Parents view of Sandhoff
Alright so you have the doctors definitions of what Sandhoff Disease
is, now we can talk about what it is about from a parents perspective:
The babies are born healthy. There is no sign of anything being wrong. The baby grows and seems perfect to everyone, even the doctors. Around the time the infant should be rolling, a Sandhoff child may or may not be reaching this milestone. The doctors will tell parents if a concern has been brought up that there is no need to worry, and that all children develop at their own pace.
Nearing 6 months of age, now there is noticeable tiredness in the infant. Most babies have started to crawl. A Sandhoff child will not crawl, but probably has mastered sitting alone and may have gotten onto his or her hands and knees. It is common to see a Sandhoff baby even suddenly fall over when sitting alone, for no reason at all. The parents again may or may not have brought this up to their private doctor.
At 9 months of age, lethargy is a daily battle. The baby will be tired and take many naps when most babies are breaking the every few hour nap routine. You may notice now tightness in the legs or arms and a general weakness in the rest of the body. Most parents have by now for sure spoke to the doctor about what is going on and there may have been testing started by now to determine the route of the problem. The baby will still be smiling and laughing though, and appear healthy. There are no others real signs of the disease at this point other then just general tiredness and some tightness in the muscles.
Nearing the one year mark, things most likely have changed a lot in the last three months. Now the child is even more tired, and is probably losing the ability of sitting for long periods, and loosing the ability to grab things within reach. The child's eyes may be starting to "wonder" and they may seem to be less responsive then just months before. The disease is setting in and the break down of the brain function is really beginning at this point. By now for sure your doctors are running tests and more tests. Most of which always come back normal, and what seems like an endless cycle of ups and down is beginning. Soon after this point most parents are sent to an eye doctor, where they will find the cherry red spots on the back of the child's eye, or a genetic screening has been done and the diagnosis of Sandhoff Disease is given. All parents feel like they have received wrong news. They feel like the doctors are completely wrong about everything and denial is setting in. This is totally common, and occurs in every family. Speaking from experience I can admit now that I did also think that they were all wrong and my child would be just fine, we as a family felt that we would beat the disease and that our child did not have this genetic disorder. We all have been there and understand your feelings, if you are a parent reading this now.
At 15 months most children have now lost all ability to sit, they cannot grasp things when trying to pick them up, and are probably loosing head control (meaning that they can no longer hold their own heads up anymore). It is a slow but continual downhill progression from here.
At 18 months to age 2 the child will start to have seizures. They can come out of no where. The seizures normally start either by a sudden episode of no breathing, twitching, jerking, or even just a continual slight movement on one side of the body. You need to see the neurologist for them to prescribe medication to control the seizures.
Death normally occurs around age 3. We have though met a child named Riley Luce who is well over 5 years of age currently! Clayton Mulligan reached 4 1/2 years old before he lost his battle. It is hard to pin point what will cause the actual death. Some pass from respiratory failure or continual infections. Others heart or other organ failure. Some from the loss of ability to digest any food. All children come to a point some time after their 2nd birthday or sooner that they will need a feeding tube placed because they will no longer be able to eat without aspirating (meaning that fluid or food get into the child's lungs). The children come to a point that they are totally unresponsive, and just basically lie there. They stop crying and making any noises and just seem to be in their own little world. Some loose all sight, some loose all hearing. It is a gut wrenching experience to see your child go through and this leads to what we as parents of children that had Sandhoff Disease are here to do. We want to help you in anyway we can. We can lead you through the disease itself and will be of support if you need it. We can give you resources on organizations to call and what they offer. We are here if you need it.
If you have detailed questions about certain stages of the disease or have questions about something your child may be doing, please don't hesitate to email us, we will respond right back to you...
We now have a Facebook Group for all Sandhoff children, their families and friends. To get to the group just search:
SANDHOFF DISEASE on FACEBOOK and look for the group with the Rainbow Icon~!