Ouimet family blog, the journey with PH1 begins
My husband Kelly and I have three children together: Molly, Patrick and Matthew
Molly and Matthew Ouimet were born with a rare genetic disease called Primary Hyperoxaluria Type 1 (PH1). This disease effects one in a million people and it currently has no treatment or cure. It’s also very unpredictable and presents quite differently in everyone which makes living with it very challenging.
Here is a brief medical breakdown of what the disease is. PH1 is caused when there is an autosomal recessive defect on the AGTX gene found in the liver. When two carriers of a mutated gene (mom and dad) pass down the mutated genes to their child (sorry kids) the liver is unable to breakdown the oxalate in the body. Too much oxalate can override the body causing oxalate crystals to form everywhere. The most common place for this is in the kidneys and the crystals form into painful kidney stones. Some of these stones can pass, others need surgical removal and others can stay in the kidney and form calcifications. As the build up of crystals continue to grow in the body, the oxalate will deposit in all the organs, bones, eyes and brain. Eventually the kidneys will fail and hemodialysis will be needed to clean the toxins from the body in order to stay alive. Once this happens, the person with PH1 will need to continue hemodialysis, typically for 6 days a week, 4 hours a day until a liver and kidney transplant can be found. If only the kidney gets transplanted, the liver with the effected gene will continue to destroy the transplanted kidney.
Molly was 3 years old when she had her first kidney stone. She would cry and complain from pain on her side but we had no idea what was happening to her. We took her to the doctor several times, but they did not know what was causing it. We were told she had a side cramp from running around, or it could be gas and one doctor said she was making it up because she wanted attention. They ordered an X-ray in case she has a blocked intestine. My father told the doctor that she was acting like he does when he has kidney stones. She threw up and could not find any position to bring her comfort. She had extreme pain one moment and then moments of relief. The doctor looked at the X-ray and saw she did indeed have a very large kidney stone that appeared to be stuck near her kidney in her ureter. He had no idea how to treat this or what was causing it. We were admitted to the hospital for fluids and pain management and released the following day with a referral to a pediatric nephrologist and urologist.
It took a few weeks to finally get her evaluated and she needed surgery to remove her very large kidney stone. She also needed stents placed in her ureters for over a week. The doctors did not know what caused Molly to have a kidney stone or if she would have any others. It took two years to get a diagnosis after a family DNA blood test was done. We were told Molly had PH1. We were relieved to find out that her younger brother, Patrick, did not have the disease and was not a carrier for it either. Not only did we not know much about the disease, but neither did the doctors.
Life went on with little interference with the disease for a few years. Molly needed to drink extra water and avoid sodium. She had,labs, ultrasound and X-rays every 6 months to see how she was doing. When large stones would form, we would schedule surgeries to have them removed before they would attempt to pass. Sometimes we did not catch them in time and she would be in extreme pain. Smaller stones could pass on their own, but she had a habit of forming big stones fast.
Molly’s nephrologist told us that he believed she would continue being somewhat stable with her conditioned until she reached her adolescent growth spurt and then he was concerned about her kidney growth and told us she may need a transplant. He most likely did explain that it would be a liver AND kidney transplant, however I only remember hearing she would need a kidney transplant. It was very sobering news to hear.
A few years passed and I discovered I was pregnant with my third child, Matthew. I had an amniocentesis test done when I was 18 weeks pregnant and requested they check my baby for this disease. He did have PH1, just like Molly. We assumed he would most likely present with this disease like Molly did with getting kidney stones when he was a few years old. We were wrong.
I was so worried that I would miss something that I insisted the specialist follow my pregnancy, birth and Matthew’s first few months. Everything looked good and he seemed like a healthy baby boy. When he was 4 weeks old, we had labs done and an ultrasound. His labs showed good numbers and his kidney function was good, but both kidneys were already full of kidney stones (too many to count). The doctors thought that maybe Molly’s kidneys were the same when she was a baby and since there was no way to know that, we were told that we would just watch him and not do anything.
I watched Matthew like a hawk. I nursed him longer than I nursed my other two kids because they said it would be the best thing for him and formula might cause more stones to form. He had horrible reflux (as did Molly when she was young). When he was about 4 months old I told the doctors I thought something was wrong. He cried a lot and threw up a lot and seem to be in pain. We had an ultrasound done to see if he had anything wrong with his intestines or stomach. Nothing was found, however the ultrasound technician mentioned the density to his kidneys seemed to be off. We dismissed it thinking it was the stones he had in his kidneys. No one seemed to catch that it was much worse.
A month later, Matthew was more lethargic and cried more often. I thought he might be passing one of his kidney stones and I brought him to the doctors to have him checked out. I was told he looked fine and that maybe he had gotten too much heat since it was in the middle of summer. They said to take him home. I said no. I would not leave until I knew he was ok and requested labs. We tried to get blood and urine from him, but he was so dehydrated it was very difficult the doctor said he would send us to the emergency department to have his tests redone because the initial tests were way too high to be accurate. The nurse in the ER was able to get more blood and a short time later she came back to the room with tears in her eyes. The doctor who accompanied her told us Matthew was too sick for them to treat at their hospital. He was in end stage renal failure.
My world was spinning. I called my family and my priest. I needed Matthew baptized immediately. I thought we would be going home with hospice. The doctor came back again and said he called UCSF children’s hospital and they were sending an ambulance to come get us and transfer him to their hospital.
As our ambulance pulled up to the hospital, I asked the doctor if she thought my son would make it through the night. I was relieved to hear her say yes and that this was the hospital that the sickest kids come to. I was introduced to the nephrologist and as I was prepared to try and explain this disease to yet another doctor who had never heard of it, I was surprised with him interrupting me to explain he not only had heard of PH1, but he had other patients with this disease. Finally, we were not alone.
to be continued...