wolfhirschhorn.org

I have been reading and enjoying the posts on this website for months, and now it is my turn to share our story. Lucy Margaret was born just after Christmas in 2011, weighing in at 4lbs, 13 ounces. My doctor started noticing something wasn’t quite right with my pregnancy around the seven-month mark when I stopped gaining weight and my belly stopped getting bigger. I thought I had just been over doing it between trying to get some home renovations done, working full time, and taking care of my one year old. From that point on, I had weekly ultrasounds; however, other than my baby’s small size, and a smaller than normal air bubble in her stomach, no issues were detected. Early on, there was some discussion with the ultrasound doctor about Down Syndrome, but by the time I was ready to have my baby, we seemed to think everything was fine. I was induced a couple of weeks early and delivered Lucy via unplanned c-section 12 hours later. Other than barely crying, and slightly slow breathing, Lucy seemed to be fine and so she was taken down to the Neo-natal Intensive Care Unit (NICU) for closer monitoring. The following day, a genetic councilor came to my hospital room to discuss the possibility of having Lucy’s blood tested. At the time, I didn’t think much of it, rather I thought they were being cautious because of her unexplained small size. Later that day, while I was visiting Lucy in the NICU, a Geneticist stopped by and mentioned specific testing for a 4p deletion. The doctor noted a few facial characteristics consistent with a 4p deletion. My husband and I were shocked and devastated, but looking back I think we both knew at that point the test would be positive. The doctor’s prediction was confirmed a week later when we got the news that Lucy had an unbalanced translocation between her 4th and 8th chromosomes. The following week was filled with a lot of sadness and a lot of questions. I remember thinking that I would never stop crying, but eventually I did, and then I started dealing with the diagnosis.

After a two week stay in the NICU, Lucy was feeding well and finally reached 5lbs, so we were able to bring her home. Before being released, Lucy had an array of tests (sight, hearing, ECG, EEG, renal ultrasound). Other than mild reflux on one of her kidneys, Lucy’s tests were all normal. In the weeks that followed, my husband and I were tested to see if we had passed on the translocation and were surprised to find out that I have a balanced translocation between chromosomes 4 and 8. Further testing on my parent’s concluded that they were fine, indicating my translocation happened when my mother was pregnant with me.

Since coming home, Lucy has only returned to the hospital once for a Urinary Tract Infection (UTI). Since then, she has been prescribed a daily antibiotic to hopefully stave off future UTIs. She has been seen by Immunology and seems to have a strong immune system. Lucy continues to eat well (expressed breast milk), and appears to have decent tone. She is growing in her own little way, and while Lucy looks small to strangers, at almost 10 pounds she looks like a big girl to us. Last week, Lucy had a follow-up EEG and we met with her Neurologist because I thought she had started having seizures. Her EEG was clear, so at this point we aren’t sure she is having seizures and therefore will not be starting any treatment for them. Lucy has occupational therapy appointments every six weeks, and we are very happy with her progress. She is doing well with her tummy time, and with each passing week she can support her head for longer periods. Lucy has also started kicking her legs a lot more frequently while she is lying on her back. Over the past couple of months, I have tried a number of new classes with Lucy, including infant massage and Kindermusik. I have especially enjoyed meeting parents of other special needs children at a local Not-for-profit group that specializes in Early Intervention.

We are very hopeful about what the future holds for our little Lucy. We have been told by our doctor, that at just under 9Mbs, Lucy’s deletion is considered significant. That being said, Lucy is a fighter, and thus far she has been a strong and healthy little girl.

I am so thankful for Wolfhirschhorn.org. It has been very helpful to read everyone’s stories and see updates on the kids. I particularly love the positive attitudes of all the parents. From the beginning, my husband and I have felt that Lucy was born into the right family. She has a very loving big sister (2 years old) as well as amazing grandparents, aunts, uncles, godparents etc… I look forward to sharing her progress, and continuing to follow the other little angels on this website.
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Rather than re-write my original post, I am adding an update since the last few weeks  have had a few hiccups. Lucy had a nuclear cystogram done last week and we found out that she has severe reflux on both sides of her kidneys. We were pretty disappointed with the news, but at least we know. On the positive side, her medication seems to be working as she hasn’t had any further UTIs. Also, I am pretty sure that she is having seizures now. The first ones came while she had a fever. Her corneas were shaking back and forth for a matter of seconds. Fortunately, during one episode a mother of an 11 year old with WHS (who is very familiar with seizures)was holding her and confirmed my thoughts. It was the first time anyone else was present for a seizure other than me. I believe she has been having more seizures this week although they look different than the last ones (still only seconds long, but include uncontrollable blinking and head jerking). Since the seizures are not affecting her quality of life right now, I am choosing not to medicate her. We will cross that bridge if they worsen in intensity, frequency or duration.