We knew there was something different about Thomas the day he was born. The amount of doctors and specialists we saw during our hospital stay left us wondering and worrying. Before we left the hospital we were told that Thomas had no visual response according to testing done by a NICU developmental specialist.
When our pediatrician came to examine Thomas in the hospital she noted that he had no red eye reflex. When you shine a light into the eye it should bounce off of the back of the eye creating the “red eye” you see in photographs. It’s a big warning sign when there is no red light reflex. This could have been something as simple as a cataract, or it could have been because of a tumor called a retinoblastoma. We were sent to Dr. Leann Lope, a Pediatric Ophthalmologist at the Children’s Hospital of Pittsburgh for an evaluation as soon as I was discharged from the hospital after giving birth to Tom. Dr. Lope was very caring with Thomas and with us, two very new and scared parents. She referred us to a retinal specialist after performing an ultrasound of Tom’s eyes and examining them in her office. Her prognosis was grim and I could tell it was hard for her to tell us her findings.
Persistent Fetal Vasculature Syndrome In Tom’s case, his visual impairment is due to a condition called Persistent Fetal Vasculature Syndrome (PFVS). You can read a very basic explanation of PFVS by clicking here. During fetal development, the eye has a system of vessels (vasculature) in the vitreous that nourish the developing eye. The vitreous is a thick gel that fills and gives shape to the center of the eye. This vasculature should dissolve away at a certain point in normal eye development, leaving a clear vitreous. In babies with PFVS, this vascular system “persists,” leaving a cloudy vitreous.
This condition used to be called Persistent Hyperplastic Primary Vitreous (PHPV). I am surprised by how often I see the old term PHPV used by parents on the internet or in parent groups. I imagine that is the diagnosis they have been given. It would make me nervous to have my son’s surgeons or ophthalmologists using this old term. I understand that they may have learned it one way in medical school and want to stick with that, but I want Tom’s medical team to be up on the latest information.
PFVS is rare and most retinal surgeons don’t specialize in pediatric retinal surgery. If your child has PFVS I suggest you do some research on both your surgeons and your options. Thomas was evaluated in the office of Dr. Olsen, a retinal surgeon in Pittsburgh. But because Tom’s eyes were so severe he suggested we go see Dr. Capone or Dr. Trese, at Beaumont Hospital in Royal Oak Michigan. I am forever grateful that he sent us to Dr. Capone because he is one of the very few experts in PFVS.
Tom has a very severe case of bilateral (both eyes) PFVS that has left his eyes with lots of scaring inside the vitreous. The abnormal vascular tissue pulled on the retina (light sensitive tissue on the back of the eye) and caused it to partially detach in his right eye and almost fully detach in the left eye. The detached retinas and cloudy or scarred vitreous caused Thomas to be completely blind at birth. Today Thomas has light perception after five vitrectomy surgeries and his eyes have grown. It is possible for eyes with PFVS to atrophy and need to be removed. I am very happy that Tom’s eyes are growing and seem stable.
The lenses in Tom’s eyes were also abnormal and had to be removed. He wears special soft contact lenses(Silsoft Aphakic Lenses) until he can have permanent lenses implanted. Because these lenses act as a prosthesis they are covered by insurance. (UPDATE: Not Covered by Insurance Anymore! We now have to pay $250 per lens for Tom’s contacts because insurance companies were not paying and the doctor’s office could not support this cost. This mean that patients with Medicaid or secondary Medicaid like us end up footing the bill for these medically necessary contact lenses. I don’t understand the why insurance companies will pay for something stupid with no complaint but then refuse something so absolutely essential.) In 2012, Thomas was transferred to the care of Dr. K. Nischal, a pioneer in ophthalmic surgery, who is now the chief of the Division of Pediatric Ophthalmology at Children’s Hospital of Pittsburgh of UPMC. I was nervous to switch doctors because we loved the care we got from Dr. Lope, but we have been more than pleased with Dr. Niscal. He has been extremely interested in Thomas (all doctors are because Thomas is unique) and he has been very kind to Tommy which is important to me.
Microphthalmia and Glaucoma Tom’s left eye is also smaller than normal; this is called microphthalmia. In June of 2010, an EUA (Evaluation Under Anesthesia) determined that Thomas had high intraocular pressure or Glaucoma in both eyes. Glaucoma commonly occurs with other eye diseases and we were told it might develop due to the intensity of the surgeries he had on his eyes. However, we had no idea how difficult glaucoma can be to manage. Thomas has 3 surgeries for his glaucoma and has two drainage implants in his right eye. The pressure in his left eye can be managed with just eye drops. As you can see from this post-operative photo, Tom is one tough cookie.
The eye must regulate the flow of fluid inside of itself to stay healthy. Sometimes the eye cannot manage the flow of fluids and they build up in the eye, pressing on the optic nerve and causing damage. This is glaucoma and it can cause pain, light sensitivity, reduced fields of vision and blindness. To treat glaucoma you must reduce the pressure in the eye, either by medicated eye drops or surgery.
It is an unfortunate reality that I struggle to get the needed eye drops from our insurance company. They sometimes refuse to renew our prescriptions because they now think that a bottle with a 30-day-supply should now last 45 days. Have you ever given eye drops to a toddler? Enough said.
When, Why and What now? PFVS is rare and congenital (present at birth). Glaucoma is common and can be congenital or it can develop at any time. For more information about Persistent Fetal Vasculature Syndrome please look at ROPARD’s website. ROPARD is the Association for Retinopathy of Prematurity and Related Diseases. The ROPARD site is full of information and has an extensive collection of resources on their Web Links page. It is unknown why Thomas developed these conditions. I had a normal and healthy pregnancy with no risk factors and no family history of eye disease. All genetic testing has come back normal. These conditions have left Thomas blind with light perception in both eyes. We won’t really know for sure what type of information he gets from his eyes until he can talk well enough to describe what he sees. The fact that he has light perception in both eyes is a miracle considering the severity of his eye conditions. PFVS can be mild but Tom’s was quite severe. We are very lucky. Thomas is doing quite well and we couldn’t be more proud of our little guy. People who are completely blind can lead full and interesting lives if they are taught from day one that they can! Then you have to give them the blindness skills to achieve an independent life. So that’s what we are doing for Thomas.
Tommy, February 2014