Yesterday we had a meeting with Anabelle's new rheumatologist to review the findings of her CAT scan, MRI and blood tests regarding the calcifications in her limbs. It was disheartening, to say the least. The condition has been officially defined as "Calcinosis cutis", but that only tells us what it IS, not what is causing it. All testing has come back negative for any autoimmune disorder that would cause it. Dr. Dobyns, the leading expert in lissencephaly, was contacted, and he says he has NEVER seen this in another liss kid. The doctors are totally stumped. The only thing they can suggest is to treat it like similar disorders, all of which we know it is not, and all the treatments are risky.
The first option, which would hopefully help finally diagnose what is going on, would be a biopsy of the muscles. It would have to be a large and deep section taken from muscles that appear inflamed, which is what you would find as a result of several possible candidates for disorders. The problem is, the MRI showed that the only area that might POSSIBLY be inflamed was the upper buttock. The rest of her legs are so atrophied from disuse. So are they actually inflamed? Or are they just the only muscles with any tone whatsoever, because we lift her legs up and down all day long changing her diaper and dressing her, etc. Anabelle spends 99% of her life on her back. She cannot tolerate being laid on her stomach. So we would have to take a large section of her tush, then have her sit on it. This makes infection an almost certainty. And even if we take the biopsy, there is no guarantee that there would be anything to find. The doctor did not recommend this course of action
The second option is to hit it with a high level of steroids. 8 weeks of them, in fact. This would suppress the immune system and hopefully the body would stop thinking there was trauma that had to be covered with the calcifications. As any of you familiar with lissencephaly know, Anabelle's immune system is ALREADY weak. The steroids would also weaken her bones permanently. As those of you familiar with quadripalegics know, Anabelle's bones are ALREADY weak.
A third option is a biphosphate infusion. This is something that is used in osteoperosis treatment, and the chemical helps return calcium to the bones. It has been successful in a case study of calcinosis cutis. One study. Oh, and it ran for 5 years before seeing benefits. Oh, and you need to do the infusion once a month. Oh, and it needs to be inpatient.
There are also a few other options of a number of drugs that have shown SOME benefit in SOME case studies. Nothing definitive.
Final option is to do nothing. As of right now, they do not appear to be bothering her. However here are possibilities for what COULD happen:
- They could continue to pile on her limbs, eventually squeezing on the veins and restricting blood flow. It has already been noted that they are progressing at a rapid rate and the skin has started to adhere itself to them
- If they start growing in her torso, they could strangle her lungs and other organs
- If the calcifications start breaking down, they will form ulcers on her skin that will break into large, gaping wounds
The doctor presented all of these options to us, then kind of looked at us and goes, "I have no recommendation for your daughter. We'll do whatever YOU want to do." Palliative care was suggested.
After polishing our medical degrees, Brian and I decided the first step is for a second opinion. The doctors at Dupont were openly telling us that they were stumped. The least we can do is try to find someone with a little more confidence in suggesting a path for moving forward. Anabelle's quality of life has not decreased in the slightest. Until we see any evidence of suffering, we are not satisfied with "There's nothing we can do." The journey continues...