Thursday, October 29, 2009

A new diagnosis

It has been an exhausting couple of days for us, but we would like to attempt to share with you some of what we learned from our doctors in St. Louis today. Please forgive us if this reads like a medical journal. Don’t have much energy to write more than just the facts at the moment.

The diagnosis: Infantile Spasms (IS) -We arrived in St. Louis yesterday. At the beginning of our appointment, we explained to the doctors the kinds of abnormal movements we were seeing in Luke. (started seeing these early September) These startle jerks often occur when he is waking up from a nap and seem to come in clusters. Our neurologist here in Springfield had read Luke’s recent EEG and ruled out the possibility of infantile spasms. He really couldn’t give us a good reason for why Luke would have these startles though. While we felt a huge relief when we heard that it wasn’t IS, we continued to feel very uneasy about the situation since there was no explanation and the spasms were getting worse. As soon as we explained all of this to our docs in St. Louis yesterday, they immediately suspected that Luke did in fact have IS.

They asked for us to stay the night and come back to St. Louis Children’s Hospital this morning for a repeat EEG, which would be their final confirmation. This morning, Luke was hooked up to the EEG machine for about 45 minutes. Shortly after, the docs came in, gave the diagnosis of IS and immediately started talking to us about possible treatments, emphasizing that time is of essence and treatment needed to start as soon as possible. (pretty much today)

The cause: Luke is diagnosed with symptomatic IS. Most likely, his spasms are caused by a pre-existing brain injury….in his case, the brain bleed at brith.

Often IS is a genetic disorder. Since we have no history of epilepsy in our family, and since Luke has an identical twin brother without the disorder, he is quite a quandary. Washington University is a research hospital and currently neurologists there are studying the genetic component of Infantile Spasms. We have released Luke’s records to be used for research, agreed to genetic testing, and will allow them to run tests on Caleb in the future as well, as this data could greatly help their research efforts.


Treatment: There are a couple of options. We have chosen to try the drug Vigabatrin (Sabril) first. This med has been used to treat Infantile Spasms in Europe for about 20 years but has never been approved by the FDA….until 2 months ago! It is very strictly regulated and Luke will be placed on a national registry and monitored very closely. The most serious side effect of this drug is loss of vision. Research shows that vision loss typically occurs with long term use and they don’t plan to keep Luke on the med for more than a few months. Luke will have to closely watched by his eye doctor here in town while he is on this med. The drug will be shipped to our home within a week.

We will continue to increase his anti-seizure med, Topamax, as well.

In very rare cases, IS can be treated, believe it or not, with a vitamin, B-6. In some cases the body simply doesn’t process B-6 normally and infantile spasms can result. In this case, a supplement is needed. We gave Luke his first dose of B-6 tonight. While we’re waiting on the other drug to arrive, we’ll try the vitamin and see if we notice any lessening of the spasms.

Our main objective now is to stop the spasms. It’s long (and quite complicated) to explain all that is going on in his brain during these spasms, but suffice it to say that they are very bad and need to be stopped as soon as possible. Left untreated, the spasms would cause Luke to stop developing any further than he already has, and in most case, would actually cause him to lose skills he has already mastered.

So, the treatment is to stop the spasms. If Vigabatrin doesn’t work (and half of the time, it doesn’t) than we will have to do the second option, ACTH therapy.

Prognosis: The hardest news to hear by far. Really smart doctors tend to have very little tact. That was certainly the case with our doctors today. Maybe that’s a good thing. They were straight forward with us that the long-term prognosis for Luke is very, very (insert about 10 more “very”s here) poor. Children with Infantile Spasms generally go on to have severe motor and cognitive delay. The spasms themselves will often stop by age 4, only to be replaced by another kind of seizure. These seizures are typically hard to treat as they are unresponsive to anti-seizure meds. Since seizures are so hard on the brain and can often erase whatever skills been learned, these frequent, hard to control seizures wreak havoc and simply leave very little hope of any significant development.

Prayers: I guess by now we’ve left no doubt in your mind, that short of a miracle, things are looking pretty bleak for Luke. Specifically, you can pray that the Vigabatrin works and that the spasms are stopped quickly. Pray, pray, pray for Luke’s brain. The thought that has come to us over and over since he was born was a prayer for “order to be restored” in his body. These spasms cause Luke’s brain to be extremely disorganized and the EEG shows very chaotic activity. More than ever, we need to pray for ORDER. Continue to pray for perfect development. Please ask God to bring a peace to our hearts as well, as we face all these new challenges. We’ll be traveling a lot back to Children’s Hospital, so pray for travel safety.

If we’re honest, this recent diagnosis has certainly left us with a level of hopelessness, doubt, confusion, fear, and the list goes on. You can probably imagine the kinds of thoughts that run through our mind…maybe you have the same ones. How could we pray so long and now come to this? How could you do so many miracles, God, only for this to be the result? Even though we have many questions and don’t always see God’s hand….there are certain things that we are very thankful for at this moment. We’ll end with those things:

· God miraculously opened the door in St. Louis and connected us with some of the very best pediatric neurologists in the nation. We feel they were attentive to our concerns and we’re thankful they were able to quickly discern Luke’s condition.

· Both treatments are very costly (doctors estimate up to $100,000). Just two months ago, without FDA approval for the drug Vigabatrin, insurance would have not have paid for this treatment option we have chosen. We understand they are going to be paying it in full.

· Most children who get a diagnosis of infantile spasms have already begun to lose skills they have already attained. In Luke’s case, the spasms started in September, but since time, he has learned to sit unassisted and has become stronger. He is very delayed in his development for his age, but still the doctors were very surprised that he has been making progress even after the spasms started.


We know people all over world are praying for Luke. Thank you for your prayers. We love you!

13 comments:

  1. John 9:1-2
    The Message

    Walking down the street, Jesus saw a man blind from birth. His disciples asked, "Rabbi, who sinned: this man or his parents, causing him to be born blind?"

    Jesus said, "You're asking the wrong question. You're looking for someone to blame. There is no such cause-effect here. Look instead for what God can do."

    ****************************

    We serve the Creator of the Universe whose plan for our lives is beyond our understanding. Luke is such a gift to everyone who knows him... he is a blessing. I will continue to fervently pray for his body, his brain, his development... and for order. And I pray that you both feel the Holy Spirit's presence surround you and your family in ways never felt before.

    We love you guys,
    Joy and Forrister

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  2. God is and has been in control.. though this is growing your fiath.. as a Mother, you wish you could skip this growth lesson. I love you and pray for order in Luke' body. I bind the enemy by the blood and name of Jesus, that NO MORE of the enemies tactics to reak havic on this childs body with have any more fruit. The stripes the Jesus bore, gave Luke perfect health, and I agreee with your, that now, I speak health and ordeer to your body Luke, your brain to be whole, your body to regain it ability to develope, your muscles, and nervous system to function as GOD has created you to be in perfect harmony. Peace be with your parents, and family members. Holy Spirit, comfort them like only you can.. bring a sense of joy, in this situation, your joy, that is unexplainable... I pray this in the name of Jesus.. and I thnk you now for the miracle that is and has already taken place.. You are an awesome GOD! Amen

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  3. Amen!!

    while I start to pray for the little Luke, the first thing that comes to my mind was " God didn't make a mistake while he has created him!" God do not do something without a reason!! BUT ONLY for HIS GLORY, your little treasure is an instrument of God, God can heal him, and he will, but first the reason of his birth have to be fufilled!! Glory to God.
    But while I received this, I thought about you parents, I have a little girl almost same age, and I thought if I was at your place how will I feel... so I prayed for you both, that God gives you a surnatural strenght, peace and Joy!! That He increases your faith so that you will not worried but see the fufillement of HIs WORK because God is ABLE to do GREAT MIRACLE !! I proclame that for little LUKE and YOU his courageous family!!


    You are blessed!
    LOve you in Christ!

    (sorry I'm not an english person, but Italian,
    hope I make me understood..sorry for my english)

    Daniela and Alexandre JULIE

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  4. Andrew and Christie - I can't imagine the turmoil and *overwhelmedness* that you both must feel now. Just know that God will also overwhelm you at times with his presence. He is never far from you.

    Psalm 10:17 - "You hear O Lord, the desire of the afflicted, you encourage them, and you listen to their cry..."

    May our great God show Himself today to be greater than your circumstances, and may all your steps...and all of Luke's...be ORDERED of the Lord.
    Praying for you, missing you, wishing we could be there to hug you!

    Love,
    Jerry and Paula

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  5. Wow, I had no idea what you guys have been going through. My little sis is on facebook so I guess that is where she got the info from you about this blog. I will pray for your family. May God not give you anything more than you can handle...

    Rebekah (May) Cloninger

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  6. Even when our challenges get bigger, God remains the same size: Big enough for all of it. Not only that but he is not surprised. I am reminded of the three servants in which Jesus taught the lesson: he who is faithful for little shall be trusted with much. You two have been faithful in Luke's life, not only to have faith for healing but in obedience in using his life for the glory of God. I pray that this is just another chapter of Luke's story that he will tell later to prove God's character as a healing mighty God. I pray for you, too, that you would continue to have complete faith in that big God who has not gotten any smaller despite the growth of your challenges! Praise Him that doctors do not have the final word (despite their knowledge) but HE does - your hopelessness (as understandable as it is) is based on what human has told you .... instead I pray that you would base your Hope on the One who oversees you and your little ones! May He calm your heart and may you find joy in both your sons everyday.

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  7. wow, not even sure what to write, other than that we are praying for you. our heart breaks that you are going through this and we are trusting the Lord to bless you, Andrew, Luke and Caleb and to work a complete healing and miracle in Luke's life!!!

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  10. Kristi and Andrew- Hi my name is Jen. Misa emailed me and asked me to contact you. I know she gave you my info also.

    I haven't gone back and read your whole blog yet (I will soon) but I wanted to touch base with you right away and tell you my story. I will try and keep my story organized and easy to understand, it's long and I ramble, sorry :)

    First, I want to congratulate you on the knowledge you have so far. You are light years ahead of some families at this point in that regard. There is also a support group you should join ASAP. infantilespasms.yahoogroups.com

    Now, me. My son Austin began having seizures at 16 months (Jan '04). He had been typical prior to then. He started having multiple head drops a day. Then they found a lesion in his left temporal lobe. So much was happening at once and we weren't fortunate enough to be at a great hospital. After 4.5 months of no progress, depsite numerous medications, we went to Boston Children's Hospital. It didn't take them long to figure out Austin was having infantile spasms. Boston's first goal was to determine if the brain lesion was the cause. They did a brain biopsy and got no answers (very frustrating!). Then they wanted us to try ACTH. By now I had done my research and learned about Vigababtrin. Being as this was over 5 years ago, Vigabatrin wasn't being used often and it wasn't FDA approved. I told the neuro this was my choice. He wasn't convinced but begrudgingly let us give it a try. To his amazement, Austin's spasms stopped on day 4!!!

    By now, Austin was 23 months old. He'd been having the spasms for 8 months. He had lost months of development, primarily in speech and cognition. It was heartbreaking.

    We began early intervention immediately.

    Five years later, Austin amazes me on a daily basis. He is 7 years old and in a mainstream second grade class. He certainly has his learning issues(memory and processing, reading and writing), but his IQ is above average and his vocabulary is incredible.

    He has had some periods of occasional seizures, but is currently seziure free and on no medications. He was on Vigabatrin for a total of about 3.5 years, sometimes at a fairly high dose. He had ERGs (vision checks) often, but never had any peripheral vision loss. Also, of the hundreds of kids on the IS boards, not a single child as experienced any vision issues. So please, don't EXPECT vision issues, but be sure to monitor the situation. The important thing to remember is what IS can do, versus POSSIBLE peripheral vision issues. You will find 90% of parents will gladly risk the vision issues for the chance to stop IS.

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  11. Don't expect that this diagnosis will be horrible for Luke. With prompt treatment, many kids do have a chance to be typical. The fact that Luke is still doing well is very encouraging.

    I am so glad you have the opportunity to use Vigabatrin. There are many families who fought tirelessly to get this medication approved. I even attended the FDA panel hearings in DC in support of this. The panel finally agreed that despite the side effects, IS children NEED this chance.

    In terms of cost. My understanding is Vigabatrin, at cost, is $1500 a month. Most families with insurance should pay a nominal co-pay.

    ACTH- the med definitely works for some kids. I don’t want to speak badly about it, but be sure before you start treatment (if you have to) that insurance will cover it. The going rate is about $125K for a 2 month course of treatment. I, personally, think it is sickening that a drug that cost a mere $3K for a course of treatment 2 years ago has skyrocketed like this. Families like ours do not need the additional stress. I have so much more I could say on this topic, but I won't. Just know that if you need to try it, that you ensure insurance will pay in full.

    OK, I am going to stop for now. I have given you a lot of info in just a "comment". Please be sure to join the IS group. You will find MANY parents that can be of help and support. Also, get in touch with me. I fully understand the pain you are in right now and will offer any and all support I can.

    The best to Luke
    Jen
    http://blog.timesunion.com/austinbenconnor
    momofabc @ nycap.rr.com

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  12. Me again. I went back and read all your posts. I got to thinking. If perhaps the hypps have been on the EEG for awhile, though you hadn't seen seizures, you might want to ask about Cortical Vision Impairment. It's like blindness in that the child can't see, but it's not true blindness and it's reversible. It's when the brain can't process what the eyes are seeing. Structurally the eyes will be fine.

    Just a thought.

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  13. Well .... we know what we need & can not do without!

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