The Decision... Baby Makes Three
By Amy Marquez, adult with SMA type 1 and mom to Danielle 

 
When I was in my early-twenties, I recall asking my doctor, who was a general practitioner, about the concept of my having children. He was quite surprised by the question, but responded very optimistically. He stated that he believed it was possible. He reasoned that my scoliosis was not very severe, which left plenty of abdominal space for a fetus to grow. He continued to explain that I would definitely want to consult with genetic counselors when the time came, should I ever seriously consider having a child, since Spinal Muscular Atrophy (SMA) is a genetic condition. There was never even a mention of the possible ramifications bearing a child might have had on my breathing abilities or overall health, however it was apparent that my question was not taken with much weight. After all, I was not involved in a serious relationship or even dating someone, I was still living at home with my parents, and was beyond the life expectancy given to an individual diagnosed with SMA Type 1 by well over ten years.

Several years later I had discovered a "new tool" called the internet, and began using it as a means to meet people outside of my social circle. The most amazing thing about the internet was that people were able to get to know me for who I was on the inside, as a person, before they ever learned that I was disabled in a wheelchair. It was risky at times, especially when others were eager to meet face-to-face almost immediately. Nevertheless, I found it to be a great resource for weeding between those interested in creating long-lasting, quality friendships and those looking for a temporary escape from their everyday life.

Towards the beginning of 1997, I was introduced to a friend of a friend who was from Chicago, but living in Maine for the past three years. We began getting to know one another over the internet, sometimes "talking" through the modem for six hours straight. On October 7th of that same year, Steve moved back home to Chicago and we moved into our own apartment together towards the end of November 1997. Nearly one year later, on October 17, 1998, Steve and I were married, and soon afterwards began discussing the concept of raising a family. A little over two months later, in December 1998, we received the news that I was pregnant and would be expecting our first baby towards the end of August 1999. Although the pregnancy was unplanned, we were more than thrilled with the news and elated with the thought of adding a baby to our family. Along with the joys of learning a baby is on the way came some concerns as to what being pregnant and carrying a baby to term meant for our unborn child and myself due to my physical condition. It was recommended by our family doctor, Dr. Douglas Gill, that we seek prenatal care from the High Risk Specialist Team out of Loyola University Hospital. I made an appointment to meet with the team of doctors, and, in the days which led up to our initial appointment, my husband and I had some very in-depth and intense conversations covering all possible scenarios pertaining to my being pregnant and made solid decisions regarding every possibility. We both wanted a family, we both wanted this baby, and we were both willing to make extreme "sacrifices" to ensure our baby was born healthy! We had agreed that the only way abortion would be an option for us was if the doctors were 110% certain the unborn baby and myself would not survive the pregnancy. If there was even the slightest chance our baby would make it, we were willing to try and needed the same dedication from the doctors involved.

My husband, Steve, and I followed Dr. Gill’s advice, and set up an appointment to meet with the High Risk Specialist Team at Loyola University Hospital in late December. We were both very excited to begin "our nine month travel," but the Loyola Team did not offer us much hope for success. We were immediately advised to "abort the fetus" since there was no known record on file of a woman diagnosed with SMA Type I ever carrying a child to term. It was predicted that the fetus would be born either stillborn or too premature to breathe independently and, therefore, survive. I was also warned that I would suffer severe strain and trauma to my lungs and would be on a ventilator well before the second trimester. Furthermore, the odds of my ever being weaned off of the vent were near impossible. Nevertheless, our first visit was far more positive than our second, and final, meeting with the doctors. At least the first doctor offered to "attempt to work with us" if we truly decided we wanted this baby, even after weighing all the odds.

Soon after our initial visit to Loyola Hospital, we decided to seek out a second opinion. All we hoped for was to find a doctor with hands-on experience in delivering babies to women with disabilities, and someone willing to talk with us as opposed to at us. I quickly began to research various disability- related outreach type sources, and, as a result, found myself in touch with Dr Eileen Murphy, Obstetrician/Gynecologist out of Northwestern Memorial Hospital and the Rehabilitation Institute of Chicago. While our initial conversation with Eileen Murphy was very open and honest - at times painfully so - discussing issues such as compromised breathing, bed restriction, and the possibility of death for myself and my child, it offered Steve and I a great amount of hope and promise for the future of the pregnancy and the issues at stake. So long as we were 110% committed and determined to bringing a child into this world, into our family, we were truly convinced that having a successful pregnancy was an immense possibility, although it would not always been an easy "road to travel." Dr. Murphy recommended that I have an ultrasound during my next visit with the High Risk Team at Loyola Hospital, and to see her after the appointment, at which time we would bring in the expertise of a physiatrist and pulmonologist to assist throughout the pregnancy.

During our second, and final, visit with the High Risk Specialist Team at Loyola University Hospital we had the opportunity to undergo an ultrasound and "see" our baby face-to-face for the first time. S/he was the most beautiful sight we had ever seen; every feature appeared absolutely perfect! Nevertheless, we determined that the doctors at Loyola Hospital would not see "our pregnancy" through to the end due to their attitudes and severe lack of bedside manners. Steve and I left our last visit at Loyola with a renewed sense of hope and determination in ensuring our pregnancy was going to be a success, and we would be able to provide the highest quality of care possible for our baby throughout the pregnancy and thereafter. Steve and I met with Dr. Eileen Murphy at the Rehabilitation Institute of Chicago in early January 1999, at which time physiatrist Dr. Kristy Kirschner, pulmonologist Dr. Chris Winslow, and respiratory specialist Dr. John Parsons were "brought into the picture" to complete the team of doctors to assist on a regular/ frequent basis throughout the pregnancy. We felt immensely comfortable with our decision to obtain a second opinion, and knew immediately that we had found the doctors we were searching for; we were confident in entrusting my life and the life of our baby to this team from the initial moment of meeting them. Every member of the RIC Team was willing to listen, work with us, and take whatever risks were necessary to help bring our baby into this world alive and healthy.

Over the course of the next several weeks, per the recommendation of Drs. Murphy and Kirschner, Steve and I met with a variety of specialists within the medical field. A geneticist was able to confirm my diagnosis of Spinal Muscular Atrophy and inform us that Steve was (is) not a carrier of SMA, therefore we decided not to have our unborn baby tested. The geneticist was also able to provide us with a more comprehensive understanding of Addison’s Disease, a condition that affects Steve and members of his family, and the ramifications such a disease could have on our child. We also met with a neuromuscular specialist through the Muscular Dystrophy Association who questioned my being categorized with Werdnig-Hoffmann Disease, or SMA Type 1. While he was unable to provide is with a more accurate classification, he did assure us that individuals diagnosed with Type I do not live to an age appropriate to bear children. Finally, I underwent an electrical impulse test to determine the extent of deterioration caused to my nerves and muscles.

It appeared as if we completed our visits to the "specialists" at the perfect time, considering the effects of the pregnancy/being pregnant hit me full-force shortly afterwards. Quite suddenly, my senses became far more acute and increasingly heightened. The faintest of smells rapidly grew overpowering, sounds equivalent to a whisper were comparable to normal conversation, bright light was blinding, and various tastes and scents that I once enjoyed (or had never bothered me previously) now made me gag and/or wretch. The nausea reached a point where it got the best of me, and the vomiting soon led to dehydration. To help me get a better handle the situation, I was placed on intravenous fluids and bed rest, while a nurse came to visit me at home over the course of ten days. Physically and psychologically, it was an immensely difficult time for me; I often struggled with thoughts pertaining to what the future held for our baby, my husband, and even myself. Despite my concerns, when the second trimester arrived, it was as if a switch was flipped and the vomiting abruptly stopped. Any mild bouts of nausea were easily combated with lemon slices, lemon drops, etc. Yes, anything lemon was a great friend for quite some time! I soon felt healthier and stronger than I ever had in the past, and the feelings appeared to increase as time progressed. We (my husband, myself, and our doctors) decided to "take advantage" of my health, and prepare for occasions throughout the pregnancy that may not be so positive. I explored and worked with a variety of different tracheotomy tubes and ventilators in an effort to familiarize myself with the notion of having a machine breathe for me. Initially, it was a very difficult concept to grasp, but we soon reached a compromise by using a BiPap whenever necessary.

Much to the amazement of all medical professionals involved in our pregnancy, I never required full use of a ventilator. The ONLY difficulty with breathing that I experienced was, during the second trimester, after I consumed a full meal. Dr. Winslow and I tested such problems during an office visit, and learned that my oxygen levels indicated that it wasn’t purely psychological. Nevertheless, it was recommended that I eat continually throughout the day, rather than two or three full meals, thus avoiding "overcrowding" while constantly providing the baby with the necessary nutrients. It was amazing that such simple advice proved to be so vital in alleviating my breathing troubles!

Throughout the later stages of the pregnancy, somewhere beyond the fifth month, I began to experience some issues with physical discomfort and pain. Initially such levels were fairly mild and remained so for quite some time, often alleviated by "filling-in" with a small pillow, stretching, and/or the use of a hot/cold pack (a tool that worked wonders for getting the baby to reposition whenever s/he decided to jab me in the ribs or lungs). Nevertheless, the pain grew with immense severity a month into the third trimester, and I went into labor over the Independence Day holiday. I went into the hospital, was monitored over the span of seven hours, and did not dilate at all. Upon first examination, it was believed that I was dehydrated, however the labor pains grew in intensity as my hydration levels increased. There was no "logical" explanation for being in labor and, as a result, I was given Toridol to help soothe the pain, and sent home with hopes that all would subside.

Unfortunately, life had other plans in store for me, and the following day brought about pain far greater than those experienced at any previous point during the pregnancy. I also developed "body shakes" and an overall restlessness, regardless of my surroundings. On July 6, 1999, Steve and I met with Drs. Kirschner and Murphy to discuss what I was physically going through, and together determined the best solution was to admit me into Northwestern Memorial Hospital so that our team of doctors, collectively, could assist with my pain management up until the birth of our baby. As anticipated, my pain and discomfort intensified with each passing day as our baby increased in size, taking up more and more of my internal space. I was placed on bed rest, utilized the technology of a TANS Unit, and underwent physical therapy in an effort to ease some of the discomfort. While the TANS Unit did nothing for me despite being at the highest setting, physical therapy offered some relief, although it was only temporary. By mid July, the restlessness and pain became unbearable; no amount of therapy, repositioning, or pain medication would alleviate what I was experiencing.

After much consideration, Dr. Murphy agreed to take our baby on July 19, 1999 pending the results of an amniocentesis. The amniocentesis was scheduled for early Monday morning, July 19, 1999, and the results revealed the baby’s lungs were fully developed. The delivery was set for afternoon of the same day, with hopes that my body would accept an epidural and I could be awake to welcome our child into the world. However, the epidural would not take due to my scoliosis, and all involved agreed to move ahead with Plan B; it was time for me to go to sleep and take a short nap. I was "hooked up" to a ventilator, only to be awakened hours later by Dr. Murphy and a beautiful new bundle sleeping on my chest. Steve and I were able to spend a few moments with our new daughter, Danielle Coral (born at 34 and 1/2 weeks gestation, weighing 4 pounds 10 ounces and 17 inches long) before I was taken to the Surgical Intensive Care Unit, where I was to stay overnight. I remained on the ventilator for several hours after surgery, and finally had it removed on the condition I would go back on it should I experience any trouble breathing. Nurses frequented my room throughout the night to press on my uterus, as a means of helping it regain its shape. The pain was horrendous, always bringing me to tears (since I could not get up and run away). Regardless, I would endure it all over again...so long as Steve and the same team of doctors were right beside me, encouraging and helping me through!