pitched tools).
-Aimee likes to hold hands and squeeze fingers.
-Aimee recognizes voices.
-Aimee is bright. She protects herself by going to sleep when she is scared, overwhelmed, or unsure of her surroundings.
-Aimee is self motivated. No matter how hard it is and how many times she cannot do it, she continually tries to hold up her head.
-Aimee is beautiful.
-Aimee is a ballerina at heart.
-Aimee likes country music, 50's, and 80's.
-Aimee is a mystery worth spending a lifetime researching.
-Aimee is limited and challenged; God is unlimited and not challenged by her situation.
-We love Aimee!
What The Doctors Say:
-Severe Developmental Delay- Aimee has developed to the abilities of a 2-3 month old baby. They expect her to remain at this "age" for the rest of her life.
-Microcephaly- Aimee has a very small head (.26 percentile) due to her lack of brain growth since birth. The growth in her face has been disproportionate and is causing little issues, for example her tear ducts have been forced to narrow and are continually clogged despite probing and stints.
-Delayed Myelination- The wiring that runs signals through the brain is coated with a substance called myelin, which allow these signals to run through quickly and to the correct place. When Aimee was a baby her myelin was severely underdeveloped, which did not allow her brain to form the connections it should have been learning to make at that time. The doctors believe this is just a symptom of her overall disorder, which is undiagnosed.
-Hypotonic- She has very low muscle tone, not lack of strength, but her muscles are too loose which keeps her from building strength. This causes lots of secondary issues, such as scoliosis.
-At Risk for Aspiration- Due to the low tone in her throat and mouth, it is considered unsafe for Aimee to take food and fluids by mouth. She has a feeding tube and receives a home blended diet through that. She also fights to deal with secretions like phlegm and saliva, which we use a suction machine to clear in order to protect her airway.
-Sleep Apnea and Hypoventilation- Also due to the low muscle tone, Aimee struggles to breath adequately while she sleeps. She retains excess carbon dioxide in her blood stream due to shallow breathing. She has been very sleepy her whole life and we think waking up hundreds of times a night is part of the cause. She is on a BiPap machine.
-High Risk for Respiratory Infection- Again due to the low muscle tone and her inability to handle secretions, the doctors' statistics give her a slim chance of living to adulthood, expecting her to begin to fight with pneumonias and eventually lose that fight. She is on steroid inhalers to help her prepare to fight the many illnesses that come her way.
-Chronic Constipation- Yet again due to the low muscle tone, Aimee needs help from medications, aside from lots of dietary supplements, to keep waste moving out.
-Congenital Bilateral Club Feet- She was born with club feet that were corrected through treatment.
-Hearing Impairment- She has mild to moderate hearing impairment in her both ears and wears bilateral hearing aids especially to hear lower tones.
-Cortical Vision Impairment- Her brain is unable to get many visual signals through, meaning her eyes see well and send the signal to the vision center, but her brain looses the information or can't interpret it most of the time.
-General and Localized Seizures- Aimee has multiple different types of seizures, both general tonic seizures that involve her whole brain at once and localized seizures that are only one part of her brain at a time. She is on a couple different medications to control them.
-Reflux- Partly due to muscle tone and partly due to constipation, Aimee struggles with reflux and is on strong medication to combat it.
-Aimee is peaceful in the midst of storms. Her attitude is primarily full of delight, relaxation, and joy.
-Aimee holds the world title for best cuddler.
-Aimee is ticklish and she laughs at the sounds that make the rest of us cringe (screaming sibling, smoke alarm, fire engine, train whistles, high pitched tools).
-Aimee likes to hold hands and squeeze fingers.
-Aimee recognizes voices.
-Aimee is bright. She protects herself by going to sleep when she is scared, overwhelmed, or unsure of her surroundings.
-Aimee is self motivated. No matter how hard it is and how many times she cannot do it, she continually tries to hold up her head.
-Aimee is beautiful.
-Aimee is a ballerina at heart.
-Aimee likes country music, 50's, and 80's.
-Aimee is a mystery worth spending a lifetime researching.
-Aimee is limited and challenged; God is unlimited and not challenged by her situation.
-We love Aimee!
What The Doctors Say:
-Severe Developmental Delay- Aimee has developed to the abilities of a 2-3 month old baby. They expect her to remain at this "age" for the rest of her life.
-Microcephaly- Aimee has a very small head (.26 percentile) due to her lack of brain growth since birth. The growth in her face has been disproportionate and is causing little issues, for example her tear ducts have been forced to narrow and are continually clogged despite probing and stints.
-Delayed Myelination- The wiring that runs signals through the brain is coated with a substance called myelin, which allow these signals to run through quickly and to the correct place. When Aimee was a baby her myelin was severely underdeveloped, which did not allow her brain to form the connections it should have been learning to make at that time. The doctors believe this is just a symptom of her overall disorder, which is undiagnosed.
-Hypotonic- She has very low muscle tone, not lack of strength, but her muscles are too loose which keeps her from building strength. This causes lots of secondary issues, such as scoliosis.
-At Risk for Aspiration- Due to the low tone in her throat and mouth, it is considered unsafe for Aimee to take food and fluids by mouth. She has a feeding tube and receives a home blended diet through that. She also fights to deal with secretions like phlegm and saliva, which we use a suction machine to clear in order to protect her airway.
-Sleep Apnea and Hypoventilation- Also due to the low muscle tone, Aimee struggles to breath adequately while she sleeps. She retains excess carbon dioxide in her blood stream due to shallow breathing. She has been very sleepy her whole life and we think waking up hundreds of times a night is part of the cause. She is on a BiPap machine.
-High Risk for Respiratory Infection- Again due to the low muscle tone and her inability to handle secretions, the doctors' statistics give her a slim chance of living to adulthood, expecting her to begin to fight with pneumonias and eventually lose that fight. She is on steroid inhalers to help her prepare to fight the many illnesses that come her way.
-Chronic Constipation- Yet again due to the low muscle tone, Aimee needs help from medications, aside from lots of dietary supplements, to keep waste moving out.
-Congenital Bilateral Club Feet- She was born with club feet that were corrected through treatment.
-Hearing Impairment- She has mild to moderate hearing impairment in her both ears and wears bilateral hearing aids especially to hear lower tones.
-Cortical Vision Impairment- Her brain is unable to get many visual signals through, meaning her eyes see well and send the signal to the vision center, but her brain looses the information or can't interpret it most of the time.
-General and Localized Seizures- Aimee has multiple different types of seizures, both general tonic seizures that involve her whole brain at once and localized seizures that are only one part of her brain at a time. She is on a couple different medications to control them.
-Reflux- Partly due to muscle tone and partly due to constipation, Aimee struggles with reflux and is on strong medication to combat it.
2.5.10
We are having a difficult challenge this week in seeing our good friends go through some of the things we have been through. Their new little baby boy (born on Feb 2nd) is down at Children's (I should say trapped, cause that is what happens once your baby is admitted to the hospital) trying to find a suitable solution for his overworking heart.
I can't say how much of a struggle it has been for me as friends come closer and closer to their due dates. I am so nervous to have "normal", "average" babies around. It's okay to just see them in passing, but what about when we watch them grow...and watch them pass up Aimee, even though they are a year younger or more.
On the other hand, I don't want my dear friend to have to go through anything that we have had to. I would much rather have the awkwardness of seeing her little boy grow, than the pain of watching from the sidelines...knowing so much of what is going on in her heart. Wasn't it enough for us to go through it? Did it not spare anyone else from the pain? Unfortunately, it doesn't look like it did.
Please pray for Corbin and his parents. Pray for peace and speedy answers.
I can't say how much of a struggle it has been for me as friends come closer and closer to their due dates. I am so nervous to have "normal", "average" babies around. It's okay to just see them in passing, but what about when we watch them grow...and watch them pass up Aimee, even though they are a year younger or more.
On the other hand, I don't want my dear friend to have to go through anything that we have had to. I would much rather have the awkwardness of seeing her little boy grow, than the pain of watching from the sidelines...knowing so much of what is going on in her heart. Wasn't it enough for us to go through it? Did it not spare anyone else from the pain? Unfortunately, it doesn't look like it did.
Please pray for Corbin and his parents. Pray for peace and speedy answers.
1.29.10
Aimee loves clothe diapers as much as we do!
Ed & Aimee ready to root for the JETS!
Quick Update:
We have an occupational therapist coming over every Wednesday to work with Aimee on her activity level, especially her head control. Once a month, we also have a visit from a resource coordinator from the school district. It is amazing how many different state departments there are for disabilities. It seems like every visit she is bringing over a new service to contact.
February 18th:
12 month checkup with Dr Cowan, the naturopathic doctor.
February 22nd:
Appointment with the Genetics team at Children's to reanalyze the testing that has been done to date.
February 24th:
Appointment with Dr Mosca, the orthopedic doctor at Children's, to check the progress of her feet.
February 26th:
Aimee's 1st Birthday! I can't believe it is almost here!
1.8.10
We had several appointments this week...ugh...
Wednesday we had a couple Occupational Therapy visits. Aside from having to look through several special equipment catalogs (how much space do they think we have?), they went well. New exercises to try. Aimee seems to be getting more comfortable with the therapist that comes to our home and we are getting a lot of great ideas.
We also met with the Neurodevelopmental clinic on Wednesday. We had a few more blood tests done for mitochondrial disorders (mitochondria helps to make the energy that runs organs, fuel growth, ect), as well as, a test for retS (a disorder in girls with small heads that is found in the 7th chromosome and blocks proteins). I got both of these tests results back this morning and they were all normal.
Aimee, Grandma Annette and I went yesterday to have eye exams done at Childrens. The first was a brain wave test to analyze how far the information obtained through her eyes is traveling and if it is being processed when it gets there. Despite Aimee's attempts to sleep through this test, we managed to get solid results. The doctor seemed quite surprised to tell us that they were normal. Slightly delayed responses, but normal. The delay is most likely due to the insufficient myelin.
The rest of the testing that was to be done yesterday was an Eye Movement Study, which Aimee successfully blocked out. We were unable to wake her out of her opposum like sleep in order to complete the exams. (Interesting side note: she was hooked up to the machine when she went into her first deep sleep. The doctor said she went immediately into a dream state.)
Essentially, this is what we know:
-Aimee can see and process what she sees with a slight time delay.
-She has tested normal in all areas, aside from the size of her brain/development of the myelin sheaths. This is a really good thing, because if any of the tests had come back with abnormal results it would have meant her brain would not be able to catch up.
-As it stands, we will be meeting with Genetics to be sure that all the information has been looked through and to determine the likelihood of the same challenge happening with future children.
-The critical point for creating myelin is by 3 years old. By this point, she will be permanently caught up, partially behind or stay where she is at currently. At 3, we will do another brain MRI to determine which of the these has happened and from this we can determine what point she will be able to develop physically and mentally.
-There is nothing special we can do to make the myelin get thicker faster.
-We will continue to meet with therapists to stimulate her development and neurodevelopmental doctors to track her changes in every area.
All that to say...we don't know much.
Aimee could catch up and be normal, simply using her own time clock for development.
or Aimee could be a year behind the average kids.
or Aimee could stay under developed.
No matter which of the above happens, the truth is that Aimee is lovely and a rich blessing to our family. We are having fun playing with her as she is becoming more interactive. Please pray that we would learn to completely enjoy her for who God has made her to be and that His purpose would be made perfect in her life.
Wednesday we had a couple Occupational Therapy visits. Aside from having to look through several special equipment catalogs (how much space do they think we have?), they went well. New exercises to try. Aimee seems to be getting more comfortable with the therapist that comes to our home and we are getting a lot of great ideas.
We also met with the Neurodevelopmental clinic on Wednesday. We had a few more blood tests done for mitochondrial disorders (mitochondria helps to make the energy that runs organs, fuel growth, ect), as well as, a test for retS (a disorder in girls with small heads that is found in the 7th chromosome and blocks proteins). I got both of these tests results back this morning and they were all normal.
Aimee, Grandma Annette and I went yesterday to have eye exams done at Childrens. The first was a brain wave test to analyze how far the information obtained through her eyes is traveling and if it is being processed when it gets there. Despite Aimee's attempts to sleep through this test, we managed to get solid results. The doctor seemed quite surprised to tell us that they were normal. Slightly delayed responses, but normal. The delay is most likely due to the insufficient myelin.
The rest of the testing that was to be done yesterday was an Eye Movement Study, which Aimee successfully blocked out. We were unable to wake her out of her opposum like sleep in order to complete the exams. (Interesting side note: she was hooked up to the machine when she went into her first deep sleep. The doctor said she went immediately into a dream state.)
Essentially, this is what we know:
-Aimee can see and process what she sees with a slight time delay.
-She has tested normal in all areas, aside from the size of her brain/development of the myelin sheaths. This is a really good thing, because if any of the tests had come back with abnormal results it would have meant her brain would not be able to catch up.
-As it stands, we will be meeting with Genetics to be sure that all the information has been looked through and to determine the likelihood of the same challenge happening with future children.
-The critical point for creating myelin is by 3 years old. By this point, she will be permanently caught up, partially behind or stay where she is at currently. At 3, we will do another brain MRI to determine which of the these has happened and from this we can determine what point she will be able to develop physically and mentally.
-There is nothing special we can do to make the myelin get thicker faster.
-We will continue to meet with therapists to stimulate her development and neurodevelopmental doctors to track her changes in every area.
All that to say...we don't know much.
Aimee could catch up and be normal, simply using her own time clock for development.
or Aimee could be a year behind the average kids.
or Aimee could stay under developed.
No matter which of the above happens, the truth is that Aimee is lovely and a rich blessing to our family. We are having fun playing with her as she is becoming more interactive. Please pray that we would learn to completely enjoy her for who God has made her to be and that His purpose would be made perfect in her life.
12.22
I found out yesterday that our financial aid application was approved. We haven't gotten too many details yet, but we at least know that the brain MRI was covered. Thank you Jesus!
Subscribe to:
Posts (Atom)