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.

Wednesday, July 11, 2012

Breathing Easy

On Monday, Jake had an appointment with his pulmonolgist to review the results of his sleep study. I have to say, it was one of the best appointments that we've been to in a while!! We received good news that his sleep study actually revealed fairly good results! Yay! Yay!!!

He does have slight apnea (suspension of breathing) and abnormal hyponea (episodes of overly shallow breathing or an abnormally low respiratory rate) while he sleeps. In fact, Jake had 33 instances of hyponea the night of his study, however his oxygen saturation levels remain in the high 90's for the most part and his carbon dioxide level are within normal range. This basically means he's not being deprived of oxygen, which is what we feared. His muscle weakness has caused his throat muscles to relax more over time, which is why his air exchange is irregular -- it also explains his loud lumberjack snoring! The apnea/hyponea causes Jake to wake up quite a bit while he's sleeping, but at this time his doctor does not feel the need to start him on any oxygen since his oxygen saturation is so good. Again, YAYYYYYY!!

We discussed Jacob's difficulty with the altitude when traveling to Lake Tahoe and his doctor advised that we take precautions when traveling to higher altitudes. He recommended that we spend a night or two at a mid-point elevation before moving to higher elevations. The doctor also advised that we not take Jake on airplane rides since he would likely experience the same altitude sickness and it's too risky to be that far away from medical care when in flight.

We were planning to travel to Tennessee in August for the annual Niemann-Pick Disease Family Conference, but given Jake's current health we had already made the decision not to attend. I REALLY wanted to attend the conference to learn more about the disease and meet some of the other families, but we know it's just not feasible to travel with Jake that far (8+ hour travel time). Our Tahoe experience coupled with the doctor's recommendation not to fly with Jake only re-affirms that we made the right decision. For now, we are just so very thankful that Jacob is breathing well enough on his own!

Blurry, but I caught a half-smile on camera : )



  2. Great photo!! So glad Jake is breathing well.

    Nanci Glassman

  3. I'm so glad you got good news about his breathing at night and that he won't need oxygen! I am glad you found out about flying before your trip or that could havge been a very hard trip. I think one of you should still go to the conference. I've worked at rare disease conferences with Corp Kids and they are amazing!!! I have seen so many families gain so much knowledge and just feel more at ease meeting other families that are going through the same thing they are.

  4. Awesome news for Jake and you. Too bad you can't take Jake to the conference, but perhaps one of you might go. I think some of the other NP families do that. Either way, your decision to keep him home is certainly the right one for your family. Thanks for keeping us up to date with Mr. Jake! He is a joy to so many of us who have never even met him!

  5. YAY!! Good oxygen saturation is awesome!! Love the 1/2 smile pic...very cute!

  6. Happy you have some good news! As far as traveling to TN, I do it about every 4 months and it is a lonnnnggggg trip, even if you aren't delayed. August is miserable there, hot & humid. Don't think Jacob would enjoy it, I didn't! Other times of the year TN is gorgeous!

  7. What about a train ride to the conference? Probably too long but just a thought. I think one of you should go as well. Glad to hear the positive results from his test! Yay

  8. so glad to hear good results! Sorry I won't meet you in Nashville.

  9. Kathy I'm so sorry your grandson has to endure such a scary condition but an happy to hear he's doing well. I saw something on "Doctors" today. try checking online to see that segment.

  10. What wonderful news, yay!! I'm so happy you received good news, one less thing to worry about. Jake is such a strong little man and he has an amazing set of parents to be by his side. I always have Jake and your family in my prayer. I hope you continue to receive good news at every doctor appointment.
    With lots of love,
    Teresa Chavez & family

  11. So happy to hear this WONDERFUL news!! What a relief.

    What a great picture! It's so nice to see that handsome face and those gorgeous doe eyes!

    Miss you guys!

  12. Sending love and prayers for Jacob!

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