“How the Healthcare Industry Failed my Daughter”

Hello everyone. My daughter, Sofia, is 13 years old and has recently been diagnosed with HHT.

When Sofia was about three years old she started getting frequent nosebleeds. We tried all the obvious things, humidifiers, Vaseline or Neosporin in her nose, etc. As she got older, the nosebleeds became more frequent, more intense and harder to stop. Our pediatrician sent her to an ENT to have her nose cauterized. That helped…for a little while. It started again. We went back to the ENT for another cauterization (it has always bled from the right side, same spot). By this time she was about eight years old. I had a feeling there was more to this. I took her back to the pediatrician and asked for bloodwork. Everything came back normal, except her hemoglobin was high. We received a referral to see a hematologist at Children’s Hospital.

At our first visit, Sofia was about nine. The hematologist examined her and had additional bloodwork drawn. Again, everything came back normal. At that point, we were told that Sofia was otherwise healthy and that we should follow up if symptoms worsen or if new symptoms arose.

In the midst of her going to Children’s Hospital, I did ask her pediatrician, on more than one occasion, what are these “spots” that appeared on her face. They looked like a cluster of tiny veins. I was told it was nothing and it was basically shrugged off.

As time went on Sofia started getting migraines when she was about ten or eleven years old. The nosebleeds weren’t as often and when she did get them, they weren’t as severe.

I made a follow up appointment with the hematologist since it had been a few years since she last saw her. When we arrived, the nurse took Sofia’s vitals and noted that her oxygen was low (I want to say at 94%). She seemed a little concerned but the doctor didn’t. The visit was pretty uneventful. Again, she wanted some more bloodwork, but all tests came back normal.

I switched jobs and had new insurance benefits, so I had to switch pediatricians. Sofia saw her new pediatrician for her first wellness exam this past July (2019). I told her Sofia’s complete medical history   including the fact that I had a pulmonary AVM that was corrected in 2003. At the time of my embolization, I was never tested for HHT, nor did I even know what HHT was until recently. FINALLY, I had a doctor who listened to me. Here we have a thirteen-year old girl, no signs of puberty, her growth had slowed way down, frequent nosebleeds, migraines and these strange spots on her face, ear and now, appearing on her arm. At this point, her pediatrician sent us to see a genetic counselor.  After genetic testing, she was diagnosed with HHT.

Fast forward to today.  After screenings, THANK GOD her brain MRI showed no signs of any AVMs. Her lungs, however, have several AVMs. We are still waiting for the blood results, but it will just confirm what we already know. We met with Interventional Radiology on Oct 22.  Sofia has three to four AVMs that need embolization.  They will know for sure when they do the angiogram, which is in the works of being scheduled.  I feel so much more informed after meeting with the IR doctor.  He said we did not have to get an ultrasound of her liver at this time unless we wanted to.  Her liver enzymes were good and she is not symptomatic.  Since Sofia is thirteen and can comprehend what is happening, I left the decision up to her if she wanted the liver ultrasound and she opted to wait until the procedure to treat the AVMs in her lungs was completed.  I am so nervous but continue trying to remain calm and positive (for her).

My other children who are eight and two years old, along with myself will be tested next. I personally will be seen at the HHT Center of Excellence at Froedtert & the Medical College of Wisconsin.  My children will be screened at Children’s Hospital of Wisconsin.  The doctors at Children’s work collaboratively with the doctors at the HHT Center of Excellence at Froedtert, if anything becomes too complicated.

I am angry. I feel like the healthcare system failed my daughter. This is just another example of how you need to be your own (or your child’s) advocate. I keep hearing, “it’s so rare for a child to be diagnosed.” Yes, it’s rare because pediatricians aren’t looking for it and aren’t aware of this disease. Maybe they’re just not educated about HHT, but that needs to change! I don’t know what I plan to do to raise awareness in my area yet, but I have to do something.  Any suggestions are welcome.