MPSIIFund News

We had Trey’s yearly check up this morning with the Orthopedic Clinic at BC Children’s Hospital. Trey was amazing. He had six X-rays of his neck and back done over about a 20-25 minute period and was unbelievable through it all. The X-ray technician would move him here or there, ask him to look up, put his arms down, etc etc etc and then tell him to hold the position. He listened so well and was so helpful. I was blown away. That was almost the best part of my day! The best part of my day was the news the orthopedic surgeon gave us. Although Trey’s neck and the kyphosis in his back have progressed slightly, he is in great shape and the diagnosis is still considered mild. I didn’t realize how in need of a good check up I was until today! With last week’s plastic surgery check up and today’s orthopedic check up, I’m thrilled! The two orthopedic doctors who saw Trey could not believe how great he looked. What a great day today is!

We had a check up yesterday with the surgeon who did Trey’s carpal tunnel release a few weeks ago. The news is great!! Trey can move his right thumb!! It wasn’t easy for him to do, and he still wasn’t able to touch his right thumb to his pinky, but he could connect his thumb with the rest of his fingers. The nerve must have done some healing in the past weeks. Awesome!!
Trey has also had some VAD excitement in the past weeks. For many monthes now, Trey’s VAD has given blood sometimes, but not others. However, Trey’s nurses were always able to get blood at least one out of every three times. Three is the magic number in the MDU. No blood three times in a row and an internal nurse alarm goes off. The infusion after Trey’s carpal tunnel release marked the third time in a row nurses were not able to draw blood from his VAD, so the nurses in the MDU decided to send Trey for an X-ray (I have done some reading about alternative ways to protect and heal the body from radiation such as x-rays, so if you’re interested, give me an email). After the x-ray showed that the VAD has shifted, but is still in place and is working from this mechanical point of view, we went back to the MDU and the nurses decided to do TPA (aka. Alteplase or tissue plasminogen activator). TPA is a drug put into Trey’s VAD to break up the fibrin which is the likely cause of Trey’s VAD allowing idursulfase in, but not blood out. The TPA was left in Trey’s VAD for one hour. After that hour, the nurses tried to draw blood, but nothing came out. They tried the TPA one more time, but to no avail. From what I can gather from what I’ve heard from other parents, and from what the IV team at BC Children’s hospital has said, as long as Trey’s VAD flushes well, the VAD should be left. I’m hoping that this VAD lasts a while, or at least until Trey requires another general anesthetic for another procedure.
The IT trial for MPS II is also upcoming, but I do not have enough information yet to post.

I forgot to mention that a few weeks back, Trey, Ryan, and I met with Dr. Stockler, the Biochemical Disease doctor who oversees Trey’s care, as well as Trey’s occupational and physiotherapists, Gay and Iris. Dr. Stockler initiated the meeting to discuss what they’re doing with Trey’s OT and PT and why. Gay and Iris are amazing because they are very humble and willing to collaborate, yet they are highly experienced and knowledgeable (they have won many awards for distinction in their field). They have never worked with a child with MPS before, so they have emailed Dr. Muenzer and Dr. Escolar, as well as spoken with Trey’s doctors up here about MPS II and their findings in Trey. It was a great meeting that gave Gay and Iris (and us) additional information and direction. Because MPS II affects bones, joints, and connective tissue all over the body, Gay and Iris have been keeping watch on all of his joints, with the aim of maintaining range and keeping everything functional. Dr. Stockler, having worked with older kids and adults with MPS II, suggested keeping an eye on his whole body, but paying close attention to his hands. This is where, she said, most older kids and adults have the most trouble; with fine motor activities, such as writing, doing up buttons etc. The hands have a huge impact on day to day life skills and Dr. Stockler wants to do everything she can so that Trey can be an independent person. She wants Gay and Iris, as well as Ryan and I, to do whatever we can to maintain and improve the range in Trey’s hands.

Trey had his carpal tunnel release surgery today on both hands. The surgery was successful in that the surgeon was able to do the release and take out the GAG buildup in the carpal tunnel, however, the nerve in his right hand has been compressed for so long, that she doesn’t think Trey will be able to move his right thumb again (she tested his nerves during the surgery and with the most juice, could barely get a flicker out of his right thumb).
When we went for the complex upper limb consult on November 7, Trey was able to put his left thumb and pinky together, but he was not able to connect his right thumb and pinky. The plastic surgeon said she did not know if the surgery would help this or not because (from my lay person understanding) any nerve compression can lead to permanent damage which means that the communication between the nerve and muscles go and do not come back. The longer the compression, the higher the chance of permanent nerve damage.
So it looks as though Trey does have permanent damage in his right hand. His left seems to be okay. And although Trey has never complained of pain, numbness or tingling in his hands (it was the nerve conduction studies that told us his nerves are compressed), which is common for all kids this age who have carpal tunnel, Hunter Syndrome or not, now hopefully, the numbness and tingling will be gone in both hands, and give him increased fine motor abilities.
I have been told (and it makes sense to me) that this numb/tingling feeling in their hands is so normal for them, they do not know anything could be or should be different. If anyone has alternative knowledge or has tips on how to get damaged nerves back, please email me!!
In my experience, and from what I have been told, carpal tunnel testing for Hunter Syndrome in North America is recommended to start at age five at the earliest (Trey turns five in March). In Europe they start testing earlier. After Dr. Muenzer spoke at the International MPS Symposium in June about starting to test for carpal tunnel syndrome in Hunter Syndrome earlier than age five, I began asking Trey’s doctor’s to test for it ASAP. They listened and here we are today.
We were referred for nerve conduction studies in July and didn’t have carpal tunnel surgery until today. In addition, every single appointment we’ve had have been cancellations: the nerve conduction tests, the complex upper limb consult, and the surgery, and it still took six months to have the surgery done. So if I have any advice to newly diagnosed parents of an child affected by MPS II, it is: have your child tested for carpal tunnel syndrome ASAP. We caught Trey’s too late.

Yesterday, I came into the kitchen and Trey was telling Laurel that tomorrow the surgeon’s were going to fix his hands so they feel better. He was going to go to sleep and when he woke up he would have splints on his hands. He seemed to understand what was going to happen and he didn’t seem upset about it.
We got “the call” yesterday at 11:30am telling us that we had to be at the hospital this morning at 6:30am. Trey’s was the first scheduled surgery of the day at 7:45am. The big butterflies started in my stomach yesterday at 11:30. However, I’ve had some smaller butterflies flying about in my stomach since we got Trey’s surgery date last Tuesday. Avery and Sadie were just getting over a cold (that Trey hadn’t gotten… yet) and almost everyone else we know was sick. Plus, it’s cold and flu season and the boys are in a preschool within an elementary school. Trey can’t have surgery if he’s sick and then next available surgery date was months away. On Sunday I started to feel sick, so began washing my hands so often, they are now raw. On Wednesday, after we got “the call” and Trey didn’t seem to be getting sick, I started getting less worried about the sick factor, and more worried about the surgery and snow factor. It has gotten very cold very fast here in Vancouver and we have a lot of snow on the ground. However, because we don’t usually get a lot of snow, a lot of stuff gets cancelled when it snows. I was worried the anesthetist or surgeon, or someone key in the procedure, was not going to make it. I barely slept Wednesday night and after waking repeatedly to check the snow and wonder if it was time to wake up, I decided it must be close to time, so checked the clock. It was 3:40am.
We finally woke up at 5:30am and got to the hospital by 6:30am. Trey was happy and easygoing until the nurse came in to access his VAD. He was upset, but not hysterical. More of a knowing, resigned sadness; lots of tears and hugs. He was okay again after that, through all the vitals and doctor check ups, until the doctor came in to take Trey to the OR. Trey flat out refused to go, so Ryan had to carry him in. Then it was just stress for Ry and I. Thinking about someone cutting into your child’s hands is awful. After just over 90 minutes, the surgeon came out to tell us how everything went.
Most of the details I mentioned on the News page, but below is the rest: Trey has half casts covered with gauze from his elbows to his fingers. He cannot do much at all, other than hold things in his arms. When he woke up from the GA, he came to pretty quickly, and he did not want his casts on. Within minutes of waking up, Trey was his putting arms between his legs and then squeezing his legs together and pulling his arms, trying to get the casts off. He was miserable and upset. This lasted about 20 minutes and when that was over, we were sent home (we were home by 11am). Trey was great the whole car ride home, and when we walked in the door, the first thing Trey said to Avery was: “These are my casts. They stay on.” And there hasn’t been a fight about it since. It’s now 1:30 and Trey’s doing well. He’s walking around, dancing, eating and a little grumpy, but otherwise, other than not being able to pick anything up, feed or dress himself, he’s back to his usual self. We can take the casts off in 5-7 days. I am frustrated that lack of knowledge in the medical world when it comes to MPS II and carpal tunnel syndrome has quite possibly led to Trey having permanent nerve damage in his right hand, but there’s not much I can do about that. I just hope that Trey’s doctors learn from this experience and that this website might prevent this from happening to another little guy.

Trey will be having his carpal tunnel release surgery for both his left and right hands next Thursday, December 18. I got a call from the wonderful plastic surgery receptionist today, telling me that there was a cancellation and that Trey could have the date if we want it. The next available date would be February at the earliest, so we took it. I just hope that Trey will be able to open his gifts on Christmas morning in double handed splints!?
Last Wednesday, Trey had another hearing test. Although his hearing is better than it was a month or so ago, it is still not at the level it was at in July. I’m not really concerned because Trey’s hearing does seem to be affected for monthes after being sick, so his reduced hearing could still be a result of his recent colds, but it would be nice for his hearing to jump back up.

I was going to keep my write up about our meeting with the government short, but as I began to write, I didn’t want to stop. And now I’m on the verge of tears.
We have been trying to organize a meeting with Bob Nakagawa and Bill Mercer, the two men I was most involved with while advocating for Trey to get ERT funded in BC, for monthes now. They are busy men and we had to reschedule a number of times. We finally met today, and it was well worth the wait. It was just really neat. Bob and Bill were so warm and kind and interested. My dad talked about how devastated and devoid of hope we were when Trey was diagnosed and how we were told he would die by the time he was ten and that we should just enjoy the time we had left with him. He talked about what ERT meant for especially Ryan and I, but also our whole family. He talked about how it gave us our hope back and what that has done for us as a family.
Ryan and I talked about Trey and how well he is doing and comparatively how Trey would have been doing if he wasn’t on ERT. I am glad they were able to meet Trey. I think it is completely different reading about a disease and then meeting a child who has the disease. Trey is doing so well; he looks and acts like other kids his age. This would not be the case if ERT was not funded and Trey was not receiving weekly infusions.
On a side note, I met a mom and the hospital this past Monday who asked how often we are there. I replied that we are there weekly for Trey’s infusion and she said: “Wow. That is too much.” I guess it depends on how one looks at it. Every Monday night before I go to bed, I give thanks for Trey’s infusion and for everyone who is a part of it. I do look forward to the day that I will be trained do Trey’s infusions while we are off traveling, but until then, for Trey’s weekly infusions at BC Children’s hospital, I could not be more grateful.
I don’t want to say too much about what Bob and Bill said, because I have not asked them if it is okay, but I hope it is okay to mention one thing Bill said. Bill, who has been working in the government for 37 years, has never been asked to attend a meeting in which a family was giving thanks. In one way, Bill being in government and given the bad wrap that the government has, I can understand. On the other hand, this boggles my mind. We are so incredibly and eternally thankful, we felt we needed to meet the people who have given Trey this chance at life! I am so glad Bill and Bob took the time to meet us. The whole meeting just felt really good and I’m still feeling its effects. Today is a great day! Thank you!!

I had an appointment with Dr. Stockler today, so have many updates! Since diagnosis, Trey has had 3 cardiology appointments (echo and EKG’s). The first results were normal. In January 2008, his results showed thickening of the valves. Trey’s results from Nov. 3 also show thickening, but what they don’t say is whether these recent results are worse than or the same as the results from 10 monthes ago. Dr. Stockler is going to meet with the cardiologist in December and then meet with me to discuss.
Trey’s sleep study results are not entirely conclusive. We do know that he does not have obstructive sleep apnea, which is what the doctors are looking for (deposits of GAGs in the airway can cause this), and which is great news. His oxygen saturations never drop below 90. However, he is waking more times at night than he did during his last sleep study. If accuracy was 100%, these results would give us some useful information, but because Trey is expected to sleep in a strange place, with strange sounds, with wires hooked up to his body and additional wires trying to be placed on him while he is sleeping, Dr. Stockler cannot tell us definitively what is causing these sleep disturbances. What all this means is that at this point, there is nothing to be concerned about.
I also have news from the complex upper limb consult we went to a couple of weeks ago. It was very interesting. On a scale of 0-10, if zero is no carpal tunnel syndrome and 10 is severe, Trey is about a six or a seven. According to the doctors we saw, protocol is to recommend surgery for any nerve compression at all. The reason for this is because it is not known at what point the nerve compression will cause permanent damage. We are waiting for a surgery date, which will likely be sometime in the spring. Knowing that permanent damage could have already happened or could be happening as we speak, I would like to have the surgery now, but because plastic surgeries aren’t a priority, they do not get as much OR time as other departments, and as a result, we have to wait. All the doctors I’ve spoken to about this tell me there’s no rush, but it’s hard to be patient knowing that the longer he has carpal tunnel, the greater chances of nerve damage being permanent.
An interesting and useful bit of information I learned from Dr. Stockler today, which I have been wondering about since we were given our surprise (sooner) cardiology appointment as well as the carpal tunnel syndrome diagnosis, is why this is happening in Trey’s body while he is on Enzyme Replacement Therapy. Dr. Stockler said that Trey’s heart valves are made of the same tissue as the tissue in his carpal tunnel. These tissues do not receive as much blood (and therefore do not receive as much enzyme) as other parts of the body that respond quickly and well to ERT, so this is why they are not as responsive to the treatment.
Dr. Stockler also showed me a chart of where Trey’s urinary GAGs (build up caused by MPS) have been since he started ERT. Until he started his third vial in July/08, his numbers were up and down. They were much lower than before he started treatment, but they were not consistent. Since July, we have tested his urine weekly, and his GAG levels are quite low. They are still slightly above normal levels, but they are quite low and consistently there. That is great news.
Other awesome news is about Dr. Lorne Clarke’s biomarker research. To be honest, I don’t fully understand it all, but Dr. Clarke’s lab takes Trey’s blood and uses it to try and figure out the course and severity of Trey’s disease. Trey’s levels are very low. They are not normal, but they are very close. Compared to other kids around the world who are close to Trey in age and have been on treatment for a comparable amount of time, Trey’s levels are low. What does this mean? That compared to these other kids his age, his disease is not as severe.
And for one more bit of great news, the MPS II Fund within the Canadian MPS Society has enough money this coming year to fund its own $50,000 research grant! RFA’s will go out this month and the deadline is in mid-February. Have a great weekend!!

A local parenting and family magazine, West Coast Families, featured an article about Trey. Click on the thumbnail, left, to read the story.
We received a bit of information about Trey’s sleep study. Apparently Trey does not have as many episodes of deep sleep as he did during his test two years ago. However, Dr. Stockler does not know yet whether these changes have an impact on Trey’s sleep quality or whether they are subtle and without any consequence.
Trey saw his ENT doctor yesterday before his infusion and had another hearing test as well. His ear infection is gone, but hearing has not changed from his last week’s appointment (which is not surprising), so they would like to test him again in a month. However, this morning Trey woke up with a runny nose (Sadie got a cold last week), so I’m wondering if there’s any point. I guess we’re starting another cycle of reduced hearing, hearing tests, possible ear infection etc. Yuck.
Trey also had his Echo and EKG done yesterday. No results yet. Because Trey has had so many tests with concerning results recently, I will be meeting with Dr. Stockler to go over them: sleep study, cardiology, carpal tunnel syndrome.
This Friday, Trey got in on a cancellation to see Plastic Surgery regarding his Carpal Tunnel surgery. The neat thing is, it’s called a complex upper limb consultation, so instead of me meeting with one plastic surgeon, I will be meeting with between five and fifteen doctors, residents and medical students from plastic surgery, orthopedics and other departments. The reason they are doing this is so that I can get many opinions at one time and so that they can collaborate on Trey’s case. I think this is an awesome opportunity and I’m excited I can be surrounded by so much knowledge at once!

Trey had his follow up hearing test yesterday. The really exciting news for me is how well Trey did in the hearing booth. My mom was with him and said he concentrated so well. The tests were done in short order because he was so cooperative. His hearing is also better than the last test, two and a half weeks ago, showed. His hearing is not as good as it was in July (his last hearing test before he got this cold), but it seems to be improving. The good news is, I doubt Trey has more permanent loss. The bad news is, any time Trey gets a cold, his hearing suffers for at least a couple of monthes.
We also found out yesterday that Trey has carpal tunnel syndrome (CST). I don’t know how severe it is at this point, but Trey is being referred to plastic surgery. I don’t think it is known definitively whether or not ERT helps with CTS. I think there is hope that it can prevent further build up, but I think there is consensus that it does not reverse it.
In cardiology news, Trey has an echocardiogram and EKG next week on November 3. Usually Trey has this done every year, but because Trey’s last echo and EKG showed some increased changes, Dr. Stockler wants to keep a closer eye on his heart. His last echo and EKG were done in January 2008. This was news to me, so I’m still adjusting.