PSPD 101- What is Platelet Storage Pool Disorder

Hello, My name is Kari Peepe and in 2011 my daughter and I were diagnosed with a platelet storage pool disorder. After several years of researching and going online to find men sharing their stories about hemophilia, but never women talking about platelet disorders. . . I decided to start my own personal blog, A touch of Scarlett. This has become a place where I share stories about our life with a rare bleeding disorder, spread awareness and hopefully empower others to help me in the fight for a better treatment plan. 

1- What is PSPD?

PSPD is as autosomal inherited disorder (like Cystic Fibrosis)

PSPD is a rare autosomal inherited bleeding disorder. Unlike hemophilia which is an x linked recessive bleeding disorder. Platelet disorders fall into 2 categories Qualitative (abnormal function and/or structure of the platelet) vs. Quantitative (from having too few or too many).We fall under the qualitative category.

Platelets are small parts of the blood cells that help wounds heal and prevent bleeding by forming clots. The primary function of platelets are adhesion, aggregation, activation and secretion. Our platelet aggregation test showed that our platelets don’t clump together, we are missing the glue that holds the platelets together to form the clot. 

Delta Storage Pool Disorder, Glanzmanns and anyone that falls into the category of storage pool disorders share common symptoms and treatments, however, effects can vary between different patients.

Normal day-to-day bruising

2- How do patients with PSPD get diagnosed?

Diagnosis of SPD is very extensive and requires platelet aggregation and flow cytometry analyses with interpretation from a specialist. Scarlett and I were sent to two different specialist to get tested-I got sent to Stanford, Scarlett got sent to Kaiser’s Oakland Pediatric Hematology/Oncology Unit. My tests took 3 different trips to Stanford for testing over a 6 month period and I was pregnant at the time. Once I was diagnosed and Kaiser knew what they were looking for they started the process of diagnosing Scarlett. They messed up her test once by not processing them in the proper amount of time and/or moving them too much and it ended up taking 4 more tests to get her officially diagnosed with PSPD. She had nightmares for months of Dr’s and it took years to not have to pin her down when getting shots. 

3-What are the symptoms?

Inherited platelet defects lead to bleeding symptoms of varying severity.

Typically, there is a lot of . . .

Head injury covered half her forehead

• Extreme bruising -Palpable bruising (more blood collects in the space/pocket) My daughter and I are covered in bruises.

• Nose Bleeds I’ve always had bloody noses. Fortunate enough to not have to cauterize but non the less, a lot of nose gushers, as I call them. 

• Petichiae I get little dots almost anytime I scratch myself. My daughter even gets them under her eyes and cheeks from straining her face to throw up when she has the stomach flu

• Bleeding from gums/dental work Most memories of dental visits haunt me, even to this day. I only had my wisdom teeth pulled on one side because I had such a traumatizing experience when the first side was pulled. I’ll never forget being 20, out on my own living with my boyfriend, embarrassed as hell.

         I called my mom and told her I had locked myself in the bathroom and was loosing an extreme amount of blood. In the time it took her to drive across our small town, I had gone through almost 2 rolls of paper towels, holding them against these open wounds in my mouth that were literally gushing with blood. Now its recommended I take my meds before going to the dentist for normal cleaning and such and platelet transfusions prior to dental procedures.

• Menstrual Cycles I’ve never suffered from horrible menstrual cycles, but I was put on the pill within a year of starting my periods, so its unclear if that helped with the bleeding during adolescence.

         I also have suffered from ovarian cysts erupting since I went off oral contraceptives and started using the mirena (2-3 per year, for the last 8 years).
         I've also suffered through horrible GI infections all through high school and well into my college years, where bright red blood was in my urine stream.

  • Bleeding after surgeries Dr’s wouldn't let me circumcise Walker because we didn’t know if he had PSPD yet. Dr’s won’t perform day to day surgeries on me,(like getting tubes tied for fear of the unknown) 

• Bleeding after delivery of child When looking back on the birth of my two children I luckily have two completely different experiences. When Scarlett was born I was so caught up in the newness and fear of it all I wasn’t even paying attention to what was going on with me and I came out it thinking the bleeding that went on was normal and couldn’t necessarily be blamed on my then undiagnosed bleeding disorder. We knew there was a lot of blood because they called in three different nurses and dr’s and it took like what seemed like forever to get the bleeding to stop. My husband would later admit to me that he thought he was going to gain a child, but lose his wife that day. He says the amount of blood I lost during that delivery was far more severe then when I had Walker. . . Which is odd considering how the Dr’s would later describe Walkers delivery.

         

         I had gotten diagnosed with PSPD during my pregnancy with Walker and we had a team of DRs’ through out Northern California working on the case and we thought we had a good game plan. 

         We had a team of specialists (a doctor that was there during the whole delivery,  and by the end of delivery. . .2 doctors, 3 nurses, and a pediatric nurse was there for Walker, cause we were unsure if he had PSPD as well and would have complications.)  But even with all our pre-planning, now two platelet transfusions and close to an hour of post bleeding they ended up taking me to emergency surgery, and to this day I’m not really sure what they did? I know some cauterizing, and I think a D&C was given to make sure everything was detached correctly. My husband overheard the Dr in charge of my delivery talking to one of the nurses where she described the experience by saying “In the 23 years I’ve been delivering babies, I’ve never had a case like this and seen so much blood loss. They had me in a completely different delivery bed and were measuring my blood loss, in that conversation he also heard them say that I lost over 1/3 of my blood, close to 2 liters. The average person has appoximately 5 1/2 liters of blood, pregnant women increases anywhere up to 8 liters

4-How do patients with PSPD get treated?

Currently the only treatment plan given for most patients is for those which they would provide for some VWD or Glanzmanns patients. We are given DDAVP and/or a transexamic acid for use as needed-with little or no explanation to what as needed means.

A less common approach, and one my Dr’s somewhat provided for Scarlett was the NovoSeven® RT (Coagulation Factor VIIa [Recombinant] We only have been prescribed one of these shots and have not had Scarlett tested to see if it works or if she's allergic to it. 

In Conclusion. . . .I’m constantly advocating for more research, a safer treatment plan and try to be a voice in the community that lends a positive environment where people can share their stories without being judged or discouraged. I was advised after the birth of Walker that I shouldn’t have more children and don't ever want my daughter to have to hear those same words. I’ve got a plethora of ideas on ways to improve care for those in the rare bleeding disorder community and am fighting like hell to get those ideas heard.