~ 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!!

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

National Rare Disease Day

You may be asking yourself...what is a rare disease? A rare disease is one that affects fewer than 200,000 people. There are nearly 7,000 rare diseases that affect more than 30 million people in America (1 in 10 Americans). 95% have no treatment or cure! Niemann-Pick is considered a rare disease because there are only about 1,500 cases of type A and B worldwide.

World Rare Disease Day is an international advocacy day to bring widespread recognition of rare diseases as a global health challenge. The day is celebrated on the last day of February every year and although it may not sound like much to "celebrate", it truly is a day to recognize and show support for those battling a rare disease. Although it has been beyond difficult to accept Jacob's rare disease diagnosis, it has become less difficult over time to be able to discuss his disease with others (at least without so many tears). As a parent of a child with a rare disease, you have to be a very strong advocate in order to get your child the care that they need. This means you have to talk about the uncomfortable topics surrounding his disease. In researching  Jacob's disease and connecting with Niemann-Pick families/resources, we are helping to educate Jacob's health care providers and in turn, Jacob gets the support he needs.

Today is a day to support Jacob and all the other people faced with rare diseases! Besides dealing with their specific medical problems, people with rare diseases struggle to get a proper diagnosis, find information, and get treatment. The rarity of their conditions makes medical research more difficult, which means treatments and cures are not always available. Sadly this is the case for Jacob and others with Niemann-Pick, but it doesn't have to stay that way. We've written to our congressman and are participating in the Global Genes Project and Fund's "Hope: It's In Our Genes" campaign. Jacob's picture will be included in the packet presented to the National Institute for Health in Washington D.C.

Show your support...share this blog post, post Jacob's picture on your Facebook page, or go to this link and "raise your hand" in support for the 30 million Americans who are affected by rare diseases -- Lundbeck will make a $1.00 donation to support rare disease research (up to a maximum donation of $10,000 for the campaign). The money raised will be contributed to a general research fund managed by the National Organization for Rare Disorders (NORD).

Not The Trip We Planned For...

We had planned to spend the last 10 days soaking up the sun and relaxing on a sunny beach in Hawaii -- a trip we had planned for months. Well, plans changed (dramatically) and instead our family got a "trip" to the ER, followed by a 7-day hospital stay at Children's Hospital. Here's a little glimpse at the last 10 days or so...

Tuesday, Feb. 7th - All packed and ready to go to Hawaii on Wednesday...just one last stop at the doctor's office. Jake had caught a cold a couple days prior and we wanted to play it safe and make sure he was still okay to fly (i.e. no ear infection), so Josh took Jake to see his pediatrician. At 3:00, I received a phone call from Jake's doctor saying that she felt we should postpone our trip since Jake had a fever and given his medical history, we didn't want to take any risks. We were pretty frazzled by the change and a bit emotional because we REALLY needed a vacation! We felt that Jake would be better in a few days, so we re-arranged travel plans to leave on Saturday instead and just cut our trip short a few days.

Thursday, Feb. 9th - Jake was doing worse -- lethargic, feverish and refusing to eat. We were getting worried, so I called his pediatrician's office to schedule an appointment for the first thing Friday morning.

Friday, Feb. 10th - We took Jake to see his pediatrician and were alarmed to hear that he was having labored breathing. The office staff gave him a breathing treatment and Jake actually fell asleep during the 10 minute treatment. He was just so exhausted from not sleeping well the past few nights. The breathing treatment didn't help his breathing much, so we were told to take him to the ER to get evaluated. Once in the ER, the nurses promptly put him on oxygen and took some lab tests (blood and urine). The labs revealed that he had a respiratory syncytial virus (RSV), which is a very common virus that leads to mild, cold-like symptoms in adults and older healthy children. It can be more serious in young babies, especially to those in certain high-risk groups. Jake just happens to be both young and at higher-risk for developing respiratory infections due to his Niemann-Pick disease. After several hours in the ER, Jacob was finally admitted to the 4th floor nursery and was put on continuous oxygen, IV fluids and regular breathing treatments every 3 hours. Needless to say, we cancelled our Hawaii trip : (

Jacob was very sick all weekend and had a lot of difficulty sleeping. When Jake was awake you could tell he just felt so sick and couldn't get comfortable. As a parent, it is very concerning to see your child so sick to the point that they can't even be comforted. We had be warned about the increased risk of respiratory infections, but we had no idea what that truly meant. It was a tough weekend for all of us! Fast forward a few days...

Feeling soooo sick..."Ele" his elephant was the only thing that seemed to comfort him 

Fever starting to subside

Monday, Feb. 13th - Going on six days with a fever, the doctors decided to run some more lab tests on Jacob to determine if he had developed a secondary infection. His chest x-ray came back clear and so did the blood work, so they checked his ears again and discovered an ear infection (actually good news). The doctors immediately started him on antibiotics and asked if they could administer Tylenol instead of Motrin to help with the fever. Being the concerned parent that I am, I contacted his specialist at Mt. Sinai in New York to see if it would be okay to offer him Tylenol, knowing that Tylenol is processed through the liver, we were holding off in order to give his body a break, but she indicated it would be okay to alternate doses of Motrin and Tylenol. Within several hours of antibiotics his fever was gone!!! 

Tuesday, Feb. 14th -  Josh caught some stomach virus, so I quickly sent him home that morning in fear that Jacob might get another virus on top of the one he already had. We just couldn't risk it. I should also add that I had also succumbed to Jacob's cold a few days prior and was miserable with a head cold during his hospital stay. This probably goes down in the history of the WORST Valentine's Day ever! The only good part of the day was when the doctors finally were able to take Jacob completely off the oxygen!!

Balloons from Daddy

Wednesday, Feb. 15th - No more fever and off oxygen! I even got Jake to smile, which he hadn't done in six days!! Jake was still incredibly weak and had lost some weight, so our mission was to get him off IV fluids and eating again. This feat would take two more days as he was very slow to want to eat again. I think he was paranoid that we were trying to give him more of the pain medicine that he hated so much!

Friday, Feb. 17th - Finally discharged from the hospital!!! I think if we had to spend one more day there, we would have gone AWOL! Believe me when I say, that we practically ran out of the hospital. It has never felt so good to be home in our own beds and resting with our little man!

We spent most of this weekend resting and getting situated back at home. Although it really sucks to have to unpack from a vacation that we didn't get to go on, we are truly happy to have Jacob back at home and on the mend. It will probably take Jacob a few weeks to get back to his normal self, but we're confident that he'll make a full recovery. 

This was an incredibly scary and exhausting week for our family. We were faced with the harsh reality of how susceptible Jacob is to common colds and how fragile he is in fighting them off. At the same time, we are being forced to come to grips with the battle that we, as a family, are going to have to fight in order to ward off this disease for as long as possible!

Special thanks for all the meals, phone calls and texts that helped to keep us sane throughout this past week! We love you all so much!!

Lots and Lots of Appointments

Jake's had quite a few appointments over the past two weeks, but we're happy to report that things are looking good!

• Swallow Evaluation -After several months of following up with his physicians offices, insurance approval, and scheduling difficulties with Children's Hospital we were finally able to get Jacob's swallow study completed. The test included an evaluation by an occupational therapist combined with X-rays in the Diagnostic Imaging Department taken by a Radiologist that evaluates food/liquids as they are ingested and swallowed. Jake tends to cough and choke fairly regularly when eating his solid foods, so his doctors wanted to get a baseline assessment and more detailed look to see what difficulties he is/may be having. Our little trooper had to drink the nasty barium concoction again (yucky) and was also given a cookie with barium baked into it, which he surprisingly seemed to like...go figure! The test revealed a mild swallow delay, but other than that everything looked normal! The occupational therapist was actually impressed that he's been eating such a variety of more solid textured food (e.g. grilled cheese sandwiches, chicken, goldfish crackers).
• Head Ultrasound (U/S)- When we went to New York his doctor noticed that Jacob's fontanel (a.k.a. soft spot) on his head still remains fairly open. Typically the soft spot is much smaller and/or closed by 18 months of age, but it can take longer. She requested that we have a follow-up head ultrasound to ensure there was no signs of hydrocephalus, which has been seen in children with Niemann-Pick. We received the results of Jake's head U/S back about a week ago and he does have some excess cerebral spinal fluid in his head , but  the fluid is not on his brain and his body is getting rid of the excess fluid so we do not have to be concerned about hydrocephalus. As a result, his soft spot may take a little while longer to close completely.
• Neurology Appointment - Jacob had his regularly scheduled appointment with his neurologist and he gained more weight! We filled her in on our trip to New York to see Dr. Wasserstein and gave her some information about Niemann-Pick disease. Again, Niemann-Pick is a very rare disease and very few physicians have seen patients with this disease, so Jacob is her first. That said, she remains in close contact with Jacob's metabolic/genetic physician at Stanford and his gastroenterolgist so in a sense she is Jacob's primary care specialist. It will be important for her to closely follow Jacob as she will be able to keep an eye on the neurological symptoms he may experience as the disease progresses. For now, he appears to be making some headway in his communication skills and is being more assertive on queuing us for when he wants things (e.g. reaching for his sippy cup, making noises to get our attention) -- good signs that he's still learning some new skills.
• Physical Therapy Evaluation - After speaking to Jacob's infant development specialist and case manager at the Regional Center for the East Bay, we decided that it might be beneficial to bring in a physical therapist once a month to join us for Jake's therapy sessions. Mainly, we want to get some different ideas and approaches to continue his motor skill development. It was a great session and we learned some new things to try in order to keep Jake engaged and supported in sitting and weight bearing positions. Our emphasis has been to focus on stronger sitting positions since he still can't sit independently and seems to be having more difficulty with sitting lately. We're currently working on some of the new therapy ideas, so stay tuned...

As you can imagine, running around to all of these appointments and partaking in all the therapy can make you quite tired. Here's a super cute pic that I caught of Josh and Jake one morning as I was leaving for work...

Like father, like son...

It's Been A While...

After our trip to New York, we hopped right into the holidays. Between family functions, Josh's peak season at work, back-to back colds for the little man, and a baptism, we have neglected to provide any blog updates. I'm sure you can sympathize...

 On the health front -- we met with Jacob's GI physician in late November and were able to talk with him about some of our concerns with his daily (mostly early AM) vomiting and minimal weight gain. His vomiting is caused by the pressure of his enlarged liver and spleen that squish the stomach, which sometimes causes him to throw up. He doesn't seem to bothered by it, but we need to keep an eye on it so he does not lose weight. If he begins to fall below the normal weight range for his age, we will need to consider a gastrostomy tube (G-tube) for feeding. Jacob's GI physician took the time to show us an actual G-tube and walk us through what the procedure and maintenance would require. He also ordered an upper GI test so that we could see if there were any blockages or abnormalities. We also have a swallow study scheduled for this coming Friday, which will help evaluate his abilities for swallowing food and establish a baseline for future comparison.

Post GI visit and upper GI test - minus the nasty barium that Jake had to drink for the test, we're happy to report that his upper GI revealed completely normal function. Good news! For now, we have replaced all formula bottles with Pediasure (a.k.a. "Jake's vanilla milkshakes"). It's pretty costly, but we are very lucky to have a friend who works for the company that manufactures Pediasure and she orders it for us for half the price. Thanks Tara! Jacob's vomiting has seemed to subside substantially over the past several weeks or so and at his 15-month appointment Jake had gained a full pound in a month! Great news!!

1st Haircut- Bye, bye baby mullet!! Josh was finally able to come to grips with the fact that mullets are NOT a good look on a one-year old (or anyone for that matter). Auntie Hope came to the rescue and gave our handsome little guy his very first haircut.

Jake checking out his new hairdo

 Cold(s) - Jacob managed to go almost a full year without a cold, but the winter season came with lots of germies. Jake caught a head cold right before Christmas and shortly after getting rid of it caught yet another head cold. The "boogy sucky" was close by so that we could ensure his cold didn't move into his chest. He had a difficult time eating with his stuffed-up nose and we all had a few sleepless nights, but all-in-all he fought the colds off pretty well.



Testing out his new ride



Christmas - we had an absolutely wonderful Christmas!! It was so much fun to see Jacob's excitement when opening presents. Jake's anxiety around strangers (anyone that is not momma or daddy) has gotten a lot better, so he was more at ease around people at our large family functions. His visit with Santa went over a lot better this year too! In fact, he was so good this year that Santa brought Jacob a super cool red trike for Christmas. He LOVES taking rides to the park and even quick spins around the house!

Baptism - last Sunday was a very special day for our family. We were finally able to get Jacob baptized. It was something that we have wanted to do since he was born, but with everything our family has endured over the past year it unfortunately fell to the wayside. With receiving Jacob's diagnosis of Niemann-Pick, our desire to have him baptized became even stronger and our church's deacon arranged to hold a special baptism just for Jacob. We feel so blessed to have Jacob in our lives and even though his time with us may not be as long as we would hope for, we want to do our best as parents to meet his spiritual needs as well.

Pre-baptism pose with Momma and Daddy

Jake's Godparents: Uncle Joe and Auntie Jenee

Little man goes to the big city (New York)

Jacob did fantastic on our trip to NYC! This was a significant trip for our family with lots of FIRSTS for our favorite little one-year old:

1^st ride on a plane, in a taxi and on the Subway

• 1st taste of New York pizza

• 1^st glimpse at the Statue of Liberty and 9/11 Memorial

• 1^st trip to FAO Schwarz toy store, including a chance to play on the Big Piano!

• 1^st opportunity to see Dr. Wasserstein, a leading expert in Niemann-Pick Disease

 

Of course, our trip to New York wasn’t all fun…

Given Jake’s early onset and development delays, we were told by the genetic specialist that Jake’s symptoms appear to be presenting themselves in a more aggressive form of the disease – not the most severe, but also not the mild version of Neimann-Pick. We were also told that young children with Niemann-Pick often don’t progress developmentally beyond one-year of age, but were not given real limitations on what Jacob will be able to achieve. The most positive form of feedback that we received came from the neurologist who told us that Jake is more advanced (skill wise) than most children his age with this disease. Both physicians encouraged us to continue working on furthering Jacob’s development and to keep up with the good feeding regime.

It’s hard to put into words the feeling that you get when hearing this type of information, so for now I will simply reiterate that Josh and I have every intention of doing everything within our means to provide Jacob with the best LIFE possible.

Two biggest take-a-ways:

1.) Nutrition – it will be important for us to continue to feed Jacob multiple small meals a day to ensure adequate calorie intake because his enlarged liver and spleen demand a lot of energy (calories), while at the same time being faced with squished space in his stomach. As his disease progresses it is likely that he may need a gastrostomy tube (G-tube) to provide an alternative way of feeding, but we will cross that bridge if/when we come to it. For now, Jacob is very interested in trying new foods and continuing to do well with self-feeding.  

2.) Keeping him as healthy as possible – Jake’s disease puts him at risk for developing respiratory issues, so it will be very important for us to keep him as healthy as possible and avoid exposing him to anyone who is sick (especially with coughs/colds). This means no snuggles if you have the sniffles – sorry!

Our trip to New York was accompanied by a mixture of emotions, but overall, we are very glad that we took the next step and enrolled Jacob in the natural history study of Niemann-Pick Disease. It breaks our hearts to hear about the progressive decline in health that our precious boy will inevitably face and to know that there is no cure (yet) for this horrible, horrible disease. Even though we knew this trip would not change the prognosis of Jacob’s disease, we are reassured in knowing that we’re doing everything possible to provide Jacob with the care and support that he needs. Every bit of information brings us one step further… in better understanding the disease, bringing awareness and hopefully finding a cure.

Special thanks to my parents for making the trip with us ~ it was nice to have the support and two extra pairs of hands. We also greatly appreciate all the calls, texts and e-mails that we received before/during our trip. Your well-wishes and prayers truly make a difference!