Thursday, May 28, 2009

A summary of our 1-Year Post-Transplant Check-up!

Get comfortable, folks.

So sorry for the delay in posting this. It is definitely a long read, but for those who are interested here is a basic summary of all of our appointments from our trip to Minneapolis. I know I gave some info already, but I think I'll just do a general run-down of each area all in one post!

Neuropsychology- This appointment was to do an assessment of Gracie's skills and development. Dr. Bjoraker was pretty pleased with Gracie's progress all in all, but there are a few areas where she is delayed. Her biggest delay is in her Gross Motor skills. This is because Gracie is still crawling to get where she wants to go. Once she starts walking full-time she'll be back on the right track to catching up. And to our delight, she is walking more and more everyday! Her Fine Motor and Expressive Language skills are only slightly behind where they should be and we are happy to hear that. Her Receptive Language skills are right on track for her age so we were overjoyed to get this news.

Genetics- Dr. Whitley did a brief exam of Gracie in order to check her progress post-transplant. He feels that she is doing great and has had no further progression of the disease. He had us collect a few urine samples for GAG (glycosaminoglycan- the stuff that accumulates in Hurler patients) analysis. We have not gotten results back from these test yet. We also discussed briefly the ongoing research in gene therapy to attempt to cure Hurler's and then had a chat regarding testing in possible future pregnancies since Jimmy and I do eventually intend to have more children. We left this appointment feeling very encouraged regarding our options, as difficult as they may be.

Cardiology- Dr. Braunlin was very pleased to see Gracie and had very good news to share about her ECHO. Apparently Gracie's mitral valve leakage has not progrssed at all and in fact may have possibly made a little bit of improvement. The walls of her heart have thickened a bit, however Dr. Braunlin thinks that this is only due to Gracie being on the CSA (steroid mediciation for anti-rejection) for an extended period of time and expects the heart walls to go back to normal thickness once she is off the medication. Dr. Braunlin then kicked us out of her office and pronounced Gracie "too healthy to be here". We loved it!

Pulmonary- Dr. Regelmann spent only a short time with us listening to Gracie's lungs and getting a history of all respiratory events in the past year. This was a short list, and he was pleased to hear that. He told us that Gracie's lungs are in excellent shape for a post-transplant Hurler kid, so he advised us to be sure to get vaccinated come flu season and sent us on our way.

Opthamology- Dr. Bothun went over the preliminary results of Gracie's retinal scan which appears to be normal. Her corneal clouding has stabilized and even shown the possibility of improvement but is still categorized as level 2- mild to moderate. However, Dr. Bothun agrees that her tolerance of light has certainly improved which is more important than the actual level itself. Her vision appears to be very good, still showing a small amount of far-sightedness which is completely normal at this age. All in all a good appoiontment, although Gracie was not pleased to have drops in her eyes and the dreaded speculum. Yikes.

Occupational Therapy- From what I could tell, Gracie did very well on her OT assessment. We have not gotten official results from this testing back yet though. Likely the recommendation will be to continue her Early Intervention therapy sessions and bring in Valerie, the OT on a more regular basis.

Physical Therapy- Well, sadly Gracie did not impress the PT as much as she has everyone else. They were disappointed to learn that Gracie was not walking exclusively yet. However, they did point out that this was her main point of Gross Motor delay and that once she gets on her feet, she will be able to catch up to the normal range quickly. We're happy to report that Gracie is doing more and more walking everyday and we are sure she will be entirely upwardly mobile very soon. We're working on teaching her to stand independently without help which we believe will be a big step in getting her walking full-time. We are still awaiting the official results from this assessment as well.

Audiology- Another great appointment. Gracie did very well on this exam and we were pleased to see that her hearing function is indeed normal. Testing showed that only the highest frequency was not heard, which the audiologists explained was totally normal in kids with ear tubes. So Gracie actually passed her first conscious hearing exam!!! This is an achievement because her last pass was actually on a test under anesthesia. Go Gracie!!!!

Neurology- This was actually a difficult appointment as we adjusted to our new Neurologist who has taken the place of our beloved Dr. Charnas. We could tell that Dr. Rothman is still getting his feet wet when it comes to this Hurler stuff, however he did have a few things to tell us regarding the results of Gracie's MRI of the brain. Apparently Gracie has slight narrowing of the Foramen Magnum which is basically the area of the neck at the base of the brain. Of course, we were not happy to hear this news, but after second discussion about this with our nurse coordinator who was able to help explain things a little more clearly, we are feeling a bit better about it. This narrowing (known as stenosis) is very common in Hurler patients. Gracie's slight degree of narrowing is not enough to cause much concern as far as going through any procedures to try and correct it at this time. However, we were told that we should be slightly more cautious regarding Gracie's neck than normal and avoid any activities that could cause injury in the neck area such as trampoline jumping, gymnastics/tumbling and other things like that. We were told that in most post-transplant kids, this particular condition does stabilize and requires no surgical intervention, however the chance does exist that Gracie may need some surgery in the future to correct this. Lets hope not. All other aspects of the MRI were normal.

Endocrinology- We met Dr. Polgreen for the first time on this visit and we were instantly enamored with her. What a wonderful physician! She is very knowledgeable in her field and also very thorough, while still personable and capable of explaining everything in a manner that makes it all easy to understand. As far as endocrine goes, Gracie looked pretty good. Her thyroid appears to be functioning normally and her vitamin D level was very good. Her growth velocity was slightly low (meaning how much she grew in the past year), however her height is well within the normal range. We discussed the common problem of growth decline in Hurler patients and the continued research of the use of growth hormone to maximize growth potential. Jimmy and I are both in agreement that we will do what we need to in order to allow Gracie to grow as close to normal height as she can possibly achieve and Dr. Polgreen was pleased to hear it. She said that while it is unknown whether or not Gracie will experience growth issues, since it is a common issue with Hurler kids we should basically expect it. If needed, Gracie will be able to take the growth hormone somewhere around 5-6 years old. This will not be a fun process as it will require a daily injection for as long as she is required to be on it, however we will do what we have to for our girl. Other than the discussion, we were told that Gracie looks wonderful and that nothing needs to be done or corrected at this time.

BMT Clinic- We were so excited to meet with Dr. Tolar who is our main BMT doctor and an amazing man. He walked in the door with a huge smile on his face, so excited to see our girl and how well she is doing. He was quite pleased to see how far she has progressed, how healthy she has been, and all-in-all what a happy girl she is. It was such a wonderful appointment. We talked about continuing to wean Gracie from the CSA and then restarting her vaccination schedule again. He also showed us some blood test results which really made our day. All of Gracie's blood counts are normal, and her T-Cells, Killer Cells, and Natural Killer Cells are all in the normal range, despite the continued immune suppression from the CSA medication!!!!
This means one important thing- Gracie has a new, strong, and butt-kicking immune system! Go Gracie!!!! There was a small celebration in our little exam room when we heard this news. :) After hugs all around and confirmation that all of the "rules" regarding Gracie have been lifted (as long as we use common sense, of course), they sent us away with a thumbs-up and told us they'd see us next year.

Orthopedics- We were originally scheduled to see 2 separate doctors regarding orthopedics, one for hands and one for back, knees and hips, we actually ended up only seeing the second. Our Nurse Coordinator informed us that there is no concern with Gracie's hands at this time (many post-transplant Hurler kids develop carpal tunnel syndrome and require surgery to repair it), and so our first ortho appointment was given to our friend, Wyatt. We did see Dr. Walker regarding Gracie's spine, hips, and knees though. After an x-ray we were able to see that Gracie shows no sign of scoliosis and her kyphosis (malformation of the lower spine which is very common in Hurler patients) is minor and presently stable and showing no need for any kind of correction. The x-ray showed that she has slightly knocked-knees which is again very common in Hurler kids, but still not enough of a concern to do anything about. The hips showed that she does suffer from a very common malformation of the hip sockets in that they do not completely curve around the ball of the hip joint. This malformation occurs due to the GAG build up which makes the hips not curve around. Of course with the introduction of the enzyme needed to remove these GAGs to save Gracie's life, it also removes the GAGs that created, in essence, a faux hip socket. Most Hurler kids will require a surgery to correct this at around 5-6 years old, but it is unknown if and when Gracie will need this correction done. Its basically a wait and see kind of thing. Usually when this surgery is done, they also go in and fix the knees too if it is needed. We are preparing ourselves to have to do this in the future, but only time will tell when it is needed. So, while this was not the news we had hoped to hear, it did not come as a shock to us since most Hurler kids deal with this eventually.

Ok, so I think thats everything. We are still waiting for the results of our urine GAG tests and our Enzyme level test. We did hear the there's a chance that the enzyme level will have to be redrawn as something got screwed up in the lab and Gracie's blood sample was accidentally refrigerated. Oh well.


Wednesday, May 20, 2009

Heads up!

I'm in the process of writing up a long and detailed summary report of our appointments in MN, but I got an email from our Nurse Coordinator there with some amazing news and I can't wait to share it.

Gracie is still 100% engrafted with her donor's cells!!!!! We could not be happier to hear this. As time passes, the risk of losing engraftment lessens. We're so glad to still be fully engrafted at 1 year post-transplant.


Saturday, May 16, 2009

Its been an exhausting...

but very good week.

We leave tomorrow to head for home and we are frantically packing and cleaning our room here at the Ronald McDonald House. I have lots more to update you all on regarding all of our appointments, but it will have to wait until we are back home and have a bit more time on our hands. Sorry to disappoint.

Please pray for safe journeys home for us and our wonderful friends.

Thursday, May 14, 2009

We have a favor to ask...

our loyal and wonderful friends and fans.

Tomorrow, Friday, May 15th, is National MPS Awareness Day. In honor of the children who fight their daily battles with this disease, and also the ones who have become angels, we ask that you wear purple on this special day. A ribbon, a shirt, a pair of socks... whatever you have to show your support for those affected by MPS and their families.

For more information, please visit

Thank you and we love you.
We're waiting to see Dr. Braunlin in Cardiology to learn the results of the Echo. We're hoping for stable or decreased leakage from her mitral valve.
Well, I learned how to update the blog via text message from my cell phone. The downside is that I can only post messages that are this long! D'oh! :)

Wednesday, May 13, 2009

Gracie needs a new pair of shoes!!!

Well, my time for blogging is short these days as I have discovered. :(

It turns out that the only time I have for blogging is late at night when I'm dying for a good night's sleep in a comfy bed. Since we all know that won't happen in a SleepNumber bed no matter what, here I am with a summary post of the last few days.

So I left off with Dr. Whitley on Monday, and after leaving his office we headed downstairs to get a chest x-ray and an EKG. Gracie screamed through the x-ray, but surprisingly, she napped during the EKG which was nice.

That was Monday. Are you tired yet?

Tuesday was expected to be a lazy day for us. Gracie had an MRI and Retina Scan under anesthesia scheduled in the morning and the afternoon free. Unfortunately, that was not how it happened. We arrived at the surgery wing at 10:30 am and we were quickly shuffled back to the pre-op area. We got to our room and looked around the corner to see Rylie and her parents whose surgery had been scheduled for 7:30am. They were still waiting. This was not a good sign.
Long story short, Gracie did not go into surgery until 2:30 and did not come out for almost 3 hours!!!! We finally dragged ourselves back to the RMH around 7:30 pm with an extremely grouchy and hungry baby and 2 worn-out and stressed parents. Yuck.

Today we hit the ground running yet again with an appointment with Opthamology, Pulmonary, and an Echocardiogram. After the Echo, we went to the rehabilitation center to see Occupational Therapy and Physical Therapy specialists and do some developmental testing. She did well in OT, but the PT was a little disappointed that Gracie is not walking everywhere yet. :( We promised her that we've been working very hard on it, and she said that its really her biggest delay right now. She also recommended that Gracie get some new shoes with hard soles to help stabilize her ankles and feet so that she can gain confidence and possibly have better balance. So after leaving the Rehab Center, and a quick trip up to 5D to see our special nurses from transplant, we hopped in the car and headed to Target to get Gracie some hard shoes.

Cute, huh?

And just for fun, here is a quick shot of Wyatt, Rylie and Gracie with their Daddies- Todd, Lyle, and Jim.

The kids have all enjoyed playing together when we have a chance, and its been so nice to have good friends here.

Tomorrow brings another full day of appointments, starting with another NeuroPsych evaluation. Also somewhere in there we have cardiology, orthopedics, and BMT clinic.

So far though, everyone seems to be happy with Gracie's progress- and aside from the PT issues, Gracie is looking great. :) We hope to continue to have great appointments and more good news to share.

I'm beat, I'll try to update more tomorrow. xoxo.

Waiting for our echo appointment...

So I thought I'd give another quick update. I ended my last post with our Monday schedule, but I didn't get to finish. So after BMT clinic and the awful blood draw, we visited our geneticist, Dr. Whitley, which was again a wonderful visit. We discussed some of Gracie's progress and he seemed very pleased with her so far. We also discussed the process of having more children and then lightly touched on the ongoing research for MPS. All in all, an informative appointment. :)
Whew! I'd forgotten how packed these check-up weeks are! The last few days have been a whirlwind, but I will try to sum them up the best I can for our loyal readers.
Monday started with an early appointment with Neuropsychology and Dr. Kendra Bjoraker who is one of the most wonderful women I have ever met. She is so kind and caring, and she has a real heart for these MPS kids she works with. The appointment went well, and they noted many of Gracie's obvious improvements. :) We go back to Neuropsych on Thursday for more testing and to hear the opinion on Gracie's progress so far.
Afterward, we visited the BMT clinic and had a nightmare of a blood draw fiasco, but despite it all, Gracie continued smiling and charming everyone we saw. And of course they all remembered our sweet girl. We will visit BMT again on Thursday for an appointment with our beloved Dr. Tolar and we can't wait to show off to him!

Monday, May 11, 2009

We're here!

Sorry I haven't posted sooner, but we're safe and sound in Minneapolis and having fun. We got to have a short but great visit with Uncle Mack and we met up with Rylie and Wyatt and their parents for dinner and a playdate yesterday evening. We'll try to post pictures soon.

More Later.


Friday, May 8, 2009

Day +365

One year ago today I got my baby back. Unbelievable.

Thank you, God.

Happy Life Day, beautiful baby.

Thursday, May 7, 2009

Our special friend Rylie...

... is celebrating her first Life Day today!!!! Hooray Rylie! We love you so much, special girl! Rylie's parents put together a beautiful slideshow of her journey on their blogspot. Go by and watch it and congratulate our transplant buddy on her 1 year milestone!!!

Sunday, May 3, 2009

Another reminder...

of how wonderfully blessed and lucky we are to still have our Gracie with us.

I learned today that another Hurler baby in Minnesota has lost his fight and gone home to God. Little LB passed away yesterday due to complications from transplant.

I am devastated and discouraged to know how many lives MPS is still claiming, despite having the best medical care available. Its totally unfair, and I wish there were more that could be done for these precious children.

Please pray for Brinley's parents, Mandy and Trampus, and also LB's parents, Michelle and Lou, as they try to rebuild their lives again without their precious sons. God bless them all.