T+266 Caught Offguard

"I'm sorry for calling your son a monkey" came the apology from the 10 yr. old girl.  Coleson and I were at McDonalds yesterday while Peyton was at gymnastics.  He hasn't been able to go many places beside children's hospitals and other places were looking different is the norm so I was caught off guard by the apology.  I hadn't heard the girl call him that, but I had witnessed the mother call her down from the play structure and talk to her just minutes before.  I hadn't paid attention to their exchange but then realized the mother must of overheard the kids or at least her daughter making fun of Coleson and made her apologize for it.   I hadn't practiced responses to such interactions.  I have coached Peyton through situations when she is curious about some one else's "owies" and had responded to others when they were inquisitive about Coleson but had not prepared a response for an apology for rude comments.  I fought back tears as I accepted her apology.  I know he must look a bit odd with all his hair and his unusual facial features but I only see a beautiful boy when I look at him and so I guess I was a bit naive to how he looks to others.  The girl went back to playing and I cringed at the lost opportunity to explain why he looked different.  As we were leaving another little girl (probably 5 or 6) asked why he looked so weird and I was able to tell her that he had been sick and the medication made his hair grow but that it was OK to look different.  Her Grandma patted her head and added that she also had unique characteristics since she was a red head.

I know this wasn't the first time he was made fun and certainly won't be the last, and I'm sure I will get used to it, but it took me by surprise for sure.  I won't let another opportunity escape where I can address the reason why he looks different.  Kuddos to the mother and grandmother who addressed the situations as they did.  I know there will be times where mothers won't reacted in the same educational/informative way.

On a happier note, Coleson's BMT doctor reduced some more meds and took him off 1 more as well as changed our appts. to bi-weekly instead of weekly.  I was starting to worry about his hemoglobin level last week as it was steadily marching down week after week and last Monday was at 10.1 (he needs to be at least at 11.5 to be in normal range).  However, all of his counts including his Hemoglobin (10.8) and electrolyte numbers were up this week.  He also had an echo last Thursday and though we do not have the official results, I'm thinking that if there still any concerns with the pericardial effusion that we would have heard by now.  We also talked about his Hickman line removal/port placement around Mid-May.  I'm looking forward to the reduction in hospital trips though I know they need to be replaced with other appts. now.

I also got to see 2 of my BMT mother friend's (Debbie and Kathy) last weekend.  It was nice to be in the company of people who just "know".  Though our kid's illnesses are different, we have the common bond of the BMT and going through such a life altering experience.

I'm hoping too as we round out this year that my focus will be able to shift from Coleson's immediate needs to doing more fundraising/awareness, etc.  I will soon start to utilize some of the other "pages" of this blog that I intentions of doing from the start.  It's amazing what we've been able to do for the MPS society and Ronald McDonald houses in at least 4 different states already without a real focus so I'm excited to start giving back and helping others that come after us!

T+254 "Well It's Hurlers..."

"Well it's Hurlers" the geneticist said bluntly. The 3 little words I dreaded hearing. It came like a punch in the gut even though I thought I had prepared for it.

In the 3 weeks since first seeing the geneticist I had diagnosed Coleson myself with MPS. There are several symptoms and I could put a check mark next to almost every one. Also, thanks to my boss and her boss, I had gotten in to see another geneticist at Phoenix Children's Hospital, Dr. Aleck who was more experienced in metabolic and lysosomal disorders who also was very confident he had an MPS disorder, but we needed the official lab results for the type.  Despite all this, I still held out Hope that he didn't have MPS and that it was merely coincidence that he displayed some of the symptoms and features.

"Do you have any questions?"
"Hurlers" I said, "that's MPS I, right?" I wanted to make sure of the designation as treatments differed greatly between types.

"Yes"

"No, no other questions".
The geneticist kept speaking but I didn't hear another word.
That phone call that lasted less than a minute would forever change my life.

With those 3 little words I was thrust into the category of "Super Mom", a title reserved for only the bravest of mothers of kids with special needs like Nikki, Laurel and Aggie. I didn't belong in this group. Somehow I had reasoned that their kids were born to them because they possessed super mom powers. I held those mothers on a high pedestal. I did not possess such powers and certainly did not belong on the same pedestal.

There was no time to grieve for the normalcy that was lost. I had done my research in preparation that it was Hurler's and knew that it was critical to get the BMT done before the age of 2 to prevent cognitive decline. There were only 3 hospitals that were experienced in BMTs for Hurler's and U of Minnesota had the most advanced protocol which included an experimental treatment (trials) of 4 inthrathecal injections of the artificial enzyme into the spinal cord in order to get the enzyme into the brain. They also used the other near term treatment of ERT, artificial enzyme replacement therapy, prior to BMT which was not offered at all hospitals. This would immediately get the missing enzyme into his body prior to the BMT, but it would not pass the blood/brain barrier which is why they were trialing the inthrathecal method. Logistically, none of the hospitals were local so we would have to temporarily move for 5 months to have the BMT. There was no time to even worry about this yet. We just needed to get Coleson the Best treatment available.

I emailed Dr. Paul Orchard at University of Minnesota on Saturday and by Sunday he had emailed me back twice, with his entire team on copy. A BMT doctor emailing me on a weekend?! I knew I had made the right choice in Drs./hospitals. Up until then, I had felt all of Coleson's Drs. here had failed us. He had seen several, his pediatrician, his surgeon, his ENT, the first Geneticist (the one who delivered the bad news), none of them had taken Coleson's symptoms seriously or reacted with any sense of urgency. In fact it took 3 weeks to get diagnosed because the geneticist dropped the ball on the lab work (and the MRI). Finally though I felt like we were in the right hands. On Monday, the intake nurse called me at 5:30 am on her way to work to brief me on what I needed to send her so we could arrange the grueling week long baseline testing and evaluation process.

When Coleson was diagnosed he was the only pediatric Hurler case in the valley. Hurlers and MPS belong to the "Rare and Orphan" diseases. The chance of having a child with MPS is 1 in 100,000 to 250,000. In Coleson's case, he was 1 in 5 million living in the Phoenix valley. There were a few other MPS families with other forms but none of the other forms go through BMT and unfortunately some do not have ERT available either. I felt very rare and orphan myself.

Ironically today, on the 1 year anniversary of Coleson's diagnosis, I learned and spoke to another potential Hurler family in the valley. They are in the agonizing waiting-for-the-lab-results stage. Fortunately Dr. Aleck can provide them with a little more guidance than he could us by using Coleson as a reference point.  This is the one of the positives about having a special child, there are numerous ways to give back and help others. Coleson's journey will help others who come after him just as we have benefited from those who have come before us.

I still remember my first phone call with a Hurler dad. Even though we were thousands of miles apart, he was able to give me some hope and lots of info about the journey we were just starting. With that call I felt a little less "rare and orphan". I was also lucky enough to meet him and his boys in person in Minnesota. Thanks Todd for that first conversation and for all the others as well.

This is one reason why I write my blog.  It serves as a historical reference for me and a way to communicate to the masses but also a guide for others.  This is the way the those of us in the Hurler family learn from eachother (blogs and facebook).  This is how I spend my free time, reading blogs and posts from other Hurler and BMT families. We are fortunate to live in a time with these resources and those that came 20, 10 and even 5 years before us did not have these invaluable resources.