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  • Drug trial results in

     So for all the good the drug is doing for Luke, the results of the adolesscent double blind trial is dismal: the placebo group did as well as the group taking the drug. This is the same result Novartis got from the adult trial.

     

    How can a drug have such incredible results (reversing Fragile X!!!) in animal studies and be such a wash-out in humans???

    I am brokenhearted, but not beaten. Mt Sinai is conducting a study on another drug…..



    On the drug now for 5 months

    We're now down to IBR visits after three months, down from once a month. The blood draws continue to be very stressful and loud. Last time, the bruising was so severe, the school nurse wrote a note.

     

    There was a time when his behavior calmed down and language perked up. But things have seemed to balance out now – non-compliant behavior at home and school, and less spontaneous language. In other words, being 15.

     

    He has grown 2 pants sizes in 3 months. I'm constantly shopping for pants for him which he seems to outgrow weekly.

     

    He remains happy, loving, and computer (video) obsessed.



    “Wha?”

     8/21/13

     

    We are nearing the end of the double blind trial. Sept 4 is our next appointment and it will be a big one: urine, blood, eeg, neurological, and questionnaire for us. But it also is the day we enter the open trial and receive the actual drug.

     

    Luke has been on something: he is speaking more words, is calmer, listens to requests and acts without me having to repeat myself, is parroting speech, and is so happy. Almost high. Within 20 minutes of his dose, he is hyper, laughing hysterically, and verbose. We have had to dose him earlier in the day so he – and we -can sleep.

     

    I joke with him. I will walk over to him and ask 'what'? He thinks it is a riot. So now he goes around the apt saying 'wha'? and cracking up.

     

    Let's hope this joy, this happiness, is still part of his DNA.



    Are you kidding me?

    6/12/13

     

    We had an appointment today – our third. But Luke had a bit of a fever and a cold, and it was pouring outside. So Paul, who had Luke the night before, called me to get IBR's number to cancel. I gave him Dr Porto's phone number as well as the general number and told him that I would email Dr Gonzalez to cancel. Then I went to physical therapy because I had severely injured my back.

     

    When I got back, there were 2 messages from Dr Gonzalez on my answering machine – are you coming today? – and a confusing email.

    Paul, evidently, never called and she didn't get my email until she arrived at the Institute. Her email described a specific cognitive test that only 1 person could administer, Dr Porto. The only problem was that Dr Porto had quit his job 5 weeks previously and no one had been trained to administer this test!!! She was actually calling to cancel our appointment. Are you kidding? 5 weeks to get someone to get qualified and no one bothered to inform us????

     

    Well, another appointment was made, the test given, blood, urine taken, ECG given and we all survived.

     

    And now, Dr Gonzalez is leaving the IBR and we don't know who's taking over. Fragile X children need routine. They need to know what comes next. This revolving door of researchers helps no one.



    6/2/13 I think he’s on the drug…

    On Mother's Day, Luke called me 'mommy' for the first time. Not 'mamamamamy', or simply the last syllable, 'me', but mommy. He wanted his DVD, so the sentence was, "Mommy, D?". That's gotta be the drug.

     

    He's calmer, more communicative, and listens to instructions better. He also is expressing more spontaneous speech. I'll admit that most of it takes place in front of Elmo or Barney, but it is quantitatively more speech! I'll take it.

     

    He also is pronouncing words better – beginning and final sounds. He used to just utter the final sound, so 'cat' was 't'. Now it's 'cat'.

    It must be the drug.

     

    4th visit coming up. Blood draw, urine, and ECG – the works. I am sidelined with a herniated disc, so Paul will bring him.



    And so, the journey begins…..

    It was our third visit to the IBR for this Novartis study, but according to record-keeping, because we were given the drugs – or the placebo – to take home, it is day one.

     

    We had to fill out more questionaires and Luke went on his own for an IQ eval. He did it without much fuss and without his normal appendage – his ipad or DVD player. My gut tells me that the results were not indicative of a highly-functioning child, but that isn't news. We all have established that Luke is severely affected by Fragile X. And the silver lining associated with that is the boost we hope to see with the drug.

     

    So there's drug A and B twice a day for one week followed by drug C and D for a week. Then we go back again and get some more capsules. It is a double-blind test. No one knows what he is taking. But if he suddenly starts to talk, or shower himself, then I'll know.

     

    This doesn't come without anxiety. I mean, we've waited 12 years for this day, what if…. ? No, I won't go there….



    Luke qualifies

    We got the call. We start Tuesday.

    I am excited, anxious, scared, hopeful, worried…………….



    4/3/13 Blood draw redux

    Luke never ceases to amaze me. Today, expecting only to give blood, Dr Porto said that we may as well try to get that baseline ECG. Paul and I exchanged "uh-oh" glances. And we thought that starting with the ECG would be easier.

     

    A psychiatrist was there to help ease him into compliance. But none of it was necessary. I showed him the 'octopus' and Luke seemed to shrug it off. I mean, really, with Clifford on his DVD, he was blase about the whole thing.

     

    There was a bit of a concern when the machine itself didn't work correctly, but that was resolved. And Luke sat on Paul's lap, wired for sound, and waited patiently. What a champ! It really made a lot of sense to introduce him to the wires and leads before hand – make a game out of it.

     

    And even the blood work wasn't problematic. Still firmly and lovingly held by his dad, Luke extended his left arm and sang the lyrics to the song as the required blood was drawn.

     

    And now the clock is reset for the 4-6 week wait. But the relief in knowing that the worst is over and Luke can submit and comply to these medical examinations is palpable.



    Blood work

    We watched as 5 adults wrestled Luke on to a papoose and velcroed him in to immobilize him so they could draw blood. And he screamed, protested, and looked at me with eyes that pleaded, "mommy, how could you let them do this to me?"

     

    And 4 weeks have gone by without results of the blood work. Then an email arrived today saying that Novartis didn't have enough to test it. Seems like the lab didn't fill the vials enough. So April 3, back we go, to draw more blood from my unsuspecting angel.

     

    AAAAAAAAARRRRRRRRGGGGGGGGGGGGHHHHHHHHHHHHHH!!!!!!!



    Our first visit – 2/28/13

    Paul must have been as nervous. anxious, and excited as I was because, in spite of my driving directions, he got confused getting to the Verrazano Bridge. He was probably distracted, imaging all that could go wrong – or right.

     

    But we made it on time and waited only a few minutes before we were all led into a conference room to speak with Drs. LaPorta and Ted Brown, who is the Director of the IBR. I packed lunch for the three of us, snacks for Luke, books, puzzles, and, of course, Luke's ipad to make sure he was as comfortable as possible.

     

    The first thing we did was sign the multitude of consent forms. While Luke entertained himself with his ipad and – thankfully – headphones, Paul and I answered 2 questionaires about Luke's abilities,social skills, verbal skills, behaviors, etc. I should be used to this by now, quantifying my son's being. But it never gets any easier low-balling your only child's skills.

     

    Finally, the physical exam began. The urine sample was easy enough. And the blood pressure and weight was not a problem. But then the medical doctor, Dr Gonzalez, had to examine him with Luke's pants down, and the acting out began. It's one thing to have my 14 year old son shuffle out of his own bathroom with his pants and underpants at his ankles, bare-assed. But it is another thing entirely to have a stranger touch his genitals during an inspection. Luke protested loudly. You'd think this experience could have been made easier with pictures, or, at the very least, an explanation of what was going to come next. After all, this is a Fragile X clinic and these doctors know these children.

     

    The essential ECG was a total disaster. Paul had to force Luke's arms back as my son struggled against the electronic leads. He pulled them off and sweated so much from terrof, that the adhesive wouldn't stay. And having lubricated his body after the evening shower, the lotion was an additional barrier to the leads sticking. Why weren't we told about that? Why wasn't alcohol used to secure the leads?

    He struggled and screamed and won his battle against the ECG. Paul and I exchanged looks of fear: this can't be a deal-breaker, can it?

     

    (On the way home, I figured out that we have to desensitize him if we are ever going to get a successful cardiac baseline. So we found similar leads on Amazon and ordered them. Once they arrive, we'll make a game out of it in the hopes he will get used to them long enough for a 30-second reading.)

     

    Then came the blood draw. A papoose was brought in as an army of 5 struggled to get Luke (this kid is strong!) to get on his. Finally, with velcro straps flying, he was immobilized and his left arm was prepared for the draw. He looked at me with a pained look on his face: 'why are you letting them do this to me, mommy?' Believe me, my little man, if I could do it for you, all of it, I would…

     

    Once released, he shot up with a victorious "Ta-Da!" and that was that. He fared better than I did.

     

    Now we wait for the blood work results. To qualify, participants need a specific genetic marker this drug targets. And while I have no doubt that he has it, it's still a waiting game rife with anxiety. And so, again, we anxiously wait…..






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