“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.

3 Comments

  1. Bruce L Dunn MD on November 9, 2019 at 4:47 pm

    As a retired MD with HHT in the Family, I can promise you, we never heard of HHT.
    As to what to do, maybe you could send Sofia’s story to every Medical school ( MD and DO ), Pediatric , ENT, and Family practice program every where.—–simply asking them to teach about HHT–maybe ask Cure HHT to flood the programs too.
    As Saint Padre Pio says, “Pray, Hope and don’t worry (don’t be angery) as worry and anger don’t help”

    Bruce L Dunn MD

  2. Marijo McCune, Board of Directors member, Cure HHT on November 10, 2019 at 6:33 pm

    Hi Ashley,
    Thanks so much for sharing your story. Your frustration is certainly warranted and unfortunately shared by so many of us affected by this disease. You’ve done all the right things and Sofia is lucky to have you as her warrior. Be sure to speak with her school nurse to make her aware of Sophia’s condition. This information is available on the website, curehht.org. You can also reach out to your local newspaper, morning television programs, radio stations etc, to see if they might be interested in doing a feature on HHT. Your coordinator at the Center of Excellence may be able to put you in touch with other HHT patients in your area. You could then plan a fundraiser which is always a good way to raise awareness. Stay positive and know there are very smart and dedicated doctors and scientists working tirelessly to cure this disease. If I can help in any way, please feel free to reach out.

  3. Patty Hepplewhite on January 1, 2020 at 11:56 am

    Thank you for your blog! I have decided that 2020 is the year for me to learn more, say more, and do more regarding HHT and my family. I first was told I have anemia when I had a physical for a job, then for the next almost 30 years I have struggled off and on, sometimes more severe than others, with anemia. My doctor kept saying that I was losing blood somewhere, and I had 5 colonoscopies in 10 years, before a camera endoscopy finally pinpointed the area where blood loss was most likely occurring. Fast forward to about 6 years ago and my adult son was suffering from severe nosebleeds (he had since a teen), so I went to the ENT with him. He had several cauterizations from a couple doctors, before we finally found a doctor who knew about HHT and sent him to a specialist. Now, armed with the name of the condition we were able to do research. We have both now had laser surgeries on our noses, and have to go in for regular iron infusions, and I have had several blood transfusions. Like you, we have discovered most medical personnel do not really know much or anything about HHT. My blood loss seems to be in my GI track, and while my son has severe nosebleeds, he probably has blood loss elsewhere as well. We are treated by a hematologist, an ENT, and a GI doctor. My insurance won’t pay for the HHT specialist here in Colorado, so I have not had the official gene testing, however there is no doubt since my son had it. That is all for now, however I encourage you to be in touch.

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