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.

Advocate. Advocate. Advocate.

An advocate is a person who pleads for another’s cause or writes in support of something.

If there is one thing that I have learned in the last 2 years, it is the importance of advocating for yourself and in my case, my children. When I was pregnant with my second child, I knew something was wrong. I was extremely tired, bruising easily and didn’t understand. I asked my OBGYN to have my blood drawn to figure out what was going on. After blood work and being referred to a hematologist, it turns out I had Gestational Thrombocytopenia. This is a condition in which your platelets in your blood drop below a safe number. In my case, they were a safe enough level to not need intervention, however, I was medically unable to receive an epidural (if I had wanted one) and I was considered high risk for hemorrhaging during birth. If I had not advocated for myself during that second trimester when things weren’t getting any better, I could have ended up in the delivery room unaware of the underlying condition I had. It is also worth mentioning that after looking back on my first pregnancy, I had this then as well but my numbers were a touch higher so never a cause for concern.

Continuing on the journey of my second pregnancy, I always felt like she wasn’t growing, or at least was not growing at a normal rate. Appointment after appointment I mentioned to the doctor. I often did measure right on track or a week behind, depending on her position. It was around 33 weeks that I stopped measuring within 2 weeks of her estimated gestational age. This was when I was referred to a high risk pregnancy doctor. That doctor did a series of ultrasounds comparing the measurements between each one. I went every 2 weeks. At 33 weeks, she was measuring 31. At 35 weeks, she was measuring 33. At 38 weeks, she was still measuring 33, which meant she had not grown at all in 2 weeks. The last month of pregnancy is actually when most of the growing happens. So it was extremely alarming that she hadn’t grown in 2 weeks. This was when the doctor told me that I was to go home, get my things in order and make my way to the hospital because I was having a baby that day. I was terrified.

You’re probably wondering what this has to do with advocacy. It took me advocating for myself and my daughter for them to realize that there really was a problem. Fast forward 5 hours from that conversation, I had just pushed my beautiful baby girl out. She wasn’t breathing. She couldn’t breath on her own. The respiratory therapists immediately took her from me and began to do what they are trained for; they pumped her lungs, gave her oxygen, massaged her body, anything to get that baby to breath. It wasn’t until 5 minutes later that I could finally breathe; she cried. When she cried I knew that she was going to be okay. Luckily that was all the help that she needed that day so we were able to stay together without a NICU stay. Thank God for respiratory therapists, and especially pediatric respiratory therapists! They were my angels on earth that day.

Baby girl was born with a scare, but healthy otherwise. The days and weeks following her birth we had the normal appointments with her pediatrician to check her growth. She was growing right on track. But, I noticed something odd. Her lips were ALWAYS peeling. No matter what I did, her lips would peel. Lanolin, peel. Chapstick, peel. Breastmilk, peel. At her 1 week appointment, I brought this up to her pediatrician. He responded “Well she went from a very wet environment to a very dry one. This is normal.” Boy was he wrong.

2 month appointment, mouth still dry, lips still cracking. 4 month appointment, mouth still dry, lips still cracking, and she is teething. 6 month appointment, mouth still dry, lips still cracking, she has teeth now, and she is having issues with dry food/puffs getting stuck in the roof of her mouth. 9 month appointment, at this point I am pretty frustrated that we have gotten nowhere and my poor baby still has extremely dry mouth and continues to cut teeth! He finally agrees that it is very odd that she doesn’t drool and that she has issues eating and that she has never cried a tear. We get a referral to the Children’s Hospital ENT. ENT orders an ultrasound for her mouth to see if she has any salivary glands, she also sends a referral to the ophthalmologist for her tear ducts. In case you were wondering, a 9 month old does not sit still for an ultrasound device to be ON THEIR FACE. So that went well. Came back, no salivary glands visible. Okay, maybe she moved too much. ENT orders an MRI to get a solid answer.

This whole process with the Children’s Hospital took 3 months. She was 13 months when we finally got in for the MRI. She had to be sedated, if you’re a parent you know just how terrifying it is for your baby to be put under for any procedure. She was in and out within 45 minutes. We got the MRI Results the next day. She had one small parotid gland under her tongue, but she has no other salivary glands. These are things that form as they grow in utero, they aren’t things that will show up later in her life. Whew we finally have answers. Now, what do we do with those answers?

We got those results 9 months ago. With those results we got a referral to a geneticist because, come to find out, I have an aunt and cousin who have the same problem. They are thinking this could be the tip of the iceberg for determining what gene causes glands to not develop. So after 9 months of being on the waiting list, length partially due to COVID, we have an appointment next week. This will begin our next journey of advocacy for figuring out what causes this and what we can do to help, because there is no treatment for those who don’t have any glands. You can be treated if your glands don’t produce much saliva, but to have no glands at all, or even one, those treatments don’t help you.

It is so important to advocate for yourself and your children. If you don’t advocate, then who will? When we realized that my aunt had the same situation she told me, “well no one ever cared to look into it more.” Well, the reality is that if she or my grandparents had advocated for more answers to WHY this was happening, we could already have research and studies and medications to treat this. But, because they accepted “it is what it is” as an answer, my advocacy for my daughter is now paving the way to finding out answers for my whole family and potentially thousands of other people across the United States and the World.

Never take “I don’t know” as an answer. Press for deeper, more fact based answers. Be your own advocate and advocate for those who are unable to advocate for themselves.

Sometimes you have to be your own hero.