We originally created this blog to keep family and friends updated about our little man Jacob, who was diagnosed in the summer of 2011 with a rare, life-limiting genetic disease called Niemann-Pick (type A/B). Jacob earned his angel wings on November 15, 2012, but remains our daily inspiration and constant reminder that we must live in the moment and fill each day with JOY, LAUGHTER and an abundance of LOVE.

Thursday, March 22, 2012

~ Heaven Has Another Angel ~

Our family is heartbroken to hear that the most amazingly inspiring little girl, Kaitlyn, passed away earlier today. Kaitlyn persevered against Niemann-Pick disease (type A) and has had a profound impact on the lives of many; allowing people like us to refocus on the most important things in life: LOVE & FAMILY! 

I reached out to Kaitlyn's mom, Deanna shortly after receiving Jacob's diagnosis. I had come across a posting that Deanna left on the Niemann-Pick Facebook page about Kaitlyn's gene mutations. Coincidentally, Kaitlyn has the very same gene mutation that Jacob has. At that point we did not know what type of Niemann-Pick Disease (NPD) that Jacob had because one of the gene mutations (E352X) that they found was "unreported", which meant they could not classify his NPD type. Knowing Jacob's disease type would allow us to have a better idea of the severity of his disease -- the difference between a few years of life versus the potential to live until early adulthood. Needless to say, I was very anxious to speak with Deanna and began connecting with her via Facebook. At the same time I began following Kaitlyn's blog for regular updates on how Kaitlyn was doing. Over the course of the past six months or so, I have been inspired on a daily basis by the abundance of love and amazing strength that Kaitlyn and her family share. While it has been very difficult at times to read some of the posts, there have also been countless life lessons and inspirational messages that have been taken to heart. Most importantly, Kaitlyn's journey is an affirmation of the infinite love and devotion that exist in our world. 

Although we have never met the Bourgeault family, they have earned a very special place in our hearts and we mourn the loss of their beautiful daughter.

Sometimes we need a little reminder of how fortunate we are to have good health and the love of those around us, I encourage you to visit Kaitlyn's blog http://niemannpick.blogspot.com/ and be inspired!!

Saturday, March 17, 2012

Little Changes Mean Big Changes

The last several weeks have been pretty rough on our family. While we have had great hopes that Jacob would rebound back to his normal self after his recent hospitalization, we have seen only little changes. Jacob had a lot of upper respiratory congestion following his release from the hospital, which continued to cause him to have a persistent piggy-like sound in his throat and very labored breathing. We tried everything to relive the congestion...saline, nose frida, humidifier, elevated mattress, vapor rub, warm steam...you name it and we tried it!  We became very worried about his labored breathing so we took him to the doctor (again) about a week ago. Unfortunately, all the congestion caused fluid to build up in his right ear, so he ended up with another ear infection. We started him on amoxicyllin right away to hopefully avoid a larger flare up. By Friday he had developed a rash, which indicated to us that he was having an allergic reaction and so we stopped his meds. A call to the doctor confirmed our observations and we were informed that Jake is most likely allergic to penicillin based medicines, so we started him on another antibiotic. By Saturday night, he developed a fever and was basically miserable the entire weekend. Despite our best efforts to comfort him, he was pretty whiny when he was awake and has been having difficulty during meal time.

By Tuesday his fever was gone, but as of today he still remains very lethargic and sleeps a lot. He has also been pretty disinterested in play time and has a poor appetite. At this point we are very concerned about his overall well-being. This is simply not what we expected. It has been a daily struggle trying to get even the smallest of smiles from Jacob to let us know that he his feeling a bit better and as a parent, it is very worrisome to see your child so uncomfortable.

Fortunately, this past week's hectic schedule full of doctor's appointments actually turned out to be a good thing, because we have begun discussions about interventions and are working on a care plan that will hopefully allow Jacob to get proper nutrition and regain his energy.

18-Month Check-Up - We met with Jacob's pediatrician earlier in the week. Jacob has regained only 1 pound of the 2+ that he had lost, but he has not yet fallen below the normal weight gain curve -- just on the VERY low end of it. His doctor was also concerned about his energy level and pale skin tone, so she checked his iron levels and we determined that he is anemic.

So tired he fell asleep on the exam table
GI Appt - We met with Jacob's gastroenterologist on Wednesday and he was concerned that Jacob's illnesses and energy level has really impaired is ability to get proper nutrition. He recommended starting Jacob on iron supplements (liquid drops) to help with the anemia. After hearing about the feeding difficulties that we've been having with Jacob, his doctor also recommended placement of a gastrostomy tube (G-tube), which is a tube inserted through the abdomen that delivers nutrition directly into the stomach. This would allow us to continue feeding Jake by mouth, but offer us a back-up option to give him the proper nutrition he needs to grow. Josh and I agreed that it is time to pursue the G-tube and have scheduled a consult later this month with a surgeon at Children's Hospital to plan the procedure.

Regional Center - We had Jacob's 6-month eval to determine his continued eligibility for services. Currently, the Regional Center provides Jacob with occupational therapy twice a week and monthly visits with a physical therapist in our home. Given his condition, he is now eligible for "status 2" services and the Waiver program. This means he will continue getting his therapy, but he will also be eligible for supplemental insurance to help augment any care or equipment that our insurance might not cover. Additionally, Jake is now eligible to receive respite care that will allow us (if/when needed) to have someone come to our home to help care for him up to 25 hours a month. There is also an option for nursing respite, which would include a trained nurse being able to come to our home. This would be particularly helpful with medication administration, monitoring and care for things like a G-tube. We haven't really considered if/how we would use this service, but it's good to know that we have the option available to us. Josh and I both feel very strongly that we want to be the ones to provide Jacob's care, but are relieved to know that we have extra support as needed so that we can also continue to work.

It was a bit overwhelming to digest this all in one-week, but we know in our hearts that we are now on a path to pursuing a care plan that will provide Jacob with the support he needs, as well as restore some sense of normalcy back into our lives. These are some big changes that we are considering, but we are learning to embrace the change and do whatever is necessary to improve Jacob's health.
Appropriate for St. Patty's - Jake's sticker from his doctor's appointment