September 25, 2016
Tegan was born with vibrant white hair, nystagmus, light sensitivity and difficulties with vision. It was known at birth that Tegan had albinism.
This spring (2016) during Tegan’s IEP (Individualized Education Plan) evaluation for preschool we discovered that Tegan wasn’t hearing great. Through the ENT (Ear, Nose, Throat) doctor we found that he had lots of fluid in his ears and needed ear tubes put in to ensure he could hear to the best of his ability to offset his difficulty with vision.
At the end of June (2016) Tegan had ear tube surgery. It was a quick and easy out-patient surgery but he ended up bleeding for over 24 hours after the surgery. He bled through the night until he had a blood clot so large that it was coming out of his ear canal in the morning. This is not a normal response to ear tubes which are expected to cause very little, if any, bleeding. We were in contact with the ENT doctor at this time and because the bleeding had stopped at this time we scheduled a follow-up appointment for a month out. We were able to remove some the clot at home via the nurse’s suggestion, but during the follow-up appointment we found that the blood clot was still in his ear and it was blocking all visuals to the tube and eardrum. He was going to need another surgery to take it out the rest of the blood clot. However, the ENT doctor did not want to do another surgery until we investigated why Tegan had the bleeding response he did to the tubes.
At this point the ENT referred us to the hematology department. On Monday, September 12th we had our appointment and did a blood draw to find out what was happening. Tegan was a trooper and didn’t even cry. Like always, he was sweet, kind, and funny with the nurses and simply said ‘Ouch’ with the needle poke without shedding any tears.
By Friday morning we got the results back and the news confirmed what we feared. Tegan's diagnosis is Hermansky-Pudlak Syndrome (HPS). Hermansky-Pudlak (HPS) is a very rare genetic disorder that causes albinism, platelet abnormalities and other complexities. Tegan has always had bruises all over but as he has become more mobile and daring these bruises have shown up in abundance. Tegan’s platelets lack dense bodies which aid in blood clotting. As a syndrome, Hermansky-Pudlak affects multiple systems in the body including a risk of inflammatory bowel disease and pulmonary fibrosis in addition to albinism and blood clotting issues. There are currently 9 different types of HPS and at this point we do not know what type Tegan has. Our biggest concern right now is the blood clotting, but as he gets older he has the potential of developing the other symptoms depending on the type of HPS he has.
Our next steps are figuring out what all of this means for our little boy. We will be meeting with the hematologist again on Monday September 26th as well as with a geneticist at the end of October to discuss genetic testing to determine what type of HPS he has. We will update you all when we get those results.
We do feel lucky to have caught this when he is 3 years old so that we can be the best advocates we can for him. Some people only have nystagmus in the eyes (involuntary movement back and forth) with fairly good vision, lots of pigment and can go their whole lives not knowing until they have a surgery or develop pulmonary fibrosis in their 30s. This does allow us to be prepared and aware so that we are ready to address whatever comes our way.
We are scared right now because there are lots of unknowns, we are sad because here is one more thing he has to carry with him in this life, and we feel so incredibly blessed to call him our son. He is just pure love and joy and it radiates off of him. We know we will get through this and how we approach all of this will determine how well he handles it. Right now we are grieving, but we also know every day will get a little bit easier. Tegan is still the happy, crazy, funny little man we all know and love. He doesn’t know anything different and we plan to work hard on our own heart break so that we can help him approach this with courage and confidence. We know he will and we will with time.
Google is always dangerous when trying to search for information like this, so here is great (reliable) site to understanding HPS more. www.hpsnetwork.org
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