When I went into this pregnancy, I thought perhaps the only factor making it high-risk would be cystinosis and associated conditions, like kidney transplant. I had a vague notion that practitioners would treat my age as a risk factor for certain conditions (like preeclampsia and gestational diabetes) as well.
As it turns out, I have many risks and it seems like the list continues to grow. Here’s the total right now:
advanced maternal age (37)
medications (particularly tacrolimus for kidney transplant and labetalol for blood pressure, both category C by the FDA’s former classification system; they’re both associated with low birth weight in studies, but remember that correlation and causation aren’t the same - whether low birth rate is caused by the drugs or the underlying condition necessitating the drugs in the first place is hard to tell sometimes)
hypothyroidism with thyroid hormone resistance
single umbilical artery (SUA)
abnormal placement of umbilical cord
history of problematic fluid regulation
reproductive technology (raises risk of some conditions)
stented superior vena cava
abnormal pulmonary function
But in this post I want to talk specifically about cystinosis and my personal thoughts, both related and unrelated to any risk with the pregnancy itself.
Oral cysteamine and pregnancy don’t mix, as far as we know
The main issue in a cystinosis pregnancy is that oral cysteamine seems to be incompatible with normal fetal growth. Pregnant mice given cysteamine were observed to have babies with birth defects that were teratogenic (developmental) in nature. For this reason, oral cysteamine (Cystagon, Procysbi) should be discontinued in pregnancy, according to many researchers.
There’s some debate whether it’s safe to restart oral cysteamine during the second trimester, when the fetus is done developing and just needs to grow. To use an example, mice on oral cysteamine were shown to give birth to babies who were missing limbs. Obviously, by the second trimester in a human pregnancy, all the limbs are present.
Still, though, I’m not going to be a guinea pig for the theory that oral cysteamine is safe after the first trimester, so I remain off of it.
Is this problematic? All I can do is relate what I know and my personal experience.
The importance of consistent treatment
Any time someone with a classic case of cystinosis is off oral cysteamine, cystine is allowed to build up. According to researchers, cystine accumulation does damage which is, in many cases, irreversible.
But I truly believe that if you are relatively young (20s or early 30s) and have adhered to a recommended/prescribed cysteamine treatment schedule without long treatment gaps for the vast majority of your life, your body can handle the lapse during pregnancy.
You have to do a risk assessment and remember that there are other ways to have children: surrogacy and adoption come to mind. But if you want to carry a child and have done well on oral cysteamine (and in my opinion, are also post-transplant since going off cysteamine can accelerate renal failure in your native kidneys), I think it’s worth it and you’ll be fine going off the medicine for 40 weeks.
Now, for my own experience
I do not fit my own recommendations. I was largely noncompliant (a word I don’t have a problem using for myself) with cysteamine for much of the first half of my 20s. I went for years without this treatment, blissfully ignoring (but not ignorant of) the warnings of long-term effects I had been told.
In the short term, I felt no effects of cystinosis and in fact felt in the best health of my life. (I sometimes feel like you’re an adult in your 20s only by legal standards; in so many ways, you still have so much growing up to do.)
So I accumulated a lot of damage that became most noticeable in my early 30s. Without going into specifics, I will say that I’ve wondered often during this pregnancy how much different things would be if I had gone into it without so much cell damage. I really shot myself in the foot, and I can’t go back - so regrets serve no purpose. But I can spread this message in hopes of helping others avoid the same mistake.
In some ways, it’s delightful (yes, that’s the word that sprang to mind) to be off cysteamine again. But I know - despite the judgement of some that my baby needs me to breastfeed - that I will go back on it as soon as I can after delivery.
My baby needs ME to be there in 10 years more than she needs to breastfeed for a couple.
Further, I know I will do everything in my power to never miss a single dose of cysteamine once I go back on it. I’m excited to be - but also dreading the side effects of - making this empowering decision day after day, until there is a cure or life runs out.
Some of the risk factors I listed above obviously stem from cystinosis or kidney transplant and are unavoidable, but some could have been largely prevented or at least mitigated with good medication adherence in my 20s. If you find yourself in a similar position where you are prioritizing feeling good now over running a slow and steady race of better overall health, please don’t hesitate to reach out. I’d love to listen, and if you’re interested, share more details of my story.
A note about cystinosis and male fertility
It’s long been noted that women with cystinosis can get pregnant whereas men with the condition are sterile. However, change is on the horizon.
At least one man with cystinosis has biologically fathered children, and there’s currently a European study looking into male fertility and cystinosis that seeks volunteers. Remember, “status quo” is so often a negative phrase for a reason. There’s always reason for hope in our little world of faithful, committed volunteers and dedicated researchers.