As I have said before in one of my previous posts, this blog was originally birthed to become an online support community for parents who have kids with rare conditions. One way in which I planned for this to happen was to interview parents who have kids with these rare conditions in order for them to get their story out there so that other people in similar situations can feel like they are not alone, so they can reach out for support and so that they can possibly contact these families and create relationships with them. So, here it goes.
Let me introduce you to the May family.
KM: Please introduce yourself and tell us about your daughter, Louise.
We are the May family, parents Ryan & Tina and children, Lorraine (7yrs), Keith (5yrs) and Louise (2yrs). Louise was born on October 23, 2009. She had a healthy birth and a very normal start to her life. I (Tina) had been a stay-at-home mom for 6 years when Louise was about 5 months old I returned to the workforce. Fortunately for our family, Ryan’s mom decided to be primary caretaker during the hours I was at work. It was the end of March and work was off to a great start and the children were adjusting to life without mom at home 24-7. About 1 – 2 weeks prior to Louise’s 6 month wellness check, we (Tina, Ryan & Ryan’s mom) noticed a rather large unexplainable bruise on Louise’s left shin. It was about the size of a quarter and a real goose-egg. It was very dark (almost black) and we couldn’t figure out where she got it. It didn’t appear to bother her and we figured one of our other two angels did something and didn’t admit it to us. But within a few days of the appointment we noticed more and more strange bruising all over her body. These were not huge like the one on her leg, but they were the funny dark purple and very strange.
So the day of the appointment arrived and I immediately discussed this strange bruising with the doctor. She was concerned and started to disrobe Louise to check her entire body. Upon removal of the diaper, we saw a new symptom, a reddish pin prick looking rash on her legs where the diaper elastic made contact with the skin. She informed me that this was called petechiae. This rash was not in itself harmful and could possibly be related to the hot weather we were having, but along with the other bruising, she wanted to have some further blood work done. So we completed the exam as normal and then I walked next door to the Children’s Hospital Outpatient/Lab center (it’s in the same complex, how convenient!) and had her blood drawn. I was told I would receive some results later that day as well as in the days and weeks to come.
On the drive home, I received a call on my cell phone (mind you, I only live 20 minutes from the doctor’s office). The nurse on the other end asked me where I was and where I was headed. I told her that I was on my way home and asked what was wrong. She told me that Louise had “a critically low platelet count” and that I needed to take her directly to Children’s Hospital downtown and that they would be waiting for me. She asked if I was able to go directly there and I did. After what was one of the longest days of our lives, we learned that Louise had a condition called ITP. Unfortunately this is a diagnosis by default. When all other possibilities can be ruled out, ITP is the diagnosis for her particular symptoms. Louise had a platelet count of 2,000.
KM: What is ITP?
ITP stands for Idiopathic Thrombocytopenia Purpura. ITP is a somewhat rare condition that typically affects only children ages 2 – 10. Children usually grow out of it within 6months of onset of symptoms and very rarely (less than a few percent) do people have this for a lifetime. Adults can also develop this condition (although extremely rare), however it usually chronic and lifelong for them.
ITP is when the body creates antibodies for the platelets in the blood. These antibodies mark the platelets and they are destroyed either by white blood cells or in the spleen. This is an autoimmune disorder. There is no known cause for ITP although recent research links this to viral diseases and may be a result of a viral infection. The reason most children grow out of it is the same reason you have to have booster shots for past immunization. Your body produces cells that make the antibodies. An immunization in effect programs these cells to make a certain type of antibody for the infection you are trying to prevent. Eventually these antibody making cells die off and you become less immune to that particular type of infection. The same thing happens in the case of ITP except your body is making antibodies for the wrong thing. Instead of fighting infection, it’s fighting the platelets.
Platelets are the cells in the bloodstream that clot. So when you get a bruise, platelets are what stop the internal bleeding. They are also what becomes the scab when you are cut. The job is to stop the blood from flowing where it doesn’t belong. Platelets also serve another very important function; they line the walls of blood vessels to keep the blood from leaking out of the vessels. Your blood vessels are like tubes with shutters. When you have an infection in your finger, your body will inflame which basically means the shutters of your blood vessels will open around the site of infection to allow the white blood cells (the killer cells) to pass through to attack and destroy the infection. Because your vessels are like shutters, they would easily leak blood if they didn’t have the platelets to coat them on a regular basis.
KM: You mentioned that Louise had a platelet count of 2,000. What is the normal range and what happens when you are low?
The normal platelet range for people is 150,000 – 400,000 platelets/micro liter. This is what doctors can test for in a CBC or complete blood count. This is a gauge of how much free-flowing platelets there are in the blood as there are quite a bit more lining the walls of the vessels. When the count of platelets goes below 100,000, you are at an increased risk for bleeding but generally safe. Counts below 50,000 are at high risk and require activities where you could receive a head injury to be restricted. Counts below 20,000 typically require medical intervention and heavy activity restriction. Counts below 10,000 require hospitalization and treatment until the count returns above 20 – 30,000. The reason is at 10,000 or less, you are at very high risk of spontaneous bleeding anywhere in the body including the brain. Even the slightest injury could be very dangerous.
KM: You mentioned to me that her condition has gone into remission, will you explain what that means and also how that will affect her moving forward?
I’m proud to say that it does appear that Louise’s condition has gone into remission. Only time will tell for sure, but her count has been maintaining above the low normal (150,000) count for the past several months. She also has not required any treatment since July 28, 2011. Remission in this case means that it is highly unlikely that she will revert into making these antibodies again since it most likely means that the cells producing these antibodies have died off. Please see above where I discussed how immunization works.
KM: Is there treatment for ITP?
The treatment that can be given to Louise is called IVIG. This is intravenous immune globulin. This is a drug that is derived from human blood and is given by IV for 6 hours in the hospital. It is an antibody for everything in the blood. This sounds counter intuitive, but it works like this. If your spleen can only destroy a certain amount of cells a day, then its better that it destroys all types of cells instead of being focused on one type. Your body continually produces new blood cells in your bone marrow so it’s ok for the body to destroy them. If the spleen now destroys all blood cell types, your body will come back into balance and you can make more blood in a day than the spleen can destroy. These treatments are very costly, around $3 – 5000 each time. Thankfully the Lord provided me with a good job that has great benefits. Louise has had 16 treatments (not including hospitalization, this is around $64,000 just for treatment). Luckily for us, insurance has covered all but $5000 (over two years) of this expense.
KM: Is this a genetic disorder? If so, is she the first in your family to have it and does she have a chance of passing it?
To date, this is not considered a genetic disorder. However, there is not enough known on the mechanism that causes the condition to manifest. It is important to note that we have a large amount of autoimmune disorders in our family. Her father, Ryan, has Ankylosing Spondylitis (autoimmune condition that causes joint and eye degradation) along with other men in Ryan’s family. Her grandma has autoimmune disorders in her thyroid, Hashimoto’s and Grave’s diseases. Her great-grandma had Rheumatoid Arthritis. Her great-aunt had Type 1 (Juvenile) Diabetes. While none of these conditions are linked, it definitely is suspicious (even to the doctors) that she developed an autoimmune disorder. There is no evidence to date that she could pass this onto her children. However, her brother and sister are at a slight increased risk of developing ITP.
KM: How has Louise’s diagnosis affected your family?
It was very difficult in the beginning. I had started a new job (only been there for a month) and we were living week to week. We counted time passing by hoping the next CBC would yield better results. This went on for several months and then we finally started to adjust. I can definitely say that Ryan and I were tired all the time. Our two older children worried some and struggled to adjust, but just like anything else that is difficult for the family, we trust God, pray and hunker down to pass the storm together. Louise was generally unaffected. She didn’t know any different because she was so young. This was a blessing from that stand point. Also, this condition doesn’t cause any known pain. So from that perspective, you would never have known anything was wrong with her. She did tire a little more easily, but nothing a good nap couldn’t overcome. However, it’s hard to see your child be put through so much. It’s amazing how resilient children are. She even had a spinal tap once her condition was deemed chronic and she bounced back the same day. If only adults could learn to be a little more like children! Ryan and I have learned to lean more on God and not try to stand on our own. Not that I would want to go through this again, but our family is definitely stronger because of what the Lord was able to do through us as a family. In a way, it’s one of those strange blessings in disguise…even with all the nights of tears.
KM: Ryan, your husband, mentioned that he has a very rare autoimmune disorder – will you tell us a little about that as well?
I mentioned it above, but Ryan has two related conditions, Ankylosing Spondylitis and Post Strep Reactive Arthritis. These are both autoimmune disorders that are genetically linked. The gene is HLA-B27. You can have the gene and not have these conditions, but you cannot have these conditions without the gene. Ryan has had seemingly unrelated symptoms for many years and I think it really dates back to his teenage years. However, his condition didn’t become full blown until he was around 30. He’s taken all types of drugs to control it, but has now decided that the remedy is worse than the malady so he’s gone off all forms of medical treatment. Please be aware, that he has a moderate version, not a severe version (although it might feel severe) of these conditions. The medications to treat are chemotherapy drugs. There are many severe side effects and each patient will need to balance risk to perceived improvement. For Ryan, the risk was too high and he discontinued use of the drugs. For the most part, these conditions affect his joints all over the body. It comes and goes. He’s found that if he stays active, this is the best medicine, even when he has to push through the pain. It does affect his mood from time to time; nobody wants to be in what feels like endless pain. However, he’s also able to counteract that by trying to stay positive and working out. Physical exercise not only keeps his body in good shape, it also increases endorphins when elevate your mood naturally. He also tries to eat right and shies away from foods that can cause inflammation. He has found that reading other people’s blogs and chat rooms specifically for these conditions to be comforting. It’s nice not to feel isolated, like someone else understands exactly how you feel.