Hello Everyone,
I would like to start off by saying thank you for all of your posts. I’ve been reading them on and off for at least six months now. Sometimes they bring comfort and joy, sometimes knowledge, and I will admit, many times I have wept uncontrollably for you and your children (and maybe for me and my own child in some respect). Today I decided that I would write a post to share with all of you, and maybe with someone new combing through this site trying to find answers.
My miracle, Abigail Lily, was born on June 13, 2014 at a whopping 4lbs 6oz. During my pregnancy she was diagnosed with a rare genetic disorder called Ring Chromosome 4. We came to know that there were only 17 documented cases in total, which gave us little to go on except that she would likely not survive. I spent countless hours pouring over the internet trying to find out everything I could about the 4th chromosome, because if she lived I wanted to be prepared for whatever the future might hold. It was during those early days of research that I found this site. Though at that time, my daughter had not been diagnosed with WHS, I knew that if she survived she would likely have the syndrome.
Her birth, though a little late, went really quickly. I was very excited to meet her, and at the same time scared that I wouldn’t have time with her. (They told me at every appointment that she probably wouldn’t make it.) I’ll never forget when they handed her to me, she was so blue and she didn’t make a sound. Every doctor and nurse was silent. And then one nurse came up and helped me pat Lily’s back until she let out the softest little squeak. It was as if the entire room had been holding its breath, because everyone released at one time. A nurse told me later that they all went into the next room and cried. (They could have just stayed and cried with me!) I was touched to have such a wonderful staff there for her birth.
We got to take her home after only a day in the hospital. She was small, but she was and is a little fighter. She was eating about 5ml at a time, breathing on her own, and doing normal baby things. She had baby tremors and her temperature regulation wasn’t perfect, but she was perfect to me. I was so thankful to God and to everyone for all of their prayers, because nothing else explains our ability to walk out of that hospital with our daughter, alive and doing FAR better than anyone expected.
Fast forward several weeks and one microarray later and we had the diagnosis of WHS for little Lily. After visiting the geneticist six weeks ago (seems like forever has passed) we have learned that the ring chromosome 4 is still the diagnosis, and that Lily has all kinds of deletions on the small arm. She is missing 16.3, 16.2, 16.1, and 35.2. So, we know that means she has full expression of WHS (and a whole lotta other stuff). All they could really tell us was the information we already knew about WHS and the 4th chromosome. It turns out, the other deletions haven’t been studied enough to have information about possible outcomes. The geneticist was impressed at how much we knew and said she had little to offer except to attempt to answer our questions and give us a list of recommended specialists.
Abigail will be 4 months old in just a few days. I can hardly believe it. I feel so blessed for every moment with her. So far she feeds well and she’s very strong. She started having seizures a few weeks ago. While I prayed not to have to deal with seizures, at least not until later, I feel I’ve handled it well. Right now they are small and only last about 5 seconds a piece, though she has several every day. She has had a few longer seizures, but thankfully the longest was about 20 seconds and no more. I thought that I would be a complete mess when the seizures started, but it turns out that I just felt like it was expected. I knew it was likely coming, and though earlier than I thought, it wasn’t the kind of shock I thought I would have. I’m not happy about it by any means, just more at peace with it because I already knew it would happen.
This week is appointment week. Abigail has hearing loss, so she and I met with the Audiologist for the 3rd time and finally the ENT. It turns out her ears are still too small to look into. We’ll visit again in three months. Yesterday, we visited her pediatrician who said that she IS growing (7lbs, 7.5oz). However, she is dropping off a little in weight according to the chart and her head hasn’t grown at all. Today we met with the early on team to have Abigail evaluated. I’m so glad I decided to do early on now instead of waiting. I was already aware of the things Abigail needed to work on and I have been working with her, but the PT gave me so many things I can do. I am SO excited to have little exercises and a more direct way to work with Lily. She doesn’t open her hands all the way yet, and she prefers her head to one side and rarely centers or turns to the other side. I feel like my knowledge base as far as helping Lily sky rocketed. On Friday we will see the nephrologist, who will tell us about Abigail’s one and only kidney, which is a horseshoe kidney. Then next week, the neurologist.
Now to talk about Lily, the baby, and not the diagnosis and prognosis… Lily is a happy little girl. She loves it when I sing to her. She enjoys laying on her back and stretching out. If she has been held too long, or in one position too long, she’s not afraid to let me know she’s ready for a change. She loves looking at the ceiling fan, and of course, all lights. She’s not a fan of tummy time, but she’s good at it anyway! She has recently started tracking, and she babbles with the cutest little sounds! She loves her big sister (who is 9) and the two of them get along well. (My oldest is such a big help when I need an extra set of hands) Lily wants to live and I see that every day. She is determined to write her own story. And no matter how long or short her story is, I’m glad to know that so far it has been filled with love and smiles.
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What an amazing post, and what a strong momma you are! When I was in your shoes, I couldn’t read a lot of things right away. I was afraid what I might learn. The way that you started digging in and getting informed, from the start, bodes so very, very well for your gorgeous girl.
The part about your delivery was especially touching. My Elsa was 4 lbs 15 ounces full term. I remember those tiny feeds, an ounce here, an ounce there, looking for a rhyme or reason as to why she took a bottle and why she didn’t. Was it hot enough? Was the flow of the nipple too fast, too slow? Feeding was so incredibly hard. We ended up going the G-tube route, but it was a very tough decision.
Appointment days and weeks are so hard, especially in the first year. You just have to muscle through. You are approaching everything with such courage.
Cannot wait to hear more about Abigail Lily as she grows. Please continue to use the site as a resource and sounding board. We all can learn so much from each other! Especially from your resolve.
Dear sweet mama,
I have a 26 year old daughter with WHS. Back in those days I had no idea there would be a problem with my unborn baby. The first I saw her was this strange looking little girl, skinny, small and her eyes rolled up into her head, so all I could see were the whites of her eyes. After having 3 previous normal babies this was quite a shock. We spent the next few years at doctors appts constantly. Eye problems, no response to sound, and slept all the time. We had a chromosome test done, but that came back normal. (The tests at that time were very primitive.) Not until she was 14 did we have another test which was positive for WHS.
You mentioned the small head, and I wanted to share my daughter also had that, but she is small all over! She is only 4 ft tall, and weighs 80 pounds today. She had seizures till age 2, but they went away. Today she is walking, no speech but lots of very loud sounds, is pretty healthy, is not potty trained, but she can communicate in her own way. She goes to a wonderful day program every day with other special needs adults from 18-108. She is like their baby! She does have anxiety when we go out to stores etc and hits me and gets wild, so I don’t take her much anymore. She does love to walk so we walk every day. She gets wild when her older brothers and sister and grandbabies and any friends come to the house, so we have a low dose anti anxiety med we give her before people come over. This is our life, which God has given us. She is our great joy and life teacher, and our hardest trial. I pray you will find the answers and hope you need.
This is Lu again. Forgot to say, Natalie sleeps with her eyes wide open, always has, but she appears to have good eyesight, and has become a good eater.
Thank you so much, Anitra! I guess I just try to be realistic about things. Knowledge is power, whether it’s something I want to know or not. I could shy away because sometimes it’s scary or it hurts to read, but that won’t do anything for Abigail. Knowing what I know, I can talk to the doctors in an educated way, because not everyone is familiar with her syndromes. I feel empowered to make decisions that will give little Lily the best possible outcomes, so it’s worth the difficult feelings as I read and research. I want to maximize her life, and from reading the posts of other parents here, I think they feel the same about that with their own children. I’ve read a lot about your little Elsa, what a blessing you have! And thank you, from the bottom of my heart, for all you’ve shared that has and will help me with my little blessing.
Lu, Thank you for sharing this with me. I’m thankful every day to have all the information available to me that I do. I can’t imagine what things must have been like for you as your daughter developed. It must have been in some way similar to how I feel about Ring Chromosome 4, but at least I have a name. 14 years of not knowing is a long time. Things are so different now as far as knowledge of chromosome abnormalities and assisting in development. I’ll pray for you and your Natalie. I can imagine that you’re one tough cookie.
You will be a light to our community, so glad to have you joining us! Knowledge is power, agreed, and maximizing their opportunities is what it is all about. I am one who is prone to spinning and busyness and over-committing in my life. Elsa slows me down (in the best way!) and makes me focus on what is right in front of me. I asked a lot of questions at the start of my journey. I think we all do. But almost 3 years later, it’s hard to believe that I fixated so much on “why.” I don’t really think about that at all anymore. It’s more about doing right by my beautiful girl, who is much too sweet, much too forgiving, and much too loving. She deserves only the best.
Lu, it is great to hear about your daughter! Would love to see what she’s up to. As a parent with a 33 month old with WHS (Elsa), we do wonder what the future will look like. From your vantage point, I can envision specific challenges and joys. Specificity brings such comfort. Otherwise, you just imagine what could or couldn’t be. Thanks so much for your post!
Thank you for sharing your heart and girl with us. We spent 6 years alone living, walking, crawling (some days)raising our daughter without a community, because she didn’t have a diagnosis. When we received her diagnosis we came to this website and spent hours, days, months… reading, crying, embracing the stories and families. Thank you for sharing your story. The difference an online community can make when our door steps are so far apart is a essential in raising our children and drawing courage.(It has been for me!) Thanks so much for sharing your story. My daughter is turning 9 soon and I’m in awe at all she has persevered through. She is a soul of unending generosity and our days are full of unexpected joys. We look forward to hearing more as your daughter Lily writes her story. Blessings!
Janet, I am so sorry for taking so long to respond to you! Thank you for your kind message and support! It IS so nice to have a community. And I feel very blessed to live in the day and age that I do, to have a diagnosis early, and to have the knowledge I have thanks to this community. I can’t imagine what those first six years were like for you, but I’m glad that you’re part of my WHS family. Happy Thanksgiving to you and yours.
Hi. I am mother to Nathaniel. He is going on 4 years old 1/8/15. He is approximately 30lbs and is about 36″. Still non-verbal, but very noisy 🙂 He has a history of epilepsy and is on 2 anti-convolsive meds plus we just used his rectal valume a few months ago. I think it’s awesome that you are willing to look at things realisticly. My husband was in denial for the longest time and I was just like you…researching everything and preparing myself mentaly for the worse at first because until I found this website, the prognosis seemed gloomy. I had the information I needed and was more informed than the doctors we saw. Things will do nothing but get better…you’ll see. Best of luck to you and your family.