wolfhirschhorn.org

I’d like to start by saying that after the diagnosis of our daughter 3 weeks ago, this site has been one of the main things keeping me positive and I have all of you to thank for that. Now I’d like to share our story and introduce our little girl. Ellye was born on November 19th 2009 via planned c-section at 37 weeks. Since the 20 week ultrasound, we had gone every week to check her growth because she’d been diagnosed iugr for unknown reasons. She was born 2 kg (4.4 pounds) and 46 cm in length. Apart from her low birth weight and a few small problems, we had no indication of what was to come. She had a cleft soft palate, her tongue tied and her left foot slightly turned in. After meeting with the plastic surgeon, a therapist for her foot and getting her tongue fixed, she was released from the hospital after 11 days. She wasn’t in intensive care but kept in longer because her weight gain was so slow (about 10 grams a day). We realized in the hospital that feeding her was going to be quite a chore. It took about an hour to get her to drink 30 ml of formula. This continued for quite some time. We stressed out so much trying to get her to drink enough because it seemed one feeding ran into the other. Needless to day the weight gain continued to be very slow and we started to become really obsessed with the quantity of milk she drank, writing down how many mls and at what times during the day. We weighed her every week without fail and saw little improvement. She also had reflux problems which didn’t help any. At 3 months she started with physical therapy. We thought it was for her foot in the beginning but later were explained it was because of her low birth weight and low muscle tone and it was routine that she be inserted in an intervention program. We thought well obviously she has low muscle tone because she has problems eating due to the cleft palate and can’t gain weight and has reflux problems. It seemed like a no brainer. We live in Italy (I’m American and my husband’s Italian) so I just assumed things were done differently here so we went along with the therapy and the subsequent neuropsychiatrists. We didn’t think anything was wrong, she was just small and a little delayed. It wasn’t until Ellye was 6 months and had a visit with the plastic surgeon to schedule her surgery that things started getting rough. The surgeon scheduled the surgery when she was going to be 11months old but was very adamant about her weighing 10 kilo (22 pounds) at that time. At 6 months she was only half of that and the weight requirement seemed laughable. So, we started running all kinds of tests on her – blood, urine and feces, ultrasounds seemingly on every part of her body, an eeg, a cardiologist visit and ecg, an mri of her brain, and a study of chromosome 22 and fragile x. Everything was negative except one of the blood tests showed a low white blood cell count. So, we chalked everything up to her being an iugr baby and presumed she would “catch up” in time. In the meantime, she started eating solids and despite eating tons of food, the weight gain slowed even more. We came to the conclusion that she probably had undiagnosed food allergies or celiacs disease and waited for further testing. Everything was going fine until we had a routine visit in February with a neurophyciatrist who explained to us in which I can only explain as her typical tactless manner that we needed to go to Milan and do a thorough genetic study so we can “put a name on what Ellye has”. We were offended and stunned. We thought she had done quite well with the intelligence tests! After talking to our family doctor, we agreed but we didn’t need to go as far as Milan. It turned out that an appointment with a geneticist here in Verona was sufficient. She immediately pinpointed chromosone 4 and ordered a fish study, which came back positive 15 days later. When she called with the news I had already (against her advice) looked up chromosome 4 deletions on the internet and I don’t need to tell anybody on this blog how grim it looks. I made here tell me on the phone because when a geneticist asks you to come in and talk about the results, you already know them. That moment was by far the worst of my life. My whole world collapsed. Our whole world collapsed.

Since that moment, things have slowly started getting better. The doctor who’s following us here is amazing and very optimistic about Ellye. Evidently she’s pretty well off for WHS, which we are thankful for. She hasn’t had any seizures, she’s hardly ever ill, no heart problems, no kidney problems, eats like pig, and apparently is on the “bigger side” of WHS children. She’s on medicine for GERD and is probably intolerant to dairy. She’s 17 month now and 74cm tall and weighs 7.3 kilos. Developmentally she’s behind but she sits very well, rolls over, stands holding onto things (even just one finger), and takes steps with assistance. She doesn’t crawl or pull up to a stand but we’re working on it. She says mamma, me, aqua (water) and other words in her own language. Her grandmother is convinced she says “ciao” but I’ve never heard it. We don’t know how the double language is affecting her. Now we’re committed to learning as much as possible and helping her in every way. We’re going to meet specialists in Milan and then Rome who are going to do further tests on her and we’re going to determine the size of the deletion. And we’re trying to digest it all. It’s still very early. We’ve been told to look at our daughter, not the disease. And for us, she’s the most beautiful thing we’ve ever seen.

Deborah