Living with Cystinosis

[DR LIEBERMAN] I find it very helpful that I have my patients go and do their periodic blood testing a week before their next visit with me, and I then have the results sitting in front of me. So, when they come in, I don't have to say, like, now go do your blood testing, but I have the results. And we can have a very worthwhile meeting, reviewing where we've been and what we have to do for the future. 

[DR LIEBERMAN] Engage your child in making decisions about his or her health care day-to-day aspects as early as you can. The child may express that they want to take the meds an hour earlier or at this time as opposed to that time because their favorite TV show is on or something like that. Be flexible with them even relatively early on and let them have some control over their day-to-day care. Explain in an age-appropriate way that they are going to, that they are different in the sense that they are going to need to take responsibility for their health care that other children may not have to deal with.

[DR LIEBERMAN] It's easy to be overwhelmed by the enormity of this diagnosis and the implications for the future. And sometimes being overwhelmed by the big picture can lead to paralysis and make it difficult for you to address the everyday problems, not only of your child with cystinosis, but other problems within your family. The antidote to such a paralysis is focusing on the day-to-day. If you can do that, if you can focus on the day-to-day and carry forth with the things that you have to do, you will find the overwhelming thoughts that creep up to recede further and further into the background.

[DR. LIEBERMAN] Consistency in the taking of the medication, which is so important in the treatment of this disease, is a major problem for families. The children go through phases of being perhaps more obstinate, and trying to break with a schedule that perhaps you had established for many years. Try to take into account the child's schedule. Ask him or her, what are the barriers? Why is medication-taking becoming a problem now? And encourage them to tell you what they see as the issues.

It may be something as simple as the timing of the administration of the medication, but try to see it from their angle and see if what they want can be addressed and validated. However, if you see the problem with medication-taking as escalating, bring it to the attention of your healthcare provider sooner rather than later so that you can have their assistance in trying to get things back on track.

[DR LIEBERMAN] For many of the families that I have been involved with, daily feeding is the biggest ongoing challenge for their young children. Feeding is very emotionally fraught. It cuts right to the center of what it means to be a nurturing parent, to be able to give your child good nutrition. And often these kids with cystinosis are not good eaters. And so, getting adequate nutrition into the patient is sometimes difficult. You need to overcome the sense that this is your failure. It is not; this is a problem of this disease. It needs to be seen in that light and it needs to be overcome. Your physician will be able to give you lots of tips and tricks about how to deal with giving adequate nutrition to these young children with cystinosis.

I have found, and many other experts in the field have found, that utilizing some form of direct stomach feeding NG tubes, gastric tubes, can be extremely helpful, almost liberating for the family. Again, it's seen as a surgical procedure or a medical procedure where a tube needs to be inserted to facilitate feeding. But then once that's done, you don't have this enormous day-to-day burden of sitting there with the spoon or the bottle and trying to coax your child into taking every spoonful. But you have a ready mechanism to ensure that your child is receiving nutrition that's adequate for their need. And this is definitely something that you would bring up with your physician to see if this might be appropriate for you.

[DR LIEBERMAN] Just like parents need to struggle with their children eventually leaving the nest and going out on their own, we pediatricians all have to struggle with the time when our children, our patients, your children are graduating from us and are making that transition from pediatric style medical care to adult style medical care. This is a discussion that you definitely have to have with your pediatrician. They might have very clear thoughts of their own about how to manage this and when to do various steps. College, which so many of our patients will be experiencing, forms a natural timeframe for some of these transition points. They transition to college, which if the college is not in the hometown, they're not living at home, forms a little bit of the transition and the college health facilities, the infirmaries, are often very helpful in doing that. But I think for most pediatricians, there's a relatively hard and fast transition point around the age of 22, when the children are graduating college. And we can help you find adult care for your child and help you with the steps of that transition.

[DR LIEBERMAN] There comes a time when your child, who perhaps is no longer such a little child, wants to know about the impact of cystinosis on their own life. Certainly, answer to the best of your ability any questions your child may come up with. But this is definitely a space where your health care provider could be of great assistance. The child should feel that he or she has a direct relationship with their doctor, not just through the parents. And the doctors will, in an age-appropriate way, answer questions about how this disease will affect the children as they get older. This requires some sensitivity to stage of development the way one would deal with this question, namely, the impact of the disease on my life, would be different with a 12-year-old versus an 18-year-old. But it's a discussion that needs to take place.