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Haley rides a bike!

Posted by Haley's mom on March 19, 2011 at 3:34 PM Comments comments (0)

Haley's school physical therapist has given Haley this bike "on loan" to try for awhile.  Yesterday was her first time out.  She did so good, with the exception of heading for drainage ditches on occasion.  But her face shows her happiness beaming, ear to ear!  I apologize for the poor quality of this video!!

Gracie and her "friend" Susie in the back ground!!

It's HERE!!!

Posted by Haley's mom on March 18, 2011 at 8:44 PM Comments comments (4)

 After years of talking about the elusive drug, Stiripentol (Diacomit), we finally have it in our possession!!  It has been a long and involved process to secure the drug and have it fully funded for Haley.  We pray that it will give Haley some relief from the almost daily generalized tonic clonics that she has been experiencing lately.

 

We first heard of Stiripentol shortly after Haley received her diagnosis of Dravet syndrome four years ago.  We saw it on the IDEA League Family Forums.  It was a drug that produced in France and available in Europe, but not the USA.  At the time it had just had a huge price increase in the cost of the drug.  There were many families that were able to import this non-FDA approved drug.  Some had miraculous effects and others did not have great success.  We were shown the what, how, why and where to get the drug IF our doctor would write the prescription. 

 

Back in 2008, we did not think it was going to be possible to get the drug for Haley and we thought it also was more beneficial to the kids who were suffering from "Status Epilepticus", a seizure lasting 30 minutes or longer or clustering of seizures with no consciousness in between.  Since Haley had not had an episode like that since 2005, we did not push the issue to get the drug.  However, time went by and we tried and failed new drugs and the prescriptions she was on were not giving her much of a break seizure-wise.  Lately the longest we go without a seizure is 2 or 3 days. 

 

In 2010 we decided we wanted to try the "magic" combination that has been known to work for children with Dravet syndrome.  We heard it at the IDEA League 2008 Family and Medical Conference and then again in the 2010 conference, Stiripentol, Frisium (Clobazam) and either Depakote or Topamax was the combination that works for some Dravet kids.  So we began our quest to get these non-FDA approved drugs.

 

Just an aside, both drugs are available in the USA because they have orphan status.  An orphan drug is a drug that has shown to help a rare disesase or condition.  Since these drugs serve a small population, there is not a huge return on investment for a pharmaceutical firm to put out all of the money for clinical trials.  Basically it all comes down to the almighty dollar.  So sad....  However, Frisium is about to be approved in the fourth quarter of this year.  It will be rebranded as "Onfi" and available in the USA.  The clinical trials for the drug were focused on individuals with Lennox Gastaut syndrome a much larger population than Dravet syndrome.  We are so happy that the drug will be approved by the end of the year.  Stiripentol is another story.  So far the ONLY group Stiripentol has been beneficial for is Dravet syndrome.  Haley's doctor was helping to advise the IDEA League with getting the drug started with the FDA approval process said that the data supplied by the European studies would be "laughable" to our FDA's strict procedures.  Unless we can find another group that would benefit from the use of this drug, it will not be approved any time soon.  It is just not cost effective.

 

In 2010 we were able to finally get our doctor to write a prescription for Frisium.  We were going to pay for it initially out of pocket, an expense of nearly $300 a month.  Fortunately with the help of the IDEA League and other parents who have traveled down this road, we were able to get the drug approved by our primary insurance company.  Surprisingly, it required very little effort.  I guess when you send the insurance company a 20-page packet with the documentation on how the drug has helped other Dravet children and various approval letters from their own counterparts in other states, they have little to deny!  In April of 2010 we started weaning Haley from Klonopin, a drug that is similar to Frisium, but has more adverse side effects, to Frisium.  The wean from Klonopin was supposed to be very difficult and we did it painfully slow.  I am happy to say, we had very little adverse effects and Haley came through the drug "exchange" a more vibrant little lady.  With the addition of Frisium, we saw more spontaneous language and more personality.  We were so happy and ready now to tackle Stiripentol.

In the summer of 2010, I contacted Haley's old neurologist who is now a state senator too!  Lucky us!!  He agreed to help us with our endeavor to get the drug approved through Virginia Medicaid.  Stiripentol out of pocket is very costly.  A month's supply could cost well over $1000.  We just do not have the money to put out in advance.  Her old doctor is a true Southern gentleman and a wonderful advocate.  He sent the letter in the the agency in July and rumors were heard that Stiripentol was covered in Virginia by August.  We even heard from the pharmacy in NYC that they had become an "approved provider" for Virginia.  It all sounded so promising!!  Sooooo we waited and waited to hear an official confirmation....and it never came.  Summer slipped into Fall and right before Thanksgiving the pharmacy called and said, "all we are waiting for is a coding form to know how to bill".  I was seriously doing a happy dance, jumping up and down...so excited!!  Then right before Christmas, the pharmacy called to say, "I don't know what happened, Virginia is now saying 'NO'".  Immediate deflation...  Shortly after the holidays we learned that the reason for the "No" was because it WAS NO A FDA APPROVED DRUG!  Well, duh!!  That is why we wrote them in the first place!!!

 

In 2011 we started again.  I contacted her old neurologist, and he made some calls.  We hear once again from the pharmacy in NYC and they say, "We spoke to someone from VA and they are very apologetic, the just realized it was an orphan drug".  So we were back in the holding pattern waiting once again for the process and coding for billing.  Long story short, on Thursday, I called the pharmacy around 2:30 PM again to ask IF they had received what they needed from Virginia.  The answer was no.  So I called Virginia and actually spoke to a person and not an answering machine.  The ball started rolling and it quickly picked up speed, by 3:30-4:00 PM, we had new prescriptions, payment was guaranteed and next-day air was promised!!  Woo hoo!!! 

 

So on Friday afternoon, I walked into my house to find a small box about 8x8x8 was sitting on my table.  I literally picked it up and hugged it and then ripped into it!!  We are so excited to finally receive this medication and we pray that it will provide relief for Haley and our family.  This has been a long, tiring journey.  But every day we are encouraged by new friendships, gestures of compassion and the others that have traveled this road before us.

Lancaster Middle School students are "Heroes" for Haley

Posted by Haley's mom on March 18, 2011 at 8:30 PM Comments comments (1)

The Lancaster School SCA presented Haley with a check  for $800.00 in her honor.  The SCA hosted a  "Social" for their classmates with the Haley Smith Fund as the charity of choice for this year.  Mrs. Tara Booth stated that in her nineteen years of holding a fund raiser of this sort, this is the largest amount they have ever raised". 

They presented the check to Haley during their "Morning announcements/TV news".  Of course, I cried when they presented the check.  I am continually humbled and honored to be living in such a compassionate community.  During the week before the social, I would be taking Haley to her classroom and I could hear the kids whispering, "that's the girl who we are raising money for".  Along with the whispers came more acknowledgement of Haley with smiles and waves.  After she was presented with the check on "TV", one young man saw her later and said, "Congratualtions".  The following day a young lady who we do not know waved to her and said, "Hi, Haley!"  More tears from me! 

A few weeks ago in our local paper there was a letter to the editor that said they had not seen more ruder kids than this particular middle school.  In some regards I did agree with the writer of the editorial, some kids can be rude.  But I think we have to be careful to typecast and label these children.  What they did for Haley was far from rude.  Child learn what they live.  I appreciate those who made this very generous donation to Haley's fund.  One mom told me how she had given her nine-year old daughter $10 for the social and her daughter took $12 of her own money as well.  When her daughter got home she said, "Mom,...I'm broke!...but do you know what?,....it was for a good cause..."  Oh so touching...and more tears.

Timing of Diagnosis

Posted by Haley's mom on March 10, 2011 at 7:03 PM Comments comments (1)

Everyone's journey is different with this syndrome.  We traveled a long road full of hope that Haley would out grow her seizures and be a "normal" child.  "If only we could get the right mix of medicines then the seizures would be less,...then for sure she would be 'normal'", is what we thought.  That is what I can remember from the good days when Haley was young and we had no official diagnosis. 

I know some of my family members were upset that the diagnosis for Haley took so long, but recently I heard of someone's daughter being diagnosed who was 43 years old....wow, she is as old as my younger sister.  I can't imagine how that mom has made it so long without knowing, yet knowing their child was different.  I know for us the time not knowing made me stronger, wiser, and helped me grow in my faith.  For at times all I had was my faith.  Not knowing made it easier to decide to have ONE more child, yet God in his infinite wisdom, gave us twins instead.  I am not sure if we would have had more children, if we had known what life was going to be like with Dravet syndrome.  Ignorance was bliss in this department.

I know a mom whose child was diagnosed really young, under a year.  The doctor that diagnosed her child, then told the mom that her baby would not live to see five.  Can you imagine living those years with that prognosis?   I am happy to say that the child defied the doctors prognosis and is almost eight.   But having that diagnosis early has its blessings too.  You know what drugs to avoid.  You know in advance that you need to get your child involved in multiple therapies to improve their quality of life.  It is a bitter pill to swallow so young, but you at least have a path to follow.

So which is better?  Is there really an answer?  I know God gives us what we can handle when we can handle it. Like I said before our family was much better knowing later or we might not have siblings for Haley.  I am who I am because of what we went through.  I learned doctors do not know everything, that they are "just practicing medicine".  I learned a lot about myself and others.  Some people can be very uncaring and cold...and others can be surprisly compassionate.   

I feel very blessed at this point in my life.  It is hard to convey that to someone who is newly diagnosed.  When I hear someone has been diagnosed after a time of searching, there is mixed emotion.  I am very happy that they got their diagnosis, but at the same time I am bummed that it is THIS diagnosis.  However, we are all in this together and we can band together to help one another.  We all become part of an extended family that understand each other's "normal".

I saw a quote at one of my favorite restaurants, Food for Thought in Williamsburg, VA.  I wish I would have written it down.  It went something like this, "Life is not fair, it just is...it is how we react to it that makes all the difference".  I really like that.

Blessed by friends

Posted by Haley's mom on March 9, 2011 at 4:22 PM Comments comments (0)

I am constantly humbled by the members of our community that want to reach out and help Haley.  Today a friend shared a website that they created to help us reach our goal of $30,000 for Haley's research goal.   The website is called "Miracles Happen" and the link is www.cafepress.com/jesusfulmiracles  

Please check out the link and see all the goodies that you can purchase to Help Haley's cause!

Thank you Tom and Alison for your dedication to Haley and our family.   We love you guys!!!

 

 

Happy 10th Birthday Haley!

Posted by Haley's mom on August 20, 2010 at 8:40 AM Comments comments (1)

When you were born, Haley, I had dreams of my life with my little girl. However, those dreams were soon shattered and replaced with new visions and dreams that were never on my radar screen. I mourn the loss of those dreams, hopes and wishes, but through the mourning I have found strength. In the past decade I have complained to the “powers-that-be” on occasion that THIS was NOT part of my “Mommy contract”, but my cries have fallen on deaf ears. But now reflecting back on my decade with you I have been so blessed by you and have learned some great life lessons. I have learned it is OK (and necessary) to ask for help, “things” are not as important as people, patience is learned and trials help you learn them, that you cannot know true joy unless you experience some low times, that people are truly good when given an opportunity to help, that doctors are JUST “practicing” medicine, that moms can be a force to reckon with when we band together for a cause we believe in…I have learned to slow down, to be ready for a change in plans at ANY moment, or several changes in plans….and I have learned not to get disappointed when things don’t work out. Most of all I have learned to rely on God and prayer to get me through the tough times. Through all of this I am so thankful for the little girl I have. The experiences that have happened over the last 10 years have served to make my life richer! We love you Haley!! Thank you for your laughter! Happy Birthday you are a very special little girl!!

Spring Cleaning

Posted by Haley's mom on March 6, 2010 at 12:30 PM Comments comments (2)

We are in the process...or should I say, we have always in the process of remodeling here.  Such is the life of being married to a builder.  Like the cobblers children, we are the last on the list to get our work done.  Anyways, we are getting ready to do a major rooms change.  Haley's brothers, Peyton and Parker, are going to move into Haley's room and Haley is getting a new room.  (Hopefully we can add some theraputic element to it) 


Today I have been cleaning out her closet and her dresser.  It is bittersweet.  There are so many keepsakes and momentos that I saved thinking as Haley grows up she would love to see these things.  Like the ribbons that announced "It's a Girl" on the maternity ward.  Or the cute "collectibles" that were given in her infancy.  Since she was born in 2000 there were so many "Millenium" momentos as well. 


I am heavy hearted as I once again must bury the dreams I had for my precious daughter.  The goals and desires we had for her are now replaced with the reality of raising a child with a profound disability.  Yes, there are so many blessing that come with Haley's life.  However, it is hard to live in "Holland" (reference to a poem "Welcome to Holland~it can be read on my "Things Pondered" page) and keep dreaming of the exotic places you thought you were meant to go.


Last weekend the reality hit me so hard.  I broke down in tears and could not function.  I wished I could "resign" from being Mom all together.  Fortunately there are so many other Dravet moms and dads out there that can relate.  A phone call from one of them really lifted my spirits.  With my companions on this Dravet journey and my faith in God I was able to see life from another point of view.  My spirits are now lifted.  It is still is hard.  Especially the mourning of "what could have been".... 

Update on Haley

Posted by Haley's mom on January 20, 2010 at 9:57 PM Comments comments (2)

Well the last post on December 2, 2009, we had gone those five days without a seizure.  I don't  think it was more than an hour after I finished typing, I was sitting in the glider rocker waiting and boom, there is was the seizure we were expecting.  Since then we are lucky if we have gone more than one day without a seizure.

 

We went to the neurologist on Dec. 15th and it was decided to do nothing at this time.  We looked into Vimpat, another new seizure drug.  There have been no studies on kids and definitely no studies on Dravet syndrome.  I opted to wait on that drug.  We agreed to meet again in February and so we wait.  I guess when you don't know what to do, it is best to do nothing at all.

 

At this point, 20 days into the new year, Haley has only had five days without seizure activity.  She primarily will have one or two seizures before she wakes up.  She goes on to function normally (for Haley) afterwards.  Amazing....  There have been a couple of days where she has one tonic clonic before she wakes up, then one in the late afternoon (these scare us the most) and then one more after she has fallen asleep.  This is when we intervene with a Diastat dose.  If we don't we feel we are most certain to have a cluster of seizures all night long.

 

About a week ago Haley had one of those three seizure days that I just outlined and Bobby and I were made aware how much Peyton and Parker go through with their sister having seizures.  Bobby, the twins and I were eating dinner and Haley was just wandering through the kitchen.  She was not hungry and just a little out of it.   Then BAM, she was down ont he hard tile floor in a full blown tonic clonic.  Parker dashed to get a pillow for her head, Peyton got a washcloth to wipe her drool, I went and got the oxygen tank and then we all waited.  This time Peyton said, "Daddy, Haley's lips are really purple...she is getting purple..." .  Bobby responded with, "Peyton, that is why we have to give Haley oxygen, do you know what would happen if we didn't?"  Then Peyton said in a rather matter-of-fact tone, "yes, she would stop breathing,...and she would die....and go to heaven...alone.........

Daddy?  Who would take care of Haley in heaven?..."  Oh, out of the mouths of babes....  This is all they know.  It is sad to think they did not know nor will they remember their sister when she was lively and so funny as in her youtube video.  They will only know their sister in this semi-drug induced state.  They are so tolerant.  I thank God for them everyday and for the compassion they are learning.  Who knows they might be the duo to crack the code on Dravet syndrome!  That would be a blessing!!

Haley M. Smith Research Fund

Posted by Haley's mom on January 20, 2010 at 9:37 PM Comments comments (1)

We have been so blessed by our community's support and generosity over the years that we have decided to start a research fund in Haley's name.  In the last two years since we went public with our family's struggle with Dravet syndrome we have received a great outpouring from so many individuals.  Initially it was David Nova and Team Marlin Maniac who put Haley's picture and the IDEA League logo on the side of his Fountain Boat.  He has been so generous with a donation of a portion of his winnings on a regular basis.  A Lancaster Middle School's student group has contributed the last two years to the IDEA League, and there have been many other individuals that have also shown support through their giving of their time and finances.  We were touched recently by a widow asking that donations be made in Haley's honor in lieu of memorials to her late husband.  It was after that selfless act that we decided to go forward with the research fund.

 

After the decision was made, I was approached by the Reverend Bryan McClain and his wife, Stephanie.  Their church, the White Stone United Methodist Church, had an annual mid-winter's concert and they donated the proceeds to a charity.  This year they asked if it would be OK, if they made the donation to the IDEA League in Haley's honor.  We were floored by their generosity.  See, we don't even attend their church.  What a loving and compassionate community we live in!  We are excited about the concert on February 14, 2010 at 3:00 PM.

 

 

Five Days

Posted by Haley's mom on December 2, 2009 at 8:23 PM Comments comments (0)

Wow, I am on pins and needles waiting for the next seizure.  It is awful to say, I know, but when they have been coming with some regularity, it is hard not to expect one.  It has been five days since her last seizure.  She had two on the Friday after Thanksgiving.  Now here we are Wednesday and no seizure activity.

 

What has changed?  We finally finished the wean off the Banzel.  Monday night was her last 50 mg  dose.  We thought that the Banzel had contributed to her increased speech.  However, based on last night's shopping adventure, she is as talkative as ever.  She must had said "Daddy" at least 100 times, ...yes,..I was counting!  The only other thing is we added a new multi-vitamin that another Dravet mom is using.  Who knows if that is the reason.  As most parents of children with Dravet know that trying to figure out what are the exact triggers for seizures (besides illness and overheating) can drive you crazy.

 

If behavior is an indication of potential seizure activity, we are sure to have some type of activity tonight.  She has definitely been on toddler-destructive mode tonight.  She broke a lamp while playing on the phone, dumped a puzzle all over the floor, threw a pump at me, and has been generally sassy.  (Honestly, it is quite cute when she does show some attitude :wink:. 

 

Oh, I forgot to mention that this IS THE LONGEST she has gone without a seizure since the beginning of May....

 

I knew it...the streak ended tonight at 9:15 PM, a generalized tonic clonic (grand mal) lasting over a minute....starting all over with day one tomorrow.

 


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