wolfhirschhorn.org

I have a 3 month old daughter, and her name is Isabella. We chose that name because of what it meant… it means “God’s promise.”

I had a fairly uncomplicated and healthy pregnancy… up until i had my 36 week routine ultrasound. First we were told that my daughter had atrial septum defect, so we had to undergo a more specialized level 2 ultrasound. During that ultrasound we found out that she has cysts in her head, and so we had to drive up to a more specialized hospital so they can further check her condition in utero via fetal MRI.  In the next 2 weeks after we were alerted of the existence of ASD, more news about my duaghter’s condition came our way. To add on to the ASD, and  cysts (interhemispheric ventricular cyst, and sub arachnoid cyst) in her brain, we were told that she has partial agenesis of the corpus callosum (the part in the brain responsible in connecting communication between the right and left hemispheres), an enlarged cisterna magna (fluid in the brain), and a cyst by her gall bladder. There were also major concers about her size. All the while i thought I was managing healthy weight gain because i made sure to eat healthy with this pregnancy, however, my slow and steady, and what i thought healthily managed weight gain, was in fact intra uterine growth restriction (IUGR). We argued that I have a history of having small babies and that both my husband and I were small in stature. They checked if something was wrong with my placental function to see if what caused the growth retardation was a lack of receiving nutrients from me, but, nothing was wrong with my placenta. The doctors counter argued that perhaps my daughter was “abnormally” small because of two things, 1st, I have small babies and we are small people, and 2nd, something might be wrong with the baby that’s keeping her from gaining the weight that she needs in utero. It could’ve been also a combination of those two factors.

The doctors then decided to schedule me for a c section so that they can check on the baby. So on my 38th (and 4 days) week of pregnancy, Isabella was brought into the world.

Isabella weighed 4 lbs 3 oz at birth. Her initial (1 minute) apgar score was 4, and her 5 minute apgar score was 8. She had problems breathing on her own that she had to be intubated, but eventually she managed to breathe without help. Upon birth, doctors suspected that there were some anomalies in her physical features, a resident commented that her eyes seemed wide apart, so a consult with genetics and a chromosome check was ordered. They also found out that she has a cleft palate. She had to stay at the NICU for 17 days, and during her stay she was jaundiced, and there were concerns about her blood work. Several bloodtests later they found out that she has bilateral renal hypoplasia (small kidneys), but this condition can be managed by giving her a daily dose of sodium bicarbonate. On the day that we were told that she was going home, a yellow card taped on her bed side indicated that she failed the newborn hearing test for both ears. She has hearing loss for both ears, but to this date, the doctors do not know yet for sure the degree of loss. A scheduled ABR and putting tubes in her ears to drain the fluid is underway. 

2 days after we brought her home (my birthday), I received a call from the genetics doctor telling me that the results of the chromosome testing are back. The result? My daughter has a partial deletion on the P arm of her 4th chromosome, a condition called 4P minus… a diagnosis called Wolf Hirschorn Syndrome.

Upon diagnosis, more doctors consults were ordered to rule out or check other conditions associated with WHS. An immunology, opthalmology, EEG, cardiology, and gastroenterology doctor visit was added to the audiology, neurolgy, nephrology, and cranio facial team visits. Just recently she was discovered to have acid reflux, and kidney reflux.

It is an overwhelmingly interesting journey so far… the last 3 months was riddled with doctors appointments, frequent blood work, feeding issues, and an obsession about her weight gain. She is still behind on the growth curve, and already has developmental delays ( inconsistent and brief eye contact, poor visual tracking, motor development delays, no cooing, inconsistent social smile, etc.)…. and we are coming to terms with humbly accepting the reality that it will stay that way. She has been determined eligible to receive early start services (infant program), and she is getting regular home visits from the infant specialist, two OTs (one for development another for feeding), and a physical therapist. We hope that through early intervention services and working as a team with the service providers the complications associated with the syndrome may  be alleviated… to help our daughter develop her fullest potential. It is a lot of work, but nonetheless, a challenge that we are willing to face.

We have our fair share of really challenging and dark days and days wherein we find ourselves looking at our daughter and saying, “She is our little gift from heaven.” We trust that God is up to something good and that our life will be enriched by having our daughter Isabella …. she is god’s little promise that we are blessed.

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Currently Isabella seems to have better head control,  can hold her head up (about 45 degrees) briefly when placed on her belly, can roll (unintentionally) from side to her back, and from her tummy to her side. She now weighs 7lbs and measures 19 inches. We can’t wait to dress her up in her nice newborn sized clothes.

 To read more on our journey with Isabella, you may visit this blogsite www.myangelisabella.blogspot.com