l where do I begin? It has been awhile since I have had the energy or the time to blog about the girls. I last left you all with Molly's new diagnosis. It has been a long road sine then just getting Molly's therapy schedule and Mikaela's schedule smoothed out along with the numerous Dr's that wanted to follow up with our new found info on Molly's situation.
I am so loss for a spot to start with out leaving you all confused so I will just list the new things that have happened or will be happening in all our lives. I hope you can follow along and please feel free to comment on pics I love seeing the comments.I might jump around because I will be typing as things come to mind.
First as you can see Molly now has glasses and will for the rest of her life. She has an astigmatism in both eyes. The glasses are not for vision but to keep her eyes straight. With out them she has eyes that wander. This is common with C-ACC. Her eyes are being followed closely at New England Eye center @ Floating Hospital for Children. They are watching for what is called septo-optic dysplasia. So far she is great. The Perkins school for the bling is coming out to work with Molly to improve her eye coordination. We hope this prevents any further eye issues with strength.
Second Molly now had AFO's Ankle foot orthotics. The will giver her legs the guides to grow straight and the support to stand. Because she is non mobile these will support her feet because her muscles and ankles are weak and the bones are soft. Follow the other posts for pics.
I will blog some posts and post pics in others.
Lets see what else.
Oh yes since we got Molly diagnosis we also had some genetic testing done and found Molly has a microdeletion on her 3rd chromosome. For all we know right now Matt or I could carry this.
Further testing is going on now looking for more within Molly genetic make up then we'll be tested.
We have a new neurologist that makes me feel better about his approach to following Molly through out her life. Her last neuro said see ya in a year. That did not sit well with me.I was hoping that the neurologist would be more of a guide on my teach of specialist in the years to come.
OT
I came across this bit of info you all might like about C-ACC
The list of signs and symptoms mentioned in various sources for Agenesis of the corpus callosum includes the 14 symptoms listed below:
- Symptoms may appear in
infants or children or may be milder in later life.
- Seizures
- Feeding problems
- Developmental delay
- Delayed head control
- Delayed sitting
- Delayed standing
- Delayed walking
- Impaired mental development
- Impaired physical development
- Impaired hand-eye coordination
- Impaired visual memory
- Impaired auditory memory
- Hydrocephaly
Speaking of that We are extremely fortunate that Molly is not a medically disabled child. Meaning she does not need machines to cough breath or eat. I know many children that have so many pieces of equipment that accompany them and their braces or splints. Molly just has braces hand splints and support equipment for her physical health.
Here is more to read
Definition
Agenesis of the corpus callosum (ACC) is an abnormality of brain structure, present at birth, that is characterized by partial or complete absence of the corpus callosum. The corpus callosum is a bundle of nerve fibers that connects the two hemispheres (halves) of the brain and allows information to pass back and forth between both sides.
Description
Agenesis of the corpus callosum is one form of abnormal corpus callosum development. Other corpus callosum disorders include hypoplastic (thin or underdeveloped) corpus callosum and dysgenesis (abnormal formation) of the corpus callosum. In complete ACC, the corpus callosum is entirely missing. In partial ACC, some portion, usually the posterior portion, is absent. Agenesis of the corpus callosum is often found in combination with other brain abnormalities and some degree of mental impairment. Birth defects involving other parts of the body (especially the eyes, face, heart, and skeletal system) may also be present. ACC can occur alone, without other obvious brain abnormalities. In some of these cases, the affected person is healthy and has an IQ (intelligence quotient) in the normal range. Even in these cases however, subtle neuropsychological and cognitive abnormalities may exist.
Demographics
Estimates of the frequency of ACC range between 0.0005% and 0.7% of children. An incidence of 2–3% has been reported in children with developmental disabilities. Between one-half to three-quarters of cases of ACC occur in males. ACC is a feature of Aicardi syndrome, an X-linked (caused by a gene on the X chromosome) condition that occurs almost exclusively in females and is thought to be lethal in males.
Causes and symptoms
The corpus callosum forms during the fifth to sixteenth week of pregnancy. It is thought that ACC occurs when one or more factors interfere with the migration (movement) of cells in the brain that eventually form the corpus callosum. An underlying cause for ACC is found in about one-half of cases. Factors that may affect normal corpus callosum development include:
* prenatal infections, viruses, or toxic exposures such as rubella or fetal alcohol syndrome
* chromosome abnormalities such as trisomy 8, trisomy 13, and trisomy 18
* genetic syndromes such as Aicardi syndrome, acrocallosal syndrome, Andermann syndrome, Shapiro syndrome, and Menkes disease
* blocked growth of the corpus callosum due to cysts or other abnormal structures
* a cerebral dysgenesis syndrome, in which there is abnormal formation of the brain such as Dandy-Walker syndrome, Arnold-Chiari malformation, holoprosencephaly, or hydrocephalus
The symptoms of ACC largely depend on the presence or absence of other medical conditions. The majority of children with ACC with other brain abnormalities usually show signs of a neurological disorder by age two. Symptoms in these children can include:
* seizures
* developmental delay and/or mental retardation
* increased or decreased head size
* hydrocephalus (abnormal accumulation of cerebrospinalfluid in the spaces of the brain)
* cerebral palsy
* hypotonia (decreased muscle tone)
* failure to thrive
In children with ACC who otherwise have limited neurological problems, there are slight differences in cognition (thought processes) and psychosocial functioning compared with children without ACC. Neuropsychological testing has shown that such individuals can have any of the following:
* motor, language, or cognitive delays
* poor motor coordination
* sensitivity to tactile sensations
* high pain tolerance
* cognitive and social challenges
Cognitive and social challenges may become more apparent with age. Examples of these challenges include difficulties using language in social settings and with performing tasks that require complex reasoning, creativity, or problem-solving skills. Patients with ACC may display limited insight into one's own behavior, a lack of awareness of others' feelings, misunderstanding of social cues, limited sophistication of humor, and difficulty imagining consequences of behavior.
Diagnosis
A health professional suspicious of ACC may recommend a neurological evaluation that includes imaging studies. The more subtle cognitive and psychosocial problems found in individuals with isolated ACC are less likely to lead to the diagnosis. In some cases, the diagnosis of ACC is incidental, made in the course of an evaluation for other reasons. There may well be many asymptomatic individuals with partial or complete agenesis who never come to medical attention.
Diagnosis of ACC relies on imaging studies such as ultrasound (prenatal or postnatal), magnetic resonance imaging (MRI), or computerized axial tomography (CT or CAT) scan. Diagnostic findings include:
* absence of the corpus callosum
* widely displaced and parallel lateral ventricles
* selective dilatation of the posterior horns
* widely spaced frontal horns
* upward displacement and enlargement of the third ventricle
* displaced orientation of gyral markings
Fetal ultrasound can detect some but not all cases of ACC, beginning at about 20 weeks of pregnancy. The prenatal or postnatal diagnosis of ACC should be followed by studies aimed to determine the cause for the ACC. Such studies may include chromosome analysis, metabolic screening, and genetic and ophthalmologic consultations.
Treatment team
Treatment for patients with ACC is highly individualized because the severity of symptoms varies from patient to patient. Depending upon the symptoms, many medical specialists can assist the patient's primary physician or nurse practitioner, including a neurologist, ophthalmologist, geneticist, neuropsychologist, behavioral psychologist, occupational therapist, physical therapist, speech-language pathologist, and experts in special education and early intervention.
Treatment
There is no cure for ACC. Treatment primarily includes management of associated problems such as seizures, hydrocephalus, and cerebral palsy.
Recovery and rehabilitation
Limited information is available about the optimal remedial strategies for individuals with ACC. Speech therapy, occupational therapy, physical therapy, and early intervention are common services provided to patients with ACC. The goal of these therapies is to maximize the patient's success in school, work, and life in general. Speech therapy can help patients with speech delays, apraxia (the inability to make voluntary movements despite normal muscle function), and difficulties with pragmatics or social language use. Occupational therapy can help patients with sensory integration problems. Physical therapy can help address problems such as impaired coordination, motor delays, and spasticity (abnormally increased muscle stiffness and restricted movement).
Clinical trials
There are currently no clinical trials for patients with agenesis of the corpus callosum. Patients and families may elect to participate in genetic research. Laboratories searching for genes associated with agenesis of the corpus callosum include the laboratory of Elliott H. Sherr M.D., Ph.D, at the University of California, San Francisco, and the Harvard Institutes of Medicine. Both labs accept contact from patients and families.
Prognosis
The prognosis for ACC varies according to the presence and severity of associated problems such as microcephaly (small head), seizures, cerebral palsy, and cerebral dysgenesis. In the case of a fetus diagnosed with isolated ACC, prediction of outcome remains imprecise. Estimates of the chance for a normal developmental outcome for a case detected prenatally range from 35–85%. It has also been stated that a so-called "normal" or "asymptomatic" outcome for ACC does not exist. Subtle or cognitive and psychosocial differences have been found in patients with ACC and a normal IQ.
Special concerns
The special educational needs of children with ACC vary. Children with ACC may be eligible for an individual education plan (IEP). An IEP provides a framework from which administrators, teachers, and parents can meet the educational needs of a child with ACC. Depending upon severity of symptoms and the degree of learning difficulties, some children with ACC may be best served by special education classes or a private educational setting.
As far as Molly goes She is doing WONDERFUL!!!
Daddy is doing well he is so good to all of us.
Mommy has her good days and bad days with this. ( I see the other kids her age doing so much and wonder when will she get to play like that)
Mikaela great starting to wonder more about her sister and why she doesn't walk or has to be carried all the time.
Molly at 15 months started to feed herself cheerios and other small items like paper. LOL
She is sitting better but struggles a bit when she is playing. Doing two things at once is difficult for her but she manages well.
She drinks from a straw too. Bottle are gone!!!!
At 17mos Molly can roll from tummy to back. She rolls back and forth alot now. It's great! I actually have to contain her in the pack n play when I want to shower. She thinks she can just drop to the floor and go. Poor thing gets so mad.
At 18 mos she is starting to articulate sounds better and words. She calls for Dada all the time and knows to stop after I sign and tell her he is at work. Calls for Kaya " Yaaa" is her sound
"Ki ti" for kitty
"cacker" f cracker
Clearly says Einsteins when asked. She loves those little people. Mikaela did too.
Her hands are functioning better too. She is more interested in toys and can point to things she wants and tries to open things.
We have been told her hand is structurally small on the right and her thumbs not only adducted but her right thumbs is shorter. Now we know why she has such a difficult time with her right.We hope between acupuncture, herbs her hands ,will get better.
Oh yeas we started Acupuncture to compliment the Chiropractic adjustments and an herbal supplement.
The chiropractor so a huge difference in her. Then the Acupuncture began to improve her hand and mouth function, but once we added the herbal supplement wow!!!! She turned into a whole new little girl. Her personality her awareness was turned on even more then before.
Some people are afraid of the unknown and the Chiropractor, and acupuncturist are some things people are skeptical about, even herbs. I for one, am not. I have been using herbal supplements wisely since before I had children. Mostly when I was trying to get pregnant and while pregnant. So both girls have been on herbs even before they were born to breath in our world. I am a firm believer in these three practices. I feel that Molly is progression has increased each time I added one of these practices. First the Chiropractor, then accupuncture now an herbal tincture. It's been 3 months now since we added the tincture and the things Molly tries to do is unbelievable.
The babbeling, the spoon feeding, the pointing understanding her left and right move independently. WOW! I still owe a lot of gratitude to OT and PT but with out the other three components I do not believe that Molly would be as far as she is.
To understand Molly's physical issues you would have to sit her next to other 18 month olds to see the difference. However, her gains are huge. Just sitting is hard work for her.
The only way I can explain it is breathing is natural to us. Typing, like I am doing now is second nature. Molly will have to think hard about each movement just to get her hand to the keyboard and point a finger to press a single letter. Even the thought to press a single key is work her her. Think about sitting. We just do it. How did you learn to read? I can't even remember. For her each thing is work and a long processing time in her brain to execute it. For us walking as a baby took days some took months to accomplish; for Molly it could take years. In a 60 day time frame is how we have to look at her goals an they are minute and sometimes do not happen in 60 days.
All in all Molly is GREAT!!! and always Smiling!!! I am sure I am missing something on Molly but it will have to wait until next blogging session. Actually Mikaela is next blog session in between pics
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