Monday, March 17, 2008

Self Direction - FINALLY!

As of March 1st Jeff's Self Direction program was approved!! I can't believe everything we've had to go through to make this come about. Gee, it only took A YEAR!!! The paper work was and is endless. This program is supposed to be all about the individual . . . well, after months and months of red tape and paperwork, we've finally gotten to the point where it can be about the individual - Jeff. Last Friday Jeff's recreation therapist, Dennis Cox, came to take him swimming. I know Jeff had a good time. I don't know about poor Dennis though. Jeff broke a toilet lid in the bathroom of Sports Academy. I'd warned Dennis about having to watch Jeff closely in the bathroom, especially the toilet lids. He said it was his fault and he'd not make that mistake again. Other than that, I guess things went well. At least he didn't quit. Dennis said he wishes he could communicate better with Jeff and I assured him that would come. I am still looking for 2 or 3 other people to work with Jeff. This is a slow process and I'm constantly being taught patience.

Jeff's Medical History - For Doctors

Medical history for Jeff Baker
Edited August 2011

Jeffrey Wayne Baker was born in Hoag Hospital in Newport Beach, California on August 8, 1984. He arrived 6 weeks early, weighing 6 lbs. 13 oz. As soon as he cried, I knew that something was wrong. His little cry was very hoarse, as if he had something in his throat. The doctor said not to worry, that he probably just had some mucous in his throat and they'd take care of that and things would be fine. When they tried to place the catheter down his throat to suction him, it wouldn't go down and they knew there was a problem. While I was still in the recovery room, a team of doctors came to tell me what was wrong. He had a Tracheo-Esophageal Fistula (TEF)and they proceeded to draw me a picture. Basically, his upper esophagus ended in a blind pouch and didn't connect to the stomach. His lower esophagus was connected to the lungs instead of the stomach. They said they would transport him immediately to Children's Hospital of Orange County (CHOC), where he would under go surgery to repair the problems they'd found. They assured me he'd probably be home in about 2 weeks. Thus began our long, emotional roller coaster ride and the beginning of a life-long learning experience. The repair of the TEF was just the beginning of many surgeries to come. Just as he'd recover from one finding, they'd find something else wrong. His doctors said that children born with the anomalies Jeff had usually go home in about 4 to 5 months, but those having all the complications Jeff ended up having, never go home at all. He amazed his parents and his many doctors with his strong will to live. He was such a little fighter!! Then finally, after 10 months, 4 days, and 11 surgeries, he came home for the very first time, supported by an assortment of tubes and machines. We felt so very blessed to have him home at last. When he was 11 months old he was diagnosed with a rare syndrome, called CHARGE Syndrome.

CHARGE Syndrome refers to children with a specific set of birth defects. 'CHARGE' originally came from the first letter of some of the most common features seen in children with this syndrome.

C - for coloboma and cranial nerves
H - heart defects
A - atresia of the choanae
R - retardation of growth & development
G - genital and urinary abnormalities
E - ear abnormalities &/or hearing loss

(*Please see link below for more information on CHARGE).

Some of Jeff's other birth anomalies were:
Tracheo-Esophageal Fistula (TEF) W/ Esophageal Artresia which was repaired twice. He also had Tracheomalacia and had a trache for 3 years. He had very bad Reflux and feeding problems, which required a Nissen Fundo surgery. He had Villious atrophy of the small intestines and malabsorption problems necessitating a G-tube. Because of the problems with leakage and a poor nutritional state, they would change the location of the G-tube site occasionally. At one point he had a J-tube. Unfortunately, one of the metal wings holding the J-tube in place perforated his intestines and he filled with peritonitis. Doctors removed part of his Gall bladder and 4 inches of intestines to fight the infection. This was probably the sickest he'd ever been and he was not expected to live. But our tough little guy fought hard and pulled through once again. Jeff was 6 yrs. old when his G-tube was finally removed for good. The tissue granulation was so bad, it needed to be surgically closed. He has a right unilateral Choanal Artesia - which means he can only breath through one nostril. He has microphthalmia and a Coloboma in his left eye that involves the optic nerve. He has Cranial Nerve Dysfunction – lack of smell, mild facial palsy, sensorineural hearing loss, swallowing dysfunction. He has Genital Hypoplasiacryotorchidism, and delayed pubertal development. He had a bilateral orchiopexy for his undescended testes when he was 6 years old. In 2001, because we were concerned about him developing osteoporosis, and because the bones thicken during puberty, we agreed to Testosterone injections, which he received for 8 months. This promptly put him into puberty. For the benefit of other CHARGE parents, I must add a personal note here. I wish we would have never used the Testosterone. Not being in puberty didn't bother Jeff in the least, in fact, he didn't know the difference. Reaching puberty was something that he nor we needed to deal with. It escalated his behaviors and we now deal with acne, shaving, and much pubic hair in the diaper area. Jeff is oblivious to all this of course, and it makes personal cares much more involved. He has upper body hypotonia, sloping shoulders, a short, webbed neck. He has low set, small, misshapen 'CHARGE' ears. He is profoundly deaf bilaterally. He has had many sets of ear tubes thru the years. He has the typical 'CHARGE' face – square, asymmetric face, flat cheekbones, wide nose with broad nasal bridge and small, protruding chin. He is very fortunate that his heart problems are minor. He had a Congenital Heart Defect – PDA at birth. He has a right aortic arch instead of left, but all valves and chambers are normal. He suffered Grand Mal seizures until he was 6 yrs. of age but has had none since.

Jeff does have the random mutation of the CHD7 gene which confirmes that he has CHARGE Syndrome. He is 27 years old. He is currently in good health. At 5'3" he is small for his age, but consistent for a CHARGE person.. He weighs 125 lbs. He is profoundly deaf bilaterally. He is non-verbal. He has no usable vision in his left eye because of the Coloboma. In his right eye his vision is 20/400 with a small cataract and astigmatism. He is legally Deaf/Blind. He is mentally and multi-sensory impaired. He has been diagnosed with Autism (however I feel he is only ‘autistic-like’, as are most deaf/blind individuals), Pervasive Developmental Disorder, Obsessive Compulsive Disorder, and Tourretts. He also has Sensory Integration Dysfunction. He is tactile defensive and has Proprioceptive issues. This is all under the CHARGE umbrella. Jeff communicates with sign language and a picture system. His expressive language is there; he just doesn’t initiate communication often. He has a large receptive vocabulary but does not understand concepts. (Therefore he cannot tell us if or where he hurts, if he is angry, scared, etc.) He walks slowly and with an abnormal gait. He has difficulty walking on un-level ground due to his vision and vestibular issues. He cannot walk longer distances as he tires easily, due to his small lung capacity. Although his functional assessment is on the low side, he does have some splinter skills. He loves numbers and can add, subtract, multiply and divide 3 digit numbers. He enjoys using the computer and can read at about a second grade level. He can take ANYTHING apart, and usually does! Jeff also has Pica. He will eat anything small enough to go in his mouth.
Toilet training is an on-going issue.

In September 2001 he was diagnosed with Celiac Sprue Disease. Therefore he is on a gluten-free diet. At the same time he was also diagnosed with acid reflux with mild esophagitis. In October 2001 due to his self-abusive behaviors, Jeff was placed at Idaho State School and Hospital in Nampa for behavior medication management. While residing at ISSH on June 3, 2002 he had Scoliosis surgery with spinal fusion and rod fixation from T2-L4. This was done at St. Luke’s Hospital in Boise, Idaho. Three weeks later he developed a staff infection and had surgery for debridement. He did well for four months and then two spots on his incision opened with green drainage. October 21, 2002 he had surgery again and the infection was drained, debridement and irrigation was done. Hardware was left in for stability until fusion incorporates. Cultures showed Staphylococcus aureus. On October 25, 2002 a Porta Cath was surgically implanted for the long-term aggressive intravenous antibiotic treatment he would receive. He was treated with 1.5 gm. Cefazolin IV Q 12 hrs. and 600 mg. Rifampin orally. He returned home in December of 2002 where his parents continued his IV treatments until February 17, 2003. Lab results showed the infection growing so it was determined that the hardware needed to be removed. On February 17, 2003 he had surgery at St. Luke’s Hospital to remove the rods and hardware. He was treated with 1 gm. Vancomycin IV Q 12 hrs. and 600 mg. Rifampin orally 2 X daily until April 4, 2003 when both were discontinued. In September 2003, Jeff was diagnosed with osteoporosis. In December of 2004 his Porta Cath was surgically removed. In May 2004 blood tests revealed Jeff had low thyroid and iron levels. On May 11th he was started on Synthroid 0.05 mg and has done well at that dosage. The iron deficiency is no longer a problem. He currently has blood draws every 6 months to check valporic acid levels because of the Depakote he is taking. In May 2006 Dexa Scan showed increase in osteoporosis and he started 150 mg. of Boniva, taking it once a month. In 2010 we discontinued the Boniva and he started getting Reclast infusion once a year. Jeff’s scoliosis was monitored every 6 months by his orthopedic doctor, until just recently when the doctor found that his scoliosis was no longer increasing.

Prevacid 30 mg – for reflux; Depakote 250 mg, (750 mg in AM, 750 mg at noon and 500 mg in PM) – for behavior; Levoxyl 0.05 mg (generic for Synthroid) Docusate 100 mg – stool softener daily; and Celexa 20 mg. – to help with sleep. Reclast Infusion - once a year - for osteoporosis; Two Tums daily for added calcium. He also takes a multi-vitamin and 1000 mg Omega 3 fish Oil capsule daily.

Environmental allergies - Medical tape adhesive.
Food allergies - Gluten due to Celiac Disease.
Drug allergies – Codeine – hypes him up

Jeff has a cute personality, a fun sense of humor, is very active and inquisitive, and is a very happy young man. He loves things that vibrate, spin, light up or flash. He loves using tools and working with wood. We do have to watch him closely because he eats screws, bolts, nails, or anything else he thinks is interesting. He loves making creations from string, tape, balloons, and any toys he see fit to use. Another thing he truly enjoys, is putting spit-wads on any mirrored or glass surfaces. (Although they are quite intricate, I personally, do not appreciate this particular talent of his). He is a very hard worker and will not stop until he has completed what he is doing. He is also a perfectionist at what he does.

Jeff graduated from Preston High School in 2005 and is currently on the Idaho Self Direction program. I was hoping that he would be able to attend a sheltered workshop but that didn't happen. Jeff is still needs one-on-one support, and the workshops are not equipped for that. Jeff did the jobs wonderfully - putting together trophies, sorting tiles, sorting envelopes to be mailed by zip codes, and folding shirts that have been silk screened. He catches on very quickly, but his behaviors keep him from going there. He wants to eat the nuts, bolts, etc. and for his safety, needs a one-on-one aide. So his behaviors are one of the things we work on and our long term goals is to have the behaviors under control enough so he might be able to work at a sheltered workshop or a part time job within our community with assistance. Routine is very important to Jeff and he functions best when he knows he has a set routine. We and his Support Workers work to give his that consistency. We also work hard to keep him active, involved in things that he enjoys doing, productive, fulfilled, loved and happy.

As Jeff's Mom, I feel so very blessed to have this choice young man to love, care for and serve daily. He is a delight and has been my greatest JOY and CHALLENGE rolled into one terrific young man. Jeff has touched more people and overcome more in his short life than most people do in a lifetime. What an example and inspiration he is. He is my mentor, my hero, my teacher. I truly believe Jeff is one of those special spirits that was sent here just to teach others. I know he certainly has taught me what's most important in this life. He has taught me so much and continues to do so daily. Because of Jeff, and wanting to help him grow to be the best he can be, I feel I have probably gained the equivalent of an honorary degree in medicine, education and law. At times it's been extremely hard, and at times it's been much easier. But I can truthfully say, it's been worth every tear I've shed, every ache in my heart, every fight I've had to fight. The smiles, the laughter, the love, and the strength of my son have made it all worthwhile. I am so grateful and thankful to my Heavenly Father for the blessing of this choice young man!

***As one of the many doctors that work with Jeff, if I as his Mother, make a suggestion to you or have a concern, please listen to me and hear me. I know Jeff better than anyone. I've also lived with him and CHARGE Syndrome for 27 years, and YES, even without a medical degree, I probably know more about CHARGE than you do. I won't tell you how to do your job but at the same time, I expect you to listen and take what I say seriously. Thank you.