Thursday, November 3, 2011

The Only Post

Our first child, a beautiful girl named Mia, had a terminal genetic disorder called Niemann-Pick Disease, Type A. When she was diagnosed, we couldn't find much information about how the disease would progress - especially in the later stages. This website is a brief timeline of Mia's life as it related to her condition, which will hopefully provide some insight for parents whose children are diagnosed with NPA.

Birth: Mia was born on May 31st, 2009. She was small but healthy.

Two Months Old: Mia saw the same family practice physician as mom. Everything was normal at her 2-month checkup.

Four Months Old: Mia was meeting or exceeding each of her developmental milestones, but she had fallen below her growth chart for weight. She loved drinking breastmilk, both from the source and from bottles, so we were surprised.

Six Months Old: Mia still enjoyed drinking from bottles, but had trouble finishing them. She refused solid food and still lagged behind her growth chart, but otherwise seemed fine. Her doctor suggested that we supplement the breastmilk with formula, but we were weren't convinced that breastfeeding was the problem. We sought a second opinion from a pediatrician who listed breastfeeding as a special interest, and she immediately noticed that Mia had hydrocephalus. We switched doctors and decided that Mia's weight was a low priority at the moment. Mia had surgery to implant a shunt that would allow the buildup of spinal fluid to drain from the ventricles of her brain to her peritoneal cavity. We hoped that relieving the pressure on Mia's brain would improve her appetite, but it didn't.

Eight Months Old: Mia still refused solid food and was falling behind on her developmental milestones. Her doctor noticed that her liver and spleen seemed enlarged, quantified it with an ultrasound and recommended that we meet with some metabolic geneticists. After a blood test that screened for a number of enzymes, Mia was pre-diagnosed with NPA. Three weeks later, the diagnosis was confirmed by a second blood test that specifically screened for NPA.

Ten Months Old: Knowing that Mia would eventually lose her ability to swallow, we took her to surgery to attach a G-tube so we could feed her directly into her stomach. Mia forgot how to drink from bottles immediately after the surgery, but she enjoyed chewing on them. Mom continued to breastfeed, but we replaced Mia's bottle feeds with boluses from a syringe into her G-tube.

One Year Old: Mom stopped breastfeeding and we began feeding Mia infant formula, which would be her sole source of nutrition for the rest of her life. We took a vacation to a beautiful lake in northern Michigan and invited family members to visit us. Developmentally, Mia was about the same as she was at 6 months.

One Year + Three Months Old: Over a period of about a month, Mia lost a lot of her motor skills and the ability to support the weight of her head. Ascites became noticeable and caused Mia a lot of discomfort. We took her to surgery to remove the excess fluid, which gave her instant comfort, and install an abdominal drain so we could continue to relieve the pressure at home. We were sent home with a feeding pump, which allowed us to give her smaller daytime feedings and make up the difference with a continuous overnight feeding, and oxygen to help her breathe (the ascites may have partially collapsed her lungs). We began working with hospice around this time as well.

One Year + Four Months Old: Mia's abdominal drain stopped working a few days after it was placed - we didn't know that it was only designed to be a temporary device for patients awaiting liver transplants - so we returned to the hospital to remove it. While there, neurosurgery decided to reroute her shunt outlet to an atrium of her heart instead of her peritoneal cavity because draining the shunt to the same cavity where the ascites was removed was an infection risk. Luckily, we were able to use the old shunt outlet as an abdominal drain (the tube was cut in the middle because it didn't need to be as long to reach Mia's heart). Some of the doctors urged us to bring Mia to the GI clinic every few days to drain her ascites with a needle instead of using the shunt tube as a drain, which would have minimized the risk of infection, but we felt it was more important to minimize Mia's pain and discomfort. Mom is a nurse, so we were able to greatly reduce the risk of infection by changing the dressing around Mia's drain every two days. Mia's oxygen levels were normal in the hospital, so we stopped using oxygen at home.

One Year + Seven Months Old: Mia's movements had gradually become less deliberate. Her ascites slowed down over the previous month, and had stopped being a problem by this point (i.e. we weren't draining any fluid and we didn't need to).

One Year + Nine Months Old: Mia stopped smiling and laughing in the "normal kid" sense (later in life, she would make certain faces when she was happy, which we interpreted as smiles, and occasionally giggle during seizures). Her eyes were slightly jaundiced for a few days, but it didn't last.

One Year + Eleven Months Old: Mia had always been a barfy kid, but vomiting was rare at this point. We weren't complaining. She began having seizures where she would become stiff, not breathe for a minute or two and turn blue. They never seemed to bother her, aside from tiring her out, and they eventually decreased in severity. After the first couple of weeks, her seizures were usually fairly benign. She was also becoming more lethargic and occasionally looking pale, so we gave her 3/4 LPM of oxygen. It helped a lot, and she breathed oxygen through a nasal cannula for the rest of her life.

Two Years + Two Months Old: Mia began waking up more frequently in the middle of the night, usually in a quiet and content manner, and falling asleep more often during the day.

Two Years + Four Months Old: Mia's G-tube site bled heavily for a couple of days. We tried using liquid bandages and silver nitrate, but they were painful and didn't work very well. We ended up controlling the bleeding by reducing the amount of water in the balloon of her G-tube button, keeping the site dry and applying various aloes and ointments.

Two Years + Five Months Old: One evening, Mia began breathing very rapidly. Her skin was clammy, her heart was racing and she became very sleepy. We increased the flow of oxygen, but it didn't help. About a year earlier, hospice gave us some morphine in case Mia began gasping for air (I had always thought of morphine as a pain reliever, but hospice primarily used it to reduce shortness of breath). We tried it once, but it didn't seem to do much. Ibuprofen worked much better, so we gave her a dose every six hours. Mia's temperature was around 104 degf without ibuprofen and around 101 with it. Despite all of that, Mia appeared to be comfortable and, when she was awake, aware of her surroundings. Her situation didn't change after two days, so I took her to the doctor to look for obvious causes such as an ear infection. The doctor believed that Mia's heart and lungs were beginning to fail - not from infection, but simply from the progression of NPA - and that she probably only had a few days left to live. That afternoon, her G-tube site began leaking more formula than usual. The following evening, I was at work when Mia's bowel movements became liquidy, her voice grew hoarse and her skin turned cold. I rushed home to find Mia comfortably lying in our bed. About half an hour later, while watching us, holding our hands and occasionally smiling, she took a few slow breaths and then stopped breathing altogether. She passed away on October 29th, 2011, in the best possible way: with no pain, no distress and at home.

Over the course of Mia's life, we've come to believe that the best way to fight NPA (and similar disorders) is to promote genetic testing of people who are thinking about having kids. If insurance companies would cover IVF costs for high-risk couples, it could save the industry money in the long run. Even if these diseases are never cured, their incidences can be greatly reduced. Please spread the word.

If you have questions about the disease or simply wish to talk with another NPA parent, feel free to email me at [first initial][last name] (with no brackets).


  1. I am so sorry. My son Gavin passed away on October 30th from type C. It's so hard. We just have to stick together.

  2. I was looking for information about this condition and came across your blog. I just found out I have a relative with this. I'm very sorry for your loss and what you went through.

  3. We learned about your site from OurSonnyLife (Chelsea). I wanted to send a hug out to your family around National Rare Disease Day. Mia was a beautiful girl and we are so sorry for your loss.

  4. What a beautiful little girl! I'm sure she brought so much to your family. I'm so sorry for your loss.

  5. I came across your post while looking for information about starting up a brewery. Being a father of a 22 month old daughter myself I can only imagine how difficult this experience was for you and your family(as I wipe tears from my eyes). I thank you for sharing this difficult experience with us all and know that Mia is in a better place now. She obviously has very loving incredible parents! Sending you and your family love and prayers. I love the picture of Mia and her innocent and beautiful.

  6. Firstly very sorry about the lost of your daughter. I also lost two daughters at the age of 2 ~ 3 months.
    Currently I had a son of 3 months old with same disease. Requesting for advice from any one @ Thanks

  7. Thank you for the beautifully well described events of such a personal and heartbreaking nature. I am a Ped PA and wanted to learn more about this rare but devastating genetic disease. I will remember little Mia adorable face. Appreciate you sharing and offering this personal timeline.