Olivia’s Story
I found this website the day I received the diagnosis of my daughter-that was 5 months ago. Reading the stories of other affected children and their families has been very helpful and therapeutic. Although I still struggle with sorrow and grief for the loss of a “normal” child, I am feeling more at peace now. I thought it was time to tell Olivia’s story to others.
Olivia was delivered via C-section at 37 weeks weighing 4 lbs, 9 oz. due to breech presentation, intrauterine growth restriction, a non-reactive stress test, and low amniotic fluid. Her Apgars were 6 and 8. She was lethargic, not interested in feeding, could not maintain her temperature, and developed low blood sugar. Within hours, she was transferred to the special care nursery and remained there for 32 days for feeding issues. We did not know about her diagnosis because I had turned down an amniocentesis. Developmentally, the neonatologist said she seemed more like a 33 week infant than 37 weeks. Since I had an ultrasound at 12 weeks gestation, I knew that my dates were accurate. Nobody suggested anything was wrong with her and she looked “normal” so I thought that she would eventually catch up.
She continued to have slow weight gain and feeding issues even after discharge. My maternity leave was filled with appointments. It started with weight checks at the pediatrician followed by an ultrasound of her hips to screen for dysplasia. She did have mild right hip dysplasia and wore a Pavlik harness for 3 months. The dysplasia has since resolved.
By the time Olivia was in her 4th month, was not meeting her developmental milestones. She did not reach, roll, or track objects with her eyes. Her pediatrician recommended an eye exam. The ophthalmologist said her eyes were structurally normal and there was no obvious cause for her vision problems. She was said to have Delayed Visual Maturation. At 4 ½ months, Olivia started to display brief episodes of rapid eye blinking during feedings or when falling asleep. An EEG showed abnormal brain waves consistent with focal seizures. The neurologist suspected Olivia might be progressing into infantile spasms.
The neurologist started to order tests, more EEGs, an MRI, a metabolic panel, and finally, genetic testing. On December 30th, 2010, he called to give us the diagnosis. I had never heard of Wolf-Hirschhorn Syndrome. I asked him how persons with this syndrome were affected. When he told me, I immediately broke down. I was not expecting her to have something so horrible. She was only 7 months old. I had held out hope that she would eventually be “normal”, but my hope was shattered.
Unfortunately, her seizures are not well controlled. She was put on Zonisamide first, which did not help very much. She was started on Depakote after the diagnosis with some improvement but she metabolizes it so quickly she has yet to maintain a consistent therapeutic blood level. She is now trying Topamax in addition to the Depakote and if this is not successful, the next step is the Ketogenic diet.
In January of this year, Olivia stopped gaining weight. She was 8 months and 14 lb, 8 oz. and drinking about 24 oz. of formula a day. Her seizure medications kept increasing and Olivia started having more problems with vomiting. I had been suspicious of GERD since Olivia was 2 months old but she did not have all the classic signs and symptoms so the pediatrician was reluctant to start medication. An upper GI showed normal anatomy but decreased esophageal motility. A swallow study showed micro-aspirations on thin liquids and a delayed swallow reflex.
By mid-February, Olivia’s oral intake declined to about 12-14 oz a day at best and she regularly vomited solid food. Feedings became stressful. She developed a mild upper respiratory and her first ear infection. The infections resolved but Olivia started to lose weight anyway. After two months of maintaining her weight, she dropped down to 14 lb 1 oz. She was hospitalized early March for Failure-to-Thrive and had an NG tube placed. With an NG tube, she gained 4 lbs in 2 months.
I hoped that after she took in some more calories and was discontinued off the Zonisamide (which decreases appetite) she would be able to drink larger volumes from a bottle but the opposite has happened. She takes in very little if anything by mouth. We have stopped solid food because of her swallowing difficulty and vomiting. Olivia had surgery this week to have a gastrotomy tube placed.
Olivia is 12 months old and her current weight is 18lb, 13 oz and she is 26.5 inches long. She receives weekly PT and monthly feeding and vision therapy. She can smile, coo and squeal. She can sit with support and hold her head steady. She kicks and bats at dangling toys. She loves to chew on her fingers and her vision seem to be improving.
We live in the Seattle area and I would love to hear from anybody else who lives in this region.
Jennifer
Olivia
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Jennifer,
Reading your story… it was like walking back in time. The only difference is we have had over a year to live with the diagnosis as opposed to 5 months. Alexander just turned 1 year old and he does not yet weigh 10 lbs – I think 14 sounds huge 🙂 Bless you and Olivia. She is doing things = and will continue to do things.. just wait and see. We don’t live in Seattle, but we do understand your pain. When you were describing the news, I could picture myself hearing it too. I’m glad you are here. Please let us know any way we can support you. Kristen and Alexander
Welcome to the group. So many pieces of your journey have been shared by all of us. My Riley is 26 months old and doing great. She too has a g-tube, she got it at 10 months when she was weighing 11 lbs. She is now up to 20 lbs and still gaining slow. She is so active now, cruising, crawling, climbing stairs, walking with a walker, that she is burning more calories than before. Stay positive with Olivia, she is making good progress. I know she will impress you in so many ways! We live in SC currently, opposite coast. I know there are a few other families in your area though.
Jennifer – I do live in the Seattle area and look forward to meeting you and introducing our little girls to each other (my daughter is 18 months old)! I’m reluctant to post my email address online… will see if I can figure out another way to connect.
Hi Jennifer! Olivia is beautiful! And thank you for sharing her story. Emma is 4 and we live in Oregon, near Portland. So not really TOO far away. Would love to meet you guys! Feel free to email me at shanichica@hotmail.com
Emma also has a feeding tube and gets all her nutrition that way, but we are working with her on eating orally. She’s very interested right now (probably since she’s got 3 sibling!), but she doesn’t seem to understand that she needs to chew and swallow after taking a bite of something! She’s walking, doing some sign language and is super social!
While reading you story I feel blessed at least a little that I knew Arin’s diagnosis before birth. Arin is just 2 months old and currently weighing in at 5lbs 3oz. While I am on the opposite coast please let me know if I can help in any way. There are quite of few of us WHS parents on facebook if you have that and I/we would love to chat with you. My name is Brianna Horney-Hauck on there in Newark, Delaware. Welcome to the group.
Welcome Jennifer and Olivia 🙂 I’m sure we can all relate to the feelings of having your hopes shattered by the whs diagnosis, I know mine were. My daughter Sabrina was diagnosed at 14 months. We were assured that the genetic testing was just to “tick the box” when we were trying to figure out why feeding and development was so slow. Anyway, I have come to terms with things now and am so thankful for my little princess even with all the trouble she causes…. Have just spent the last 2 nights in hospital! I live in new Zealand so am miles away from everyone but you’re welcome to find me on Facebook if you like. My name is Leonie French 🙂 I look forward to more updates on your gorgeous girl.
Welcome to our WHS “family.” Reading your story, I could feel and relate to so much of it– especially the feelings of pain and the emotional breakdown at hearing the diagnosis. I, too, wasn’t prepared for such a diagnosis because I DID have an amniocentesis. It turns out that the geneticist misread it, but needless to say, I had a false sense of reassurance about her health and development throughout my pregnancy. I was beyond happy to be having the baby girl of my dreams (my older daughter has Autism, so I was grateful for this second chance at a life of dance recitals, dollhouses, and princess stories). Not having the diagnosis prenatally has been emotionally traumatic…at least for me. 16 months later, I can say that it is getting better, but it still is not easier (if that makes any sense). My daughter just had a g-tube placed a couple of weeks ago; it turns out that she was diagnosed with the same swallowing and aspiration issues as Olivia. Hence, we are forbidden to feed her thin liquids and she must receive the majority of her calories (right now, all) through her g-tube. It has been such a life-saver, and I wish I had done it sooner. If I had known that she was aspirating her bottle feeds, I would have had it placed at birth. At 16 months, she weighed 11lbs, 8 oz. Today, she weighed in at 13 lbs…life is looking up. I wish you all the best. I will not lie and tell you that it will be an easy journey; it won’t. And on those days when you feel like breaking down and are angry or sad, know that you are not alone. If you ever wish to talk, you can reach out to me at laurie1878@yahoo.com. I look forward to getting to know you and your precious Olivia better! xo
Jennifer,
Thank you for sharing your story. Olivia is such a beautiful little girl. I admire you for your strength and courage and applaud you for being such an amazing mother. My heart and prayers go out to you and your family and will remain so. I love you my friend. – Katie
Hi, Jennifer. I am in Colorado, not too close, but my daughter, Savannah, has had almost the same progression. As painful as it is, and despite the fact that, at 6, she still eats almost nothing orally, she is happy, healthy, walks, runs, laughs, and even talks. She is also learning to ride a shateboard, thanks to her older brother. There is such a wide range of outcomes, and Olivia sounds like, all things considered, she is doing amazing. Don’t let the speed bumps get you down. I am also on Facebook if you ever need an ear, or want to compare notes. God bless you both, and the rest of your friends and family, as well!
She is so precious. I look forward to reading more about her.