Awareness for ALSG

Aplasia of the lacrimal and salivary glands (ALSG) isĀ a rare genetic disorder characterized by absence (aplasia) or underdevelopment (hypoplasia) of the glands that secrete tears (lacrimal glands) and secrete saliva (salivary glands). Affected individuals may develop dry eyes (xerophthalmia) or dry mouth (xerostomia)(Reference).

It has been almost 2 years since my daughter was first officially diagnosed with ALSG. Look back at my post from July 2020 “Advocate. Advocate. Advocate.” In her diagnosis they tested both mother and father to see who it came from, it came from mom.. me. Nothing more deflating than realizing you gave your daughter a rare genetic disorder that has no treatment, but to also realize that this diagnosis for yourself explains so many problems that doctors have written off over the years.

Because ALSG impacts salivary and lacrimal glands, the doctors that handle your teeth and your eyes are different than your primary care doctor. I truly believe this genetic disorder goes undiagnosed due to the lack of comprehensive medical care. You go to a dentist for your teeth, you go to an optometrist and ophthalologist for your eyes and you see a primary care doctor for all other needs. It is rare that your doctor asks about dry mouth or dry eyes. It is rare that your dentist asks if you have dry eyes too. Not to mention, if someone (you) puts the pieces together, the referral process to actually get answers is LENGTHY. It took us 2 years and 3 months to get a firm genetic diagnosis. Not everyone has the time or patience to go to doctor after doctor to rule things out.

Here is our journey: We saw our primary care doctor which took 9 months to convince something was going on and got a referral. We got referred to ENT who got us in within 2 weeks and after the first visit, ordered our first ultrasound. After those results, we had to have an MRI because they thought she just didn’t sit still for the ultrasound tech to get good enough images. It took 4 months to get in for an MRI because she was so young. MRI results > no salivary glands. We got referred from ENT to Rheumatology. Rheumatology was a 4 month wait. They ruled out any inherited disorders based on lab work. We went back to ENT who then referred us to Genetics. Genetics was a 9 month wait. Once we got in, we had to have insurance approval to run the genetic panel and they wouldn’t run it without insurance approval because the testing is so expensive. 3 months later, insurance approved. We sent off our samples and had our results within the month. Jordyn was 2 years 3 months when we finally got our diagnosis. I started this process the week after she was born. Imagine piecing these symptoms together any older. They blame medications you took 10 years ago, allergies, age.

I have been seeing eye doctors since I was 2. I’ve had glasses since I was 2. I’ve had hundreds (it feels like) of fillings since I’ve had teeth. I have always been told “you have bad eyes,” “your eyes get drier with age,” “You need to brush your teeth,” “are you sure you’re brushing your teeth? this is a lot of cavaties for someone your age.” Not ONCE did anyone put these 2 things together to say “This may be something bigger.” This is why I am convinced that this disorder is far more common than it is actually diagnosed. In my family alone, I can name 9 people who suffer from the same symptoms. My dad, my sister, my nephew, my aunt, my cousin, my cousin’s daughter, my grandma, my daughter and myself. If there are 9 people in just my family – there is someone you know who suffers from this genetic mutation and has been undiagnosed.

In the almost 2 years since Jordyn’s official diagnosis. We have been fighting the battles of getting medical insurance to cover dental and ophthalmology. We have been fighting to find answers, treatments, other people who have the same disorder and we are coming up empty. I don’t want her answer to always be “drink more water”, “put these eye drops in” and “brush your teeth.” We definitely do these things, but there has to be a way to increase the production of the glands she has or the ducts she has, maybe there’s a massage technique for her eyes that can relax the lacrimal glands to produce tears. While having a diagnosis sounds like relief, it has been a lot more work to figure out what to do with the diagnosis. She is a walking expirement with genetics. They’re tracking her problems and documenting them, hoping they will help other kids. We are in a rare genetic disorder clinical trial where they cross compare symptoms of patients with similar diagnoses. But this isn’t being diagnosed enough to actually get any answers. I am writing this blog in hopes of spreading awareness for this disorder in hopes of identifying ways to improve the life of my daughter.