Umm… I am sorry, could you spell that for me please?
We said this for the first time on November 1st, 2007, about a week and a half after my daughter Dylan was born at just under 31 weeks at a whopping 2 lbs 8 ounces. We were asking the nurse because when we asked the doctor a few days prior he said, “It’s just a big word that’s used to describe a lot of things.” (Yeah, I can’t believe we took that as an answer either, but I am not sure we were ready anyway, a blessing in disguise?) Subsequently, we have been asked to spell ‘it’ approximately a hundred million times.
The answer: Holoprosencephaly.
Wait! Don’t Google, don’t ever Google…. Not yet anyway. Let me go first. Holoprosencephaly (HPE for short) is a brain malformation where the brain fails to split into four hemispheres. Usually there is no midline separation between hemispheres. It happens within the first weeks of gestation (just as you are finding out you are pregnant) and can be very mild to severe and incompatible with life. There are certain midline facial features associated with it, eyes are closely set, nose not formed properly, cleft lip and pallet. Completely adorable (if I do say so myself…).
HPE is often diagnosed in utero; there is an online forum and new mothers come in all the time with so many questions. The main thing you hear the ‘been there done that’ parents say, over and over, is that no two kids with HPE are alike. They all write their own books. The brain is such an incredible organ and it can compensate for what is different or missing. For example, only a very small percentage of children with HPE walk. Dylan is one of them. Some talk, some develop near ‘typical’. When we saw the geneticist, we were told a story of an adult who was in medical school who didn’t know he had it until they had a child with it and got testing done. You just never know.
A few statistics for you. Caution: medical jargon ahead. According to the Carter Centers for Brain Research in Holoprosencephaly, “It is estimated that HPE affects 1 in 5,000-10,000 live births. Since many pregnancies with a fetus diagnosed with HPE end in miscarriage, the frequency of HPE among all pregnancies may be as high as 1 in 200-250. Current studies indicate that only 3% of fetuses with HPE survive to delivery and the vast majority of these infants do not survive past the first sixth months of life.” Most parents are advised to terminate the pregnancy at the time of in-utero diagnosis.
She is so cute and in many ways my easiest child! Oh sure, we had a rough few years there, but now? It’s great! She doesn’t talk back! She laughs, she sings, she plays. She is really delightful and so fun to play with. She is my ever-baby, developmentally about 12 months. At six, she is about the size of a four year old.
Though HPE was diagnosed through MRI after Dylan was born, we found through additional testing that Dylan has a chromosome abnormality (mega-deletion, 7q) that is the source of all of her diagnoses. It was not passed from us, it’s an anomaly. She is missing the Sonic the Hedgehog Gene (SHH). Yes, it’s named after that Sonic – which geneticists find no humor in. As far as genes go, the more I know about the whole process, the more I am surprised that everything ever turns out okay. True miracles, children, though of course we think she is a miracle in her own right.
Because of Dylan, I have been introduced to so many people online through the Holoprosencephaly family support groups and the non-profit organization Families for HoPE. I have ‘pen pals’ across the country and I have even met a few children with HPE that live near me. We celebrate small milestones together and we mourn together when we lose a child (which is far too frequently). Even beyond that, the online support community for special needs families is such a great source of information and support. It’s always nice to know that you are not alone.
We are truly blessed to have Dylan in our lives and I feel like I am able to learn something and celebrate something new every day. She is really a sweetheart and I love that my family can learn about appreciating differences and about service every day in our own home. All of the children with HPE hold such a special place in my heart and I love to watch all of the new things they do as they grow. I am so glad that I have an opportunity to share a small piece of her story with you.
Special needs parents tend to get into this list thing, and I am a list gal… But there are so many diagnosis! I will go ahead and include Dylan’s other diagnosis here just in case anyone has any questions and you can comment. Our subsequent diagnosis relating to the chromosome abnormality: Currarino Triad (sacral agenesis, sacral dysgenesis, tethered spinal cord), epilepsy (Infantile Spasms, Myoclonic Spasms), pyriform aperture stenosis (the nose thing, repaired), microcephaly (trigonocephaly – repaired with cranioplasty), growth hormone deficiency (and other pituitary issues), ASD (corrected), neurogenic bowel and bladder, 100% tube fed, and she has funny teeth…er, tooth with a single central incisor. Even though she was a preemie, all of her diagnosis are related to her genetics.
*Friday posts will generally be guest posts and are intended to spread awareness and education. We want to highlight special diagnosis, medical conditions, and medical miracles. For this first Friday, your regularly scheduled blogger gets to be the “guest”. If you have a story to share, please let us know! We would love to hear from you!