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.

Tommy wearing his little hospital hat and bracelet, just minutes old.

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.

Tommy wearing his eye shield post surgery at about six months of age.

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.

Picture of Tom with his mouth wide open in a happy face. His eyes are open wide.

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.

Tom is playing with a push walking toy just hours after surgery.Kids are resilient!

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

Tommy playing his recorder. He has an excellent sense of rhythm.
Tom’s Team of Doctors
Pediatricians
Dr. Erin Davies (Tom’s PCP)
Dr. Sylvia Choi (Children’s Hospital of Pittsburgh, Diagnostic Referral Service)
Pediatric Ophthalmologists
Dr. Ellen Mitchell (Glaucoma)
Dr. Noecker (Glaucoma)
Retinal Surgeons
Dr. Karl Olsen (Retinal Vitreous Consultants, Pittsburgh, PA)
Dr. Antonio Capone  (Beaumont Hospital, Michigan)
Tommy playing with a gym ball filled with bells for auditory feedback

13 thoughts on “Tommy’s Eyes

  1. Good luck Tom! Hope you have a successful time ahead!
    All the power to Tom’s parents, you are doing a great job 🙂

    Sending lots of prayers and positive vibes your way!

  2. Danielle

    My babys has r.o.p from being a micro preemie.. my daughter was sent to dr. Capone when he first met us he didt think my baby would ever see more then lights and shapes, now she sees a little in the right and light n shandows in the left he is a very amazing doc I appreciate him so much for all he has done

  3. Savanna

    Thank you for sharing; my son was just diagnosed today at 4 months old as having PFV, micropthalmia and cataract and we are scheduling a (hopefully) corrective surgery to try and give him what vision we can asap. I was so grateful to find this page in all of my research as I am trying to take this all in. Best wishes to your beautiful son Tom, and to your family!

  4. Kristen

    Thank you for sharing Toms story. My 1 wk old niece was dx with unilateral pfv at two days old. We knew right away something was wrong with her right eye.

    • Hi Kristen,

      It always pays to go with your gut if you think something is wrong. So glad she was able to get a quick diagnosis. I hope thinks go well for her!

      Jessica

  5. Bonnie

    My daughter was diagnosed with unilateral pfv and cataract yesterday. Thank you for the information

  6. Cheryl

    I am re-reading this today, What did they find out at Tom’s last meeting about his light perception?

  7. Fern Saxon

    Hi there my son Laurence (now aged 2) has unilateral PFV syndrome presenting in malformation of his iris due to trapped Vasculature tissue. His pupil is abnormally positioned and small means his vision is highly obstructed. He began receiving treatments at 8 weeks old, but we did not receive a diagnosis until he was over a year old. We were refered to 4 hospitals before finding someone who had any idea what was the cause. PFV syndrome is rare in itself however only a tiny proportion of those present as my son has. He has coped with 2 trips to theatre and has painful medication routine he endures daily which has saved his sight, and has just begun wearing glasses to help improve his vision. I’m so proud of him and honoured to be his mum. Thomas looks like a smashing little chap. Thankyou so much for sharing your story, it makes me feel like we are not on our own x

    • Hi Fern,

      So glad you found us and that your son is doing so well. There’s a Facebook group I think you might like – People with Persistent Hyperplastic Primary Vitreous (PHPV) Unite! There are so many people to talk to about PFV (they use the old name PHPV), parents of children with PFV and adults with it. It’s really helpful.

  8. OPHELIA

    Hi my 4 month grand baby was just do too. She will be heading to Michigan for surgery sometimes this month. Inside I’m falling apart but her I’m trying to stay strong for my son. I need prayers, advice and comforting words. Help

  9. Steve

    Thank you Jessica for sharing Tommy’s story! My 6 day old son was just diagnosed with PFVS and, while we are celebrating that it’s not retinal blastoma, my wife and I are still very, very concerned. You mentioned in your story that you wouldn’t know how impaired Tommy’s vision was until he got older and could better describe/communicate his experience. If you could find the time to update us on what you’ve learned these 3 years since you wrote Tommy’s story, it would be GREATLY appreciated. He seems like a super child and you are clearly a super mom. i’m hoping this finds you both well and happy. Thanks again, Steve

    • Hi Steve,
      Congrats on the birth of your little one! Tommy is completely blind. His PFVS was severe and bilateral. We think he had a bit of vision after a couple of the vitrectomy surgeries but he developed glaucoma which took any sight he had. But he still has both eyes and does not need prosthetics. Some children with severe PFVS can develop pain and need to have the eye(s) removed. We have not had to go that route and he does not have any pain, so I consider that a great outcome for someone with his eye conditions.

      Tom has other things going on besides his eye conditions so his experience may not be completely applicable to your situation. I can tell you that we’ve found great resources both through our community, hospitals and school system that have benefited him greatly. He is a confident and happy seven year old. He currently knows about 1/2 the alphabet in braille (both reading and writing) and he is a capable and bold cane traveler. We take his cane with him everywhere he goes and we have for years.

      What area of the country are you in? I could suggest some resources for you.

      But I would give you these bits of advice:

      Your son is visually impaired and may be blind. It’s ok to take some time for you to adjust to that idea, but for his sake you need to be strong and positive. He can have an incredible life no matter what level of vision he ends up with. Great opportunities will be open to him because of his visual impairments. Teach him to be bold and brave. I let Tommy try things and I don’t coddle him. He went skiing this winter and he’s getting ready to leave for a week of sports camp (with all blind and visually impaired kids) for the second year. He loves it!

      Best of luck to you and your little one! I’ll be happy to answer any questions you may have.
      Jessica

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