Stories of affected children and families

Cody Sheppard

Cody Darren, our first child was born on the 28th April 2004. A day after Cody was born he was admitted to the intensive care unit for further assessment due to poor feeding, high muscle tone, and little responsiveness.

In May 2004 Cody had a MRI taken of his brain, and the medical staff at the hospital had advised us that he had Dandy Walker syndrome which meant that Cody would be affected physically. The results were going to be sent to The Sydney Childrens Hospital for a second opionion.

During the next couple of days we believed that our dream of having a family was no longer a dream, and spent days questioning our faith and asking why us, we couldn’t understand because looking at Cody he was so beautiful and looked so normal.

“We couldn’t imagine how we were going to get through the rest of the day let alone the rest of our lives.”

We couldn’t imagine how we were going to get through the rest of the day let alone the rest of our lives. Our family and friends were very supportive however no one really knew what we were thinking or feeling inside, and how much we were hurting. We tried to be positive as we were advised that Dandy Walker syndrome would only affect Cody physically, and that his mental capability would be normal.

A week later the results from The Sydney Childrens hospital were received by The Canberra Hospital. We were advised that Cody had Cerebellar Hypoplasia not Dandy Walker Sydrome. We were advised at this time that Cody would be affected both physically and mentally. As we were just starting to pick ourselves up it felt like our hearts were ripped out again but this time it felt ten times worse. We were advised by family, friends and medical staff that the best thing we could do now was to take Cody home, and treat him as a normal baby.

We took Cody home about two to three weeks after he was born. We were required to tube feed him for about two weeks before he learnt to suck from a bottle. This was such a big achievement for us and Cody. We started to treat Cody as a normal baby, and as hard as it was started the bonding process.

We perform daily physio and speech therapy on Cody, and attend weekly sessions with ACT Therapy. Both the speech and physio specialists at ACT Therapy are wonderful and so supportive, and we always walk out of ACT Therapy on a positive note.

Cody with his therapists from Therapy ACT

Cody is now 8 months old, and to be honest, we still have our bad days and I’m sure we will have these for the rest of our lives. But we are now bonding with Cody, and he is a part of our family and we would never change that. The little things that Cody has already achieved has meant so much to us.

Cody has started to smile and the day that he looked at us and smiled brought tears to our eyes. Yes, Cody has a disability and yes he will do things differently to other normal children his age, but one thing is for certain is that he is our special little boy and he is beautiful. We are scared for what the future holds for us as a family, and for Cody as an individual but Cody is here now, and is special to us in his own little way. All we can do is to take a day at a time, and continue to do daily physio, and speech therapy, and continue to give him lots of love and support.

Darren and Sonia Sheppard
(Cody’s parents)
2005

Cameron Smith

To Darren and Sonia Sheppard.

My name is Patricia Wereik of Perth WA. I received a letter from you yesterday via (I don’t know who) re Cerebellar Hypoplasia. I am very willing to be part of your registrar and also willing to help you two as much as I can with your son Cody.

My story is that my son Cameron was diagosed with this condition at the age of about 2 or 3 years of age through brain scans and I was then informed that this condition is related to (genetic) factors only between husband and wife. They also informed me at that time that Cameron could pass this condition on later if able to have children. Also your other children (could be born with the same condition and pass it on to there children). Has not happened in my case.

My beautiful boy has since passed away from seizure activity a few years ago now. Please do not be alarmed at that as no body knows if that was related to C.H. He had epilepsy real bad but a rare form of it which started from about the age of 3 to 4. He passed away at 12.

“...when I started to get positive and invent things to help him achieve, then things rolled on for the positive.”

C.H effected his balance and co-ordination and I was always inventing things to help him cope. Like walking frames, which I designed and continued to have to change according to his needs and growth spurts. He was never able to walk independantly and crawled around on the floor (or bottom shuffled as he got older). I found that putting leather vinyl patches on all his trousers bottoms and knees worked well. Loads of washing all the time. The walking frames were great but he needed time to do his own thing without the restriction of the frame around me. We had enclosed frames for a few years as he lacked balance side ways and also front to back. Could not sit independantly to about 5 or 6 years old. Cushions or harnesses for sits worked well. A good baby car seat with head wings worked great for in and out of the car.

I became very frustrated many times because he could not do the most simple of tasks until I realise he just could not do them and that when I started to get positive and invent things (so many things) to help him achieve, then things rolled on for the positive. Cameron was also mentally delayed so small steps forward was a miracle each time. It is a lot of hard dedicated work ahead of you both, but please know that the love you have for Cody as I had for Cameron will get you through. These children are from God and sent to us to show what true love is all about. Watch Cody love you back. The bond between you is boundless. I did not have anyone else to help me who had been through the same thing, so I know how you must be feeling so please anything I can help you with at any time please contact me.

Regards to you both,

Patricia Weriek
(Cameron’s mother)
2005

Georgia Mackie

Hello Darren & Sonia

Thank you for your website about your little boy Cody. It was wonderful to finally find an Australian website about this disorder. We are the parents of a beautiful 19 month old baby girl, also diagnosed with Cerebella Hypoplasia. Georgia Alise Mackie was born on 17th December 2004, one week early.

She was originally diagnosed at 4 months after an ophthalmologist ordered an MRI because her eyes were turning in. When she was born, she too had problems feeding and was very listless and lethargic. She took almost three weeks to learn to breastfeed, but we got there in the end (amazingly enough, after taking a cup and bottle feed for the first few weeks, she won’t now, and is still breastfed!). The MRI showed that her cerebellum and brain stem was under-developed on the left side, and she also has a small white matter cyst on her brain.

The same week we got the MRI results, we also found out that Georgia is hearing impaired as well. Like you, we were told that she would definitely have problems with her balance, strength and coordination, and possibly other developmental problems. The ophthalmologist who gave us her results didn’t know enough about the diagnosis, so we were referred to a neurologist at the Royal Children’s Hospital in Melbourne. At first they thought that perhaps Georgia had had a stroke in utero or perhaps that I had an infection during my pregnancy. Both of these have since been ruled out. We have seen geneticists at the Children’s and they have advised that while there is a 10% chance of subsequent children (Georgia is our first baby after many years of infertility) having a hearing impairment, there is no genetic link between my husband and me to cause the hypoplasia.

"The intervention is going well, although it is slow going. Georgia can just manage to hold her head up and neck straight for a short time."

The doctors at RCH have been wonderful, but unfortunately, have advised that we must play a waiting game and only time will tell what she is going to be able to do (or not do). So, at 5 months she commenced early intervention with physio, O.T. and speech therapy, as well as recently hydrotherapy. At 6 months she was fitted for hearing aids. The intervention is going well, although it is slow going. Georgia can just manage to hold her head up and neck straight for a short time. We are hoping for this to improve so she will be able to sit up unassisted by Christmas this year.

After reading Cameron’s story, we have adjusted our visions for Georgia to walk, knowing that this might be a long way away. She doesn’t smile a lot, but it is starting to be a bit more frequent (although she is very wary of strangers and takes a long time to warm up to people and situations). She is starting to use her voice, but is not actually making any sounds as yet. We have had a lot of problems with feeding her, as she is very tactile defensive and would not allow anything near her mouth, other than my breast. She doesn’t explore her toys or food with her mouth, but we are improving slowly with food and hope to begin finger foods next year. She doesn’t like people touching her hands, but will carefully explore her toys for a while before she will pick them up. She isn’t overly social, prefers to just watch people, but she knows her mummy & daddy and her two nanna’s and is comfortable with us.

Georgia has always responded to people singing to her, so we have a lot of song and rhyme time with her therapy, joining a Mother Goose program this year which has helped her get used to touch a little more. Her eyes are still turning in occasionally, usually when she is tired, or lying down. Her vision seems to be ok; although her response is a little slow (probably because she mostly has her head slanted down to the right as her neck control on the left is weak). She has definite developmental delay, but seems to be processing things ok, if only a little slowly. She uses her left hand for everything, so we are currently trying to strengthen her right side. She is rolling around a lot, and has learned to pivot her body into position rather than move forward (this is our current exercise struggle!)

We have lots of equipment on loan to help with her therapy, and are currently on a waiting list for a pram/chair to help with feeding and outings.

Our little girl is loved and adored by everyone who meets her, and while we have our up and down days, we, like you and your little boy will continue to take each day as it comes and try to help her achieve the very most she can in life. Each milestone is celebrated, regardless of when it occurs.

Thank you for letting us tell Georgia’s story.

Sue & Ken Mackie
2006

Links to other stories

My life as Alyssa's Sister
www.tell-us-your-story.com/_disc99b/00000009.htm

A Mother' s Story
www.circl.pitt.edu/home/Fetal/cdcsin/monicatalk.htm

Brain Talk Communities. Register to read various Cerebellar Hypoplasia stories
http://brain.hastypastry.net/forums/register.php?a=ver

Joshua Mark Ruggerio
www.geocities.com/msruggerio/joshua.html?200516