New Pages: About Fragile X Syndrome & Fragile X Resources

The About Fragile X Syndrome and Fragile X Resources pages have been completed!

 

The other pages will be ready soon.

 

Stay tuned!  : )

Update 3/22/2011: the beginning of a new chapter

So much has happened since Grant's official diagnosis of Fragile X Syndrome. The pronouncement of the syndrome was the end of a long journey and the beginning of an even longer one. The past couple weeks have been full of doctors appointments, phone calls to make more appointments, endless paperwork, and many tears. Our daily routines are the same but the new reality - the diagnosis - casts a revealing light on each situation/symptom. At times it is empowering. Other times it is crippling.

I wish I could say that I have remained strong and unfaltering through this bumpy road but I cannot. I have had some rough days. I have cried myself to sleep, begged God for answers, and questioned His plans.

Oh Lord why? What an awful, devastating disease! Why Grant?!? Why me? Why anyone? Who am I to be spared from such pain when others experience the same and even greater pain? Lord, please come soon!

I have also seen God's mighty, loving, and faithful hand work through the body of Christ. I am learning to lay my fears and weaknesses before the throne and, in turn, I am being robed in peace.

Next week will be jam-packed with appointments. Since my parents will be in town visiting from Minnesota, I am trying to cross a lot off of a long to-do list. Please pray that all of the following appointments will go smoothly.

Monday: Physical therapy and Grant's IFSP (Individual Family Support Plan) review with his CDSA service coordinator and all his therapists. During this meeting we will also begin the paperwork and transition process with a CMS representative to enroll Grant into a special needs preschool program.

Tuesday: Speech therapy and spending time at the SSA to obtain approval for financial assistance to help pay for additional therapy. Also, Wesley's 12-month wellness check-up and immunization shots - finally!

Wednesday: Grant's out-patient surgery (he's getting his frenulum clipped and getting tubes put back into his ears) and Wesley's blood work at the Levine Children's Specialty Center for Fragile X testing. (Please pray that not only will Wesley not have the full mutation of Fragile X but also that he will not have the premutated form of the syndrome.)

Thursday: Occupational therapy. I am also trying to get Grant's hospitalized sleep EEG scheduled for that day but am thinking it may have to wait a couple more weeks.

Friday: Occupational therapy and enjoying my parents' company!  :)

I am working feverishly to get an appointment for Grant to be evaluated by Charlotte TEACCH (for autism) and an appointment with the Duke Fragile X Clinic (an intense two-day appointment full of various testing, observations and counseling). He has been entered into the Fragile X registry and I am praying that Grant will be eligible for a clinical study soon.

With all that has been going on I have been very slow to return e-mails, phone calls, and text messages. I am so sorry. It weighs heavily on me that I do not have the time to respond as quickly as I would like. Please know that it is not intentional. I want you to know that I appreciate all the encouragement and very helpful advice - keep it coming! Please, please, please keep praying. We need it. Aaron and I sometimes struggle to verbally share how we are doing but we are eager to share how God is working in our lives through YOU! We have been blessed by so many. Thank you.

I'll close with a poem I read a couple weeks ago in Streams in the Desert during my quiet time with God (March 7th):

Why must I weep when others sing?
   To test the deeps of suffering.
Why must I work while others rest?
   To spend my strength at God's request.
Why must I lose while others gain?
   To understand defeat's sharp pain.
Why must this lot of life be mine when that which fairer seems is thine?
   Because God knows what plans for me will blossom in eternity.

Wesley is ONE: the birthday party

Happy Birthday, Wesley! My baby is one! We celebrated Wesley birthday on Saturday with family and his close buddies.

There was food...

.... and cake, of course...

... lots of eating...

... and playing.

When it came time for the birthday song and the traditional "demolishing of the first birthday cake," Wesley greeted the pomp and circumstance with a scowl. He wasn't sure what to think of the attention. (Why is everyone looking at me?)

Wesley was also very cautious of the candle.

(But Mommy said I should never play with fire...)

In true Wesley form, he tentatively picked at the cake; carefully picking off the M&Ms first...

... until big brother came to the rescue.

(Come on, Wes. Let me show you how it's done.)

Big brother Grant is very thorough.

(You gotta really dig your fingers into the cake.)

Together, Wesley and Grant got the job done. 

Operation Demolish Birthday Cake - Accomplished!

(I think I'm going to be a little sick.)

More Movin' and a Groovin'

Wesley doesn't like to sit still much for pictures any more. He'd rather grab the camera and play with it.

Wesley has been doing so much this past week. He is walking all over the place, can pivot around on one leg, and can even stoop down to pick up a toy and stand back up without holding on to anything. That, along with clapping and finding his tongue again, has made for very a fun and active week. It is, however, most exciting for me to watch his verbal/language skills develop.  He began pointing a few weeks ago and now loves to turn pages in books and point to the various pictures. Praise God!! He is even trying to say a couple words and mimics some of my mouth movements. Aaron and I are rejoicing in these positive signs of development.

Therapy Tuesday: Jumping & Swinging

Over the past year I've been learning a new language. It's not Spanish, French, Chinese, or Russian. In fact, there is a good chance you haven't even heard of this language. It's called Specnetalk (aka: Special Needs Talk). It's from the land some people call Holland. Sure, I would have preferred to learn Italian (I've always wanted to go to Tuscany and take cooking classes), but the guide book I was given was for another place. One of the phrases from this language I have referred to a couple of times is "sensory diet." 

A 'sensory diet' (coined by OT Patricia Wilbarger) is a carefully designed, personalized activity plan that provides the sensory input a person needs to stay focused and organized throughout the day. Just as you may jiggle your knee or chew gum to stay awake or soak in a hot tub to unwind, children need to engage in stabilizing, focusing activities too. Infants, young children, teens, and adults with mild to severe sensory issues can all benefit from a personalized sensory diet. (Raising A Sensory Smart Child)

A sensory diet is crucial for Grant to be able to calm his body, give him body awareness (proprioception), stability (vestibular input), and it helps him to focus on various learning activities. A couple very important ingredients in Grant's sensory diet is jumping and swinging.

 

Grant walked at 18 months. He could jump without holding onto anything at 19 months. He could jump (feet leaving the ground at least an inch or more) while holding onto furniture at 14 months. He was a blur in the Jumperoo at five months. This kid LOVES to jump. Grant got a small trampoline yesterday. It took him mere seconds to know what to do.

Jumping: Grant loves to jump. He starts jumping mobs with kids his age wherever he goes. He jumps while watching TV, stops to jump while we are out on walks, and I can usually hear him jumping up in his room after he wakes up from his nap. Jumping provides proprioceptive input (sensations from joints, muscles and connective tissues that lead to body awareness). This input can also be obtained from "heavy work." We have Grant lift, carry, and roll medicine balls down our little slide before he goes down. He also pushes and pulls a small laundry basket with a heavier medicine ball in it all around the house. 

Swinging: The best way to calm Grant down when he is cranky or falling all over himself (aside from pressure therapy) is to swing him. We don't have a swing set in our back yard so we try to visit the park as often as the weather permits. If you stop by to visit, you'll probably witness Grant pulling out the designated blanket to initiate "blanket swinging." This is the best alternative to having an indoor framework for therapy swings. Each person (two adults) takes two corners of the blanket and Grant lies in the middle while we swing him back and forth. Sometimes he just lays still and collects himself but often he'll move around in the blanket getting all sorts of vestibular input (The sense of movement, centered in the inner ear. While any movement will engage and simulate the vestibular system, spinning and swinging are the best and most intense.). We try to do this at least twice a day.

So now you have learned a little Specnetalk. Stick around and you might become fluent in it.