Cummings Family Affair (GA2, MCAD and Mito)
Shawna (MCAD), Zachary (Mito), and mom, Melissa (GA2/MADD)
My name is Melissa Cummings and I have four children. Their ages range from 15 years old to 1½ years old. On April 24 th in 2003 my daughter Shawna was born. I had a wonderfully normal pregnanc
y. On the day she was born I had a non-stress test which showed contractions 3 minutes apart and that her heartbeat was dipping after each contraction. She came into the world perfectly healthy, or so we thought. We had chosen to bottle feed so due to this she spent the first night in the nursery with the nurses. The next morning they brought her in and told me she had turned blue when she was eating, but they said it was because she was so hungry. Now we know why this happened.
We left the hospital with no delays or extra instructions, as we were “seasoned parents.” On the Friday when she was only 2 weeks old we received a phone call from our pediatrician. My only thought was “how many pediatricians call a parent just to see how things are going?” The doctor said one of Shawna’s tests came back abnormal in the newborn screening. I look back and realize I don’t remember being informed about the screening that was done. The doctor could only tell us one test came back abnormal and a specialist from Albany Children’s Hospital would be calling us. I sat in shock and fear of what this all meant and just what was wrong with my daughter.
Within an hour we received a call from an angel. That angel’s name is Cheryl Clow; I now know that she must have been specially chosen to work with my family and families like mine. She explained the possibility of our daughter having MCAD (Medium Chain Acyl Co-A Dehydrogenase deficiency) and asked that we go to Albany , which is four hours away, that Monday. Cheryl also stressed to us the importance of feeding our daughter every three hours whether Shawna wakes on her own or not.
We drove the four hours to Albany. Cheryl explained in detail about MCAD, the importance of not fasting and what would occur if Shawna did fast. Cheryl explained that 80-90% of people have the MCAD gene on a specific gene site. However, Shawna did not have this “common” mutation. Cheryl also stated the new testing was giving some false positives so more testing was done. We were so sure our little angel would be one of those false positives so we did not do any research on MCAD.
During the “waiting” period we prayed and were optimistic that nothing bad would come of this. Unfortunately we were wrong. Our daughter has MCAD. We had to take extra precautions about her being exposed to illnesses. I am a teacher and my husband is a New York State Trooper so we knew we would be exposing her to many illnesses. I took the rest of the school year off with my administrator’s blessing and wishes of luck. Fortunately I would not have to go without my insurance – only my pay. The wonderful group of people that I work with approached and asked the teachers to help our family due to all of the expenses we were incurring. Since then some of these people have been a support group I can turn to for help, a shoulder or an ear to lean on and listen to.
Shawna was 8 months old when she had her first episode. She was hospitalized for two days on IV dextrose and on monitors. I still can see her little body lying there hooked up to machines and IVs. She was in the hospital again for 3½ days when she was 3½ years old for a stomach virus. Since then she has been relatively healthy. Most people see a healthy, happy, “normal” little girl with big blue eyes and beautiful blonde hair. It is hard when medical staff look at her and say “she looks fine” when I know that inside her body is screaming for help.
After Shawna was diagnosed we had the other children tested and all came back well. Two years later our specialist ordered test for me and my husband. My husband’s tests came back normal however I was diagnosed as having a rare metabolic disorder called GA2/MADD (Glutaric Acidemia type 2, a different FOD). I remember asking Cheryl, “Is that even possible?” Obviously that answer is yes. I had a normal and healthy childhood. I do remember at a young age that if I ate fatty food I would feel very sick to my stomach. My mom was always by my side when I was ill and always made sure to keep me hydrated. Little did she know it was keeping me alive. In my early twenties I began having bouts of hypoglycemia and dizziness. I was able to control it by eating many small meals throughout the day. In my late twenties I had my gallbladder removed yet I got through that very well. I think it was due to the IV I was hooked up to the entire stay. I had four pregnancies and with only two did I have gestational diabetes.
On September 22, 2005 we had our last blessing, a son we named Zachary Richard. I had a very rough pregnancy consisting of placental previa, anemia, gestational diabetes and urinary tract infections. The last three months I was taking Insulin and Iron twice a day, and an antibiotic 3 times a day. We feared that Zach would have MCAD or MADD. We thought we were blessed when the tests came back negative. At 3 months old we noticed that he could not turn his head in a particular direction. He was diagnosed with Torticolis and underwent physical therapy. All seemed to be going well until he was 6 months old and we noticed a problem with his left arm. He would drag it behind him in his saucer and he still could not sit up even with help. He started physical therapy again this time under the diagnosis of Erb’s Palsy.
Everything went well from there until he was 14 months old. It is a night that will be forever etched in my mind. He was playing with blocks on the floor and began crying in pain. When I sat beside him to see what was wrong his body stiffened and he fell backwards. I grabbed him up and his body went limp and he stopped breathing. He had had a seizure. I rushed him to the ER and they could not find anything wrong but kept him for observations. Our pediatrician at the time said that we were overreacting and that we should just let him be because there was nothing wrong with him. We found a new pediatrician who takes our children’s medical issues seriously. I contacted Cheryl Clow because I knew there was something wrong and was hoping that maybe it would be a simple metabolic issue. She ordered a series of blood tests. We also followed the ER doctor’s instructions of meeting with a neurologist. The neurologist had an EEG performed which found nothing wrong. Between the time of the first seizure and March, Zach had approximately 5 seizures that we are aware of.
On March 14 th Cheryl called to let us know that his blood tests indicated a Mitochondrial disorder. They repeated his tests and again it strongly indicated a Mitochondrial disorder. On April 10 th Zachary underwent a skin and muscle biopsy. We are now waiting for the test results to give us a detailed diagnosis. Zach has started on Carnitor and Co-Enzyme Q10 along with Ross Carbohydrate Free Formula and a special diet.
We know we are blessed to have all four children. Newborn screening in our house is a blessing that is worth any expense. I know that without it we could have lost our daughter. MCAD opened up our eyes to metabolic and in turn mitochondrial disorders which saved our son. There are times when looking at the bright side of the dark cloud is difficult, that is when my husband pushes the darkness away to help me to see the bright side. I used to question why three of us have three different disorders. The only answer I have been able to determine is that God knew we could handle it and blessed us with the knowledge of how precious life truly is and what truly matters in life. I have discovered a strength I never knew existed. Our lives have taught us to cherish every day, every step, every word and especially every “I Love You.”
My mom has always been there for me and she has taught me acceptance, patience, prayer, and given me my inner strength. She drops whatever she is doing whenever my family needs her. She has driven 30 minutes at 3am to watch the children when I have had to take one to the hospital. We feel blessed to have our friends and family here to help us.
We are blessed to have Cheryl Clow working with our family. She is so dedicated and always helps to calm my fears. She also makes me feel like my concerns are genuine and that no matter what, I know my child the best, this is not something that all medical staff have done. I have tried to turn all of this into something positive. I take the time to explain the disorders to anyone and everyone because we are all in this together. The more people who know the less likely people with these disorders will be misdiagnosed or not understood.