Patrick is a typical 12 year old who happens to have a rare bleeding disorder called, qualitative platelet disorder; the diagnosis is descriptive rather than specific – we have been told it is a one in a million condition and they do not know why his platelets do not function properly. We also don’t know how/why he has it. Nobody in our family from either side has any bleeding issues; however, the specialists assume it is autosomal recessive.
When he was an infant, Patrick did experience some superficial bleeding issues when he scratched his face or got bumps/bruises from playing with rattles. In hindsight, he did have severe bleeding issues from his circumcision and had to be cauterized with silver nitrate. Despite these efforts, he still oozed for 2 weeks.
Patrick’s history of blood work is mountainous, and started at a very young age: 3 months old sent for platelet count testing (his count is fine); 6 months old sent for additional blood tests; 7 months old sent for Platelet Aggregation testing; 8 months old sent for PT & PTT, more Platelet Aggregation, Factor XII, timed bleeding test and more.
When we returned to our local hematologist, they stated upon providing Patrick’s blood work results, “I consider myself an expert in my field, but your son humbles me. I don’t know what is wrong with your son.”
….and so the quest to find the best doctor(s) I could find for my son began. We took him to Children’s Hospital of Philadelphia (CHOP) and to Cornell University. Patrick was seen at CHOP when he was 9 months old and is currently followed there (when we went to Cornell when Patrick was 14 months old, they told us the hematologist we were seeing at CHOP was the best platelet doctor in the country, if not the world).
Patrick currentlyÂ wears a medical alert bracelet; he had to wear a helmet till he was 2 years old and steady on his feet because of the risk of bleeding to his head. Patrick will never be allowed to participate in wrestling, football, or any contact sports. Patrick is at risk of suffering from spontaneous nosebleeds that do not stop on their own. At 15 months old, he had a nose bleed which went on for 6 hours, and then was given platelets to stop the bleeding – it was his first platelet transfusion. Patrick, as a tween with braces, cannot take aspirin or NSAIDs, which has been a struggle. Having them tightened is painful and Tylenol just doesn’t alleviate the pain the way Motrin or Advil would.
There are no specific medications for Patrick’s condition; however, he does take Amicar and/or Stimate if there is a bleed because they do help a ‘very little bit’; platelets transfusions are the only thing that works for serious bleeding events, and thus far he has 4 platelet transfusions under his belt.
On May 27, 2008, at age 4, Patrick sustained a life-threatening bleed. He lost >25% of his blood volume due to his tonsils bleeding after a bout of strep throat; he was hospitalized for 3 days (given both platelet and red cell transfusions to save his life). Upon discharge and follow-up with an ENT, it was thought Patrick might need a tonsillectomy. However, in consultation with the hematology team, it was realized this would be a last resort. If it was to happen it was going to be a life-threatening procedure due to the nature of Patrick’s bleeding disorder, and there was no guarantee that he could survive such a procedure.
When we went for an ENT follow-up appointment 2 months later on July 9, 2008, we were told Patrick’s tonsils would not need to be surgically removed, nor require any other medical intervention at that time.
January 29, 2010, Patrick had to have his two top front baby teeth extracted because of excessive bleeding due to premature loosening (he banged his mouth while goofing around with his big brother). We had gone to our local hospital but then were directed to go to CHOP because Patrick’s hematologist was concerned about severe bleeding upon extraction of the 2 teeth and the potential gushing of blood which would compromise Patrick’s airway. After >10 hours of bleeding and 2 Hospitals (100 miles apart in 2 states), the bleeding was stopped by applying pressure to the gums once the teeth were removed and medication both topically and intravenously (Amicar and DDAVP).
January 17, 2014, at age 10, post 1 week of healing from a bout of strep throat, Patrick has a sudden tonsil hemorrhage (here we go again from what happened in May 2008). We had called 911 and were rushed to our local hospital via ambulance with a police escort. Patrick received platelets at our local hospital and then was airlifted to CHOP where he received more platelets and was hospitalized for 2 days. Again we were facing the realization that he may need a tonsillectomy. However, after consultation with hematologists and ENTs at CHOP, once again it was determined surgery is TOO risky and would be life-threatening.
We are always looking for further medical information; as well as support. Patrick does not have hemophilia, von Willebrand Disease (vWD), Glanzmann’s Thrombocytopenia, or ITP (all of which have specific support groups and specific information for their named condition). We take a little information from each of these resources as a guide, but it’s as though ‘we just don’t quite fit in.’ We will never give up hope for a cure and an understanding and at the very least a name for this condition.
Like all children who deal with chronic illness, they seem to be amazingly resilient, and at times do better than their parents; we are in awe of our son.Â We are currently in a clinical study in which Patrick’s genome and exome testing is being done. We will not obtain results until later in the year. We are hoping with the results it will be the beginning of gaining an understanding of Patrick’s rare bleeding disorder, something he deserves to have in his lifetime. Is his condition genetic and unique to Patrick? Can he actually pass it on to his own children? We hope this is a new beginning for answers.
Sue Macnab lives in Cranford, NJ with her husband Kevin and two sons Nick and Patrick.