Lucy Update January 12, 2011
Every baby has a Newborn Screening test done at birth. Until recently, most states only screened for 3-4 disorders. Louisiana now screens for 29 disorders. At Lucy’s visit to the Children’s Clinic the Sunday after she was born, Dr Thompson told us Lucy’s Newborn Screening (NBS) had come back abnormal and it would need to be repeated as well as a urine sample. At that time many people reassured us that it happens often and rarely does it come back abnormal for the 2nd time. In September, we were notified by the Children’s Clinic that her 2nd Newborn Screening still came back abnormal and that Tulane genetics would be contacting us for further testing. I immediately called Phaidra at Tulane genetics.
Phaidra informed me that Lucy had been flagged for MCAD, Medium Chain Acetyl-coA Deficiency. We did not do much research before seeing the doctor. The internet can be dangerous with information. Wes and I did basic research and found that we would have to make sure she ate often in order to keep her blood sugar level up. We did have some further genetic testing done at Womens and Childrens in Lafayette. We have been waiting for results since then. I got a call at the end of December to set up an appointment to see Dr Hans Andersson, a Human Genetics Specialist at Tulane. We made an appointment for January 11, 2011.
We made the drive to Tulane in New Orleans. The first person we saw was Chris, a genetic counselor. He explained to us that MCAD is a disorder where Lucy would have difficulty, or lack the ability, to break down medium sized fats. There are four different types of fat chains: Very Large, Large, Medium, and Small. When our bodies go into fasting mode, we begin to break down the fat chains to make sugar in order to give our cells energy. In the case of MCAD, Lucy’s body would lack the enzyme to break down the Medium Fat Chain and she would not be able to sustain her blood sugar from her fat storage. I have to say at this point, I was blank on questions. Wes was very good with his questions. 1st, she will never grow out of this, it won’t get better. It’s a lifelong condition. 2nd, What about sleeping? The doctor assured us that she could go up to 8 hrs at this point without eating as long as she eats right before bed and eats as soon as she wakes up. Our only concern with eating would be if she was to run fever or become ill with nausea or vomiting. During times of illness and fever, our bodies require more energy and use up more sugar. At that point in time we are to bring her to the ER immediately and they will start an IV of sugar water.
Now that you know that, let me say that all the tests up to this point were inconclusive. Lucy had a DNA sequencing test where they found only one mutated gene for MCAD. In order to have MCAD, she would have to have 2 mutated genes. With the one gene, she would just be a carrier. But at the same time, the amount of medium chains found not broken down in her blood, were still high enough to cause alarm. So what is the next step?
Dr Hans Andersson told us that we could repeat the fat profile analysis (the test that showed the increase in medium chain fats) but we might get the same result. Dr Anderson then said the only definitive test would be a skin biopsy. With the piece of skin, the Mayo Clinic will grow some more cells from her donated piece and test the amount of the enzyme in those cells. Wes and I agreed that we would want a definite answer. So Lucy had a small piece, 3mm diameter, of skin taken from her arm. She tolerated the procedure very well. It was done in the exam room.
At the time of the visit, we also spoke with Kea, a Metabolic Nutritionist. She said as of right now, we need to make no changes in her diet. She can stay on the same formula, and keep eating baby foods. Her diet when she was older would have to be that of a “Cardiac Diet;” Which means, low fat, avoiding fried, greasy, heavy fat food. Basically what we eat here! HAHAH! She would not be able to enjoy greasy french fries, pizza, or fried chicken. My family will have to make a lifestyle change, which would be healthy for all of us. We are to keep icing (cake icing) on hand, and some of that gel decorating icing too. I will also check her blood sugar periodically as needed, or if I think she is not feeling well. At this time they want us to treat her as if she has it. Because even though this is easily treated, it can be very fatal as well. Chris, the counselor, told us that there are possibly some cases of SIDS that were actually caused by MCAD. Because the sugar can drop so fast with this disorder if the baby had not eaten recently, the baby would go into a coma and die during their sleep. Catch your breath. It scared us too. Chris, Dr Andersson, and Kea all told said that with infants, because they eat so often, we will most likely not see this happen as long as we make sure she eats. Wes said she should have no problem with that living here. Dr Andersson and Chris both assured us that with early detection, children and people with MCAD can lead normal healthy lives. We did not mention anything up until now, because we didn’t have much information to give. We will keep everyone updated as we receive more information. We are going to Dr Phillip Conner, locally, and he will be made aware of the situation. We love everyone and appreciate your support. If you have any more questions feel free to ask us.
Paige, Wes, and Lucy
I sent this letter to all of my family. I hope this will educate my friends as well.