Day -8 in the books – was pretty much exactly like day -9. So instead of hospital updates, I’ll update you on the fact that NC recently passed a new legislative budget that includes funding for the addition of several more federally-recommended newborn screening tests on the current panel, one of which is MPS-1.

There was a pilot study to support this effort that ended March 7, 2017. Maggie was born March 9 – so had she been born 2 days earlier, we would have known her diagnosis at birth and she would have been transplanted much sooner and babies that get transplanted sooner do better (she is still young though and diagnosed at favorable age, so I think she’s going to do great). But this disease is ideal to be included on the newborn screen, since it is asymptomatic at birth and there are known disease-modifying interventions. So I’m glad to see NC is at least somewhat catching up with federal recommendations on newborn screening.

And here’s your Maggie pic of the day:

Day -9 is pretty much under our belts – Maggie seemed to feel great and played ALL day today, after we got through the every-30-minute chemo drug levels overnight. It is hard to be away from my “home” hospital, if you will, but have quickly figured out that my world is only as big as the transplant floor so it doesn’t really matter. Today I spent a lot of time comparing Duke hospital and UNC hospital, from a “resident caregiver” perspective. Here’s the scorecard:

Size/quality of hospital rooms: UNC>Duke
IV beeping tone/loudness (or lack thereof) Duke>UNC
All things food service UNC>Duke
Free monuts Duke>UNC
Lack of overhead code calls Duke>UNC
Wifi guest access UNC>Duke, but barely
Ability to control the temperature in your hospital room UNC>Duke
Recliners in the room that actually move where you want them to move Duke>UNC
A draw perhaps?

I’m going to have to figure out more interesting pictures than just Maggie with an NG tube but that’s pretty much my whole life at the moment!

A successful day one! Or minus 10, depending how you count. Maggie had a Hickman placed, an NG tube placed, and a skin biopsy (still don’t fully understand the rationale for the skin biopsy – something about fibroblast culture to inform chimerism studies in the future, as it seems that skin fibroblasts are derived from blood cells). I’ve decided it’s pretty near impossible to keep an NG tube in a 15 month old for two + months, but we’re going to try. We’ve already played with all the toys I brought 3 times. And continuous pulse ox is my nemesis. Tonight she starts her chemo with busulfan every 6 hours. We were up at 4am today for a 6am time of arrival, so I’m going to attempt a bit of sleep before the fun hits. Welcome to all the new readers – based on blog stats, you are plentiful.

Many many thanks to the fabulous Danell Beede for joining us at Monuts and Duke Gardens to take a few shots of the family before we get separated for a few months (and before Maggie loses all her hair!). She took a gazillion fabulous photos – here are a couple of my favorites:

My first baby finishes kindergarten today. She is pretty much ready to take on the world, I think. She is a champion reader and now manages the family calendar. Congratulations Kaya! On to first grade…

Little chicken is almost done her pre-transplant evaluation – now she just has to stay healthy until Monday to get admitted (I give it 50/50 based on the typical frequency of colds and illness running through our house). We also got to meet her hearing teacher this morning – all words henceforth pronounced in the Rose house will acoustically highlight certain sounds like “hhhhh-i” and “dogssssssss” to help Maggie pick up the more subtle sounds. Also, baby talk encouraged.

Can you build a tower taller than yourself? Cause Laney can. Business as usual this week at the Rose house, with the exception of Gammy visiting as an extra house guest for a while. Next lesson after tower building? How to pick clothes so the colors match!

This is how I feel most mornings too.

Maggie is finally old enough that she plays and interacts with her sisters, can imitate them, and always wants to do what they are doing. She is now robust enough that she can handle when they “help” her get dressed or stand up. Basically, she is at ideal baby doll age. Unfortunately for me, that means that I get the title of “grandma” during their games. But my grandbaby is cute, at least!

Many updates to share today – 3 weeks ago, Maggie got diagnosed with a very rare genetic condition called MPS-1 (mucopolysaccharidoses type 1). It’s also known as Hurler syndrome, and thankfully does not actually make children hurl. But it does cause a long list of other horrible symptoms and without treatment it’s fatal by age 10. It’s caused by a mutation (actually 2 mutations, since autosomal recessive) in a gene that codes for a certain enzyme that breaks down a large sugar/protein substance (glycosaminoglycans or “GAGs”, for you medical folk), which can accumulate and cause lots of problems if not broken down. I will spare you the details – the wikipedia article is not for the faint of heart.

There are a few treatments – most intuitively is IV enzyme replacement treatment, but that doesn’t get into the brain, so the babies with the severe form like Maggie still have progressive cognitive dysfunction. So, to prevent this, treatment takes a rather inelegant approach of wiping out her own stem cells and replacing them with stem cells that make the enzyme in need, which then travel to the brain and break down the “GAGs” and prevent the cognitive loss – this is otherwise known as a stem cell transplant. It is a terrible and risky procedure requiring 2 months in the hospital and many more months of isolation and precautions. It involves chemotherapy, lots of immunosupression, and then a usually anti-climatic infusion of new stem cells (from umbilical cord blood from an unrelated donor, in her case). It will be a hard year, and after that she will continue to have challenges of being post-transplant, plus the MPS complications of orthopedic issues are not adequated fixed with transplant. A long road, to say the least. But she remains cognitively intact currently and we are planning to keep her that way.

So she is getting admitted to Duke for a transplant in the next couple of weeks – date still TBD. In the meantime, we are enjoying our normal lives for a little while longer and looking forward to celebrating Maggie, our MPS warrior, on the other side of transplant. I promise to update the blog frequently to keep everyone updated – we are very fortunate to have so much support in all aspects of our lives and already are so thankful for all the help.