MPSIIFund News

We have been wowed and amazed by the overwhelming support for our Gala and cause from the Vancouver and larger film industry. Please check out the video below to view a PSA done  by actors Jeffrey Bowyer-Chapman and Elyse Levesque from Stargate: Universe, for our upcoming Once Upon a Cure Gala on September 24 at The Sutton Place Hotel in Vancouver, BC!! For tickets, go to: www.onceuponacure.com.
[youtube]http://www.youtube.com/watch?v=TZzbFSLxwNk[/youtube]

News Release 

NORTH VANCOUVER BOY FIRST IN CANADA TO RECEIVE BREAKTHROUGH DRUG
Vancouver, BC – On August 19^th Deb Purcell’s Facebook status read “And now I wait. The longest four hours of my life.” Her status was no understatement. The North Vancouver mother of three posted from a North Carolina Hospital where her eldest son, 7-year old Trey Purcell, was under general anesthetic to determine whether or not he qualified for a ground-breaking MPS II Trial Treatment called IT Elaprase, a treatment which would halt and possibly reverse the effects of the rare, degenerative disorder with which he was born.
Trey Purcell qualified for the trial. He will be the first Canadian to receive the treatment when he begins the trial in North Carolina this fall, marking the beginning of another chapter in a young life that has been full of medical firsts.
Trey was born with MPS II, otherwise known as Hunter Syndrome. Although he appeared to be a healthy baby, a series of seemingly unrelated health issues in his first two years eventually lead to the diagnosis that he had Hunter’s, a progressive disease which would cripple his body before eventually shutting it down entirely. At the time of diagnosis in February of 2006, a life-saving treatment called IV Elaprase was on the brink of approval by the FDA in the United States. Upon FDA approval of the drug in July 2006, the Purcell’s successfully lobbied for Trey to access IV Elaprase, making him the first child in Canada to receive the treatment outside of the trial. Then in July of 2010, Deb became the first non-medical professional trained to administer the treatment at home and Trey became the first child to receive the drug in the home setting from a family member.
IV Elaprase is only effective in slowing the physical deterioration of a person with MPS II. It is not able to slow mental decline, a symptom that Trey and approximately 80% of other children with Hunter’s experience. That is the major difference between IV Elaprase and IT Elaprase. IT Elaprase, which stands for Intrathecal Elaprase, is the first MPS II treatment that is able to cross the blood brain barrier and slow, halt or prevent the progression of the disease in the brain.  And so far the reported results have been incredible! It is for that reason that the Purcell’s have thrice traveled to North Carolina for the trial’s rigorous qualification process, a process which culminated in a four hour set of procedures under general anesthetic, testing the pressure in Trey’s central nervous system to ensure that it can withstand the IT treatment, which will be delivered through a port connected directly into his spine.
Trey was fortunate to not only qualify for the trial, but to be randomly assigned to receive the drug. Being assigned to the control group would have meant waiting for 6 monthes before going down for his pressure to be tested again.  Instead, Trey will have his port placed in just over a month’s time and will receive his first IT infusion two weeks later. For the duration of the six-month trial and for the first three treatments post trial, Trey and Deb will travel to North Carolina for 10 days of every month. It’s a significant strain on the entire family, but one that they are only too happy to bear.
Between now and the first treatment, there’s a lot to be done, including final preparations for their Alice in Wonderland themed ‘Once Upon a Cure Gala’ to be held on September 24 at The Sutton Place Hotel. Special Guests will include actors from a number of local shows, including: Once Upon a Time, Sanctuary, Smallville, Stargate: Universe, Stargate: Atlantis, Stargate: SG-1, Riese, Fringe, Supernatural and Eureka. All proceeds will go to the MPS II Research fund. Tickets & information at: www.onceuponacure.com
The MPS II research fund, administered through the MPS Society of Canada, provides research grants to doctors working towards finding a cure for MPS II.
If you would like to know more about this topic, or to schedule an interview with the Purcell family, please email Deb Purcell at purcelldeb@gmail.com. For more information about Trey and Hunter Syndrome, please visit: www.treypurcell.com.

Reading the title is still mind boggling for me. For the past year, I have been researching hydrocephalus in MPS, researching symptoms, interviewing mums whose kids developed hydrocephalus as to what their symptoms were and how they developed, going to doctor and osteopath appointments to try and gain some insight into what Trey’s pressure might be. We have been in line for the trial, then were taken out of line when the criteria was broadened and had to wait to find out if we were back in line again. Our first trip for the LP was postponed when the child in front of Trey qualified and randomized to drug (Trey was back up). A hold on the trial postponed our second trip.
Last Friday, at the end of the work day, I did a little smile. We were leaving Sunday for UNC. The EST business day was done. No one had called to postpone our trip again. Then it was up to me. The only thing stopping us now was if Trey got sick. No pressure. I had 8 travel size Purell hand sanitizers with me (as well as 3 doses a day of echinacea and goldenseal). The people around us on the plane must have thought I was crazy. I was, but for good reason. On each plane ride and then in the rental car and at the hotel, I spent 15 minutes sanitizing. Trey learned how to wash his hands for a full minute and then step back into the middle of the bathroom with is hands up, so as not to touch anything.
All the doctors showed up for their appointments (although one was a close call): blood draws, EKG, consent, vitals every day, vision tests, audiology, IQ, fine and gross motor testing, neurosurgery, pre-care with a nurse to go over Trey’s history before going under general anesthetic, echocardiogram, and pulmonology). As Trey went back for his procedure yesterday (which involved: bronchoscopy, MRI of brain and spine, ABR and LP all of which lasted 4 hours), I just couldn’t believe we made it. He was going to get his LP! I’m still in shock that we made it to the appointment, let alone that he qualified (LP 15.5) and randomized to drug. That will take time.
I am still nauseous and shaking this morning. In terms of anticipation, the only result that was bigger was Trey’s IQ test last summer. There was similar preparation, except instead of keeping him healthy, I had to keep him healthy and as smart as possible (which involved lots of tutors and no TV). That result was bigger than this. If Trey’s IQ had been fine, Trey would have definitely lived a much longer time and he wouldn’t have needed this trial. It took me weeks to recover from the news last summer that Trey’s brain is affected.
This was the second biggest testing day of our life. Not getting into the trial would have meant watching Trey decline. Getting in means that we will likely at least see a stop of progression of brain (and other) disease, if not reversal. It also means Trey is getting all the possible treatment available.
Like I said, it’s still sinking in. Now that he’s in, I get to think about the ‘easy’ stuff, like how I’m going to feed Trey organic food when he’s in a hospital for 4 days with no oven, stove, or toaster and less easy stuff, but still comparatively a cake walk, port surgery… A doctor tunneling through from Trey’s back where the catheter will go, to his abdomen, where the port will go. Or how I’m going to walk Trey through going to sleep every month (especially after he puked for over 24 hours hours after the last one, through security at the airport, on the plane…). But then I come back to easy street. For all these thoughts are thoughts from easy street. They are the thoughts I get to have, as a friend put it, from the rear view mirror. Nothing like perspective to bring in gratitude.
Do you know this is the first time we have not been on hold since Trey’s diagnosis? For four and a half years we lived waiting to find out if Trey’s brain was affected. Once we realized it was affected, we waited to find out if Trey would get into this trial. The hold has been lifted, along with a huge weight off my shoulders.
I am overwhelmed by everyone’s support. Today I do not feel alone with a rare disease. I feel surrounded by a huge and massive community. It is an amzing feeling. Thank you.
I do want to make one more comment. As I sit here writing, I think of Gayle, Ryan’s mum. We didn’t always talk, but I know she read this blog to find out what is going on. She loved Trey so so much. She passed away in June and while I write, she is in my thoughts. She is what made me believe we could do this. The day she died, something happened. I felt Trey would qualify. It was like a switch in my thinking. I was no longer scared, but excited to go to UNC. And that got me through this week. Thank you Gayle. We miss you and know you are with us sharing our amazing news.

In summary: when the IT trial first opened in the summer of 2009, we went to UNC to find out if Trey’s IQ would qualify him for the trial. It didn’t. His IQ was too high. We went back two more times over the course of a year, and still his IQ didn’t qualify. In January 2011, Trey’s IQ qualified for the first time. Once a child’s IQ qualifies, the next step is testing to see if the child’s intractanial pressure qualifies, which is tested via lumbar puncture, aka. LP. The original LP test dates we had in May were back up, so that if the child in front of Trey didn’t qualify or randomized to no drug, Trey would have been up. The boy in front of Trey qualified and randomized to drug, so our trip was postponed. The second time (in late June to early July) our trip was postponed because the trial was put on hold due to problems with the device. The hold has now been lifted, so finally, we get to go back down. Trey’s LP is on August 19. We’ll be in NC from Aug. 14-20. The only thing that could stop us from going down this time is if Trey gets sick and you can bet that I will be doing everything in my power to keep him healthy right before and during the trip. Until then I might not be washing hands quite as much so he gets all the bugs out of his system before we go. I’ll update with results.
With love and gratitude for your support,
Deb

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.

I had a conference call yesterday with Dr. Stockler and her wonderful resident Dr. Clara Van Karenebeek to get results from the shwack of tests Trey recently had. Trey’s ultrasound showed that the little bump on Trey’s upper abdomen is a lymph node. It’s not an abnormal size and it looks harmless, but as with everything, they will follow it. I asked a number of questions about the lymph node, but they didn’t seem to have a lot of answers. They want to see him in clinic (the reason I had a phone call and we didn’t go into Children’s is because I was trying to stay away from the hospital to keep Trey healthy for our trip to UNC!?) to look at it. They said they think it’s behind the muscle, it could be because of weak muscle, but they don’t really know.
In rheumatology, Dr. Petty noticed some thickening of the bone at the outside of Trey’s knees and discussed the possibility of x-ray, but when he followed up with Dr. Stockler, they decided this was not necessary. It’s likely a part of MPS and is again, something to follow. We’ll see him in a year again.
The biggest issue we discussed is carpal tunnel syndrome. Trey had bilateral carpal tunnel release surgery a few years ago to relieve the pressure that build up of GAGs was causing to the nerve in his carpal tunnel. In a nutshell, nerve conduction tests are done to find out how quickly the message in the nerve travels through the carpal tunnel. Before Trey’s surgery I was told compression of the nerve was about 7/10 in both hands, so quite high. We didn’t do follow up nerve conduction tests after surgery until now because Dr. Stockler would not have re-done the surgery anyways, even if the pressure was high again. The reason is, only so many carpal tunnel releases can be done in a lifetime because with repeated surgeries the scar tissue can compress the nerve and do as much damage as the GAG build up. In addition, it’s not a pleasant test (think electric shock in your hands), so no reason to do it unless necessary.
And the results from this year: Trey’s nerve compression in his carpal tunnel is the same as it was before his surgery. Which to think about is painful. Poor Trey. So we discussed why. And no one knows. Dr. Stockler saw Dr. Muenzer this past weekend and asked him as well, and still, there is no clear path for what to do. I fought for Trey to have nerve conduction tests as early as he did. This is not protocol in Hunter Syndrome because I guess doctors didn’t think it was an issue so early on. As a result, there is no information about kids with carpal tunnel syndrome in Hunter Syndrome so early. In addition, no one is sure why the pressure is so high. There are three potential reasons: 1. The message just travels slower through the carpal tunnel in Hunter Syndrome than in the rest of us, 2. The damage done by compression before Trey’s surgery was permanent and his nerve could not recover, and 3. He just has new build up of GAGs causing compression again.
We will be referred to the plastic surgeon again, to discuss this in detail. Dr. Stockler and Dr. Muenzer also discussed a new technology that uses ultrasound to look at the nerve, so they can see what is happening to it, so I am now on a mission to find out what this test/technology/procedure is called and find out where it is done (Dr. Stockler and Van Karnebeek are not sure it’s done here). I am also on a mission to find someone who has more of a clue about carpal tunnel syndrome in Hunter Syndrome. I’m hoping there is one!
I think about receiving news like this and the fact that it didn’t really upset me (a bit yes, but not to the point of tears and not to the point where I can’t stop thinking about it). Maybe it’s because I have bigger things to be upset about. I find it somewhat strange that I don’t get more worried about a lymph node or severe carpal tunnel syndrome. I guess this all pales in compares to the trial. Self reflection… interesting.

Well, I don’t really know what to say. The UNC Institutional Review Board has put the trial on hold. Kids who currently have implanted devices and are receiving drug, will continue, but everyone else (which means Trey and everyone after him), are on hold. And it’s not even a drug thing. The drug is making miracles happen. It’s the device/port used to get the drug into the brain and central nervous system that is the problem. A number of the boys in the trial have had to have their ports replaced for various reasons, which means more surgeries, which means increased risk.
However, when Dr. Muenzer asked the parents whose children needed to have their ports replaced if they wanted to remove the device and stop the trial, the parents looked at him as if he were crazy. I would have done the same. I paged him twice yesterday (and he amazingly- he is my hero- called me back both times, even though he wasn’t ‘working’) to figure out a way to keep our trip going, for some way to convince the IRB to remove the hold quickly, so that we can still come down for our trip.
Each time we have gone down for assessment, Dr. Muenzer discusses with us that the worst scenario of this trial is death. Each time. I imagine that for Melissa Thomas, the mum of the first child in the trial, this consent may have been a little harder to sign than for the rest of us who now know what brilliant things this drug is doing for our kids. However, I would have done it (I went down to do it, only Trey’s IQ was too high at the time) and I know that many other parents would have done it as well.
You see, in the severe form of Hunter Syndrome, where the brain is affected, we know the outcome. Loss of skills, loss of personality, no sleep along the way, vegetative state, death. So when I found out that the IRB had put a hold on the trial, and although I understand that from a removed, medical board kind of place, why and how they would make such a decision, from my perspective, I am shocked and blown away. This drug is fixing hearts, fixing hearing, bringing IQ’s back up, to name only a few. As a mum whose kid is on a path to you know where, the idea to stop a trial that is fixing at the very least hearts, hearing and brains, not to mention the possibilities for spinal cord compression, eyes, hydrocephalus and the list goes on and on and on, in which the only problem is the device, is crazy. Why they could not discuss concerns, discuss remedies and change criteria all while continuing the trial is beyond me.
I know the port issue needs to be resolved. Long term I would not want Trey to have multiple surgeries either. But if it meant Trey got life saving drug in his brain each month, I would still do it. Which is what the parents of the kids currently in the trial are doing. They know how lucky they are to be getting this drug. There are so so many remedies to be tried that could all be done while the trial continues. It is my hope that the IRB and any other governing boards who are concerned, will realize how immensely the benefit outweighs the risk and will lift the hold, so the trial can continue, while working to find a port/device solution. Knowing and seeing what this drug is doing for the boys in the trial so far, I don’t want to have to watch Trey progress anymore.
Here is a link to a mum’s blog, who has become a good friend, whose son is in the trial: http://networkedblogs.com/ja7UP
I’ll update as I know more.
Love Deb
PS. The picture above is one of my favourites of Trey & I. We were dancing and having such a blast. One of those moments when all the stuff I’m talking about above, doesn’t even register. All that mattered was that moment. The photo was also taken before Trey started ERT and his ‘features’ were more prominent. It’s raw and real & I just love it.

Ry’s mum passed away yesterday, so we are filled with grief. I’m not going to go into more because it’s Ry’s mum and not my place. However, I got home from the hospital to an email from Dr. Muenzer asking to call me this morning, which of course I was thrilled to have! We discussed a number of things, but I’ll only mention a few newsworthy bits here. The first boy in the 2nd cohort of the IT trial was sick for his scheduled device implantation surgery, so that was re0scheduled. My biggest question for Dr. Muenzer around that was pertaining to our trip. Because there are so many strict timelines within this trial, I wanted to know if the port implantation postponement would push our trip. Dr. Muenzer had good news, it did not. We will be in North Carolina for final trial assessment from June 26-July 2. The LP, the big ‘in or out’ test, is on Canada Day (for you Yankee’s, that’s July 1).
I also got other great news about Trey’s eyes. He will not go blind. I imagine it’s lack of knowledge about MPS & how that affects the eyes, but the opthalmologist Tuesday told me that first Trey’s night vision would be affected, then his peripheral vision, then his central vision. Given what was going on with Ry’s mum and with my hopes for this IT trial (that it will work miracles and maybe even help Trey’s eyes), I’d pushed this awful news out of my mind, as far as it could go, but Dr. Muenzer’s news was SO great to hear. The way he told it to me, the retina has rods & cones. Cones are responsible for colour vision and rods are responsible for night & peripheral vision. Only the rods in Hunter Syndrome are affected. Dr. Muenzer said that in adults with MPS II, they may have trouble with night vision and driving, for example, but they do not go blind. Phew. Wish doctors giving such crucial information and bad news would do their research before freaking parents out.

The above photo is of Trey & Nicklas Harkins (MPS I) at the MPS Cup a couple weeks ago. It’s not the best photo of Nicklas, but Trey was so proud and excited to take a picture with Nick (he looks up to him getting infusions and having MPS and all), I thought I’d post it. It’s pretty cute. 🙂
We had a bunch of follow up appointments in the past week and a half: nerve conduction tests, abdominal ultrasound, cardiology, rheumatology, opthalmology & orthopedics. We’re waiting to hear on nerve conduction & ultrasound. However, the U/S tech noticed something in his abdomen & asked me if anything has been protruding. We noticed this about 8-9 monthes ago and Dr. Muenzer told me what it is back in January, can’t think of the name right now (pregnant women get it after having babies when their abdominal muscles are stretched apart in the middle of the abdomen). Anyways, we now have a picture of it, so when I go to speak with Trey’s biochemical doctor, she can fill me in. Cardiology was good. No changes in a year and a half, which was when we saw Dr. Human last. Rheumatology was relatively good. Not many changes, if any, to his joints, but Dr. Petty noticed something on his knees, he said he’d follow up with Dr. Stockler (biochemical doctor) because he has no idea what it is and get back to me on. Orthopedics was also good. Trey’s neck (which can be unstable in MPS) has not changed in a year since we were last there & his L1/L2 (where kyphosis happens) is better than a year ago. We’re going to have an MRI of his spine done to check spinal cord compression.
The bad news, that I haven’t adjusted to yet, is about Trey’s eyes. Dr. Gardiner noticed retinal changes (which is rare in Hunter Syndrome, ha!). She said she should be seeing all orange when she looks into his eyes, but she saw orange with yellow spots. Trey’s vision test is not changed from last year, which is good and means his retinal changes are not affecting his vision at this point, but they will. And the bad thing about this is that it’s a progressive disease and glasses cannot correct this problem. Retinal dystrophy, as Dr. Gardiner called it, first affects night vision, then peripheral, and then all vision.
At this point, I’m holding it all in, which is why the lack of emotion here. Ryan’s at the hospital for his mum right now who is on a breathing machine & we have this trial assessment coming up. I just wonder how much can go wrong in someone before their bodies give up… At age 7, Trey’s little body is already dealing with so much. Okay, too much emotion there. I’m leaving for yoga. And gonna breathe.

For the second year in a row, our friend Grizz Salzl put on a charity poker tournament at the Edgewater Casino, to raise funds for our MPS II Research Fund. The big game this year, was yesterday. Ry is not one for details (he wouldn’t tell me how much $ he lost, but it’s okay because if our savings are going to disappear, research for Hunter Syndrome is a good place for our savings to disappear to!), but he did say it was a blast, that the casino donated all the food for the day (people had to pay, but paid into the Fund stash, THANK YOU Edgewater!), and that overall, the tournament raised $2,000 for our MPS II Research Fund. THANK YOU Grizz for organizing this!
We are touched beyond words by everyone who joins in our plight to raise funds for research into a cure for Hunter Syndrome. Hopefully most of you will never have to know what it feels like to have a good friend raise funds for research into your child’s progressive disease, but if you do, it feels… well, like my heart is swelling or growing. To Grizz and everyone helping us with and supporting our massive Gala, thank you.
You know those ‘Chicken Soup for the Soul’ books? Inspirational stories about random acts of kindness, that kind of thing? This may not be random, but I get to be touched by those inspirational people regularly now. Although this rare disease has led to waves of unbelievable amounts of stress, the generosity and kindness of our friends, family and community has countered that. Last week a friend of a friend joined our plight. A mom whom I’ve never met or heard of before, Tiffany Haziza. And then there’s ALL of our Gala volunteers (too many to mention, how amazing is that!) who have stuck it out for monthes now, keeping with our cause through school and relationship break ups and life… This journey is definitely one of emotion. Unthinkable fear one one side and immense beauty on the other. Many people don’t want to put themselves in our shoes, understandably. Our diagnosis and journey is everyone’s nightmare. When couples are pregnant, all they want is a ‘healthy’ child. So when people like Grizz, Tiffany, our volunteers etc., can get dirty and emotional and imagine what it is like in our shoes, I am moved, to tears. Thank you to everyone willing to do this. You bring so much love into my life and make this such a wonderful life to live.