Friday, September 17, 2010


It’s been over a month and a half since we last updated Ethan’s journal. That’s probably the longest we’ve gone between updates. That certainly comes primarily from the fact that Ethan’s condition has been stable, but perhaps equally from the fact that we’re all settling into a routine and learning how to live with MPS.

Ethan
Day to day, Ethan’s doing good. He’s strong and he’s happy and brings joy to our lives.

Ear Infection
Just yesterday afternoon, Ethan was diagnosed with severe ear infections in both ears and has been prescribed a course of antibiotics. 

Ethan does have ear tubes and it looks like they are working properly. We think that Ethan’s new hearing aids caused a build up of wax in his ear canals and kept the fluid from draining. 

Ethan hadn’t spiked a fever and he didn’t seem to be in pain, it was really just luck that we caught it. Yesterday morning, Sarah’s parents took Ethan in to get new ear molds fitted for his hearing aids since he appeared to be outgrowing the old ones. During that process, they did a pressure check on his ears and the results of that seemed off, so we took him into to his pediatrician for a check.

Speech
Ethan’s been going to speech therapy once or twice a week since mid-August. (Thanks very much to those who have helped and offered to help with picking up and dropping off Ethan for appointments.) 

The speech therapy sessions help some, but--with due respect to the speech pathologists we work with--I think the speech training is rather like obedience school for one’s dog. If you’ve ever taken your dog to obedience school, then you know that the school trains your dog a little bit, but mostly trains you how to train your dog. That’s pretty much speech therapy. It’s about 1/3 about working through words and sounds with Ethan while we’re playing with him and about 2/3 about teaching Sarah and I how to teach him. We are seeing measured progress though. Ethan’s picking up a few more words and sounds over time. He’s got “Me” down pretty well (as in “give it to me!” and “me do!”, and he’s working on “mine” (which is a complete sentence on it’s own, isn’t it?). He’s working on a number of other word approximations and his pronunciation is getting clearer day by day. 

Orthopedics
We’ve been working through a question about soft-orthotics. Ethan’s early intervention physical therapist recommended them, but his orthopedic doctor had never even mentioned them, and when asked said they didn’t think they would help much. That sent me off on a search to see if there were any orthopedic recommendations for Hurler’s and whether or not they would be worthwhile. The doctors seem skeptical and the physical therapist is strongly supportive. We were able to get a prescription for them, so I think we’ll give them a shot under the “what the hell, couldn’t hurt” medical philosophy.

Transplant
Ethan’s transplant chimerisms continue their slow and steady decline. In July, he looked to be about 25% engrafted. The August test showed that he was about 20% engrafted. If his engraftment drops to 10% then we’ll do a second transplant. 

We have finally started tapering Ethan’s immunosuppresent drugs. The immunosuppresents help keep his body from rejecting the donor cells so that the donor cells can engraft. As he goes off of the immunosuppresents, there are three possible outcomes: 1) the chimerisms and the engraftment can crash entirely, 2) we’ll continue to see the same steady decline or 3) things might stabilize. He’s come off of the CellCept, and he’s on a long taper of tacrolimus that will continue into November. 

I think we all expect that Ethan’s chimerisms will decline pretty quickly once the immunosuppresants are removed. In that case, we’ll move to a second transplant within the next few months. But the risks associated with transplant are still huge, so no one’s going to rush into that if we don’t have to.

Living with Hurler’s
We’re now a couple of months past the first anniversary of Ethan’s diagnosis, and we’re approaching the first anniversary of his transplant. The last year has been incredibly difficult on all levels. On the transplant side Sarah and I and Ethan’s grandparents have been supporting and providing Ethan’s medical care, both at home and through multiple hospital stays. On the Hurler’s side we’ve had numerous medical assessments and tests on essentially every part and system of his body trying to determine the damage to his body and mind from this terrible disease. And personally, Sarah and I have been in a year long sprint to learn as much as we can about the care, treatment and long-term issues and prognosis for Hurler’s kids. 

Clearly, the transplant issues and concerns and time commitments will be with us for some time to come. However, some of the other pieces are becoming less frenetic and time consuming, at least for the time being. 

After a lot of reading of reference articles, medical papers, traveling to the MPS center at UMinn and the reading stories of countless other Hurler’s kids, I think Sarah and I are now reasonably comfortable with our knowledge of Hurler’s: how it has and will continue to impact Ethan’s life and the processes and standards of care that we and his doctors can provide. Hurler’s is such a rare and complex disease that we know that we will always have to be Ethan’s strongest advocate. We know that together with his primary care physician, part of our job will be to set an expectation of strong and aggressive treatment and to help put all of the pieces of Ethan’s health care puzzle together so that each of the various specialists can see beyond his individual conditions to consider and treat him holistically. 

We understand that we don’t have all of the answers and that that there will be a lot of maddening complications, vagaries and difficulties along the way; but, it doesn’t feel like we’re stumbling blindly along in the dark anymore. I wonder if we’ve now reach a predictable plateau, much like one of the “stages of grief”, that all families come to eventually. If stages of response to this kind of thing can be mapped, I sometimes wonder what lies ahead, but then again I’m not sure that I want to know.

Ethan’s Long-Term Prognosis
I’ll leave aside, here, any discussion of Ethan’s prognosis should he need to go through a second transplant. If and when we come to that, there willl be time to discuss it. Now that we’re through this first year of learning about the disease and Ethan’s current state of health, where are we? Assuming that Ethan’s current transplant holds or that a second transplant is successful, here’s what we think we know.

Life expectancy. The oldest Hurler’s patient that I know of just became a senior in high school. He received his transplant when he was 3, so that would have been about 1996. Though research leads me to believe that there are some Hurler’s kids who have lived into their 20s. There have been a number of advances in Hurler’s treatment since then and hopefully there will continue to be more. It is entirely possible that with advances in medical technology that Ethan might live into his 30s or 40s or even beyond. But the current harsh reality is that many Hurler’s kids who survive transplant die before age 20 often from a combination of damage to internal organs that Hurler’s does both before and after transplant.

Orthopedic Issues. After a successful transplant, orthopedic issues will be the single largest area of concern and medical interventions over the course of Ethan’s life. He currently has spinal kyphosis on his back, pectus excavatum on his front, joint extension issues in his elbows, knees and angles, and hip issues. It’s also likely that he’ll develop carpel tunnel syndrome sooner or later. He is likely to go through orthotics, braces, and multiple surgeries his wrists, hips and spine. 

Neurological Issues. Assuming a successful transplant outcome, Ethan should do okay neurologically. Without a successful transplant, the GAG waste products will build up in his brain and Ethan will regress, forgetting skills that he already knows, until he is in a vegetative state. 

Cardiac Issues. Cardiac issues centered around the heart valves are a primary systemic issue with Hurler’s disease. Ethan had an echocardiogram last year and a follow up last month and both showed he has normal heart function. However, Ethan will always be at risk for developing potentially fatal heart irregularities and will need to monitored at least yearly. 

Vision Issues. At this point, Ethan suffers from mild corneal clouding. That may worsen over time, in which case he’ll need a cornea transplant in one or both eyes. 

Hearing Issues. Ethan current suffers from mild to moderate hearing loss in the mid to upper ranges, respectively. His hearing will not improve over time and I expect it will get at least slightly worse as he gets older.

None of the above is offered in order to solicit pity either for Ethan or for us. We know there are so many families fighting other types of MPS/ML, and other lysosomal metabolic disorders like MPS, for which no treatments currently exist. Those families walk an extremely difficult path and our unwavering love and support goes out to them. 

They say that a receiving an MPS diagnosis is a life changing experience. That has certainly been true for us. Fighting this disease will continue to be a significant part of our lives for--hopefully--decades to come. I included this summary because I wanted to give you an update on the results of all of the assessments that Ethan has been through, and because I wanted to help our friends and family understand the fight that we’re engaged that has become a such significant part of our lives.

Thanks for your love and support over the last year. It does make a difference.

Peace,
Todd, Sarah, Caleb and Ethan 

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