•  Updated 4/23/09

Alec, born in the spring of 2001, sunny side up as they say. He was diagnosed at two weeks old as one of the few children affected by this extremely rare condition. He is our son. This is his story.

Alec is a very happy and loving boy. He shows some of the typical characteristics of this condition and some not. Because the condition varies case by case, even if the deletion is in the same place, it is difficult to determine or guess how his life will play out and how he will be affected specifically. Since the age of 3, he has been in a special school program and special therapy. He has been doing well and we hope the daily special attention will help him even more with his developement.

Alec does have a severe mental delay. Other than the slight microcephaly, Alec does not have any dysmorphic features. His head circumference is only small by a few centimeters and isn't very apparent to the eye. This is probably due to the fact that he has a mega cisterna magna where his cerabellum would have been- (a large space in the brain filled with spinal fluid where the cerebellum didn't fully develop). This is the part of the brain that is mainly responsible for coordination.

He has a high arch palate. He did have contractures of his elbows and knees but has received physical therapy from the start and no longer has any apparent problems in that area. He was born with a mixture of high and low muscle tone known as hypertonia and hypotonia, respectively. With therapy, this has greatly improved although we still work daily on the low tone in his shoulders and arms. He still has motor incoordination issues. He has an unsteady gait but has learned to work around it. He learned to run and must wear his customized helmet everywhere. He started walking at 21 months of age, which is quite good for his condition. He was born with bilateral undescended testes but one has since moved down. We are considering surgery to correct the other undescended testicle in the future. He has been extremely far sighted, +650 and received glasses, but in the most recent eye test has shown some improvement and may not need glasses any longer, alhtough even if he does, he won't keep them on. He is extremely sensitive to anything touching or being on his face and will pull anything off. He also has been diagnosed with exotropia (the turning outward of one eye). He has a moderate hearing loss and has hearing aids. It's hard to keep the glasses or heaing aids on him without him pulling them off as we stated.

He has asthma. He also suffers from reflux and partial complex seizures. Every winter is a challege for us due to the cold and flu season exacerbating the asthma. He has a few food intolerances including soy and milk protein. This requires him to have a special perscribed formula for his nutrtion. He doesn't have the coordination to eat solid foods as of yet and is on the formula given to him through his G-tube directly to his stomach. We are really working with him to develop his feeding skills and he is making some progress but very slowly. Due to the reflux and soft enamel in his teeth he has had severe tooth decay but has been in for restoration under anesthesia on those teeth but there is so much work to still be done for Alec's dental needs.

He has pronounced verbal delays. We have heard more distinct sounds being made from him, although none have been formed words other than one word only, "daddy". We believe he speaks clearer when motivated by frustration of some kind but still inarticulate. He has difficulty in regulating his body temperature and we have discovered he does not sweat noramlly. This is called anhidrosis. This is most likely due to something neurological rather than the lack of sweat glands. We are still looking into it further but during the hot seasons it becomes vital to keep him in cooler environments so as not to overheat. He has trouble regulating his blood sugar levels as well. This is due to a metabolic disorder for which many tests are currently being done to determine which type. His symptoms suggest that it is consistent with Glycogen Storage Disease Type 0 although this is not conclusive and is probably even a more rare diagnosis. This disorder is even more rare than the Ring 22, about 15 documented cases.

His seizures began as staring episodes (we called them the 7 mile stare). Then he began to lower his head during these episodes and their frequency increased. We then started him on medication to counteract the seizures. The medications actually changed the look of the seizures and increased the frequency causing his arms and shoulders to raise some and slightly shake. This has caused him to lose his balance and fall backwards many times. He also had initial adverse reactions to the medication causing vommiting and drops in his blood sugar levels. He even has had a severe reaction to one of them causing his entire body from the top of the head to the bottom of the feet to break out in a rash. Due to these seizures, in combination with his metabolic disorder and asthma, he has been hospitalized dozens and dozens of times since the beginning of summer 2004. After trial and error of over 10 seizure medications we have settled into a combination of two that seem to have some success rate at various times. Since he wasn't "thriving" like he should have and after a near fatal mistake by a doctor, we switched medical insurance coverage in 2004 and we have finally seen some results and diagnosis come to light. He now has a great doctor that will stop at nothing to make sure Alec is healthy and happy. He has had surgery to have a G-Tube put in to help him with his feedings and medications in times of sickness and low blood sugar. He has been more stable since then. We have been able to avoid low blood sugar hospitalizations many times due to being able to just give him apple juice in the G-tube resulting in his sugars going up enough. In recent hospitalizations we also discovered he has a slight heart condition: Aortic & Mitral insufficiencies. Although minor at this point he will need to be checked on an annual basis to see its status.

After almost 9 months or so of being seizure free, Alec's seizure medications seemed to start wearing off and quick. He started to have seizures creep back little by little. We started to adjust his medication levels to prevent the seizures but they continued to increase in frequency and became similar to the ones awhile back where they would cause him to fall back. Some were even violent like, whipping his head back on the ground. They only lasted a few seconds at a time but it was long enough to cause the falls. The frequency of the seizures had increased to about every 5 minutes or so all day long as well. He had to wear his helmet all the time as to prevent head trauma.

On February 18th, 2006 Alec had a seizure that surpassed any previous seizure in intensity and length. It was a grand mal seizure lasing 30 minutes long. He was rigid and terrified of what was happening to him. This, of course, compelled us to call 911 emergency right away. He was rushed to the hospital and evaluated. This began a long journey of hospital stays in the Pediatric Intensive Care Unit (PICU), back home again followed by a few more long seizures then to return back again to the PICU. His medications were being adjusted again to higher levels and the seizures seemed to be less frequent but he started to present other behaviors as well. He showed a severe iching irritation in the head and whined a lot as if in constant pain or head ache. A CT scan had revealed that due to one or more severe falls he had sustained some head trauma. The brain was bleeding and swollen and had shifted to his left. This condition was what had caused the longer seizures. Our hearts just sank when we found out about this. Our poor little boy. After a roller coaster ride over a month or so and being treated in the PICU with manitol for the swelling, the bleeding seemed to have stopped on its own and the brain had moved back to where it should be. Alec came back home for a short time. Although still in need of healing, he seemed ok, but he wasn't our happy, laughing little kid he once had been. It just hurt to see him so weak and fragile. For the next 3 weeks at home he seemed to be improving and gaining his strength back. He even was starting to giggle at his favorite TV shows and walk around the house again with frivolity. We felt better and began to feel a sense of calmness with him.

Then on March 24th, 2006 on a semi normal day and upon returning home from the store Alec laid down and went into another long seizure out of the blue. We administered the diastat medication we had, like we previously had done, and then had him rushed to the hospital. He had started to bleed on the brain again. It had bled so bad that it caused more shifting of the brain and now required neuro surgery to evacuate the area of all the blood. He was in and out of the PICU for months following. He was in the hospital for 12 consecutive weeks followed by a short time at home then another 15 weeks or so in and out. He has had almost every possible complication one could have in his stay. The CSF (cerebrospinal fluid) in the brain had a continuous leak and build up in the side of the head. He developed multiple bacterial and fungal infections. This led to a few other follow up surgeries, including the permanent removal of part of his skull for a period of time until the infections were clear and gone. There also was a placing of a shunt on the brain to help with CSF flow. We strongly disagreed with this procedure and felt it the wrong decision on the part of the current Neurosurgeon in charge of Alec's case, but was pressured into moving forward with it. More medicines were given to fight the infections as well. He had various drug reactions to the treatments, including bone marrow failure, kidney failure, vasculitis, a rash from head to toe, fluid build up of the lungs and bad fluid edema throughout the whole body. His heart had complications. He lost all muscle tone and body function due to the shunt constantly malfunctioning and causing undo drainage and complications on the brain. He had periods of time of constant vomiting and seizures. His brain had been over drained and under drained by the shunt system causing brain and ventricle collapse followed by recovery and over hydration and build up. He recovered from all complications one by one. In the mix of it all we were inspired to inquire about a second opinion about Alec's condition and discovered there was another Neurosurgeon more qualified for Alec's case right there at the facility. We then had him take over Alec's care. One of us has always been by his side the entire time of his stay, day and night. We were in constant prayer. We had been switching back and forth as to support the rest of our kids with some quality time as well. We were exhausted and tired but felt it necessary to be by Alec's side until he came home fully recovered. Our love for him and each other grew immensely throughout this trial. We are quite confident that much prayer and faith on his behalf and ours has been his and our sustaining force. We thank all of you for your prayers, help with child care, meals and donations. It all helps more than you know.

He finally became stable enough to come home for a short time until his next scheduled surgery and was discharged on June 9, 2006. After awhile waiting he finally was scheduled for the surgery to put back in his bone flap (skull) on June 26, 2006. Three days before the scheduled surgery he had an acute respiratory problem that required him to go on a 5 day steroid treatment. The surgery had to be delayed. In addition, the shunt malfunctioning worsened at home and he was not able to be in any upright position for more than a few minutes or it would over-drain and cause much headache pain with possible shifting of the brain itself. After much patience and communication with neurosurgery we finally got a new surgery date and an appointment with the Neurosurgeon on July 20th, 2006. We were finally able to communicate our concerns and questions and get a plan of action for Alec over the next months with regards to his surgery, follow up and shunt issues. His new surgery date was scheduled for July 26th, 2006. The surgery went well with no apparent complications. He quickly returned home 3 days later on the 28th. He was doing well at home for the first few days and then on August 1, 2006 there was an acute change. His CSF build up started to increase significantly in the subgaleal area above the new bone flap. It was stretching out his scalp and was not going down when sitting him up. It became hard and red as well. Seizures began to occur again and he was throwing up his feeds. The next morning he woke up even worse and now with a fever. He had to go back in to the hospital and was admitted on August 2, 2006. On August 4th, 2006 he had another surgery to help resolve the CSF issues and fix the shunt. The surgery went well and on the first follow up CT scan the brain looked almost normal shape with very little CSF collection by the brain; although it did start to collect again in the subgaleal area above the skull in the next day or so. He got to come home for one day but while at home he had a night of continuous vomiting and pain. He was admitted yet again. After testing it was discovered he has another infection in the shunt. He had to go back for surgery on August 9th, 2006 to basically start over. The whole shunt system and bone flap were removed and stayed out until the infection could be cleared and treated.

After more weeks in the hospital treating the infection and CSF leakage he became stable enough to come home again without a shunt and was discharged on August 23, 2006. The new current Neurosurgeon agreed the shunt probably never should have been used for Alec the way it was and that it had been the cause of most of the latest pain and complications. He came home but with his pic line still intact, continuing his anti-biotics for the infection at home. This caused sever diarrhea and rash on his bottom. On his appointment on October 9, 2006 Nuero Surgery stated to us they believe the CSF issues in the subgaleal area have completely resolved now and because he is still stable enough there will be no need for another shunt. Although due to the shunt originally and mistakenly being placed on the ventricle instead of in the subgaleal area, followed by the many malfunctions and trauma placed on the brain, he has now developed some typical hydrocephalus in the right ventricle as well as loosing brain substance on the right side. We are hoping and were told that if it didn't get worse he will not need another shunt to control it. You could imagine having to go through it over and over again if another was put in. Infection and malfunction are very common with shunts. We all were very tired of living in the hospital and still prayed for special help from above for more normality to come back to our lives and for Alec to fully recover and heal. So far he is doing extremely well and getting his strength back. The anti-biotics eradicated all the infection and the pic line was removed. The diarrhea left and his bad bum rash was gone and his stool returned to normal. After many weeks of physical therapy he began walking again. He still continued occasional seizures and we worked with neurology for updates on treatment.

The next surgery to put back the bone flap again was tentatively scheduled for six months or so out around April 2007. In the follow up appointment for Alec's bone flap surgery we discovered that his skull has started to grow back on it's own and pretty significantly. Although this is not unheard of, it is rarer in children of Alec's age. This is some great news. Although his previous prostetic will no longer fit and cannot be used he had the hope that he may not need one at all. The surgery was again postponed and he will be followed up on every six months for the next year to year and a half to see how much more his skull grows on its own. If it continues to grow the way it is showing now he will not even need another surgery. YEAH! And even if it doesn't grow completly back the area that would need to be covered by a prostetic will be smaller, meaning less chance of his body having complications to the prostetic. This is great news either way you look at it and we give thanks every day. We prayed there is to be much more good news for Alec in the future.

In 2008 and during that last year waiting for this appointment we have had some great happy times with Alec as he has improved significantly overall. We can tell that the damage to his brain by the shunt and trauma of it all has caused even more delay to his developement and has even set him back from previous progress made but we have hope he will still be able to learn and progress. We also have had a few setbacks in other areas as well. The biggest one worth mentioning is a mistake made by his now former pharmacist. The wrong seizure medication was mistakenly put in his prescription bottle on a refill. This wrong medication was one of the medications he has had in the past that we know results in severe allergic reactions. In addition, he was given a mega-dosage of it due to the mg potency differential in the two drugs. This has caused some very bad effects on Alec for which we are still treating but still will not know the full extent of the damage for months. His seizure threshold was lowered and the intensity and frequency of seizures have increased and returned among other things. This caused falling to return. Due to the falls increasing, he has broken his nose, cut open his forhead, chipped his teeth and more. In addition, because the seizures returned he stopped getting up and walking probably as a defensive mechanism to so much falling. He had now lost his ability to walk and doesn't have much strength to even get up on his own let alone walk.

On July 11, 2008 he finally had his surgery to have his skull prosthetic put in. (he's been without part of his skull for two years now, wearing only a helmet to protect his brain). The surgery went well and he came home 3 days after surgery. Then he got extremely sick 3 days later with some kind of virus and was throwing up with diarrhea for 24 hours and it got to where he was throwing up blood and became extremely dehydrated. He went back in to the hospital via ambulance. After being re-hydrated and treated he became stable enough and came home again after 5 days hospitalized. Then a couple of days later at home he woke up with some extreme swelling in the area of his surgery and had to go back to the hospital yet again for a CT and testing for infection. After 4 days and a lot of testing, he is back home again seemingly ok. We still needed to monitor him for symptoms of any infection or anything but he seemed happy and well. We are still praying for that miracle and protection from infection as a true infection would mean starting all over with his surgeries and setting his progress back at least a year or more. We have faith but are always worried after one of his surgeries.

On August 21, 2008 we had a third follow up appointment for Alec's post surgery / complications healing. His Neurosurgeon was surprised to see the swelling in his head was completely gone so soon. The abscess behind his ear with a suspected localized infection is healing and he gave us some help in figuring out how to keep it covered and protected (hard to do with hair growing in). Alec finished his antibiotics on 8-21-08 and we had a follow up appointment September 4th.

On the follow up appointment the doctor again was astonished at his progress and how well it was. There was no real sign of the infection returning completely but needed more time to show a full recovery. When we followed up again another month later he was doing well but it seemed that there may be some more infection returning. He had just previously contracted the flu that week so it was hard to tell for sure if the infectious area was due to non-recovery or due to a flu reaction in the body and his lymph nodes not functioning properly to filter sickness. The doctor together with the infectious disease department decided it was best for him to be put back on a long term anti-biotics course; (6 months to a year) to make sure any and all infection in the head area would be completely gone and not anything lingering in the prosthetic.

In November 2008 he was seen and it was decided that he needed a localized surgery to completly clean out the abscess area and revise some of the stretched out thin skin there. The surgery went well. They had to file some of the prosthetic away to get the skin pulled down and reconnected. The shape of his head on the side of the prosthetic is slightly odd but will be harder to see as his hair grows and covers the area.

He has been doing well and infection free in the head since. At the time the anti-biotics course were added to him, his seizure meds were also adjusted again. He has been extremely blessed to be seizure free now since the addition and adjustment of his anti-biotics and seizure medication. We pray that continues. Other complications that have arisen since though have been a side effect of the anti-biotics. Not only are they killing all the infection bacteria but also the good bacteria found as well; that keep at bay other infections from growing in the stomach. He contracted a c-diff infection and had severe diarrhea, causing dehydration followed by the acidity in his body to be way off. This caused the eating away of his esophagus followed by vomiting blood and blood in stool. His bone marrow started to be affected as well and began to fail. He was again hospitalized for two weeks in recovery and given an additional anti-biotic targeted towards the c-diff. After having to go through two courses of the targeted anti-biotic he has now recovered from that. It is still a battle balancing the first anti-biotic (to eradicate & prevent the head infection) with its side effects and manually giving him the good bacterial supplements to prevent c-diff from returning. So far we are blessed to have him stable and happy, although still having occasional diarrhea blow outs.

Thank you to everyone who has been praying for Alec and our family. It really does help and if you can keep remembering him we would really appreciate it. We hope all of this resolves soon. We so need this to be the end of this chapter of health challenges in his life. He needs to be able to return to physical, occupational and speech therapies so he can walk, talk and progress in development again. He needs some fun, happy times as it's been such a challenging road so far.

Another challenge we faced constantly when young was with CCS (California Children's Services), who is supposed to approve the purchasing of necessary medical equipment such as a specialized gate trainer, positioning chair and equipment and room matting or padding and more. They have been giving nothing but run arounds and excuses and not following his case and it's taken years to get some of the needed devices to help him. To this date Alec still does not have all the needed equipment for being home but since becoming an adult we've had some more success in getting some modifications done to help him. Please keep him in your thoughts and prayers so he will have the quality care and attention he needs as well as a full and speedy recovery from anything that may arise in his rollercoaster ride of health at times. We all miss his previous state of free roaming and laughter and long for his voice and laughter to fill our home on a regular basis again. It has been and will be a tough road ahead with more physical therapy, speech therapy and constant care but with faith and prayer it will happen.

Despite his many challenges in life we have never known a happier child with such a special spirit about him. He brings out smiles in all those around him. We hope and pray he will live a happy and fulfilled life and create some wonderful, fun memories with all those who know him and that we can provide him with whatever he may need. We need to catch up on our work and bills that have accumulated debt over the year or more of having to be in the hospital with him. If you would like to help with any information that would be beneficial to our son or give a donation in his name to help with equipment or accumulated bills please donate or contact us with any questions. It's been a tough road but we have been very blessed and Alec is a strong, special boy. He definitely has a purpose here. We still have some more challenges ahead of us but we know we will be sustained. Alec is currently living with his Dad full time after his parents divorced in 2023. He is doing well and mostly stable and his dad is his full time caregiver for his daily needs. His dad's strong knowledge and faith in the importance of families and their eternal nature along with help from above gives us added support. We will keep the road we face updated on this website the best we can although we know there is much more needed to fully update this site and Alec's story. Thank you for visiting our site for Alec & Chromosome Ring 22.