The journey with PH1 begins Part 2

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 that 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 since 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...


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