Rubino's

(About SMA & Reece)

    

Reece Rubino who is only a year old, was diagnosed with Spinal Muscular Atrophy (SMA) type 1 at 2 months of age. This type is the most debilitating form of SMA.  Spinal muscular Atrophy is a motor neuron disease affecting the voluntary muscles that are used for activities such as holding your head up, crawling, walking swallowing, neck control and even BREATHING.  Though it is a rare genetic disorder, 1 in 40 people are genetic carriers.  This condition is the #1 genetic  killer of babies under the age of 2 years old.  SMA CAN QUICKLY PARALYZE A CHILD FROM HEAD TO TOE. There is no CURE!

Reece is currently in a clinical trial at Stanford University in California.  The drug that is being tested for SMA is called Hydroxyurea.  This drug is improving Reece's quality of life and giving SMA a defense from taking over his body. Some of the major advances we have seen in Reece is his ability in having movement in his hands, arms, neck and head.  Reece is also able to eat pureed foods.  His smile and facial expressions have not been robbed by SMA and he enjoys interacting with his siblings. Although at this time he is unable to crawl or even sit up, Reece loves to play with cards, stack blocks and his two favorites activities are, Thomas the Train and basketball. Reece loves to play with his brother and sister, who adore him completely.

Reece has had only 2 hospital visits to date since his birth.  The first trip to Children's hospital was pneumonia and had a partial infiltrated left lung.  The second time was a bit more scary.  Reece was in his mommy's arms and his oxygen intake started to drop and he turned blue. Once taken down to ICU at Children's hospital he slowly came back to us. The staff determined he had a type of  Para flu. Once the SMA gets more aggressive, it will be difficult for Reece to release Carbon Dioxide. Did you know that a simple cold in Reece could be fatal? 

July 2007 - We just  returned from our monthly flight back home from Stanford. Reece lost consciousness.  Reece's dad performed rescue breathes on Reece until the paramedics arrived.  God gave us back Reece. We were taken to a satellite hospital of Children's.  Once doctor's made sure Reece was stabilized, mom and Reece were transported by ambulance to Children's Hospital in Denver.  While we were there, doctors performed an EKG on Reece.  The EKG showed many dips in Reece's oxygen level,  they called this condition Chronic Pulmonary Hypertension.  The doctor informed us to stop feeding Reece orally, because this may be what is causing the Pulmonary Hypertension.  After a few days, Reece was released and happy to be back home.    We still don't know why this happened. Jeff & Lesa performed their own test to determine if feeding Reece is dropping his 02 level.  It showed the OPPOSITE.  Reece oxygen sat increased.  During Reece's follow-up appointment, the doctor informed us that he was okay with us continuing to feed Reece orally; as long as we understood by doing this it could be life threatening for Reece. There is always a risk of aspiration.            

All SMA type 1 babies lungs are underdeveloped. Because of this, SMA babies are belly breathers, they use their diaphragm to breathe.   Reece is on a bi-pap machine at night (50% assisted breathing ) this helps him to expand his lungs. He wears a pulse ox at night, (reads his oxygen intake and his heart rate). Respiratory therapy includes using a cough assist machine to help him cough, a suction machine to help with secretions,  there isn't enough strength in an SMA child's lung to remove these secretions.  It is very important for mom and dad to perform Chest Physiotherapy, this technique help move a his secretions internally and to keep the secretions from going into his lungs. 

Contributions from Reece's Round-Up will help offset the financial burden of existing Durable Medical Equipment bills, respite care, nursing,  special needs equipment, costs of transportation to California and the cost of the drug once Reece completes the study and/or upcoming studies in the year to come. 

Thank you in advance for your generous support to help keep our son with us.  Keep those prayers coming.

November 2007 - Reece has completed the clinical trial.  Reece's parents have decided to keep Reece on the hydroxyurea. Therefore, the Rubino's must continue to travel to Stanford every 3-4 months. This treatment  protocol specifies a particular compounding procedure which will not be released until the study is complete. This will not occur for about another year and half.  Dr Wang can not prescribe hydroxyurea to Reece without seeing him on a regular basis. Reece has shown remarkable improvement in motor skills and respiratory health since July. Reece is now 2 years old, eating pureed foods orally, starting to produce sounds, and breathing on his own 50% of the time.

Since Reece's study has been completed, the Rubino's are responsible for the clinic visit, laboratory testing and paying for the drug itself. Dr. Wang has signed up to be a Medicaid provider.  The Rubino's are praying that the Medicaid of Colorado will cover most or all of these expenses.      

2008

Our family has been blessed that we had a wonderful Christmas Season with Reece.  Reece has been approved for a power wheelchair.  Medicaid of Colorado has denied us only one necessity of that chair, (manual emergency switch) which will cost us about $960.00.  We are looking into purchasing special needs vehicle buy in spring or summer. We need to make many home modifications for Reece to our home. (a ranch home would be nice)

Reece weighs 24lbs. He still loves ALL sports, especially basketball. He is starting to produce consonant sounds.  His vocabulary includes words such as no, yes, up, Na (for Genna) and mom. Reece has OT, PT and Speech Therapy twice a week.  Reece continues to get a RSV shot monthly.

Reece's next appointment with Dr. Wang is March 20, 2008.  Please say those prayers that Reece does well while he travels.  

March 2008 - We took Reece to Children's Hospital twice the week of March 3rd. Reece's oxygen levels were low and he seemed really labored in his breathing.  We spent the day at Children's Hospital ER room for observation on Wednesday & Friday.  We were sent home both days. It appears that Reece's oxygen is low when he falls into a deep sleep. We will be scheduling a sleep study to determine  2 things, first, if Reece can get rid of his carbon dioxide level when he falls into a deep sleep and secondly, to determine if Reece's bipap settings need to be adjusted.

The clinic visit with Dr. Wang went well.  He confirmed that sooner than later for us to schedule the sleep study.  Dr Wang is amazed at Reece's strength.  Reece spoke a few words to Dr. Wang. Reece did very well on the flight, maybe because his brother and sister came with us and he was excited. He slept only a bit on the outbound flight. Our next appointment with Dr. Wang is on July 10th.  Thank you for all your prayers. 

Reece received his power wheelchair.  His positioning in the chair is so great!  Now he can chase JP in the cul-de-sac.  When we first received it he positioned himself directly under the basketball hoop!  IMAGINE THAT!  The CES Waiver staff came out to evaluate our home for modifications. This is a very lengthy process. The paper work I received advises us that it could take almost a year to complete. What the state pays for is VERY basic. We have to pay the difference to make Reece's QUALITY of life better. I understand that rules are set for a reason.  However, rules are meant to bend, based on a child's needs. Too bad the state does not come and observe my day for 8 hours. Federal and local funding make it easy for others to take care of an ill-child!  Well, what about the family who wants to take care of the child.  Very limited benefits are available to us based on procedures already in place.  

                

Reece has lost his ability to eat orally. He still can eat a lollipop and taste fruit drinks, especially Squeeze. (a local smoothie franchise here in Castle Rock.)     

We are hoping to get Reece into a pre-school program by way of Videoconferencing. Reece would have the opportunity for social and classroom learning that he may otherwise never have.  I have found a girl with SMA type 1 in Kentucky who is currently attending a preschool classroom via videoconferencing and webcam. Thanks to Juli Clay from Developmental Pathways, who is taking on this project with me. This proposal has been submitted to the school district. The advantages are so great: all of Reece's machines are here at home; he will not be exposed to colds and virus; and I know he will thrive in his education by using this technology. The future is technology and learning through technology.  

APRIL 2008 - Reece continues to fight and so will we!  For with GOD all things are possible.  Friday, April 10, 2008 we almost lost Reece.  Jeff, JP, Reece and myself were watching the Shaggy Dog that evening. The movie was over around 9:00pm. We were going up to bed and laid Reece in our bed. (he sleeps with us)  I went into the bathroom and Jeff suctioned Reece.  I walked out of the bathroom and saw Reece lifeless on our pillow. He was  pale and  his eyes were rolled back. Jeff was right beside Reece, he IMMEDIATELY started rescue breathing on Reece. Reece was not responding. I was getting the oxygen, which at the time we could not tell if it was working. Reece was still not responding.  I ran downstairs to get another oxygen tank, Jp stayed upstairs and either got the oxygen working or acknowledge the fact the it was working.  Reece was lifeless for about 1.5 - 2.0 minutes. It seemed like forever before the paramedics arrived! Jeff continued to work on Reece, he was still white and his hands and lips were turning blue. I prayed over and over again for God to breathe life into our boy.  As the paramedics arrived at home, Jeff rolled Reece on his side, hit him on his back and then we heard Reece gasp for air.  Next, we did the cough assist machine to make sure nothing was blocking his airways.(Saliva) Reece was still white but awake. Jp and I asked if Reece was okay? Reece responded "AAH HUU"!!  A sense of peace came over me when I heard him say that. I thought for sure he was without oxygen too long. I knew instantly that there was no damage to his brain. Jeff did an amazing job with Reece!  Thank you honey! 

Reece and Jeff went by ambulance to Children's Hospital. We spent Friday & Saturday at Children's.  This is SMA!  SMA can do this to our boy at anytime even without having a cold.  SMA will involuntarily make my baby not strong enough to breathe! Our family stands in AWE in front of GOD because all of this, is possible because of him. We have another day with our Reece.  May God continue to bless us with strength to continue to fight with every ounce of energy we have.  Reece reminds us of what love should be!  Pray for our family!  

Reece's oxygen levels have been below his normal levels. This lower level mainly occurs when he is sleeping. (92-87%) We increased the amount of oxygen going through his bi-pap machine to 3-4 liters. During the day, we have noticed his oxygen level drops below 95% if he is not stimulated. We are going to try to change his bi-pap mask to see if it makes a difference at night. We are still waiting on an appointment date for his sleep study at Children's Hospital.  He is still in great spirits, loving life and sometimes a bit bossy.

 April 24, 2008- This rollercoaster ride has so many twists and turns; ups and downs.  The past 2 nights Reece oxygen level has been above 96%! He is doing GREAT! We were scared, but now can relax a bit. I think it is best if we don't try to figure out SMA!  We just need to keep doing what we know with Reece's respiratory care and continue to take the steps needed to bring him back to baseline. We will continue to pray. So please just keep Reece in your prayers even if it is only one.

June 30, 2008 - Reece has been doing okay, no major episodes, he seems to be more tired.  Maybe because it is summer and we take him out.     We leave for California July 2nd.  We are going to take Reece to Disneyland for 2 days. We will drive up to Stanford from Anaheim which is 6.5 hours.  Our family is looking forward to a small getaway.  Reece's appointment with Dr. Wang is Wednesday, blood draws and Thursday for his clinic visit. We return home on July 11th.  Genna and Jp are looking forward to swimming and being together at Stanford.  They also have Reece excited to meet Mickey, Goofy and Donald Duck.  Please ask God to watch over our family as we travel, guard and protect Reece from any health dangers. We pray for a cure for this genetic disorder so that Reece and other children will not have to fight this battle anymore.   

 

 

For more information on SMA:  www.fsma.org    and  www.smafoundation.org.