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...