Dody’s days

This holiday weekend we spent up in Forks, WA visiting my brother Kevin and his new wife Marianne.  My sister and her family were able to join us while we were there.  My parents went to Alaska to see my brother Alex and his wife.  We were all together in one way or another.  It was a great time to visit my brother and see the life that they are beginning to create for themselves.  They do live in a very remote area, but it is so beautiful.  If you are a fisherman, that is the place to live!  We went on a couple of hikes, and went to the nearby beach.  The kids had so much fun playing with their cousins, while the adults stayed up way too late talking, eating too much and playing games.  It was a wonderful time to bond, as we are all caught up in the busyness of our own families’ lives on a day to day basis.  On our way home yesterday, Evan and I decided to get a nasty cold.  I felt it coming on all weekend, and Evan had it a little bit.  But in the car, we both started sneezing and well there it was.  I just got over a sinus infection 2 weeks ago, so I feel a little jipped.  Then to top it off, I decided to throw out my back.  I am not sure how you do that by sitting on your bum riding in a car, but I guess it is not too hard since I managed to do it.  I am thankful I am able to walk around today, but I sure hate the weak spot that I have had in my back since I was 14.  Evan in the meantime came down with a 104 degree fever last night,that finally broke in the middle of the night.  We were supposed to continue on to Bend to see our friend Ryan who is visiting from Cali .  (His Mom lives in Bend )  So this morning we made the call for Evan and I to stay back and not expose everyone, and Grace and David went on their merry way.  They had a beautiful drive enjoying the snowy mountains.  I am glad they are getting some time together, but I sure do miss my girl  (and Daddy too).  I am also sad that I won;t see my dear friend Ryan this time around.  This weekend, as we celebrated Thanksgiving, I was thinking of all of my blessings and what I am thankful for.  Here is my list:

1.  My wonderful husband and the life he provides for me to stay home with our children.
2.  My kids…..it just does not get any better than a 2 year old and a 3 year old that tell you they love you every day.
3.  My home…I may complain about all of the work we have to do to it, but I feel so blessed to be in this home and neighborhood.
4.  Extended family…I am thankful most of them are within driving distance and are still part of our everyday lives.
5.  Overall health of my family.  We may have the typical colds and such, but I am thankful no one is terminally ill.
6.  My wonderful friends who help hold me accountable, and are great listeners.
7.  God!  I can really reflect on my life right now, and know how God continues to bless me, protect me and comfort me.

I hope you all had a wonderful time with your family and friends!

  

After having a week to process everything going on…..I am beginning to feel more at peace.  I know life is going to be harder for Evan (and for the rest of us), but that is the hand we were dealt.  I know that we have the ability to fight for Evan and make sure he gets the best care possible.  I think God is teaching me a lesson in patience right now…which is something I need.  I am learning to cherish all of the little moments right now, and I am so thankful for this loving little boy that has been given to us.  He will never know anything else, since all of his memories really are starting now.  I just need to make sure that whatever he experiences we can always put a positive light on it for him.  We will be meeting with a cranio facial speech therapist the next 2 tuesdays, and she will begin to point us in the right direction to have Evan evaluated in the other areas of his body that could be affected by this.  Right now I feel like I can take any kind of news…but am still hoping for the best.  Thank you all for your outpouring of support and prayers. 

Since I have spent the majority of my adulthood married, I feel like I have gotten a taste of life and what it is really about in various situations that David and I have been faced with.  But in the past three years since becoming a mother, I think I have learned the most.  God has a sense of humor most of the time.  He shows me daily that I can’t control my children 24/7 and I just have to do the best I can in a given moment.  As much as I like to be in control, I know that God really is in control, and I must be patient to let him do his work in me and through me.  I know in my heart that I can handle what life throws at me.  Knowing that in your heart and letting go of it are two different things.  This last week we found out that Evan has a birth defect called microdeletion of chromosome 22 or velocardio facial syndrome.  This was hard to take, since it is no longer a little boy with a speech problem and ear infections.  It is much, much more.  As a mother you wonder what you did wrong, and all you want to do is protect your child from any pain that they will have in their life.  There is so much that can happen with this syndrome, which I think is what scares me the most.  I will post below about the syndrome.  I have been spending countless hours since learning of this, researching and finding out more.  I want to be prepared for whatever life throws at us.  I think once we see the genetic counselor, we will have more answers and be more prepared for the future.  I am holding on to hope that Evan is not an extreme case, and he will not have any other health issues. 

Passage Jeremiah 29:11:
¹¹ For I know the plans I have for you,” declares the LORD, “plans to prosper you and not to harm you, plans to give you hope and a future.

What is velocardiofacial syndrome?

Velocardiofacial syndrome (VCFS) is a disorder that has been associated with over thirty different features. (A disease or disorder that has more than one identifying feature or symptom is a syndrome.) The name velocardiofacial syndrome comes from the Latin words “velum” meaning palate, “cardia” meaning heart and “facies” having to do with the face. Not all of these identifying features are found in each child who is born with VCFS. The most common features are cleft palate (opening in the roof of the mouth), heart defects, characteristic facial appearance, minor learning problems and speech and feeding problems.

Although VCFS is the most common syndrome associated with a cleft palate, it was not recognized until 1978, at which time Dr. Robert J. Shprintzen of the Center for Craniofacial Disorders at the Montefiore Medical Center in Bronx, New York, described 12 children with the disorder. Most or all of these first 12 children were born with a cleft palate, heart defects and similar faces. VCFS may also be known as Shprintzen syndrome, DiGeorge syndrome, Craniofacial syndrome or Conotruncal Anomaly Unusual Face Syndrome.

What causes velocardiofacial syndrome?

The cause of VCFS is unknown. What is known is that it is a genetic disorder. This means that there is a problem with one or more of the genes which are found in every cell of the body that contain the instructions that tell cells what to do. Although the gene or genes that cause VCFS have not been identified, most of the children who have been diagnosed with this syndrome are missing a small part of chromosome 22. Chromosomes are threadlike structures found in every cell of the body. Each chromosome contains hundreds of genes. A human cell normally contains 46 chromosomes (23 from each parent). The location or address of the missing segment in individuals with VCFS is 22q11. As a result of this deletion, some of the genes are absent from this chromosome.

Scientists and physicians know that VCFS is an autosomal dominant disorder.  This means that only one parent needs to have the gene for VCFS in order to pass it along to their children. When one of the parents has VCFS the chance of their children having the syndrome is 1 in 2 or about 50/50 for each birth. Research has revealed, however, that VCFS is inherited in only about 10 to 15 percent of the cases.  In most instances, neither of the parents has the syndrome or carries the defective gene and the cause of the deletion is unknown.

What are the features of velocardiofacial syndrome?

Despite the involvement of a very specific portion of chromosome 22, there is great variation in the features of this syndrome. At least 30 different problems have been associated with the 22q11 deletion. None of these problems occur in all cases. The list includes: cleft palate, usually of the soft palate (the roof of the mouth nearest the throat which is behind the bony palate); heart problems; similar faces (elongated face, almond-shaped eyes, wide nose, small ears); learning difficulties; eye problems; feeding problems that include food coming through the nose (nasal regurgitation) because of the cleft palate; middle-ear infections (otitis media); hypoparathyroidism (low levels of the parathyroid hormone that can result in seizures); immune system problems which make it difficult for the body to fight infections; weak muscles; short height; curvature of the spine (scoliosis); and tapered fingers. Children are born with these features which do not worsen with age.

What kinds of problems could my child have?
In addition to the physical characteristics common to VCFS, your child could have some of the following problems:

• multiple abnormalities of the heart
• learning disabilities in one or more areas
• hearing loss
• problems with speech
• leg pain
• extremes of behavior

Will my child need surgery?
Depending on the severity of Velocardiofacial Syndrome, your child may have some or all of the following surgeries:

• repair of the cleft palate
• repair of the lower jaw
• reconstructive surgery on the ear
• surgery to repair other facial features

After many tests at OHSU, we have found out that Evan has VPI.  What is VPI?  Well I will put the internets version of it below. Evan has had 2 sessions of speech therapy thus far.  They both have gone well.  I couldn’t ask for a better speech therapist.  She is understanding, and really gets Evan.  She knows when he has had enough, and really fights for him to get all of the care he possibly can.  He will be evaluated again in a couple of months to see when he may need his surgery or retainer to correct his soft pallet.  I never knew any of this existed before now, so I am trying to educate myself as much as possible to do everything we can for him.  I also found out that all of his middle ear infections are caused by this insufficiency (most likely).  The infections may continue to be a battle for awhile until we can get everything corrected.  His current tubes have fallen out and will possibly need to be replaced this winter.  He has another appt. scheduled with his ENT in a couple of weeks.  Despite all of this, we are all doing well.  Grace is having a great time in preschool.  She always has a new song for us.  I was able to assist with her harvest party at school.  I praise those teachers who can be with these little ones and keep them under control.  I don’t think I would ever have the patience to be a preschool teacher.  We went to our church harvest party last Sunday night, and there were firemen and a fire truck there.  Evan loved the fire truck but wouldn’t get in to take a look.  Grace however, has already fallen for men in uniforms and gave them a hug and climbed in to take a look.  She told me that firefighters were extinct.  I think she keeps getting that confused with dinosaurs…both she learned about in school.  David is finishing up his first 2 classes this weekend.  He is studying a lot and spends most evenings reading or in front of a computer writing a paper.  He is staying focused and we are both looking at the end result in 2 years…an MBA.

 

Now for VPI:

Definition
Velopharyngeal insufficiency is the improper closing of the velopharyngeal sphincter (soft palate muscle) during speech characterized by an acute nasal quality of the voice.
Description
At the back of the mouth is a circle of structures that include the tonsils, the tongue, and the palate. During speech, this apparatus must close off the nose for proper articulation of the explosive consonants “p,” “b,” “g,” “t,” and “d.” If it does not close, there is a snort sound produced through the nose. Improper function of this structure also produces a nasal tone to the voice.
Causes and symptoms
There are three main causes for this defect:

• Cleft palate is a congenital condition, producing a defect in the palate that allows air to escape upward during speech.
  
• If tonsil and adenoid surgery is done improperly, velopharyngeal insufficiency may result. The occurrence rate is approximately one in every 2,000-3,000 tonsillectomies.
  
• Nerve or muscle disease may paralyze the muscles that operate the velopharyngeal sphincter.
  

The primary symptom is the speech impediment. Some people develop a change in their speaking pattern or a series of facial grimaces to try to overcome the difficulty. If the condition is acute, regurgitation through the nose may occur.
Diagnosis
Examination of the velopharyngeal sphincter through ultrasound scans, fiber-optic nasopharyngoscopy, and videofluoroscopy will reveal the extent of velopharyngeal insufficiency. Speech and velopharyngeal sphincter movement are compared to make the diagnosis.
Treatment
Velopharyngeal insufficiency is treated with a combination of surgery and speech therapy. There are several surgical procedures that can be performed to correct the physical malfunction. They include:

• Pharyngeal flap procedure that moves the skin flap from the pharynx to the soft palate.
  
• Palatal push-back that separates the hard and soft palate in order to lengthen the soft palate.
  
• Pharyngoplasty that lengthens the soft palate by turning the pharyngeal skin flaps.
  
• Augmentation pharyngoplasty that inserts an implant into the pharyngeal wall to enlarge it, thus narrowing the velopharyngeal opening.
  
• Velopharyngeal sphincter reconstruction.
  

Prognosis
The combination of surgery to correct the insufficiency and speech therapy to retrain the voice successfully alleviate velopharyngeal insufficiency.