Saturday, October 3, 2015

HPS & Self Advocacy

When we first learned that our baby girl had Albinism, Google, of course, was the first place I turned for answers, support, or anything else to normalize and navigate what otherwise felt like very uncharted territory. So, when one of the things that popped up was HPS: Hermansky Pudlak Syndrome my heart and my mind started racing.

Hermansky Pudlak Syndrome is a disorder characterized by Oculoctaneous Albinism and can cause problems with blood clotting which leads to easy bruising, as well as prolonged bleeding and can cause people to develop lung disease which causes scar tissue to form in the lungs and once this happens it can be fatal.

You know where I am going with this.

I needed to know that Scotlyn did not, unknowingly, have this and those answers would lie in genetic testing. A referral to genetics was put in, I did a phone interview outlining our family histories, and was told the wait would be over six months. So, imagine my surprise when less than two months later they called saying they had a cancellation and that we could come in the next day.

We were there.

After the usual reflex tests, eye exam, and explanation of the genetic process of how this condition came to be and what it means for our next pregnancies we were told that they were not going to do genetic testing on Scotlyn because based on the diagnosis from what doctors could see that there wasn't a need to confirm it with "expensive" testing.

I brought up HPS, which they were familiar with, and we were told that symptoms of this present early, that she appears healthy, and not to be concerned. I left feeling disheartened, but like most people decided I had to trust the doctors.

After coming forward with my initial post I was contacted by other parents, some within Canada, who said she should absolutely be tested and there is no way to know if she has HPS just by looking at her, so I did some research and they were right.

This is when I learned my first true hard lesson on Self Advocacy. I called the genetics nurse, who has been our liaison, who proceeded to tell me that HPS and Oculoctaneous Albinism are not related and there was no reason to test. I tried to correct her and explain that they are indeed connected and explain the importance of testing, but she wouldn't budge. I could hear it in her tone, I was that over bearing parent. After we hung up with a promise she would email the doctor and see what she says, but that they probably wouldn't get funding for the tests because they weren't necessary, I sent her a strongly worded email with resources proving my claim. Within minutes, I had an email back saying that she was wrong and that she was sorry and had emailed the doctor. This felt like a small victory. Someone heard me. 

We are now waiting to hear back from the genetics doctor in Red Deer, Alberta to see what she is willing to do for us, but in the mean time I have connected with a member of NOAH (National Organization for Albinism and Hypopigmentation) who has told me that is possible for testing by doing a simple blood test and she will help me get it done. We have also been invited to a BBQ for the families in Alberta living with Albinism which I am so excited to connect with everyone and learn from them!

The stars are all aligning. 

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