Microcephaly
Infants with microcephaly are born with either a normal or reduced head size. Subsequently the head fails to grow while the face continues to develop at a normal rate, producing a child with a small head. As the child grows older, the smallness of the skull becomes more obvious. Development of motor functions (the many parts of our bodies that work together to enable us to act and move) and speech may be delayed. Hyperactivity (excessive restlessness and movement) and mental retardation are common occurrences, although the degree of each varies. Convulsions (seizures) may also occur. Motor ability varies, ranging from clumsiness in some to spastic quadriplegia in others. In general, life expectancy for individuals with
microcephaly is reduced and the prognosis for normal brain function is poor. Generally there is no specific treatment for microcephaly. Toby’s head is currently 46cms – Toby's head was 35cms and on the 25th centile when he was born unfortunately within 12 weeks he fell off the chart. His head has only grown 11cms since birth. Which consists of 8cms growth within the first year and 3cms growth over the following years.
microcephaly is reduced and the prognosis for normal brain function is poor. Generally there is no specific treatment for microcephaly. Toby’s head is currently 46cms – Toby's head was 35cms and on the 25th centile when he was born unfortunately within 12 weeks he fell off the chart. His head has only grown 11cms since birth. Which consists of 8cms growth within the first year and 3cms growth over the following years.
Global Development Delay
Babies are usually born programmed to learn important skills such as speaking, socialising or walking in predictable sequences of stages. There are well-established average ages for when these stages of skill
development occur. All the above stages of skill development are known as developmental milestones. A child with developmental delay has delayed achievement of one or more developmental milestones. A child with global developmental delay is one who is delayed in achieving milestones within most, if not all, of these development domains. The prevalence of global developmental delay is estimated to be five to ten percent of the childhood population.
development occur. All the above stages of skill development are known as developmental milestones. A child with developmental delay has delayed achievement of one or more developmental milestones. A child with global developmental delay is one who is delayed in achieving milestones within most, if not all, of these development domains. The prevalence of global developmental delay is estimated to be five to ten percent of the childhood population.
Low white matter and myelin levels in Brain
White matter makes up parts of the brain and spinal cord and facilitates communication between gray matter and the rest of the body. White matter is made up primarily of axons of nerve cells and full of myelin. Myelin is the fatty sheath that covers neurons (similar to the insulation that covers electrical wires). An analogy of how white matter and gray matter works together is similar to how a computer’s central processing unit and cables work together. In this analogy, gray matter is the CPU and white matter the cables connecting the CPU to other parts. Ideally we would like Toby to try Stem Cell therapy before he reaches five to try and encourage the growth of white matter. We are planning on setting up a trust fund for Toby next year and doing more fund raising for both oxygen therapy and Stem Cell Therapy because neither are funded by the NHS.
West syndrome & Epilepsy
West’s syndrome is a disorder of the brain characterised by a form of epilepsy occurring in infants usually under one year of age, a specific EEG pattern, developmental regression and, often, learning disability. It is
estimated that the incidence is approximately 1 in every 5000 births. Compared with other forms of epilepsy, West syndrome is difficult to treat. Statistically, 5 out of every 100 children with West syndrome do not survive beyond five years of age, in some cases due to the cause of the syndrome, in others for reasons related to their medication. Only less than half of all children can become entirely free from attacks with the help of medication. A large proportion (up to 90%) of children suffer severe physical and cognitive impairments, even when treatment for the attacks is successful. This is not usually because of the epileptic fits, but rather because of the causes behind them.I believe Toby suffered from seizures from birth but unfortunately because it was difficult to detect on an EEG he wasn't actually prescribed medication for it until he reached 1 years old.
Toby used to have around 6 seizures a day until he started the Ketogenic diet. Toby was on the Ketogenic for 3 years and had to stop the diet when scans showed it had begun to have adverse effects on his kidneys. Presently Toby only appears to have flair ups of absences, high seizure activity which may last 2 to 3 days and often does not result in a seizure and 3 a grand mal tonic clonic seizures a month. Toby currently takes Topiramate twice daily and takes midazolam when required.
estimated that the incidence is approximately 1 in every 5000 births. Compared with other forms of epilepsy, West syndrome is difficult to treat. Statistically, 5 out of every 100 children with West syndrome do not survive beyond five years of age, in some cases due to the cause of the syndrome, in others for reasons related to their medication. Only less than half of all children can become entirely free from attacks with the help of medication. A large proportion (up to 90%) of children suffer severe physical and cognitive impairments, even when treatment for the attacks is successful. This is not usually because of the epileptic fits, but rather because of the causes behind them.I believe Toby suffered from seizures from birth but unfortunately because it was difficult to detect on an EEG he wasn't actually prescribed medication for it until he reached 1 years old.
Toby used to have around 6 seizures a day until he started the Ketogenic diet. Toby was on the Ketogenic for 3 years and had to stop the diet when scans showed it had begun to have adverse effects on his kidneys. Presently Toby only appears to have flair ups of absences, high seizure activity which may last 2 to 3 days and often does not result in a seizure and 3 a grand mal tonic clonic seizures a month. Toby currently takes Topiramate twice daily and takes midazolam when required.
Spasticity
Spasticity is stiffness in your limbs, which is the result of increased muscle tone. Limbs that are stiffened by Spasticity are more difficult and more tiring to move.
Cortical Visual impairment
ortical visual impairment (CVI) is a form of visual impairment that is caused by a brain problem rather than an eye problem. CVI is also sometimes known as cortical blindness, although most people with CVI are not totally blind.
The person with CVI exhibits variable vision. Visual ability can change from one day to the next but it can also fluctuate from minute to minute, especially when the person is tired.
One eye may perform significantly worse than the other
The field of view may be severely limited.[1] The best vision might be in the centre (like tunnel vision) but more often it is at some other point, and it is difficult to tell what the person is really looking at.
Even though the field of view may be very narrow indeed, it is often possible for the person to detect and track movement. Sometimes a moving object can be seen better than a stationary one. Sometimes it is possible for a person with CVI to see things while moving their gaze around that they didn't detect when stationary.
In viewing an array of objects, people with CVI can more easily see them if they only have to look at one or two at a time. People with CVI also see familiar objects more easily than new ones. Placing objects against a plain background also makes them easier for the person with CVI to see.
Visual processing can take a lot of effort. Often the person has to make a conscious choice about how to divide mental effort between making sense of visual data and performing other tasks. For some people, maintaining eye contact is difficult
It can also be difficult for some people with CVI to look at an object and reach for it at the same time. Looking and reaching are sometimes accomplished as two separate acts: look, then look away and reach.
The term ‘visual impairment’ refers to people with irretrievable sight loss. It does not include those whose sight problems can be corrected by spectacles or contact lenses. The only person who can say what a visually impaired person can and cannot see is that person.
Toby initially appeared blind, however after doing work daily in a darkened room with light objects Toby's tracking and vision seemed to improve. Toby is long sighted. Toby wears glasses. Toby was assessed for the glasses by looking at the way his pupils reacted to light through prisms. Toby is supposed to wear is glasses all the time but he does not because the special school he attends believe he see's better without them.
The person with CVI exhibits variable vision. Visual ability can change from one day to the next but it can also fluctuate from minute to minute, especially when the person is tired.
One eye may perform significantly worse than the other
The field of view may be severely limited.[1] The best vision might be in the centre (like tunnel vision) but more often it is at some other point, and it is difficult to tell what the person is really looking at.
Even though the field of view may be very narrow indeed, it is often possible for the person to detect and track movement. Sometimes a moving object can be seen better than a stationary one. Sometimes it is possible for a person with CVI to see things while moving their gaze around that they didn't detect when stationary.
In viewing an array of objects, people with CVI can more easily see them if they only have to look at one or two at a time. People with CVI also see familiar objects more easily than new ones. Placing objects against a plain background also makes them easier for the person with CVI to see.
Visual processing can take a lot of effort. Often the person has to make a conscious choice about how to divide mental effort between making sense of visual data and performing other tasks. For some people, maintaining eye contact is difficult
It can also be difficult for some people with CVI to look at an object and reach for it at the same time. Looking and reaching are sometimes accomplished as two separate acts: look, then look away and reach.
The term ‘visual impairment’ refers to people with irretrievable sight loss. It does not include those whose sight problems can be corrected by spectacles or contact lenses. The only person who can say what a visually impaired person can and cannot see is that person.
Toby initially appeared blind, however after doing work daily in a darkened room with light objects Toby's tracking and vision seemed to improve. Toby is long sighted. Toby wears glasses. Toby was assessed for the glasses by looking at the way his pupils reacted to light through prisms. Toby is supposed to wear is glasses all the time but he does not because the special school he attends believe he see's better without them.
Talipes (Club foot)
Is a congenital (present at birth) deformity involving one foot or in Toby’s case both. The affected feet appear rotated internally at the ankle. Toby will wear splints for his entire life. Toby has had serial casting twice which was very successful short term. He had botox recently in his left leg but unfortunately it could not be administered deep enough to make a difference to the positioning of his foot however it does seem to have had a positive effect by making his foot less painful when wearing the splint. Toby wears splints during the day.
Strabismus
Strabismus is a disorder in which the two eyes do not line up in the same direction, and therefore do not look at the same object at the same time. Six different muscles surround the eyes and work "as a team" so that both eyes can focus on the same object. In someone with strabismus, these muscles do not work
together. As a result, one eye looks at one object, while the other eye turns in a different direction and is focused on another object. When this occurs, two different images are sent to the brain one from each eye. Toby was not born with this, however after suffering seizures from early on after birth his eyes would roll and one day they did not return to the normal position therefore from about 6 months old Toby wore patches on alternate eyes on alternate days for the first few years before having botox. Toby has had very successful botox twice and I am to let the hospital know when I feel he needs it again. Eventually when the eye muscles have fully developed and he is much older he will have permanent surgery to correct this.
After surgery, the eyes may look straight but vision problems will remain.
together. As a result, one eye looks at one object, while the other eye turns in a different direction and is focused on another object. When this occurs, two different images are sent to the brain one from each eye. Toby was not born with this, however after suffering seizures from early on after birth his eyes would roll and one day they did not return to the normal position therefore from about 6 months old Toby wore patches on alternate eyes on alternate days for the first few years before having botox. Toby has had very successful botox twice and I am to let the hospital know when I feel he needs it again. Eventually when the eye muscles have fully developed and he is much older he will have permanent surgery to correct this.
After surgery, the eyes may look straight but vision problems will remain.
Face sensitivity
Toby has a sensitive face, which leads to the following reactions when eating: gagging (different to choking) and is the bodies way of moving food away from the back of the throat, clamping down and locking onto whatever is in his mouth, tongue pushes food out of the mouth, poor lip closure and vomiting. Toby has struggled to feed since birth, he had a NG tube until he had surgery for a more permanent way of tube feeding which placed through the wall of his abdomen and into his stomach.
Gastroesophageal reflux disease (Resolved March 2017)
Gastroesophageal reflux disease is a condition in which the stomach contents (food or liquid) leak backwards from the stomach into the esophagus (the tube from the mouth to the stomach). This action can irritate the esophagus, causing heartburn and other symptoms.
When you eat, food passes from the throat to the stomach through the esophagus (also called the food pipe or swallowing tube). Once food is in the stomach, a ring of muscle fibers prevents food from moving backward into the esophagus. These muscle fibers are called the lower esophageal sphincter, or LES.
If this sphincter muscle doesn't close well, food, liquid, and stomach acid can leak back into the esophagus. This is called reflux or gastroesophageal reflux. This reflux may cause symptoms, or can even damage the
esophagus.Toby suffers terrible reflux which I believe has got worse since he came off the ketogenic diet. He currently takes medication morning and night for reflux as well as erythromycin half an hour before each feed. The erythromycin is supposed to neutralise the excess gasses. Toby had a fundoplication in March 2017 which has resolved his reflux completely.
When you eat, food passes from the throat to the stomach through the esophagus (also called the food pipe or swallowing tube). Once food is in the stomach, a ring of muscle fibers prevents food from moving backward into the esophagus. These muscle fibers are called the lower esophageal sphincter, or LES.
If this sphincter muscle doesn't close well, food, liquid, and stomach acid can leak back into the esophagus. This is called reflux or gastroesophageal reflux. This reflux may cause symptoms, or can even damage the
esophagus.Toby suffers terrible reflux which I believe has got worse since he came off the ketogenic diet. He currently takes medication morning and night for reflux as well as erythromycin half an hour before each feed. The erythromycin is supposed to neutralise the excess gasses. Toby had a fundoplication in March 2017 which has resolved his reflux completely.
Osteoporosis
The anti convulsants Toby takes daily have caused him to suffer from Osteoporosis.
Osteoporosis is a disease of bones that leads to an increased risk of fracture. In osteoporosis the bone mineral density is reduced, bone microarchitecture is deteriorating, and the amount and variety of proteins in
bone is altered.
Osteoporosis is a disease of bones that leads to an increased risk of fracture. In osteoporosis the bone mineral density is reduced, bone microarchitecture is deteriorating, and the amount and variety of proteins in
bone is altered.
Rotational scoliosis bending to the left
Scoliosis is a medical condition in which a person's spine has a sideways curve. Toby's degree of curve is increasing over time. It is caused by his muscle spasms & cerebral palsy.
Involuntary & Uncoordinated Movements
People with a movement disorder suffer from a breakdown in the normal flow of neurological messages and this leads to involuntary muscle movement.
An involuntary movement occurs when you move your body in an uncontrollable and unintended way.
An involuntary movement occurs when you move your body in an uncontrollable and unintended way.