MPSIIFund News

After speaking with some parents and finding out the recommendations of doctors from Shire and doctors involved with the trial, we have decided to slow Trey’s Elaprase rate back down, so he is once again maxxing out at 40mL/hour. He only spent one infusion maxxing out at 48mL/hour, last week, with no reactions.

Trey is on the cover of the April issue of West Coast Families magazine and information about our up coming fundraiser, “Time for a Cure” is inside. To view a PDF of the cover photo, inset, and information about the fundraiser, please click on the thumbnail, left.

Trey had an echo, ECG and visit with a cardiologist today, Dr. Human. Although Trey has had a number of heart tests in the past, this is our first visit since Trey’s diagnosis with a cardiologist. Dr. Human sees all the kids with MPS at BC Children’s hospital, so I am really happy to finally have contact with him! Until this point, the results of Trey’s heart tests have been given to me by Trey’s Biochemical Disease doctors, which is fine, but the interpretation of the results are second hand, and all the questions I have about the results have not been quickly or easily answered. Dr. Human was able to look at all of Trey’s echos and ECG’s from the past, as well as the results from today, and give me his thoughts. So here it is: although Trey’s heart has progressed slightly since his tests in January 2008, Dr. Human described Trey’s heart problems as trivial. Trey has trace to mild mitral valve regurgitation and trace aortic valve regurgitation. Dr. Human said we don’t need to come back for a year!
Trey’s infusion rate was also increased today. Instead of maxing out at 40mL/hr, he is maxing out at 48Ml/hr (he starts out at 8mL/hr then after 15 minutes increases to 16mL/hr and after another 15 minutes increases to 24mL/hr, 32Ml for 15 minutes, 40mL/hr for 15 minutes, and now ending and staying at 48mL/hr for the rest if his infusion). I don’t know yet if I’m completely comfortable with this, as I have heard that a faster infusion rate might mean less enzyme is absorbed, but this increase is not huge, so I have a bit of time to look into it and ask more questions.

Trey had an audiology check up today. His hearing is about the same as it was at his last check up in December. To give you an idea of where his hearing has been and now is at, in his first hearing test after diagnosis which was in July 2006, he had mild loss in the low frequencies sloping into moderate hearing loss in the high frequencies. In July 2008 his hearing was at this same level. In September 2008 we went back for another assessment, while he was getting over a cold. He continued to have mild loss in the low frequencies, but this time, his hearing loss fell to moderate-severe levels in the high frequencies. The same happened in December. Trey was getting over a cold and his hearing was the same. And again, this happened today. Trey is just getting over a cold. His audiologist said she’d describe Trey’s loss as mild to severe.
I really wish winter would be over so we can have an accurate measure of his hearing. This has only been the third time Trey’s been sick all winter (the rest of us have been sick at least 5-6 times), but it has just turned out that his hearing tests have happened right as Trey’s recovering from a cold. I would like to know if his permanent hearing loss has declined or if it is just due to colds, fluid and drainage from his ears. However, it doesn’t matter for Trey day to day whether his hearing loss is permanent or conductive because the mild to severe hearing loss is how he hears and what he has to deal with.
Trey is also getting new ear molds. One green and one blue, like his friend Duke. And, I found out today that once a child reaches the age of five, services get cut off! We now get to pay for ear molds and batteries when he needs them! Fun.
The neat thing about today’s appointment was that this was the first time Trey was able to make it through the duration of the test. This was the first time that the audiologist said: “We’re done!” as opposed to me saying: “Okay, I think we’re done. Trey’s reached his limit.”

A story about Trey is in the Spring 2009 issue of “Speaking of Children,” a magazine published three times a year by the BC Children’s Hospital Foundation. Click here to read the story.

It took three tries to get Trey accessed on Monday, the first time using his new VAD. The first time, Trey’s nurse, the head of the Medical Day Unit where Trey gets his weekly infusions, could not flush any saline or draw any blood. It seemed stuck. So she took the needle out. The second time, there was a strange tinge of blood that came out when she accessed him, but she could not draw any more blood and when she pushed the saline in, his whole chest started to swell. That was a bit scary, and then when she pulled the needle out, the saline dripped out of the hole (the saline was being pushed into the tissue surrounding his VAD). At this point, Trey’s nurse called the head of the IV team at the hospital and asked her to come up and try accessing Trey’s VAD. To give her the best chance at getting Trey’s VAD to work, the IV nurse used a 1 inch, 18 gauge needle, which is significantly bigger than his usual 3/4 inch, 22 gauge needle. By this time, we’d been at the hospital for quite a while and I was really worried we were headed for another surgery, so when it worked on try number three, and the IV nurse was able to get blood return and flush saline, we were all ready for a party!!
Almost all of our local family and a few hospital staff and friends came to the MDU this past Monday, February 2, to celebrate two years of Trey being on ERT. Grandma Gayle brought balloons, Terra from the BC Children’s Hospital Foundation brought capes for the boys and a toy kitten for Sadie, Omi made a cake, Trey and Avery made cupcakes, and Sue brought a gift for the boys and a donation for the MPS II Fund! It was lots of fun and a great way to spend the day at the hospital!!

On Monday, February 2, we had a party at BC Children’s hospital to mark two years of Trey being on Enzyme Replacement Therapy. For the boys it meant cupcakes, lots of family and friends, balloons and a few presents. For Ryan and I it meant so much more. The marking of this anniversary is always full of mixed emotions for me, for less than two weeks later, we mark another anniversary. That of Trey’s diagnosis.
In this month we watched as our hopes and dreams for our beautiful little guy were crushed with the news that our less than two year old child likely had a progressive and rare disease that might only keep him with us for just over a decade. Although the specific memories have faded, the feelings of that day and those first weeks and monthes have not. And then one year later, in this same month, we watched as the enzyme that Trey’s body cannot produce enough of, dripped into his body, in the form of Enzyme Replacement Therapy at BC Children’s Hospital.
With regards to MPS, and since Trey’s diagnosis, two days stand out in my mind as markers of hope and the belief that Trey will live a long, healthy and fulfilled life: meeting Simon Ibell and Trey’s first Elaprase infusion. It is a very strange feeling. Two anniversaries, so close together, which bring forth feelings in me of complete opposition.
Yesterday Ryan and I were speaking with someone who asked us about Trey and the enzyme replacement therapy he receives. He asked: “So what does this treatment mean for Trey?” I don’t think he was aware of how loaded this question is. Depending on the day and moment, this question is quite likely to bring forth tears. Tears of fear, tears of uncertainty, tears of hope. On this particular day, though, both Ryan and I were both able to quickly stuff our emotions in a box and answer the question as if it did not strike us at the deepest level of our beings. And then, once we were able to compose ourselves, we had to ask: who’s perspective is he asking for? Mine? Ryan’s? Trey’s geneticist? Or his biochemical disease doctor? Because there are no definite answers to this question, the answer will change depending on whose perspective is given.
One doctor we know would probably give us an answer that would make Ryan and I nauseous, angry and devastated. Another would give us an uncertain answer, but with hope attached.
Ryan and I would also give slightly different answers. I waited to see if Ryan wanted to answer, but he did not jump in to respond and because I am more often able to answer this question without tears, I thought I would spare both Ry and I. Him the embarrassment and me the pain of watching my partner suffer.
What does ERT mean for Trey from my perspective? For what it’s doing in him right now, I am completely confident. It is allowing him to grow and be with and be like his peers. Besides his hearing loss, which has the result of making his language a little more difficult to understand, he does not appear or act any different than his peers. I know his difference is progressive, but I do believe ERT is slowing down or stopping much of the progression, and given what I watch in Trey day to day, he gives me an incredible amount of hope, and I believe he is going to be able to live a full and wonderful youth. I will admit I don’t look really far into the future for Trey, but that is not because he has MPS. I don’t do it with Sadie or Avery either. I just have a hard time envisioning my little munchkins as drivers or workers or parents.
What I do know is this: when conversations come up with Trey and Avery about being dads or what they dream about and what they want to do with their lives, in my initial reaction/response, I do not think or respond any differently with Trey than Avery (or Sadie, although she doesn’t enter these conversations much!). After my initial thought and response, I do often get a little voice in the back of my mind, reminding me of our situation, but I push it out as quickly as I can. What this tells me is that in my heart I do believe that Trey will grow up strong and live a full and great life. I believe in Trey with all my heart. ERT helped to bring these hopes and dreams back- the ones that were crushed with our initial diagnosis.
However, although I believe in Trey and think he will do amazing things in his life, he still does have a progressive disease for which we have numerous check ups and hospital appointments. Most of the time this is not a big deal and has become a normal part of our lives, but for those times when the news is not great or when Trey is upset because of what is being done to him, I am so grateful for all the support we have. So on this dual anniversary, I want to thank all of you who support us, in all the ways you do. Whether it’s in donations, in hugs and love and thoughts even though you don’t/can’t understand what it is we’re going through, in the form of knowledge, support, and funding from doctors, nurses, administrators, and government workers, or from families who know what it is like growing up and living with this, thank you. Your support keeps me going and makes the fight continue to be worth fighting for.

Trey is home from the hospital and doing well. We got a call from the hospital this morning asking us to come in earlier, so we were at the hospital by 10:30am and home by 2:00pm. There was not a crack in the catheter (the surgeon tested the VAD once he took it out of Trey). From what the surgeon could tell from seeing and testing the VAD as well as the series of x-rays taken last Monday, the fluid was backing up and coming out of the catheter, into the surrounding tissue, at the end/tip of the catheter. So either the catheter was blocked or came undone. Exactly what happened was not clear, but it was not a problem with the actual VAD. The new VAD is on the opposite side of his chest, in the same place. The surgeon told us our options for the new VAD location (we also looked into what the VAD is made of, making sure it did not contain PVC), got an anatomy lesson in the process, and ended up putting it there. Trey was a mess when he initially woke up and didn’t improve until we left the hospital. Once we were gone, however, Trey was fine, and is now great, watching movies and eating homemade frozen yogurt. He just wanted out of the hospital. I am really hoping we get a break from Surgical Daycare, sedatives, and general anesthetics for a while. We’re all sick of it!!

Trey’s VAD replacement surgery is this Monday, January 29, 2009 at 2:00pm. His VAD lasted almost exactly two years. I have an appointment tomorrow with the pediatric general surgeon to discuss details.

Bad news first. Trey needs a new VAD. Usually, when Trey is hooked up for infusions, he sits and watches TV. He barely even notices the needle or when the nurses flush saline through his port. Yesterday, as Trey’s nurse was pushing saline into his VAD, Trey began to squirm and then as the nurse kept flushing, he reached for me in pain. After talking to the IV team and getting doctor approval, the nurses sent Trey down for a Line-O-Gram, or dye study. Radioactive dye is pushed through Trey’s VAD and then a series of x-rays are taken to follow where the dye is going (sounds healthy, hey?). Apparently there is a crack in the catheter, allowing fluids to enter the tissue around Trey’s shoulder. This is what was causing him pain. Trey ended up having his infusion done through his hand yesterday. We’re waiting for a call from general surgery and I’ll update when we know when his surgery date is.
There was good news though yesterday too! Thank gosh. Trey’s Biochemical Disease doctor finally got the “MPS” cardiologist to interpret all of Trey’s results since birth. The GAG build up and Mitral Valve regurgitation from his November 2008 appointment has not progressed from his January 2008 appointment!! This is great news!! More than great news. We will also now be having appointments with this cardiologist instead of going through Biochemical Disease to find out results, which is good.