It's Been One Year

It's been one year since we recieved Jake's official diagnosis of Niemann-Pick type A/B.

One year...since our world was turned upside down.
One year...since our hopes and dreams for our son and for our family were taken away.
One year...since our hearts were practically crushed into a million pieces knowing that we would one-day have to face the loss of our most precious little boy.

Jake was only 8 months old when we received very unexpected news about his health. During one of his routine check-ups, Jake's pediatrician noticed he had an enlarged liver and spleen. We were immediately sent to the local Children's Hospital in Oakland to have a number of labs drawn. By the time we pulled into our driveway, his pediatrician had called to let us know that his liver enzymes were above the normal level [May 2011]. At that point, we were told that his hepatosplenomegly (enlarged liver and spleen) could have been caused by so many things ranging from an infection, blood disease, or any number of conditions. I immediately went on to Googling potential causes, which was probably the worst thing that I could have done. Some of the potential diseases I came across seemed so unimaginable, especially when I started reading about metabolic diseases with strange names such as Gauchers, and Tay-Sachs. Some of Jake's development delays (difficulty holding head up and inability to withstand tummy time for more than 2 minutes) and feeding difficulties seemed a bit too familiar when reading about these diseases, so I decided to stop researching until we met with a pediatric gasteroenterologist (GI) to pursue more diagnostic tests.

Post-blood draw. Jake kinda looks like Rocky with his hands all wrapped up. We hate that he has to get so many needle pokes and have since learned some tricks to avoiding multiple sticks.

Within a week, we had met with a pediatric GI and Jacob underwent further lab work, as well as had an ultrasound of his abdomen. His liver enzymes had dropped a bit, which his GI specialist indicated to be "stable". We were still uncertain as to what was going on with our little man and took him in for more lab tests the following week. He's a smart boy and became very leery of anyone wearing a white lab coat. After numerous blood draws and lab tests, his doctors worked on eliminating possible diagnoses and his GI physician determined that a needle biopsy was needed to obtain a liver sample, which would allow for further testing in the least invasive way possible [June 9th, 2011].

Groggy from anesthesia, but cheerful and reaching for Momma's camera. You can see the lines where they marked around his liver to ensure a safe needle biopsy

After several long weeks of waiting, we met with the GI specialist and received the results of Jacob's liver biopsy [July 1st, 2011]. We did not receive the news we were hoping for. Based on the initial analysis of Jacob's liver samples, they determined that Jacob had some sort of storage disease. His cells were storing excess lipids (fatty substances) that were collecting in his liver and spleen. We were told that the excess lipids were most likely caused by a deficiency or overall lack of a certain enzyme that assists in breaking down the fats. At the time of his appointment, his physician was still unable to give a definitive diagnosis; however he had narrowed it down to a few different possibilities. All three possibilities were very serious conditions, with varying availabilities of treatments (if any). The most likely of the three was a disease called Niemann-Pick, one of the "unimaginable" diseases that I had come across in my initial research.  

From there, we took Jake in for another lab test to help determine the amount of acid sphingomyelinase (enzymes) Jacob had, which would hopefully help clarify the storage disease Jake had. As next steps, Jacob was also referred to several specialists to help get a definitive diagnosis:

1.) Metabolic/Genetic specialist at Stanford

2.) Neurologist - to get a baseline assessment

3.) Ophthalmologist - to identity if Jacob has a red spot on his retina, which is a symptom of specific storage diseases (mainly Niemann-Pick)

On July 7th, we met with the ophthalmologist and were told that Jacob did in fact, have the red spots in his eyes. As you can imagine, we were pretty much devastated to hear this news because it was indicative of Niemann-Pick, which is a severe disease. I left that appointment sobbing as I held Jake in my arms and by the time we got to our car, Josh and I just cried our eyes out because we realized what this meant for Jake and our family. In our minds, it was the worst possible news that any parent could ever receive.

From there, I worked relentlessly to expedite getting an appointment with the Metabolic & Genetic Specialist at Stanford, so that we could be very proactive to ensure that Jacob remained as healthy as possible. We were optimistic because he was feeling good and growing well, plus he had just learned to roll-over, which he hadn't done before.

The next couple weeks were a whirlwind of doctors appointments combined with a great deal of emotions. Jacob had his routine 10 month check-up, as well as his appointments with the Metabolic & Genetic Specialist at Stanford and a pediatric neurologist affiliated w/ Children's Hospital in Oakland. We still did not have a definitive diagnosis, as we were still awaiting the results of his genetic testing that was sent out at the end of June, which take 6+ weeks because they are sent out to a special lab for detailed testing. The doctors were still leaning towards a diagnosis of Niemann-Pick (type A or B). In the meantime, we were comforted to know that the specialist at Stanford was well-connected with metabolic experts across the world and was very knowledgeable in clinical trials/research across the country that focus on metabolic diseases such as Niemann-Pick. He had also worked with several children/families with Niemann-Pick and similar conditions (great news considering the rarity of the disease). Living in the Bay Area, we felt fortunate to have access to such amazing physicians.

Jake's neurologist was also very proactive in getting us connected with all the support services that are available and encouraged us to begin connecting Jacob with these services as soon as possible, so that we could readily get the support our family might need. Of course, we began making calls almost immediately to get the process started. Although it was a very emotional couple of weeks for us, we were glad to be getting answers to the many questions that we had about Jacob's health. We even met with a wonderful genetic counselor who gave us a "Genetics 101" overview that helped explain the genetic abnormality that causes these types of conditions. Let me tell you, that it was very overwhelming to try and understand a disease like Niemann-Pick when you can't even make sense of some of the literature available.

We needed a little fun in our lives, so we took Jake "the Snake" to the Zoo. Those are fake snakes from the gift shop in case you were wondering.

In mid-August, we had a follow-up appointment with the metabolic & genetic specialist at Stanford and after months of doctors appointments, labs, and a biopsy…we finally received a diagnosis for Jacob. Although it still seems unimaginable to accept, we were told that Jacob did in fact, have Niemann-Pick disease. Jacob’s genetic testing revealed that he has one gene mutation for type-B and another gene mutation that had never been reported. His initial enzyme testing was inconclusive because of a bad blood sample that was drawn, but we later found out that the sphingomylinase (ASM) enzyme his body is producing was only around 3%.

At the time, we felt that this was actually somewhat good news because a type-B diagnosis typically means a less severe form of the disease with little to no neurological symptoms. Due to the early onset of Jacob’s symptoms (enlarged liver/spleen, red spots in eyes and muscle weakness) they originally thought he might have type-A. That news gave our family great hope that he would not have to endure so many of the disease side-effects that we’ve had been reading about.

As for the unreported gene mutation, it meant that they had never seen this particular mutation before. This also meant that there was a chance that the mutation could have occurred for the very 1st time in Jacob. Although it would not change Jacob's diagnosis, it would mean that we would not have to worry about the threat of this awful disease in any future children. As next steps, Josh and I underwent genetic testing (blood test) to see what gene mutations we had. Regardless of the blood test findings and disease type, the progression of Jacob's disease still remained largely unknown. Niemann-Pick is a rare disease and the unreported gene mutation created even more unknowns for us. We had Stanford add Jacob's gene mutation to the disease registry so that hopefully, we could help some other child and his/her family somewhere down the road. We later found out that Jake inherited the "unreported" gene mutation, so unfortunately it was not a fluke first time occurrence. This meant that any future children of ours would have a 25% chance of having Niemann-Pick. Yet another devestating blow to our family.

As far as treatments are concerned, there are very limited treatment options for Niemann-Pick at this time, with care being mostly supportive. We began the process of reaching out to the National Niemann-Pick Disease Foundation to learn everything we could. As a result of reaching out to other Niemann-Pick families, we also learned that Jake's so-called "unreported" gene affected another child name Kaitlyn, who had type-A Niemann Pick. Thus, we finally knew that Jake had an intermediate form of the disease -- type A/B. We were again devastated to know that he would probably have a more severe form of the disease than we originally thought, which would likely impact him neurologically as well.

A few days after Jacob's "official" diagnosis in August, we took off on a family camping trip. We needed an escape from reality and wanted to focus on enjoying our little man!



Our lives revolve around this very special boy, who brings so much joy into our world!

As we look back on the last year and all that Jake and our family have endured, I am reminded of a quote that I came across when we first started realizing that Jacob most-likely had a serious health condition...

"The greatest part of our happiness depends on our dispositions, not our circumstances"  -- Martha Washington

This quote really resonated with me and I often refer to it as a reminder to find the joy in every day. Josh and I have focused our efforts on giving Jake the most wonderful life possible, filled with an abundance of love and support -- he deserves it! Although we wish more than anything in this world that Jake did not have this horrible disease, we are so very grateful that we were chosen to be his parents. For someone who has never spoken a word or taken a step, he has taught Josh and I more and guided us through this past year more than anyone else has in both our lifetimes.We love our little man more than words could ever express and we treasure every moment that we have with him.