Plan for Better Bones

Bertrand tearing into his Valentine's haul from school.

Bertrand had a fabulous physical therapy session at Shriners and afterward we had an appointment to discuss Bertrand's bone health with his pediatrician. Not only are broken bones painful for Bertrand, but they set him back developmentally--he has yet to recover fully from his broken leg in October. Bertrand broke both his humerus (upper arm) and his femur (upper leg) in 2010, so we want to plan to prevent additional breaks.

The discussion with his pediatrician went fantastically well. We covered topics including: water therapy, weight bearing, vibration therapy, vitamin D, calcium & phosphorous supplementation, bisphosphinate injections, medication interaction (prevacid, depakote), & more.

His pediatrician believes that Bertrand does have low bone density (just like any other child with a neurological disorder would have), so a dexascan wouldn't reveal anything new. However, his breaks have occurred in very typical locations for a child his age and his last bone break may have been due to a growth spurt. Therefore, she is not convinced that his bones are that bad.

Furthermore, Bertrand is still young, he is doing way better than expected (yay!) and there is a lot we can do to build his bones naturally--which would be less brittle than bone created through something like bisphosphinate injections.

Bertrand's Plan for Better Bones:

• Supplementation: We'll do a 3 day food diary to estimate his current calcium, vitamin d, and phosphorus intake. We don't want to overdo the calcium because Bertrand is prone to kidney stones, but we do want to optimize the calcium while bombing his system with vitamin D. We'll adjust his diet accordingly.
• Medication: Along with monitoring levels of vitamin D, calcium, etc., we'll also keep an eye on medication levels and limit those with negative interactions whenever possible. Bertrand will have a Ph test done during his EGD in early March to see if staying on prevacid is necessary now that he is older.
• Sunshine: While sunburns are a big no no, Bertrand will be encouraged to spend lots more time outside with minimal sunscreen to improve vitamin D absorption.
• Water Therapy: To encourage weight bearing with minimal resistance, Bertrand will begin water therapy. This task is being gratefully delegated to Bertrand's Nana, who is a swimmer & enjoys the water. (I detest pools, the beach, and even bathtubs.)
• Stander Time: Bertrand will have his stander re-adjusted at Shriners and we'll become religious about building up his tolerance back up to 2 hours in the stander daily.

PS - Bertrand's pediatrician will take Victoria (Bertrand's sister due in April) on as a new patient even though her office says that she is not taking any more! :) It is such a relief that any early warning signs will be caught!

PPS - Bertrand is back to having horrible drop seizures and myoclonus. We're hoping that he's either sick, or it's the increase in Lamictal, or the drop of the Zonegran, and not his pharmacoresistance rearing its ugly head again. He'll be seeing his neurologist tomorrow. We'll be talking depakote.

A Brief Update

• Bertrand's pediatrician believes that there is a significant chance that his arm fracture may not be a result of his condition--just a normal toddler break. As such, steroids can be left on the table as a possible epilepsy treatment.
• Bertrand's keto team is uncomfortable upping his ratio from 3.5:1 to 4:1 due to his recent lab results. Glucose in particular was a concern. B's neurologist will get back to us on how to proceed re: diet, EEG and steroids.
• Bertrand's medical team will be having a pow wow in the near future with a focus on improving his physical and cognitive development and what trade offs need to be made (bone v. liver v. brain etc.). This would include his keto team, neurologist, pediatrician, geneticist, hepatologist, epileptologist and orthopaedist.
• Bertrand is getting to be more like his mother every day. At physical therapy today it was discovered that he has her same limb length discrepancy (left leg is longer). His stander has been adjusted to compensate and in the future he will need a lift in his right shoe.

How did Bertrand break his arm?

We've been getting that question a lot.

I wish we had an answer. At the moment, all we have are hypotheses.

For starters, we don't even know for sure when the break happened. Our best guess is that it happened with the spill he took out of his stander on Saturday morning. But, that spill was nothing compared with the kinds of spills "normal" kids have all the time. He's certainly had a couple harder falls than that. Moreover, he fell straight back (not on his arm) and there were no bumps, bruises, swelling or even redness. Even now, there are no external signs of trauma or injury.

With Bertrand, the only way to tell that he's injured is that he's more upset than normal. He already hates having his arms touched, so it probably took us a while to realize something was wrong. We started to notice increased seizures and abnormal sensitivity to his right arm Sunday night. He normally doesn't cry while changing clothes, but Sunday night, he did. Before that, we can't recall any signs.

At the moment, a bone lesion or cyst is the best candidate to explain how the break happened. Both are common in rapidly growing children or young adults on the long bones of the arms and legs--the top of the humerus is perhaps the most common location. The ER doc explained that bone lesions weaken bone strength, and make fractures much easier. In the worst case, it is possible that Bertrand is developing bone lesions as a result of his condition. The ketogenic diet can also deplete calcium and vitamin D, which makes bones more brittle, however it does not cause bone lesions. So far, his labs show no problems with either calcium or vitamin D.

Bertrand has also had more tonic seizures than normal since last Thursday. It is conceivable that a particularly strong tonic seizure could break a bone weakened by a cyst or lesion.

The fracture also hit his growth plate, but not severely enough to affect growth, according to the docs.

It's been unnerving for us to think that we may have let poor little Bertrand suffer, and it's really disturbing that we don't know how this happened. We are worried that if was a combination of tonic seizures and bone lesions, this could be the first break of more to come.

In the mean time, Bertrand won't be doing any physical or occupational therapy for two weeks, since much of it now revolves around getting him to use his arms properly. We'll shift the focus to cognitive and speech tasks instead.

Tomorrow, he's seeing the bone lesion specialist to investigate the bone lesion/cyst problem more thoroughly, and we'll report back what we learn.

Thank you to everyone for your expressions of love and support!

A broken arm

Last night, Cristina and I noticed that Bertrand was unusually grouchy about changing clothes, and slightly grouchier over all. We thought it could be the recent changes with diet and medication. Similar grouchiness had followed prior changes in diet, so we assumed this was no different.

Changing him this morning, he seemed extra grouchy about having his right arm touched. At school, he refused to play with his favorite spinning toy. We both thought it was strange that he let his right arm sink into the bean bag, instead of pulling it into his chest like usual. But, he wasn't upset about it. In fact, he was flirting away with his teacher and enjoying his books.

When we picked him up, we again noticed (extra) sensitivity in his right arm. At home, we saw he wasn't moving his right arm at all. We sought expert medical opinions, tried a few things, observed him for about 10 minutes, and then made the decision to go to the ER. (Luckily, our good friend Jimi Malcolm was with us, and he consulted his dad, an orthopedic surgeon, for advice.) We feared a dislocated shoulder.

They x-rayed him in the ER, and to our shock, Bertrand had a break in his humerus at the shoulder. We're still not sure exactly how this happened. He took a spill when a snap broke loose on his stander on Saturday, but he didn't fall with enough force to cause such as injury.

The ER told us that Bertrand also appears to have a bone cyst at the site of the break. If true (and we'll confirm with the fracture clinic soon), then the cyst may have weakened the bone, so that it could break under "normal" behavior, or perhaps during an intense tonic seizure.

Whatever caused the break, Bertrand has been bandanged into a sling for the next four weeks. He seems to be in less pain already, though he doesn't seem thrilled about having his movement constricted.

Bone problems come with some metabolic disorders, so we're going to pursue the bone cyst issue vigorously, in the hope that we can prevent future breaks. We have complete skeletal surveys of Bertrand, and we'll be scrutinizing those for early signs of bone cysts. This might be the clue that cracks Bertrand's case.

In the mean time, you'll see Bertrand bandaged up for at least the next four weeks, and his already paranoid parents just got a notch more frantic.