The best news on the block this week is that the IRB hold on enrolling new patients into the MPS II Intrathecal Trial has been lifted. And this is an understatement. This drug is saving lives. One mum tells people she knows that if they haven’t seen a miracle, to come meet her son Case, who 6 monthes ago was on a slippery slope towards the end of his life, losing skills and attention daily. Now, after 6 monthes of IT drug, Case’s IQ is back on the upswing and you only have to read his mum’s blog (http://www.savingcase.com/) to believe and find hope.
Trey’s trip for final qualifying assessments for the trial was postponed due to this hold. However, after the hold was lifted on July 1, I spoke with the trial coordinator who will likely have new dates for us by Tuesday. I’ll update when I know more.
In other news, for the past 2 weekly infusions, Trey’s VAD (aka. port) has been having issues. Both times accessed fine, but one time during the infusion there was a blockage, and then both times when I went to de-access, it was incredibly hard to flush and heparin lock him (I had to use both hands just to push 9 mL of saline & 2.5 mL of heparin in which is not normal). Because of these issues, we spent the day at BC Children’s hospital this past Tuesday trying to resolve and figure out what was going wrong. At the MDU (where Trey had his weekly infusions for 3.5 years), Trey was accessed and then we headed down to radiology for x-rays of his VAD. The x-rays showed Trey’s line and port are in place (although it’s not super detailed). Once we knew his VAD was in place, the nurse put in TPA (a solution that breaks up any particle build up in the line) and left it for 2 hours. Two hours later, the TPA came out beautifully and he flushed and heparin locked beautifully as well. On Friday I did Trey’s infusion and no issues!! Which is huge. If his port was done, it would have meant surgery to replace the port and I was not wanting to go down that road. Hopefully we just had a couple small bumps in the road and we’re now back to smooth sailing for years to come!
Wednesday we were back at Children’s for a meeting with Biochemical Disease to review the past year of Trey’s medical care and to see plastic surgery regarding Trey’s carpal tunnel syndrome. Mostly we talked about three things. The bump on Trey’s abdomen is not a lymph node or a hernia. Dr. Stockler thinks its just a little build up of GAGs. It’s not very prominent, you’d probably not notice it unless you were looking for it, so it’s all good. The two bigger things we talked about are Trey’s severe carpal tunnel syndrome (I’ll go there in a minute) and news from Ontario that the Ontario government is pulling a 6 year old boy off Elaprase because his brain is starting to show slight signs of involvement. What does this mean? Well, you know the trial we’re trying to get Trey into? You have to have been on ERT for 6 monthes to even be eligible for the trial. Ontario is willing to take away his chances of getting into this trial. At 6 years old, when this boy is learning to print, he can ride his bike and do almost everything else his peers can do, the Ontario government is giving up on his life. There is so much promise and so many treatments on the horizon, but the Ontario government is sentencing this child to death. I’m in touch with this boy’s mum and we’re in the process of figuring out next steps. Appalled. Mortified. Not giving up.
And last but not least, as I mentioned in a previous blog, Trey has severe carpal tunnel syndrome. Since I received this news, I researched and found an MPS hand expert, Anne Van Heest at the University of Minnesota, spoke with her, and also had an appointment with Trey’s hand surgeon, Cynthia Verchere (LOVE that they’re both women :-)). Dr. Van Heest said that although the report states that Trey’s carpal tunnel syndrome has progressed and is worse than before his bilateral release, she doesn’t agree. She said it’s not better, but it’s not necessarily worse. She had a few comments. In kids with MPS, carpal tunnel often does not normalize. In addition, if looking at the test results from a perspective unexperienced in MPS, although the results appear worse, as hands grow, that affects the test results, so she does not think this one test is indicative of progression. She also asked how Trey’s hand function is. She got into detail with me (as did Dr. Verchere) about the different nerves in the hand and what they’re responsible for, where they’re located, how they work and how they are affected by MPS. Based on his results (and the fact that we only have one test/data point since his surgery), she recommended to do another EMG (which tests nerve conduction through the carpal tunnel) one year after the last to get more information. Dr. Van Heest also told me what she would look at/for if she were to meet Trey.
Dr. Verchere checked Trey’s thumb function mostly. In his left hand, Trey’s thumb muscle function is relatively good. However, his right hand is not as good. He can barely move his thumb towards his pinky finger which indicates how well the median nerve is working and if there is muscle wasting (the compartment for the ulnar nerve has more space so is not as affected by MPS GAG build up as the median nerve which can be severely compressed in the carpal tunnel). However, his function is good, as he can hold a pencil (doing this task uses a number of muscles and involves both the median and ulnar nerve, which explains why he can barely move his thumb towards his pinky but can hold a pencil). So, surgery or not? Dr. Verchere said she can do it. Surgery would release more pressure (she would remove all the GAG build up and scar tissue causing pressure on the nerve). In addition, it is not known how much pressure a nerve can endure before there is permanent damage and complete loss of function. Those are the reasons to do surgery. On the other hand (;-)), she has never done three carpal tunnel releases on a person and does not know the effects of this. She did agree with Dr. Van Heest’s recommendation to do another EMG and then re-visit the issue. In the mean time, we will keep an eye on Trey’s hand function and if anything gets worse, he can have emergency surgery (another kicker of the EMG is that no one knows how useful the information is). Anyways, I am satisfied, after having spoken with Dr. Van Heest and Dr. Verchere, to wait for the next EMG to decide what to do.
