It's a marathon, not a sprint

I love to watch the Olympics, even though I am one of the most un-athletic people around. I admire the dedication and strength that the Olympians have and thinking about this journey that we are on now makes me realize that we are running in a marathon of a lifetime. Not just ours, but one for Scott as well.

One of the things that I have been thinking about is how do you balance having a “special needs” child with everyday life. We have had so many doctors appointment and lab test, etc… it has been all consuming. I am behind on laundry, grocery shopping, house keeping, you name it… I suppose that when we get past the initial appointments and such things will settle down some. Maybe?

But, I have been inspired by the people who have been so supportive and the prayers that are offered up for us. It is amazing!

Here is a copy of Chuck’s latest email which includes details from the last week. It is lengthy and feel free to skip down to the Praises & Prayer requests if you don’t want the details.


Hi Everyone,

A week has passed since my last email, and although Dian is keeping her blog updated, I thought I’d send out an email with updates since my last email on 8/15.

First off, thank you for your continuing prayers on Scott’s and our family’s behalf. We definitely need them and feel them. Please keep praying for us.

This next section is long. It explains what we did and what we learned this week. If you want to skip it and go down to the praises and prayer requests at the end, please feel free to.

Since last Friday, we have:
· Had a Thyroid Uptake Test done on Tue and Wed (Scott had to take a “nuclear” pill and then they took pictures of his thyroid later that day and the next day).
· The results showed that his Thyroid is enlarged, which our endocrinologist had already determined. Nodules are present (which are apparently what is making the Thyroid larger than normal), but the functioning of the Thyroid is normal. The endocrinologist didn’t seem concerned about the nodules, so we didn’t pursue that at this time (there’s only so much we can absorb at one time).
· Met with a Geneticist on Wed.
· She explained that the cause of McCune-Albright Syndrome (MAS) is a genetic defect, but it is not inherited from the parent(s) nor is it passed on to children by someone who has MAS (we had already read this via info on the Internet, but it was a nice confirmation).
· Something happens early in the development of the embryo with some of the cells. As the cells replicate themselves in preparation for division as the embryo develops, sometimes a mutation occurs and the new cell doesn’t get all of the info from the cell it divided from. Thus, it doesn’t work quite right. This can happen with many cells. Please forgive my 1st grade explanation of this, it’s the best I can do. Depending on how early in the embryo’s development this happens, just a few cells may be affected, or many cells can be affected. This apparently has an impact on how severe or extensive the symptoms are. Ok, that’s the end of the science lesson. Hope it made sense.
· There is currently no way to cure this condition. Some (maybe all) of the symptoms may be able to be treated, but it will not change the root condition.
· Had a Bone Scan done on Wed.
· This was probably the most discouraging point in our week. This scan “looked” for evidence of bone lesions throughout his body. We already know Scott has these in his skull. We were hoping they would be limited to just this area of his body. Unfortunately, he also has them in his femur (upper leg) and tibia (lower leg) bones, plus 3 lumbar vertebrae. None of them are as severe as the ones in his skull. The ones in his femur and tibia are moderate, the ones in his vertebrae are minor.
· Bone Lesions (the Orthopedist today called them fibrous dysplasia, in case that means anything to any of you) cause the bone to be less dense inside (like a hole inside the bone) and cause them to be too thin in places, making them weak and subject to easy fracture. Micro fractures can occur in these cases, which are very painful. Deformation of the bone is also common (they can bulge out, as in the case of Scott’s skull, or they can become longer than they should, as in the case of leg or arm bones). I’m sure there’s a lot more to it than this, but this is the extent of my understanding at this time.
· Met with our Endocrinologist on Thur.
· The results of the lab tests are somewhat inconclusive. There is clearly a lot of growth hormone in his system, probably from the tumor near his pituitary gland. We don’t know yet if the tumor is creating the growth hormone or only stimulating the pituitary to produce too much of it. His sex hormones are low, indicating he is not in early puberty. However, he is exhibiting some external evidence that he is in early puberty. The endocrinologist is ordering more tests to be able to (hopefully) definitively determine if he is indeed in early puberty.
· She (our endocrinologist) suggested that he may just have a so much growth hormone in his body that everything is growing big (like his Thyroid), but is not actually putting him into early puberty. We learned that the body’s glands work together, or are interrelated in that when one gland produces certain hormones, it causes other glands to produce other hormones, which causes other glands to produce hormones, etc. This is apparently how it works during puberty. One triggers part of the process, which triggers another part, etc. How do you like my technical explanation of this? Hope this is making sense. I’m no doctor, that’s for sure.
· She was surprised that the neurosurgeon is so “unconcerned” about his tumor. She thinks it is more urgent than he does. He is currently out of the country, so she will talk to him when he returns.
· Met with an Orthopedic specialist today.
· The purpose of this appointment was to get the doctor’s opinion on Scott’s bone lesions and where to go from here.
· The good news with this doctor is that he has had MAS patients before, so he is very familiar with this. The bad news is that he seemed kind of ho-hum about Scott’s condition, as if it was no big deal. Perhaps, in his experience, this is appropriate, but as his parents, Scott’s condition is a very big deal to us.
· There is no miracle cure here. One treatment that the geneticist had suggested, and our endocrinologist had agreed would be worth looking into, which has been shown to help with the weakening of the bones, is now being found to have only a short term benefit of a few years, then the condition of the bones actually gets worse than without the treatment. The Orthopedist told us this, so his experience will obviously be a plus for us. He simply suggested calcium and vitamin D supplements (the vitamin D helps the body absorb the calcium. Did you know that the fat in milk and milk products actually absorbs the calcium, so it doesn’t get into the body? We didn’t, but we do now).
· The orthopedist took xrays of Scott’s lower torso to get a better idea of how the bone lesions are affecting Scott’s legs. One leg is just over a centimeter longer than the other. A centimeter or less is considered normal, so the orthopedist isn’t too concerned about his now. The xrays showed that the bones are not currently experiencing any deformation, so that’s a good thing. Since Scott is not currently experiencing any pain, the doctor said there is no reason to limit his activities at this time.
· One of the tests we had done earlier was a bone age xray (they take an xray of the hand and somehow can determine how old the bones are from that). That test determined that Scott’s bone age is 8 (he just turned 7 the end of June). Since his body size is that of a 12 year old, that’s actually a good thing. It is one more piece of evidence that he may not be in early puberty. This would be good because children grow approximately a couple of inches or so a year until puberty, then have a big growth spurt, and then stop growing after that. If puberty happens too early, all those years of growth are lost, making the child shorter than he or she would have been if they had started puberty at the right time. The orthopedist did a bone age xray also, and he said Scott’s bone age looks to him as 7 years, which is even better news.
· The orthopedist wants to see Scott again in 6 months, unless we begin having problems.

What’s Coming Up:

· An appointment with an Oncologist on Wed 8/27 (to see if they have any new treatments that would prove effective in shrinking and/or eliminating the tumor in Scott’s brain).
· More lab tests to get a better idea on Scott’s puberty situation.
· A hearing test, to see if his hearing is being impaired at all.
· An appointment with a Neuro Ophthalmologist (due to the tumor being against his optic nerve).

Praises:

· Your prayers. We are doing much better emotionally and relationally with each other than we would be without them.
· Scott still doesn’t exhibit any difficulties. He has no pain, and he appears to still be seeing and hearing fine.
· Dian. She has been a rock. She is being a great advocate for Scott, and is keeping records of all our appointments and what we’re finding out and what we have to do. She’s also looking on the Internet for any info/help she can find.
· You all. One of our cousins forwarded us some info regarding a doctor back east who is supposedly an expert in MAS. Dian copied the article and gave it to our endocrinologist. She had not come across this info before and was very happy to get it. She will contact this doctor (she suggested we might need to go back east for treatment, if that is where the best treatment is available). One of our very dear friends loaned us a scripture verse framed in a nice frame, so we can see it regularly every day. It is Deu. 32.4: “He is the Rock, his works are perfect, and all his ways are just. A faithful God who does no wrong. Upright and just is He.” Reading this really helps me keep things in perspective. If God is in control, which is He is, and if He knew about this all along and determined when we would find out about this condition, which He did, and if He truly does no wrong, which He does not, then I am compelled to completely trust Him even though this situation makes little sense to me. It’s definitely not often easy to do, but it does help.
· Our endocrinologist is obviously very interested in providing Scott with the best care possible. She is leaving no stone unturned and we are glad to have her as our doctor.

Prayer Requests:

· Please continue to pray for us, especially for Dian. She is a rock, but she is under a lot of stress (obviously). Please pray that she will be encouraged, will not be discouraged, will get enough sleep.
· Please pray that we will both have patience with our children. Ashlyn is acting out a little, probably because she senses the extra attention we’re giving Scott right now.
· Please pray that Scott will continue to suffer no symptoms.
· Please pray that the doctors will personally care about Scott and be extra motivated to help him. Please pray that they will coordinate with each other effectively in determining a course of action for Scott’s treatment.

Again, thanks so much for your prayers. Please don’t stop.