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.

 

8 Responses to Introducing Lucy

  1. Cheryl says:

    9 MB deletion, my son (2 months old, but 1 month preemie) has a 3.29 MB deletion. I’m trying to figure out how affected he will be but no one can seem to give me answers! Any insight? He’s already up to 7 lbs 6 oz is feeding well, already holds his head up and can turn himself onto his tummy.

  2. Heath13 says:

    That all sounds very positive. I wish I could give you some insight, but I don’t think any of us really have any answers (doctors included). However, I am sure having a small deletion must be a good thing. I feel like we have to do everything we can with our children and hope for the best. For example, I am currently trying to teach myself some basic sign language so that I can help Lucy communicate as she gets older. I certainly hope she will speak and I have her on a waiting list for speech therapy, but if she can’t, I want to be prepared. I definitely think the uncertainty about the future is one of the most challenging aspects of WHS.

    As an aside, I am still trying to figure out how to post pictures. Once I can manage it, I will post a few.

  3. Laurie says:

    Welcome to our family! I know that the diagnosis is a lot to take in, and there is a lot of fear in the “not knowing.” We all understand that emotion, and we all wish there were concrete answers about what to expect. As far as deletion size, it has not been determined to be the sole determiner as to a child’s development. I forget which mother said it first, but while we know that the short arm of the 4th (and in our children’s case, the 8th) chromosomes are affected, there are still 44 other chromosomes…and individual genes within those chromosomes…that will make our children as individual as their “typical” peers. Hence, it is an unanswerable question~ our children, regardless of their deletion size, will grow and develop on their own timeline; the waiting is hard, but we have no other choice. From what you have described, Lucy is growing well~ at 10lbs, that is impressive weight gain and definitely something to celebrate. In the meantime, you are in good company here; you and your daughter (and your family) will be well-supported and loved by everyone in the community…it is just the way we are! xo

  4. Cheryl says:

    Do you have facebook? I’d love to see your little miracle. You can find me by my name, Cheryl Richter or probably easier search by my email address morexthanxwords@aol.com my FB is full of pics of my Liam <3 thank you for responding, reading a lot of these stories has been a little bit scary, but even tho its a little scary, the not knowing is even worse.

  5. Latosha says:

    Hi, your daugher is beautiful and welcome to the WHS community.
    I just wanted to stop by and say I think parents read too much into deletion size and I know the syndrome is so unknown and different for each family that the size of the deletion is the only thing we can really count on to try to figure out where our children stand. Most parents here have really young children and the unknown is so scary but as a parent of a 12 yr old with WHS lets just say you will never know and believe me..please…these children will surprise you. I dont think any two children are the same even with the same deletion size but I am very happy to read your story and glad this site gives you joy and positive insight. I wasnt so lucky when my daughter was born and she was not diagnosed until 5 yrs old.
    From my point of view and based on my own personal experience my daughter seems to understand and know how to accomplish many things but there is something in her or about her that doesnt care about standard milestones and she reaches them when she is ready…go figure, anyways just to put it out there her deletion size is 4.9-6.3 Mb and you can see tons of pics of her at amariahtreasure.blogspot.com.
    Good luck 🙂

  6. Heather Jones says:

    I am a friend of Lucy’s Great aunt and have heard about how well she is doing and what a precious little one she is. I loved your statement that she was born into the right family. Both girls are lovely.

  7. Letty says:

    I love your story! And the pictures, adorable! Welcome to the WHS family. I know there are tons of unanswered questions, but this website will difinitly help answer those that even the doctors can’t. It’s given me hope and strength. Best of luck to your precious baby and three rest of your family.

  8. Anitra says:

    I agree, our babies could be twins for sure! Even such close birthdays and similar stories. Elsa and Lucy, two blue eyed beauties! :o) You seem to have found clothes that fit your Lucy very well – would love any recommendations you have. Not a lot of slim fit baby cuts out there! We’ve worn a lot of dresses this summer. But I’m wondering what we’ll do when things cool down. Have you guys considered a feeding tube? We’re constantly on the fence.

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