When Life Hands You Lemons, Check for a Genetic Mutation

You walk out of the doctor’s office after just getting the news that the tests came back positive. Suddenly, your whole world, as you know it, has turned upside down, and nothing is the same. Rare Disease? Me: There’s no way this is happening, because I was once the person who prayed for people with medical problems, and now I am in the same boat?

You’re asking yourself all these questions, but you don’t have any real answers. The worries of what this diagnosis might bring become consuming thoughts, and it leads to a whirlwind of emotions. You don’t know who to turn to, where to go, and life feels like a bunch of question marks.

 I was confused for years after getting the diagnosis. I was scared of those two words: Myotonic Dystrophy.  I had no idea what this disease meant, and I think that’s the scariest part – the not knowing. I decided to Google the disease (bad idea, we’ll talk about it later). Seeing the symptoms and terrifying words, mostly one terrifying word, is truly what led me to advocate for this horrendous disease.

 I wish there were someone I could have turned to when I got diagnosed to learn about the disease. I wish I could have known the medical challenges I would endure; I wish I could have told myself about the pain, suffering, and loneliness I would face. I would also tell myself about the blessings, sunrises, and beauty I would see because of it.

I hope through a series of blog posts you’ll come to know Myotonic Dystrophy as a disease that isn’t lurking in the shadows and trying to push you down, but a pesky hindrance that shouldn’t be something you are afraid of. But let’s be honest, Myotonic Dystrophy is real, and so is the embarrassing feeling of being the youngest in a doctor’s office, explaining your illness to everyone you meet, or the sinking feeling that you sometimes get in the pit of your stomach when things are out of control.

I had no one around to tell me what this illness was, or the war it would wreak on my family. My family was still learning about this disease based on what different doctors knew, which wasn’t much. I was stuck between wanting to start my new life with this diagnosis, but not even knowing where to begin.

 There is nothing easy about chronic illness. Things that were as simple as getting dressed, brushing your teeth, and starting your day can become things that take every ounce of energy you have, and that’s not a lot.

For those who don’t have a chronic illness, think of it like you have a hangover and just got run over by a bus, and you’re dealing with the aftereffects for the rest of your life.

There’s too much to write; it will take me dozens of blog posts and then some, so let’s start off with simple but intense questions and answers.

What is Myotonic Dystrophy? Myotonic Dystrophy is a neuromuscular disease that causes a range of symptoms. It’s a complex disease, but in short, the disease causes the inability for your muscles to relax. They are continuously shooting and firing off even when you are sleeping, sitting down, or self-caring to the max.     Because the muscles are constantly working, that means they are over exhorting themselves which can lead to massive pain, crippling fatigue, minimum strength, weakened endurance, and overall, the inability to be active. And those are just some of the major symptoms caused by the overworking of the muscles themselves. There are four types of Myotonic Dystrophy:

Myotonic Dystrophy Type One – Myotonic Dystrophy typically begins in adolescence or in early adulthood. It is a slow progression and deals with a plethora of common symptoms such as Myotonia, Muscle Pain, Cardiac Abnormalities, Excessive Fatigue, and early cataracts, amongst other things. DM1 affects muscles far from the center of the body.

Myotonic Dystrophy Type Two – This type is usually only seen in adults and rarely affects those in younger years. DM2 tends to only affect muscles in the center of the body. Most of the time, DM2 is less severe than DM1, but it can affect mobility faster than patients with DM1 caused by weakness of the hip muscles.

Juvenile Onset (DM One) – This type begins in adulthood or before adolescence. Symptoms include cognitive and behavioral symptoms, muscle weakness, Myotonia, Anxiety, and ADD.

 Congenital Onset (DM One) – Symptoms present themselves at birth and can cause low fetal movement, severe muscle weakness, extreme hypotonia, trouble feeding, cognitive impairment, respiratory failure, and other developmental abnormalities. This is the most severe type of Myotonic Dystrophy out of the four types. 

What causes Myotonic Dystrophy? Myotonic Dystrophy Type One is caused by a gene on chromosome 19 that has an abnormally large area close to the regulation region of another gene. Myotonic Dystrophy Type Two is caused by an abnormally large section in a gene on chromosome 3. It’s verrrrry confusing; it’s basically caused by a change in your genes, and each type is caused by a different genetic change. Myotonic Dystrophy, or DM, happens because there is a mistake in our DNA.

How does Myotonic Dystrophy progress? Just like the severity of cases can vary, so can the progression of the disease. In some cases, the progression can happen slowly, but in other cases, patients can see the progression happen rapidly. Overall, DM is the progression of muscle degeneration, weakness, and a decrease in muscle tissue.

Is this disease life-threatening? Because the disease attacks various organs in the body, it is life-threatening. It is especially dangerous in congenital forms due to the impact the disease can have on the heart, lungs, and other vital organs. It is important to note that the management and care of symptoms can improve the patient’s quality of life and even reduce complications. 

Is there a cure or medication? There is no cure or medication to slow or aid in the progression. However, routine checkups with doctors can help manage symptoms.

What are the symptoms of Myotonic Dystrophy? Symptoms from Myotonic Dystrophy can also be caused by a variety of illnesses, or a lot of the time people have a lot of these symptoms but blame them on something else. These are some of the symptoms that could point to Myotonic Dystrophy.

 ·      Excessive fatigue often labeled as depression or laziness

·      Slurred Speech

·      Abnormal Liver

·      Bowel Issues (Diarrhea, Constipation, Pseudo-obstruction, Pain, Bloating, Perforations, diverticulitis)

·      Myotonia (This is the inability to contract your muscles; this can be present in the hands, ankles, and tongue, and can also appear as pain and cramping in the legs.)

·      Early Onset Cataracts

·      Droopy Eyelids

·      Facial Weakness (This can appear to look like someone is bored, exhausted, or uninterested.)

·      Early Onset Balding

·      Foot Dropping

·      Frequent Falling

·      Swallowing Problems, Choking on food, frequent chest infections

·      Cognitive Difficulties or Cognitive Decline

·      Learning Difficulties

·      Autism and ADHD traits

·      Cardiac Issues (Long QT, BBB, Cardiomyopathy, low BP, Tachycardia, Bradycardia)

·      CO2 Retention, Nighttime Hyperventilation, Apneas

Symptoms that a newborn baby might show include Bilateral Talipes, Bradycardia, difficulty with swallowing or breathing, and a tented lip.

 It’s important to note that these aren’t all the symptoms that come from Myotonic Dystrophy. If there is a family history present, it is important to bring it up to your doctor. Since Myotonic Dystrophy is a genetic trait, it worsens with each generation, especially if carried down from the mother.  

What Doctors should I be seeing if I have Myotonic Dystrophy? This can vary from person to person. Your number one doctor will be your neurologist, and you should make a game plan with him about what other specialists you’ll need to see. I will give you a list of the doctors and specialists I see:

Nuerologist

Cardiologist and Electrophysiologist

Pulmonologist

Opthmologst

Endrocrinologist

Physical Therapist

Mental Health Professional.

What medications can be used to manage symptoms? Because the severity of symptoms is different for everyone, it is best to discuss options with your healthcare provider. Some options to discuss with your doctor might be; Mexiletine (to help with Myotonia), Antidepressants (to aid anxiety and depression), Modafinil (to help with excessive day time fatigue), Gabapentin (to aid in pain relief).

How often do I need checkups and/or tests? This all depends on baseline readings, severity and types of symptoms, and the progression of your disease. It is best to talk to your healthcare provider in terms of recurring appointments and tests.

Are there clinical trials I can join? You can find active clinical trials on Myotonic.org under the Study and Trial Resource Center. There are amazing companies such as Avidity Biosciences and DYNE-101 that are working on creating cures and medications for the reversal of Myotonic Dystrophy. It is important to talk to your health care provider before taking part in clinical trials, as some are harsh and can cause irreversible damage.

Are there therapies available that can improve quality of life? Therapies such as Physical Therapy, Speech Therapy, and Mental Health Therapy can improve one’s quality of life in different aspects.

 If I want children, are they going to inherit the disease? Because Myotonic Dystrophy is passed on through genetics, there is a fifty percent chance that your child will inherit the disease. Only one altered gene is needed for the child to inherit Myotonic Dystrophy. If the gene does not get passed on, the child will never inherit the disease. It is encouraged to talk to a genetic family counselor to learn more.

 Did you Google DM right away? Yes, I was so confused by it, and I needed answers right away. When I typed What is Myotonic Dystrophy? into the search bar, I knew that this might be the worst idea, but I was so desperate to understand the disease. This is why I think it’s so important for more information to be given to new patients by doctors, especially to the parents of younger patients, so that at least their parents or parental guardians have some answers.

If you guys are interested in these types of posts, comment below! Today, wear green and/or zebra stripes to show your support for those living with Myotonic Dystrophy. The best thing you can do is tell someone about Myotonic Dysrophy because when you say it, it becomes less rare.