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William's Conditions 

Congenital hypertonia

is a condition marked by increased muscle tone present from birth. This means there is an abnormal and heightened level of muscle stiffness or tension, impacting various parts of the body. The heightened muscle tone can lead to challenges in motor skills and coordination, affecting activities like crawling, walking, or fine motor tasks. The causes of congenital hypertonia can vary, including neurological disorders or conditions affecting the central nervous system. It's a general term, and specific characteristics and severity can differ among individuals. Early diagnosis and intervention, such as physical therapy, are crucial for managing congenital hypertonia to improve mobility and overall quality of life.

Global developmental delay (GDD)

is a term used to describe a condition in which a child does not reach developmental milestones within the expected age range across various areas of functioning. These areas typically include cognitive, motor, communication, social, and adaptive skills. Global developmental delay is often diagnosed in children under the age of five when there is a significant lag in achieving developmental milestones compared to their peers.

Chondrodysplasia punctata

is a rare genetic disorder characterized by skeletal abnormalities, particularly affecting the development of cartilage and bone. The term "chondrodysplasia" refers to abnormal cartilage development, while "punctata" indicates the presence of characteristic dot-like spots seen on X-rays.

Common features of chondrodysplasia punctata may include short stature, joint deformities, and facial abnormalities. The characteristic punctate spots seen on X-rays are caused by calcium deposits in the cartilage.

This condition is typically caused by genetic mutations, and its severity can vary. Some forms of chondrodysplasia punctata may be associated with intellectual disabilities, respiratory issues, or other health complications.

Management of chondrodysplasia punctata involves addressing specific symptoms and providing supportive care. Treatment may include physical therapy, orthopedic interventions, and addressing associated health issues. The prognosis varies depending on the severity and specific form of the condition. Early diagnosis through genetic testing is crucial for appropriate management and intervention.

Unspecified Degenerative Disease of the Nervous System 

is A degenerative disease of the nervous system refers to a condition in which there is a progressive deterioration or loss of structure and function of nerve cells or tissues within the nervous system over time. These diseases typically involve the gradual decline of neurons, leading to various neurological symptoms and impairments.

Pachygyria

is a neurological condition characterized by abnormal brain development, specifically affecting the cerebral cortex—the outer layer of the brain responsible for various cognitive functions. The term "pachygyria" literally means "thick gyri," referring to the folds or convolutions of the brain's surface.

Key features of pachygyria include:

  1. Abnormal Cortical Folding: In individuals with pachygyria, the usual intricate folding of the cerebral cortex is disrupted, leading to fewer and broader gyri (convolutions) than normal. This results in a smoother appearance of the brain surface.

  2. Impaired Brain Function: Pachygyria can lead to a range of neurological symptoms and developmental delays. The severity of symptoms can vary widely among affected individuals. Common manifestations include intellectual disabilities, developmental delays, seizures, and motor impairments.

  3. Causes: Pachygyria is typically a result of abnormal neuronal migration during fetal brain development. Neuronal migration is the process by which nerve cells (neurons) move to their designated locations in the developing brain. Disruptions in this process can lead to the formation of a structurally abnormal cerebral cortex.

  4. Diagnosis: Pachygyria is often identified through imaging studies such as magnetic resonance imaging (MRI) of the brain, which can reveal the characteristic changes in cortical structure.

  5. Treatment: There is no cure for pachygyria, and treatment focuses on managing symptoms and providing supportive care. This may include interventions such as physical therapy, occupational therapy, speech therapy, and antiepileptic medications to control seizures

It's important to note that pachygyria is a rare condition, and its impact on an individual's abilities and functioning can vary. The diagnosis and management of pachygyria often involve a multidisciplinary approach with input from neurologists, developmental pediatricians, and other specialists to address the diverse needs of affected individuals.

Schizencephaly

is a rare congenital brain malformation characterized by abnormal clefts or cleft-like openings in the cerebral hemispheres—the two large halves of the brain. These clefts extend from the surface of the brain to deeper structures and are lined by abnormal gray matter. 

Key features of schizencephaly include:

  1. Cleft Formation: Schizencephaly is defined by the presence of clefts that extend from the brain surface (pial surface) into the interior of the cerebral hemispheres. The clefts can be unilateral (affecting one hemisphere) or bilateral (affecting both hemispheres).

  2. Gray Matter Abnormalities: The clefts are typically lined by abnormal gray matter, and there may be variations in the severity of the structural abnormalities within the brain tissue.

  3. Symptoms and Impairments: The clinical presentation of schizencephaly can vary widely. Common symptoms and impairments may include developmental delays, intellectual disabilities, motor deficits, and seizures. The severity of these symptoms depends on factors such as the size and location of the clefts.

  4. Causes: The exact causes of schizencephaly are not fully understood, but it is believed to result from disruptions in the normal development of the brain during fetal development. Genetic factors and environmental influences may play a role.

  5. Diagnosis: Diagnosis is typically made through imaging studies such as magnetic resonance imaging (MRI), which can reveal the characteristic clefts and associated brain abnormalities.

  6. Treatment: Management of schizencephaly is focused on addressing associated symptoms and providing supportive care. Treatment may include physical therapy, occupational therapy, speech therapy, and medications to control seizures.

It's important to note that schizencephaly is a rare condition, and its impact on an individual's functioning can vary.

Microcephaly

is a medical condition characterized by an abnormally small head size in relation to an individual's age and sex. This condition typically indicates an underdeveloped brain, and it can result in intellectual disabilities and developmental delays.

Polymicrogyria

is a rare congenital brain malformation characterized by an excessive number of small and abnormally formed gyri (convolutions) on the surface of the cerebral hemispheres—the two large halves of the brain. The term "polymicrogyria" literally means "many small gyri."

Key features of polymicrogyria include:

  1. Abnormal Gyri: Instead of the usual complex folding seen in a typical brain, individuals with polymicrogyria have numerous small and simplified gyri. This results in a distinctive appearance of the brain surface.

  2. Location and Extent: Polymicrogyria can affect one or both hemispheres of the brain and may be localized to specific regions or involve more extensive areas. The severity and distribution of polymicrogyria can vary widely among affected individuals.

  3. Symptoms and Impairments: The clinical presentation of polymicrogyria varies, and individuals may experience a range of symptoms, including developmental delays, intellectual disabilities, seizures, and motor impairments. The specific symptoms depend on the location and extent of the malformation.

  4. Causes: The exact causes of polymicrogyria are not fully understood, but it is believed to result from disruptions in the normal development of the brain during fetal development. Genetic factors, prenatal insults, or other environmental influences may contribute to its occurrence.

  5. Diagnosis: Polymicrogyria is typically diagnosed through imaging studies such as magnetic resonance imaging (MRI), which can reveal the characteristic abnormal folding of the cerebral cortex. Genetic testing may also be conducted to identify underlying genetic factors.

  6. Treatment: Management of polymicrogyria is generally supportive and focused on addressing associated symptoms. Treatment may include physical therapy, occupational therapy, speech therapy, and medications to control seizures.

It's important to note that polymicrogyria is a complex condition with significant variability in its presentation. The impact on an individual's functioning depends on factors such as the extent and location of the malformation.

Dysphagia

is a medical term that refers to difficulty or discomfort in swallowing. 

 

Note: By God's miraculous grace William can swallow. He is very delayed with eating, but he is able to take a bottle, so we are extremely hopeful. We are praying for a great feeding therapist to help us make some headway in this area. 

Plagiocephaly

refers to the asymmetry or flattening of the shape of the head, typically characterized by a flat spot on one side.

 

Note: William was diagnosed with this condition due to his abnormal head shape. They wanted to size him for a helmet, but we started doing cranial sacral therapy and that alone has made a huge difference in the shape of William's head! 

Muscle spasms and spasticity

are related terms that refer to involuntary muscle movements, but they involve different underlying mechanisms and have distinct characteristics.

 

Note: In March 2023, we first noticed William contracting his muscles in a way that certainly wasn't normal. When he tried to move a single part of his body (for example, his arm), his entire being would contract and shake. We didn't know what it was, so we had an EEG done in April. We are praising Jesus that the movements were not seizures, as William is at a high risk for them.

Abnormal Findings of the Central Nervous System
Unknown at this time.  

CVI: Level 5 out of 10

Cortical Visual Impairment (CVI) is a condition that involves visual dysfunction due to damage or abnormal development of the visual centers in the brain's cortex. Unlike ocular or optic nerve impairments, CVI originates in the brain, affecting the processing and interpretation of visual information.

Key characteristics of Cortical Visual Impairment may include difficulty recognizing and interpreting visual stimuli, challenges with visual attention, and variations in visual responses depending on environmental factors. Individuals with CVI often exhibit a range of visual behaviors and may benefit from specific interventions tailored to their unique visual processing difficulties. It is a common cause of visual impairment in children and can have varying degrees of impact on visual functioning.

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Note: While William's vision has dramatically improved, it was actually his inability to follow/track that eventually lead us to the discovery of his conditions. 

Personal Note

These diagnoses have been assigned to William through MRIs, genetic testing, and symptoms. However, William is NOT defined by his diagnoses. He is so much more than a collection of medical labels. He is a precious baby boy designed by God with a unique purpose. While we could spend a lifetime questioning God or attempting to comprehend the intricate workings of the brain, we can no more understand the way lightning moves or truly grasp the concept that it answers ONLY to God. In the face of these uncertainties, we choose to trust and believe that God will use ALL things for good, even those which we can't comprehend. True peace can only be found in the willingness to be molded, like clay, by our most faithful and loving potter.

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"For you formed my inward parts; you knitted me together in my mother's womb. I praise you, for I am fearfully and wonderfully made. Wonderful are your works; my soul knows it very well. My frame was not hidden from you, when I was being made in secret, intricately woven in the depths of the earth."

- Psalm 139: 13-16

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"And we know that for those who love God all things work together for good, for those who are called according to his purpose."

-Romans 8: 28

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“Can you lift up your voice to the clouds,
   that a flood of waters may cover you? Can you send forth lightnings, that they may go
   and say to you, ‘Here we are’? Who has put wisdom in the inward parts
   or given understanding to the mind?"

-Job 38: 34-36

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 "But now, O LORD, you are our Father; we are the clay, and you are our potter; we are all the work of your hand."

-Isaiah 64:8

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