Sunday, October 31, 2010

Sunday Funday

Today Cody and I took the boys to Antioch church. It was our first time there and we loved it. It was so incredible to be in a room full of young people worshiping God. I don't think you could have been there and not felt God's presence. We love our home church High Point, but I think we will definitely be visiting Antioch again. The boys went to the childrens area which was great in itself. I think they both really liked it. Cameron seemed full of happiness when we picked him up-and Caden was just plain full of it! :)

I hope everyone is having a wonderful Sunday and a fun Halloween. We are meeting up with Gigi and Pop Pop for dinner and then heading to the Zoo Boo this evening. I will be sure to share pictures of it soon and of Caden's bday party yesterday.

Here are the photos and videos I promised from therapy last week that I snapped up with my phone. Enjoy :)

Swinging at therapy


He wasn't so sure about the ball pit.

Smart boy using his hands.


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Be strong and courageous. Do not be afraid or terrified because of them, for the LORD your God goes with you; he will never leave you nor forsake you."
Deuteronomy 31:6

Wednesday, October 27, 2010

Pelizaeus-Merzbacher

I have been trying to do a bit of research to learn about the different types of white matter diseases so that I can be prepared and at least somewhat knowledgeable the next time we speak with our doctor. Looking up these diseases can be quite heartbreaking, but I feel like it is necessary so that I can be proactive with Cameron's care.

There isn't a lot out there on white matter diseases-or at least there isn't when you aren't entirely sure what you are looking for. All I know right now is that Cameron was diagnosed with Leukodystrophy and that there are 34 different forms of it. Since we are still waiting on our results from the Pelizaeus-Merzbacher test I thought I should study up on it.

Here is some useful information I have come across:

Pelizaeus-Merzbacher

Basic Facts About Pelizaeus-Merzbacher Disease and Spastic Paraplegia Type 2
Pelizaeus-Merzbacher Disease (PMD) and Spastic Paraplegia Type 2 (SPG2) are part of a spectrum of disease with varying severity. There are four general classifications with this spectrum of diseases. In order of severity, these are connatal PMD, classic PMD, complicated SPG2, and pure SPG2. Symptoms of each will be discussed below.
What causes PMD and SPG2?
These diseases are caused by a defect in a gene called proteolipid protein (PLP). PLP is involved in transmitting information between cells. It is the most abundant protein present in myelin (see our general leukodystrophy fact sheet for more information on myelin), and is very important for the proper functioning of the nervous system.
How are PMD and SPG2 inherited?
PMD and SPG2 are X-linked disorders (see our fact sheet on genetic inheritance for extensive information on this). Briefly, this means that the gene responsible for the disorder (in this case, PLP) is present on the X chromosome. Women have two X chromosomes, so if one X chromosome has a defective gene, they can compensate for that because they have a good copy of that gene on their other X chromosome. However, because men only have one X chromosome, they only have one copy of each gene. If a gene is defective, they do not have another copy to compensate.
Because of this, men are much more likely to have PMD and SPG2. There are some cases of the diseases in women, but they are less frequent and generally milder forms of the disease.

How are these disorders diagnosed?
Certain symptoms and abnormalities suggest a diagnosis of Pelizaeus-Merzbacher Disease (PMD) and Spastic Paraplegia Type 2 (SPG2).  Because the gene responsible for these disorders is known, genetic screening techniques can be used to confirm a diagnosis. In addition, these same techniques can be used for prenatal diagnosis, as well as identification of women who carry the disease and are therefore more likely to have affected children.  This allows couples to make informed decisions about having a family.
What are the symptoms of Pelizaeus-Merzbacher Disease and Spastic Paraplegia Type II?
As mentioned above, this spectrum encompasses several disorders with varying degrees of severity. These are connatal PMD, classic PMD, complicated SPG2, and pure SPG2. Each is addressed separately below.
Connatal PMD
Connatal PMD is the most severe of this spectrum of disorders. Patients show a delayed development and severe neurological symptoms. Patients may have feeding problems, difficulties with breathing, and the prominent muscle spasms often lead to difficulties in patient care. Seizures may be present. Death usually occurs within the first decade of life. Symptoms are present at birth, and may include many of the following:
  • Nystagmus: involuntary movements of the eyes
  • Hypotonia: lack of muscle tone
  • Ataxia: disturbance of gait (walking) or coordination
  • Severe spasticity: tendency to have involuntary muscle contraction
  • Stridor: a harsh vibrating sound heard during respiration when the air passage is blocked
  • Pharyngeal weakness: the pharynx is the voice box; pharyngeal weakness therefore results in speech difficulties
  • Seizures
  • Impaired cognition
  • Lack of development of speech

Classic PMD
Early symptoms include muscle weakness, involuntary movements of the eye, and delay in motor development that can be seen within the first year of life. Spastic contractions, difficulties with walking, and aimless muscle movements develop later. Despite the prominent developmental delay of motor skills, patients often show slow development in the first decade of life, and then slowly deteriorate until death in mid-adulthood.
  • Nystagmus: involuntary movements of the eyes
  • Fail to develop head control
  • Tremors of the head
  • Bradylalia: abnormal slowness or deliberation in speech
  • Ataxia: disturbance of gait (walking) or coordination
  • Choreoathetosis: a condition marked by aimless muscle movements and involuntary motinos
  • Tremor of upper limbs
  • Spastic contractions of lower limbs
  • Mild dementia
  • Dystonia: abnormal muscle tone, with sustained muscle contractions, can typically contort the limbs in an abnormal posture (such as wry neck or writer's cramp).
  • Impaired cognition
SPG2
Patients with SPG2 show normal motor development in the first year of life, but between 2 and 1 years of age, progressive weakness and involuntary muscle contractions occur in the lower limbs. In some cases some of the symptoms of PMD occur. These tend to be less prominent in SPT2 than they are in PMD. These symptoms are listed below with definitions as necessary. In some cases, there is neurological involvement, and mental retardation may be present. Cases where there is involvement of the brain are termed “complicated” PMD, while cases of PMD that do not have neurologic complications are termed “pure” PMD.
  • Nystagmus: involuntary movements of the eyes
  • Optic atrophy: muscle wasting of the eye: this can result in vision difficulties
  • Ataxia: disturbance of gait (walking) or coordination
  • Dysarthria: difficulty pronouncing words, typically with thick or slurred speech
  • Dystonia: abnormal muscle tone, with sustained muscle contractions, can typically contort the limbs in an abnormal posture (such as wry neck or writer's cramp).
Female heterozygotes
Female heterozygotes are women who carry one copy of the defective gene and one good copy of the gene. Because they have the good copy of the gene, these women may not show any symptoms. However, in some cases symptoms have been observed, though the particular symptoms and course of the disease are quite variable. Next we describe a few of these cases.
Female heterozygotes have been found with an early-onset but mild form of PMD or SPG2; in these cases, the symptoms have faded over time. In families that include men with the severe forms of these diseases, some of the female heterozygotes have been observed to have transient neurologic symptoms in childhood, but do not develop PMD or SPG2. Strangely, in families with men with one of the milder forms of these diseases, some of the female carriers in the family have been observed to have a late-onset form of PMD or SPG2.
What is the treatment for PMD and SPG2?
There is no treatment for PMD or SPG2; treatment is currently symptomatic and supportive. This may include medication for seizures and the stiffness or abnormal muscle contractions that are a problem for many PMD patients. 
How is scientific research on PMD and SPG2 progressing towards improvement in treatment or diagnosis?
Scientific research has led to the identification of the gene involved in PMD and SPG2. This has allowed scientists to develop better methods of diagnosing the disease, and has provided families with the option of prenatal screening and improved genetic counseling. As a result of the identification of the gene, many animal models for these diseases have been developed, and we hope that studies of these models may lead to new treatments. 
Other Clinical Names for PMD and SPG2
  • SPPX2 (note that this is specifically a term referring to SPG2)
  • Perinatal sudanophilic leukodystrophy (note that this term specifically refers to PMD) 
The prevalence of Pelizaeus-Merzbacher disease is estimated to be 1 in 200,000 to 500,000 males in the United States. This condition rarely affects females.

Making therapy fun

Cameron attends occupational and physical therapy at Hope Therapy. We go Monday for OT, Wednesday for OT and PT and Friday for OT and PT as well. So, obviously we spend a lot of time there. If your child or a child you know needs therapy I highly recommend them. Everyone there is just so amazing. We have been blessed with wonderful therapists. The thing I have appreciated the most about this place is how much they care for Cameron. It's not just work for them. They love what they do and it shows.

Today Cam went for OT and PT and his therapists told me that he did great. They are both very optimistic and think he may even crawl soon. Even though we are worried about what the doctors say about Cameron becoming paralyzed it seems like our little guy just isn't quite ready to give up.

Enjoy these videos of my little one having fun with his PT Haila.

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Cameron has been doing great these past few days. He is still having a difficult time teething, but he has been eating well and enjoys playing around the house in his Bronco Pony (special walker) that we are borrowing. Big brother Caden loves it when Cam is in his walker because he can then ride his tricycle along side and they both giggle like crazy to one another. I love seeing them laugh together.

Tuesday, October 26, 2010

Donations

I have been getting asked by many people how they can make donations to help Cameron. Thank you all so much for that. I have truly been touched by everyone's concern.

I have set up a chipin account for Cameron. Any donations that you feel set in your heart to make will be greatly appreciated no matter how small. Please do not feel obligated to give. Your thoughts and prayers are just as important and needed.

All donations will go towards helping to pay for Cameron's medical bills and doctors appointments and maybe even one day we can purchase him his very own gait trainer.

If you would like to donate you may click here. Or go to the widget on the side of this page.

Monday, October 25, 2010

Photo Update

I finally got around to loading a ton of photos onto the computer so I thought I would share.

At the ranch.

Sweet brother kisses before his first EEG.

All cried out and sleeping during his first EEG.

One of his favorite spots.

Caden getting ready for Halloween.

Caden and I getting ready for our RV trip for Cameron's doctors appointments.

The EEG Camera monitoring system for Cam's 4 hour EEG.

Getting all set and being such a big boy about it.

Sweet smiles.

Nothing slows my baby down.

Sweet Daddy watching over Cam.

He makes a handsome mummy.

Trying to make it through the four hours!

The boys watching a movie in the RV.

When Cameron woke from all of his tests (MRI, MRS, LP)

Finally getting some fluids.

Loving on big brother.

He loved the corn box! :)

Brenton, Cameron and Caden.

Beautiful Boy.

Fun duck races.

Great Grandma loving on her babes.


Cameron is doing well. He is having a hard time cutting teeth, but we are making it! He had OT (occupational therapy) and he did great. We were blessed with amazing therapists and that makes a world of difference.

Caden recently began going to gymnastics and he absolutely loves it. It is so great to see him thriving and enjoying himself.

We are currently waiting to get appointments with a couple of different specialists, but no news yet.

Feel free to ask any questions and I will do my best to answer back. :)

Please continue to pray for Cameron and our family.

Psalm 31:7
I will be glad and rejoice in your love, for you saw my affliction and knew the anguish of my soul.

Friday, October 15, 2010

Blood Tests

I spoke with Cameron's neurologist yesterday afternoon for quite a while. He told me that he had most of the blood test results in and that they indicated that Cameron does not have Metachromatic Leukodystrophy. Now we are waiting on the results from the test for Pelizaeus-Merzbacher. That particular test can take up to 28 days to complete.

Dr. Foster told me that we need to see an Ophthalmologist that specializes in metabolic disease so that we may be able to figure a few more things out. He also told me that the damage on Cameron's MRI is very extensive and that Cameron has almost no white matter at all. He told me that based on the spastic movements of Cameron's arms that he thinks he will begin having more difficulty eating and keeping food down soon. Dr. Foster also told me that we may never know the name of Cameron's disease. He said that these white matter diseases are very rare and difficult to diagnose.


This is all very confusing to us, but we are doing our best to maintain a normal routine for the boys. We took Cameron to our Wednesday night church service this week and we had the nicest people pray for him. We feel so blessed to have so many behind us and praying for a miracle.

2 Corinthians 4:17-18
For our light and momentary troubles are achieving for us an eternal glory that far outweighs them all. So we fix our eyes not on what is seen, but on what is unseen. For what is seen is temporary, but what is unseen is eternal.

John 14:1-2
Do not let your hearts be troubled. Trust in God: trust also in me.

Wednesday, October 13, 2010

Thank You

I just wanted to take a moment to say thanks to all of you wonderful friends and family out there reading our story. I have been getting calls and emails constantly about prayers for Cameron and it is so deeply appreciated.

This is a difficult time for our family, but we will make it through together. It has been a struggle for me to figure out how I am supposed to just go on with my days like everything is OK when it is so far from it.

I thought I would share a few scriptures that are helping me through it.


1 Thessalonians 5:18
give thanks in all circumstances, for this is God's will for you in Christ Jesus.

Jeremiah 17:14
Heal me, O Lord, and I will be healed: save me and I will be saved, for you are the one I praise.

Ephesians 3:16-17
I pray that out of his glorious riches he may strengthen you with power through his Spirit in your inner being, so that Christ may dwell in your hearts through faith. And I pray that you, being rooted and established in Love...

Isaiah 40:29
He gives strength to the weary and increases the power of the weak.

Friday, October 8, 2010

Cameron's Diagnoses

Yesterday Cody Cameron and I took a trip to Houston to speak with Cameron's doctors about his condition and all of his test results. Cameron has been vomiting more each day and seems to be uncomfortable. The doctor had most of the results in already thankfully.

Cameron's MRI showed much more damage than the last one from 6 months ago which tells the doctor that he does indeed have a progressive brain disease. His white matter is disappearing and his corpus callosum is very thin. The white matter is what insulates your brain and the corpus callosum is what connects the two hemispheres of the brain. You can read more about that here.

Dr. Foster told us that Cameron has a genetic disease called Leukodystrophy. It is fatal and there is no cure or treatment. There are 34 different kinds of Leukodystrophy so yesterday we began more testing to try and determine which one Cameron has. Dr. Foster also suggested that we consult a gastro doc soon because he fears that Cameron will be needing a feeding tube because of the vomiting and said it was inevitable.

The doctor thinks that Cameron most likely has Metachromatic Leukodystrophy or MLD:

Late Infantile MLD
After a period of apparently normal growth and development, skills such as walking and speech may begin to deteriorate. Once clinical symptoms become noticeable, they often appear to progress rapidly over a period of several months, with alternating periods of stabilization and decline. The child eventually becomes bedridden, unable to speak or feed independently. There may be seizures at this stage, which eventually disappear.  Contractures are common and apparently painful. The child is still able to smile and respond to parents at this stage, but eventually may become blind and largely unresponsive. Swallowing eventually becomes difficult and a feeding tube becomes necessary. With modern treatment and care, the child may survive for 5-10 years. Death generally occurs as the result of an infection such as pneumonia, as opposed to being a direct result of the MLD. Other symptoms that may be encountered are listed below, along with definitions of the medical terminology as necessary.
  • Developmental delay
  • Hypotonia: decreased muscle tone
  • Esotropia: cross-eyed
  • Psychomotor regression
  • Clumsiness
  • Spasticity: increased reflexes
  • Nystagmus: type of abnormal eye movement
  • Weakness
  • Decreased speech
  • Seizures
  • Ataxia: loss of the ability to coordinate muscular movement
  • Quadriplegia: paralysis from the neck down
  • Eventual absence of voluntary functions 
  • Worldwide, 1 in every 40,000 to 160,000 people have metachromatic leukodystrophy. In certain populations, the prevalence can be much higher.
We have heavy hearts as we are trying to cope with this news. Please pray for our family. I can't imagine life without our sweet little angel.