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Mom's intuition hits the mark



Pregancy, birth and diagnosis of a daugther with special needs

special needs, disabilities, rare disease
 
  As a woman with a lifelong goal of becoming a mother, deciding to have a child was the easiest decision that I have ever had to make.

   Prior to trying to conceive, I met with a team of specialists since I knew my pregnancy would be considered high-risk. I have a rare condition, Ehlers-Danlos Syndrome (EDS). It's a genetic, connective tissue disorder that causes the hypermobility of joints (which often results in dislocations), chronic pain, and sensitive skin that bruises easily and is slow to heal.

   Although my specialists' repeatedly told me I could pass EDS to the child I wanted to conceive, it did not concern me. My EDS was mild and I had lived a completely normal life for twenty-seven years. The only limit I faced as a result of EDS was having to quit cheerleading at my pediatrician's advice. At the time I was devastated, but when I looked back, EDS had not altered my life much. I now know, however, that no two individuals with EDS have the same symptoms.

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 Precarious pregnancy

   I became pregnant and during that time had frequent obstetrician-gynecologist and Maternal Fetal Medicine appointments. Since it was my first pregnancy, I had nothing to compare the experience to except for exchanges with my sister who was also pregnant. Troublesome, however, was that during my physician appointments, my blood pressure readings were through the roof and protein was shown to be in my urine each time it was tested.

   My body also was so swollen that I could only wear socks or slippers on my feet and upon waking each morning my hands were so puffy that my fingers would curl into a ball. I was told repeatedly that these were normal conditions of being pregnant, until eventually, my doctors discovered that I had severe Preeclampsia, a condition that can lead to birth complications and other problems. I was then induced and my daughter, Quinn, was born.

   Weighing five pounds and measuring eighteen inches long, she was the tiniest baby I had ever held, but she seemed healthy and well. I was absolutely in love. My life's purpose was fulfilled. I gave birth at 2:09 a.m. and stayed awake for the remainder of the morning, holding her in awe. She was alert and kept reaching out to touch my hand.

   Yet blood tests determined that Quinn had a dangerously low blood sugar level. Subsequent monitoring required that her foot got pricked repeatedly, leaving her tiny feet raw. I took note of sign number one for EDS-sensitive skin that bruises easily and is slow to heal. In my heart, I knew that Quinn also had Ehlers-Danlos Syndrome.

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A mothers intuition

   Then came sign number two. Quinn had a vibrant cry, but it soon became raspy and quieter. I expressed my concern to the nurses and was told it was because my room was dry. Later, I noticed that Quinn became distressed while crying from her sore foot or hunger. This was sign number two-chronic pain. I asked for her to be examined and was told she was fine.

   We were sent home the next day and I made an emergency appointment with her pediatrician. There I learned that Quinn's airway was constricted from the magnesium I was given shortly before her birth and through my breastmilk. It was sign number three of possible EDS-an inability to process some medicines' correctly. I, for example, am allergic to Benadryl.

   From there, Quinn's life centered on frequent doctor visits. She was constantly monitored yet proved her strength to us all. As she grew, my hunch file grew, as well.

   I noticed, for instance, that upon sitting independently around the age of six months, Quinn's eye muscles appeared weak. Sign number four-faulty connective tissues, in this case, the tissues around her eyes. Every time she gazed upwards to look at me, I noticed distress in her eyes as they moved. She wrinkled her forehead to bring her eyes where she wanted to look.

   At a year-old Quinn was hospitalized for hypothermia. No cause was determined, nor a diagnosis found to explain why it happened. Intellectually, Quinn hit milestones early, like speaking in full sentences prior to her first birthday. Still, my friends and family often commented on how floppy she was while holding her.

   I knew this, but to have others that were mildly familiar with EDS point it out was alarming. At the same time, it also was reassuring since others noticed what I had, too.

   I had Quinn evaluated through Early Intervention, but when her above-average intelligence was combined with her other test results in a standardized way, Quinn was did not qualify for intervention services. The same results were produced when Quinn was reevaluated a year later at two years old. I began her on a physical therapy regime.

Diagnosis and support

   Fast forward to her third year. Ehlers-Danlos Syndrome is listed in Quinn's 200-plus-page medical file as her diagnosis. She is unable to climb stairs independently, stand on one leg, hop on one foot, or run without falling and often expresses being in pain. But she also has a support team that includes her pediatrician, physical therapist, occupational therapist, neurologist, cardiologist, geneticist, and an amazing group of teachers and aides in her corner. It is no longer just me.

Rebecca Mills is a devoted mother residing in the Hudson Valley. She taught fourth grade prior to pursuing her lifelong dream of having a daughter. With a Master's Degree in Literacy, writing is a deep passion of hers and something she truly enjoys. Raising a child with special needs takes up most of her time, however, in the event free time arises, you will find Becky lost in the latest Nicholas Sparks novel.