Wednesday, April 29, 2009
She is doing pretty well in "preschool". This week the play therapist (who knew you needed a therapist to play!) told me she did really well drawing with a bingo blottter and was holding and using a crayon appropriately for her age. She is also pleased with how well Haley is pointing at everything in sight. We are having a hard time getting her used to the schedule though. It is hard to work out a schedule that makes sense when we have so much going on with all of the other therapies.
Speaking of therapy, she is doing really well in OT and PT. She is taking steps while the therapist holds her arms. She steps better with her right leg than left leg. We are still a long way away from walking, but she is starting to get the concept. She is also getting better at transitioning from the sitting position to laying position, but still requires some help. This week a teacher from the Governor Morehead program will be coming to see us to see if Haley qualifies for visual therapy. This is a state funded program for visually impaired children. Although Haley sees just fine, she may need help compensating for the irregular eye movements (oculomotor apraxia). I think that is all the new stuff going on.
Thank you all for the thoughts and prayers. It has been a tough couple of weeks, but we are dealing with all of this pretty well.....most of the time. I found a neurologist in Charleston who is a Joubert expert of sorts. He discovered the "molar tooth" sign found on MRI with Joubert. I contacted him via email a few weeks ago and he asked for me to send a copy of Haley's MRI. I'm waiting to hear back from him now. I will keep you updated on any progress and news.
Here are some pictures of us having some fun in the sun this afternoon. She absolutely loved being in the pool even though it is still pretty chilly when you first get in. I hadn't planned on getting her in the pool, but she insisted......see what I mean, 1 is the new 2!!!!!
excuse the mess around the pool, its a constant work in progress!!!
Tuesday, April 21, 2009
WELCOME TO HOLLAND
Emily Perl Kingsley.
c1987 by Emily Perl Kingsley. All rights reserved
I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this......
When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.
After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."
"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."
But there's been a change in the flight plan. They've landed in Holland and there you must stay.
The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.
So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.
It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.
But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."
And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant loss.
But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland.
Friday, April 17, 2009
We saw the neurologist today, and deep down I knew that there would be something wrong. We wouldn't get the unexplained cause for her ocoulomotor apraxia that I had hoped for. She has what is called Joubert Syndrome. Its complicated to explain, and I don't have the energy right now to write it all out. This is copied and pasted from the Joubert Syndrome Foundation website, there is a link to their website on the right side of this page:
Joubert syndrome refers to a disorder in which there is a specific abnormality in the part of the brain called the cerebellar vermis. There is a group of genetic conditions and syndromes that may share this cerebellar malformation, and they are known as Joubert syndrome and related disorders (JSRD). These conditions have some characteristics in common, but there is a spectrum of symptoms and abilities in affected individuals. For additional information regarding this family of conditions, please refer to the Joubert Syndrome Foundation & Related Cerebellar Disorders website at www.jsfrcd.org.
Individuals diagnosed with classic Joubert syndrome traditionally exhibit the following features:
-Underdevelopment (hypoplasia) or complete lack (aplasia/agenesis) of the cerebellar vermis, usually indicated by the “Molar Tooth” sign found on an axial view of a brain MRI scan.
•Developmental delays—variable severity.
•Difficulty coordinating voluntary muscle movements; uncoordinated movements (ataxia).
•Decreased muscle tone (hypotonia).
•Oculomotor apraxia (OMA), which is a specific eye movement abnormality in which it is difficult for children to track objects smoothly. Eyes may appear to jump, with jerky eye movements.
•Difficulty processing and reacting to information received through their five senses.
Explanation of features:
Individuals diagnosed with Joubert syndrome have an absence or underdevelopment of part of the brain called the cerebellar vermis which controls balance and coordination. The severity of the resulting ataxia (uncoordinated movements) varies from person to person.
Decreased muscle tone is common in children with Joubert syndrome. As a result of the poor muscle tone, developmental delay (usually in gross motor, fine motor and speech areas) is common. Some children have also been noted to have abnormal eye and tongue movements. Developmental delays are usually treated through physical therapy, occupational therapy, speech therapy, and infant stimulation. Most children diagnosed with Joubert syndrome are able to achieve standard milestones, although often at a much later age.
Some individuals experience difficulties resulting from an inability to appropriately process information received through the five senses - hearing, seeing, tasting, touching, and smelling - as well as from their poor sense of balance and muscle movement. Some families have found that sensory integration therapy can help to minimize these sensory issues.
Overall health and growth are not known to be severely affected by this condition unless significant liver or kidney failure occurs.
Management and treatment:
Presently, there is no cure for Joubert syndrome. It is recommended that individuals with Joubert syndrome see the appropriate specialists necessary to help monitor their various clinical features. Suggested specialists include a nephrologist (kidney doctor), ophthalmologist (eye doctor), geneticist, and neurologist, as well as any others recommended by your doctor.
Screening for some of the complications associated with Joubert syndrome-related disorders, such as liver, eye, or kidney involvement that may become progressive over time, is recommended on an annual basis.
In plain English there is a bridge between the two halves of her brain that are either missing or underdeveloped and the two halves cannot communicate with each other. This explains her poor balance, not being able to walk or crawl, and her eye issues. The good thing is that this is not something that will get worse over time. She can only get better with time, not worse. As far as what she will eventually be able to do, we won't know for a very long time. We don't know for sure if that part of her brain is missing or just smaller than normal. The more that is there, the less severe this will be. For some reason, they couldn't see how much of the "bridge" was missing. More than likely if she is able to walk or talk in the future, it will happen at a much later age than normal. But the fact that she is making progress is a good sign that she could be a fully functional child. In the most severe cases, these kids can't even sit own their own, and she has been doing that since she was 7 months old, so that is a very good sign. The doctor also said that in very mild cases, some people are so "normal" that they may not even know they have it.
Right now we are involved in so many therapies it makes my head spin. She is getting all the medical care and therapy that she could possibly be getting thanks to our physical therapist being very proactive and getting us involved in a wonderful developmental program. She is getting PT and OT. This week she started a "preschool" which focuses on child development and the teachers are specially trained to deal with children with developmental delays. We are looking into getting her started in a visual therapy program also. So needless to say we are very busy and she is getting the best care possible.
Will and I are very optimistic that Haley will grow to be a "normal" child, we may just have to take a different route to get there. But what can you really say "normal" is? We have always known that Haley is a special little girl with or without our current issues. No matter what happens with her she is still our daughter and love her more than life itself, and she is still your granddaughter, neice, cousin, friend, god-daughter, etc. No diagnosis a doctor could give her can change that. She is still the same Haley that she was yesterday. There is no need to worry yourself to death, there is nothing we can do to change what is going on with her. All we can do is take one day at a time, go through with therapy, pray for the best, try to treat her like any other child and enjoy every minute we have with her.
Thank you for your prayers and please continue to keep us in your thoughts. If you have any specific quesitons please feel free to email me. I will try my best to answer them. I know this is confusing especially for those who don't have a medical background. It is sometimes hard for me to translate into laymen terms.
Sunday, April 12, 2009
Grams made me an Easter Bunny cake.
It sure was good!!!!
The Easter Bunny came to see me today
He brought me a cell phone and some puzzles.
We were going to go to church, but I decided to take a nap instead. But here I am in my pretty Easter dress anyway
I attempted to hide some Easter eggs
But I got side tracked, some of them had treats in them!!!!
And now I blow kisses to everybody. Happy Easter!!!!!