Not the Easiest to Explain
I’ll do my best to explain the majority of Madison’s health issues in a way that you can understand, however it won’t be easy. She is quite the complex patient!
MTHFR
Madison was born with a MTHFR gene mutation. She actually has 2 mutated copies of A1298C. Methylenetetrahydrofolate reductase (MTHFR) is an enzyme that plays a crucial role in the metabolism of folate, a B vitamin. MTHFR converts 5,10 methylenetetrahydrofolates into 5-methyltrahydrofolate which is an active form of folate. This is vital for cell growth and division, neural tube development, cardiovascular health supporting the production of homocysteine which can damage blood vessels if too high, and mental health.
Mutations in the MTHFR gene can lead to a decrease of MTHFR enzyme activity. This decrease could make it difficult to process folate, potentially leading to elevated homocysteine levels and increased risks for cardiovascular disease, neurological issues, and pregnancy complications.
It’s important to know that MTHFR is common and doesn’t mean that you will have health issues. There are 2 common variants. A1298C and C677T. My son actually has one mutated copy of C677T. It is passed down from the parents.
Ehlers Danlos Syndrome
Ehlers Danlos Syndrome is a group of inherited of disorders that affect the connective tissue. There are different groups of connective tissue. Loose, dense and specialized. Loose connective tissue holds organs in place, dense connective tissue helps attach muscle to bones and link bones together at joints. Specialized connective tissue includes many different tissues with specialized cells. Some are solid and strong, and others are fluid and flexible. A few examples include cartilage, bone, and blood.
There are 13 types of EDS. Each type has its own set of features with certain diagnostic criteria. There are some features that can be seen across all types of EDS. These would include joint hypermobility, skin hyperextensibility, and tissue fragility. If you don’t know what joint hypermobility is. it means that a person’s joints have a greater range of motion than they should. this could lead to joint instability and to joint subluxations. dislocations, sprains, and other injuries. Joint instability can cause chronic pain and interfere with daily life. Not everyone with a type of EDS joint hypermobility. For further reading on EDS, click the link What is EDS? – The Ehlers Danlos Society, The EDS Clinic: Medical Care for Ehlers Danlos Syndrome via Telehealth, Home – Hypermobility and Ehlers-Danlos Clinic @ The Fascia Institute
Madison has Hypermobile Ehlers Danlos Syndrome (hEDS). Madisons list of comorbidities is quite long as it one of the most complex conditions affecting the human body because EDS impacts almost every system. As a result, there is so much more to learn about EDS. Certainly, more awareness is needed.
Just to give an idea of the comorbidities that come along with EDS, I have listed some groups below.
Neurological and Spine Problems
Joint Issues
Digestive Disorders
Cardiovascular Problems
Skin issues
Bladder Disorders
Sexual and Pelvic Health
Dental Issues
Psychological Conditions
Immunological and Allergies
Eye Conditions
Chronic Fatigue Syndrome
Autonomic Dysregulation
Pain Disorders
Sleep Disorders
Bone Disorders
Vascular Compression Syndromes
Individuals with EDS, marked by loose or fragile connective tissues, may be more susceptible to vascular compression syndromes due to the laxity and mobility of the tissues. These are a group of conditions where blood vessels are compressed by external structures, leading to restricted blood flow and multiple symptoms. In order to keep this as simple as possible, I will name the compression syndromes Madison has or currently has.
Median Arcuate Ligament Syndrome (MALS)
Compression of the celiac artery by a fibrous band (median arcuate ligament). This happens in the lower part of your chest as the median arcuate sits lower than normal and presses against the main blood vessel that supplies blood to the stomach, liver, and other organs. It can also press against the nerves around the artery. This slows the blood to those organs and can cause pain in the top part of your stomach.
Symptoms include nausea, vomiting, diarrhea, delayed gastric emptying, bloating, weight loss, upper abdominal pain after eating or exercising, and fear of eating due to pain.
MALS was the first compression that we were aware Madison had, and she was so she sick. It took years to get her diagnosed. After countless emergency room visits, doctor visits, a cholecystectomy, an appendectomy, a lot of tests, we still had no answers. It doesn’t have to be hard to diagnose. But most doctors don’t look for it. Thankfully we ended up with a doctor that DID look for it years after she had been suffering with all the symptoms listed above. But when the test came back positive, they didn’t say anything until I asked. And her doctors said that although she had the symptoms and the test showed MALS, they didn’t believe she had it. She was told by her GI doctor that she was doing this to herself and that she was depressed. Her other doctor told her that hopefully she would grow out of it.
After that, we had to go out of state for help. It was 2021. Madison was a senior in high school. This trip is where we met incredible people and was the first time we learned of EDS.
Nutcracker Syndrome (NCS)
Occurs when the left renal vein (LVR) is compressed between the aorta and the superior mesenteric artery. The LRV carries blood away from your left kidney and back to your heart. The compression raises the blood pressure in your renal vein and forces some blood to flow in the wrong direction. As a result, nearby veins swell, causing symptoms which can lead to complications.
Symptoms include flank pain on left side, blood in urine, headaches, dizziness, pelvic pain, pain when urinating, pain during sex, anemia, too much protein in urine, severe pain that can interfere with quality of life.
Continuing with Madisons experience with compressions, Nutcracker was the second compression we learned she had. Her surgeon for MALS found it when he did his own testing. He had actually done a few surgeries to correct this in an, I guess what I could describe now as an unconventional way. During her MALS surgery he performed a Modified LADDS procedure to give her left renal vein space. This procedure is used to treat malrotation in babies. In addition to those procedures, he also placed a feeding tube as recovery from MALS surgery is tough. A few days after this surgery, all hell broke loose.
Superior Mesenteric Artery Syndrome (SMAS)
Technically, Madison didn’t have this one, but she did have the surgery to correct it so I’m going to cover it. Not to mention, most that have these compressions do have SMAS as well.
This one is potentially life threatening. This compression occurs when the duodenum, part of the small intestine, becomes pinched between the aorta and the superior mesenteric artery (SMA). The exact cause is not known, but weight loss and surgery particularly abdominal or spinal surgery for scoliosis can contribute.
Symptoms can include abdominal pain specially after eating, pain that worsens when lying on your back, getting full early, nausea, and vomiting.
After Madisons surgery for MALS, Nutcracker, and feeding tube was placed, she did ok for a day or two. Then the excruciating pain, severe nausea, and vomiting started. It was awful. Her feeding tube which was a gastrostomy-jejunostomy tube (GJ) was draining. A GJ tube is a tube that is placed into the stomach and small intestine. The G portion is used to vent or drain the stomach. She started draining 4 liters of bile a day I named this BOB (bag of bile). They couldn’t figure out what was wrong.
After being in this condition for about 3 weeks, she had to have another open abdominal surgery. When her surgeon had performed the LADD procedure, adhesions (scar tissue) formed on her duodenum and it restricted movement. because of this, she had all the symptoms of SMAS. The surgery to correct SMAS is a Duodenojejunostomy (DDJ).
Did I mention we were 12 hours from home, and we were in a Covid lock down during this time? What was to be a 3-week trip became a 2-month trip.
Mast Cell Activation Syndrome
Mast cell activation syndrome (MCAS) is a condition that occurs when the mast cells in your body release too much of a substance that causes allergy-like symptoms. Triggers vary from person to person, but common factors include environmental factors like weather changes, chemical or natural orders, pollution, and pet dander. Another factor is food and drinks, like alcohol, spicy foods, additives, or certain foods.
Symptoms can vary also and can affect multiple organ systems. With skin, it can cause flushing, rash, swelling, itching, hives. With gastrointestinal. it can cause abdominal pain, diarrhea, nausea, vomiting, and heartburn.
Nutcracker Syndrome (NCS) AGAIN
In 2021 we had Hurricane Ida come through and damaged our area really bad. Hospitals couldn’t operate so they had these makeshift emergency tents. Madison got super sick and although we tried the medical set ups they had, they couldn’t do any tests. We knew if we wanted to accomplish anything that we would have to fly out of state. Madisons surgeon in North Carolina said he would gladly help us out so off we went.
Testing included labs, x-rays, endoscopy, colonoscopy, mesenteric duplex ultrasound, cat scan, and gastric emptying study. The tests showed that Madisons left renal vein was compressed again. The doctor said it was just as bad as the first time. He’s not a vascular surgeon so he referred us to a vascular surgeon at the hospital. Although the tests did confirm her left renal vein was compressed again, she said she didn’t want to investigate further. The doctor was shocked and urged us to get a second opinion. It’s now October 2021.
This is also when we learned that it was possible that Madison had MCAS.
We didn’t know what to do or who to go to at this point. I’ll spare details of the journey it took us to get to May 2022. Madison was now on Total Parenteral Nutrition (TPN) because she couldn’t eat again, and she couldn’t use her feeding tube as it caused too much pain. I had to fight to get her on TPN, but I’m convinced it got her healthy enough to have her surgery. This surgery was life changing for Madison. She got off TPN 2 months later, applied and was accepted to the Disney College Program.
May Thurner Syndrome & Pelvic Congestion Syndrome
Occurs when the left common iliac vein is compressed by the right common iliac artery making it harder for blood to flow back to your heart.
Symptoms for May Thurner are discolored skin on leg, enlarged leg veins, pain, throbbing, tenderness in leg.
Females with May Thurner can also develop Pelvic Congestion Syndrome. It causes a lot of pain in the pelvic region due to impaired blood flow.
Madison had surgery in August of 2023.
Postural Orthostatic Tachycardia Syndrome (POTS)
This occurs when the heart rate increases when there’s a change in posture such as lying to sitting or standing.
The symptoms are dizziness, lightheadedness, nausea, brain fog, troubling focusing or remembering, fainting or feeling faint, insomnia, heart palpitations, blurred vision, headaches, excessive sweating, chest pain and shortness of breath, fatigue and exercise intolerance, and bloating.
There is no cure for POTS. Symptoms can be managed through different strategies like lifestyle adjustments, dietary changes, physical therapy and medications.
POTS can significantly impact everyday life.