New Update on Gavin!-The Middle of Winter with Spring Around the Corner

It’s been a couple of months since I have last posted an update on Gavin’s blog- my apologies for not staying on top of it as I should be; something always seems to come up, and I’m thinking to myself, I should be on top of it as I managed to update Gavin’s blog almost everyday when he was in the PICU in Washington DC over the summer, but nonetheless, my to-do list keeps on growing and never seems to stop. So here I am, writing a recent update on Gavin with winter almost more than half way over. The holidays were filled with great family, friends, and of course lots of delicious and oh-so dangerous carb-loaded food; but luckily Ferd and I kept with our training for our first half marathon which really helped get us through the winter and helped us build strength as Gavin is getting so much heavier weighing 53 lbs at current. The tough part is always lifting him in and out of the car, in the shower, and pretty much anywhere where he needs to be transferred; Ferd and I do almost all of the lifting of Gavin for our nurses so that they don’t get burnt out. On January 22nd, Ferd and I completed our first half marathon in Carlsbad, CA. I was able to finish 13.1 miles of non-stop running at 2 hours and 36 minutes-not bad for first timers right? I really was dying at mile 11, but I kept thinking about how Gavin is always fighting every day to breath and that truly was my motivation to head to the finish line. Though 2012 remains to be a hopeful year, Gavin had it very rough on New Years day. The morning of January 1st, Gavin was on antibiotics as he had a mild case of Pneumonia.

That same day, Gavin was introduced to an oxygen concentrator machine at home and has been on continuous oxygen since as his sleep study indicated that there was a desaturation in his oxygen levels while asleep. Back in October, Gavin also experienced major tongue-biting episodes that were so uncontrollable and undeniably painful. We’ve tried almost every remedy including increasing his seizure medication to using a mouth guard (even if it was not recommended by our doctor), but still nothing really helped. His poor little tongue was so badly blistered and chipped, but has slowly recovered. Since Gavin has been on oxygen, the tongue-biting has not been occurring as frequent thank God! Gavin for the most part continues to stay strong and occasionally surprises us on some days not needing oxygen at all. His little sister, Audrey Bella, is so sensitive to her brother’s needs that she has become such a great help from wiping Gavin’s mouth to pouring Gavin’s breathing medications into the nebulizer. Through it all, we try to live a “normal” life with Gavin as much as we can taking him to the beaches, parks, restaurants, birthday parties, and even on road trips to Vegas to visit grandma and grandpa. I am not going to lie, it is really tough traveling especially lugging all of Gavin’s medical equipment, but we have managed to adapt. On a side note, Dr. Tifft, who is head of the natural history studies at the NIH for Tay-Sachs Disease in Maryland whom we met over the summer, came to see Gavin 3 weeks ago in San Diego while in town for a medical conference. She briefly updated me on the progress of gene therapy and from the sounds of it, she is very optimistic of a possible clinical trial being initiated in late fall to early winter of 2012.

Still, nothing is definitive and we can only pray that the possibility of gene therapy will come much sooner. I will be posting a recent detailed update on gene therapy from the Tay-Sachs Gene Therapy Consortium on my next post. In the recent months, I have been so emotional and saddened as 3 of our dear friends from the TSD community have lost their beautiful angels from the disease. It is so excruciatingly unbearable, but this is the reality that TSD families face. I can only trust God and leave Gavin’s fate in God’s hands. I know that Gavin will continue to fight hard in honor of his friends who have earned their angel wings despite the fact that the battle is getting tougher. He is very strong and continues to be a brave warrior. Please continue to lift us up in thoughts and prayers. Thank you very much for reading this very lengthy update. If you are in the San Diego area, do not hesitate to give us a call. Thank you again!

Lyndsey Garza

Jan and Ferd,

I wanted to express how heartfelt I found your entire blog, and in especially, your post “The Middle of Winter with Spring Around the Corner”. It’s obvious you have gathered strength from your son Gavin’s diagnosis of Tay-Sachs, and I find struggle beautiful when strength is gathered. I have great optimism that the possibility of gene therapy will come soon to Gavin’s aid.

I also wanted to share with you a similar story about Emily Rapp, the mother of one-year-old Ronan, who is also diagnosed with Tay-Sachs syndrome. In the clip, Rapp actively speaks out about Rick Santorum, Republican presidential candidate, and his stance on prenatal (genetic) screening.

What you might not know about Santorum himself, is he is a father to three-year-old Isabella, who was diagnosed with Edwards syndrome. Like Tay-Sachs syndrome, Edwards (or Trisomy 18) is a genetic disorder with the grim survival rate of only 10 percent after their first birthday. The syndrome consist of an extra third chromosome 18, interferes with normal development and can cause clenched hands and feet, underdeveloped mental capacity and low birth weight.

As you might know, prenatal screening can detect diseases like Tay-Sachs or Edwards syndrome.

I thought you might find the following video clip about Ronan and his mom Emily interesting. I hope you will embed it into your blog and maybe in the future, we could swap blog roll links and widgets.

“Mother Challenges Santorum on Abortion Views”

http://www.newsy.com/videos/mother-challenges-santorum-on-abortion-views/

The clip does a great job of concisely sourcing and compiling news reports to emphasize the scope and context the content is being reported on. Newsy synthesizes and analyzes news into neutral comprehensive video clips showing a variety of opinions on the same topic.

Thank you so much for your time, consideration and input. Your blog is an absolute inspiration of positivity.

Lyndsey Garza Community for Newsy Twitter: @newsyvideos

http://www.facebook.com/newsyvideos