When Gracie was just 3, we made a trip to New York to see a doctor. This particular doctor was THE doctor to see for kids who don’t feel pain. She specialized in dysautonomia, or dysfunction of the autonomic nerves, which is usually present in kids who don’t feel pain. This doctor did a thorough assessment. She tested Gracie’s histamine response, which is an easy test to administer but not one most doctors do. (Gracie had a “classic” abnormal response.) She watched Gracie try to walk—the appointment was several months before Gracie became independent with walking. She gave us her full attention and gave us a good deal of advice, too.
(I’ll never forget that appointment for several reasons. The doctor’s office had an amazing view of the Empire State Building. We were an hour late to the appointment because the train wasn’t running in Hartford (where we were staying with Chad’s uncle) and we got stuck in traffic. Gracie was very sick; she was spiking fevers every three to four hours with full-body shakes and the whole nine yards. I piggybacked Tylenol and Ibuprofen the whole time we were on the east coast, and gave her Benadryl at night in hopes that she wouldn’t wake up when the fever reducers wore off. She was admitted as soon as we got home. She had a kidney infection, and at one point at the hospital she spiked up to 106. It was unforgettable.)
When the specialist wrote her report, she suggested that perhaps Grace had a rare condition called Posterior Column Ataxia with Retinitis Pigmentosa, or PCARP. She explained that PCARP causes sensory neuropathy, which causes ataxia due to lack of feeling in the extremities, and affected persons also have retinitis pigmentosa. PCARP is caused by mutations in the FLVCR1 gene, which is named for feline leukemia virus (fun fact!).
Later, one of the specialists at the children’s hospital here tested Gracie for PCARP. The test results were inconclusive; they found one mutation but not two. Rare genetic disorders are generally recessive, so if a person has one mutated gene and one regular gene, the regular gene will be dominant and the person will present as normal. Thus, when Gracie’s tests showed only one mutated copy of the FLVCR1 gene, they were inconclusive.
The results of the genetic research study showed that Gracie actually does have two mutated copies of the FLVCR1 gene. The copy she received from Chad has a heterozygous mutation—meaning that Chad has one regular copy of the gene and one mutated copy. The copy she received from me has a different type of mutation—transposition of DNA from a different gene onto the FLVCR1 gene. Because both of Gracie’s copies of the gene are broken, she presents with PCARP.
A quick Google search illustrated the extreme rarity of Grace’s condition. A study from 2011 listed the incidence as less than one in a million, and said that 20 cases have been reported in the last 50 years. Guess Gracie makes 21.
There is one other family on the Facebook group whose child has been diagnosed with PCARP. However, he doesn’t have retinitis pigmentosa, at least not yet. He is still a child. From what Google told me, many people with PCARP present with retinitis pigmentosa first, in childhood, and later develop sensory neuropathy and ataxia. They eventually lose the ability to walk and lose their vision. Gracie is way ahead of the game—her sensory nerve dysfunction and RP were severe at birth.
The good news is, this isn’t a death sentence. Also, having a real diagnosis may help Gracie get services and public assistance as she ages, although not having one has never really hindered her before. The diagnosis won’t change our day-to-day lives very much at all. I don’t even know if Gracie will lose the ability to walk; it sounds like the others start out walking normally and lose the ability as they lose sensation. Gracie never had sensation so she had to learn another way. Her nerves cannot get any worse, so maybe she will remain able to walk in her own way.
We do know that Gracie’s vision will worsen and eventually she will become completely blind. That is not a surprise—we have known that since she first got the diagnosis of RP at age 2. I’m holding out hope that modern medicine will find a way to restore vision to people with damaged retinas, though. It’s all I have; thinking about her becoming blind (blinder?) is too much. We protect ourselves by avoiding reality at times.
It’s good to have a diagnosis, I guess. It doesn’t feel that good, though. I feel tired, drained, stressed, and sad. Adding to the stress, Gracie broke her arm this week. She was just playing in the sprinklers in the thick grass at the park and didn’t even fall hard and she broke both bones. It’s the worst injury she’s ever had, and no one even knows what happened. I do know that I saw her arm bend in the wrong place when she rubbed her face with the injured hand, and she didn’t cry at all—didn’t even notice. Shudder.
At some point, I’m sure I’ll feel glad to have answers. I kind of do now, even, behind all the sadness and stress. It is a good thing to be able to put a name to the disorder—it will definitely help Gracie in the long run. And hopefully, her amazingness will shine through it all.
Of course it will. She is Amazing Gracie.