Rowan Shelby Scott Packer (Tay-Sachs disease)

Rowans Story 

Since Rowan was about 6 months old we noticed that he wasn’t meeting his milestones such as sitting unaided, rolling over and grabbing toys etc. We got in touch with our health visitor and expressed our concerns, so he was referred to see the physiotherapist, speech and language therapist, occupational therapist and a paediatrician. We knew he had low tone but never knew what was causing it. One of our biggest concerns was that he wouldn't focus on us or any object. It was as if he would look through us. Also, he would startle very easily to sounds which we thought was unusual. He also would only eat pureed food at 10 months.

Because of everything going on with covid 19 Rowan was unable to meet with some of the team face to face, so we done video calls. They helped but it's hard to try determine what’s going on over a phone. He was referred for an eye test, genetic bloods and a brain mri. However, these were put on hold because of the pandemic. I explained to the paediatrician how important I thought it was for the eye test to go ahead as we were concerned that he could be blind.

Our ophthalmology visit took place on the 22/4/20. The ophthalmologist, told us the news that Rowan has a “cherry red dot” behind his eye. The doctor explained to us that the cherry red dot is a characteristic of certain metabolic conditions; all of which were very serious. I felt like from the beginning I could feel it in my gut that something was seriously wrong but was not prepared to hear that my son has a serious genetic condition from  an eye test.

After this appointment an appointment was scheduled with a metabolic doctor for the following day. This worried us as everything was moving so fast we know something was seriously wrong. When meeting with the metabolic doctor he assessed Rowan and took bloods and urine sample and sent them away. He explained to us that he thought a genetic condition was the cause of Rowan not developing as normal. He examined Rowans reflexes and told us that Rowan is actually like a 2 or 3 month old baby because of the way his brain was reacting.

We then received a call on the 28/4/20 l to say they had the results from the blood test and could we come to the hospital the following day. We arrived at the hospital on 29/4/20. The metabolic Doctor sat us down and explained that the results came back as Tay-Sachs disease. We already looked that condition up as the cherry dot narrowed it down to 6 conditions. The doctor said he was so sorry and that there is no treatment options for this condition and the plan is to make Rowan comfortable. The doctor looked devastated delivering the news to us so you can imagine how we felt. The doctor explained how rare these conditions are and the effects of them are devastating. Sitting there while a doctor explained that my son will lose every ability he has and that he will soon experience seizures and the maximum age he can live to is 5 is a hard pill to swallow.

Our hearts are broken and knowing the road that lies ahead of us is devastating. Knowing your time is limited with your baby is the worst feeling as a parent. We have to concentrate on making every single minute with Rowan as special and happy as we can. I feel grateful for each day I have him in my arms to kiss and cuddle and make him smile. Each time I look at Aaron and Gracie with him cuddling him, singing to him and making him laugh breaks me. Knowing that he will not only get taken away from me but his brother and sister hurts me the most. It is so important for us to cherish and take advantage of every second we have and that I will do. Rowan has completed our little family and I feel honoured to get to be his mum. The only comfort I have is knowing that Rowan needs extra care and love I can give him that. I can make every day he has happy and filled with love some children don’t have that. Also, knowing that we have such a loving, caring and supportive family to help us through this is something not everyone has

Spreading awareness is vital for this rare condition. There is no known treatment or cure. Raising awareness will help children of the future who are affected with this condition and their families receive the support that is much needed. Also, speeding awareness will educate people to be more aware of the risk factors involved.

Tay-Sachs disease is a relatively rare condition, affecting an estimated one in 360,000 children born worldwide. Although, people of Ashkenazi Jewish heritage (of central and eastern European descent) are at the highest risk, people of French-Canadian/Cajun heritage and Irish heritage have also been found to have the Tay-Sachs gene.

A Child can only get Tay-Sachs by inheriting the gene for it from both parents. Tay-Sachs can be detected before birth, so couples who are thinking of having children may want to get a blood test to find out whether their child would be likely to have it.

There is no cure for Tay-Sachs disease, but genetic screening before planning a family can give a couple options such as preimplantation diagnosis which can ensure that their children do not have the condition.

Tay–Sachs disease is a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord. The most common form is infantile Tay–Sachs disease which becomes apparent around three to six months of age, with the baby losing the ability to turn over, sit, or crawl. This is then followed by seizures, hearing loss, and inability to move, with death usually occurring by the age of four.

Tay–Sachs disease is caused by a genetic mutation in the HEXA gene on chromosome 15. It is inherited from a person's parents in an autosomal recessive manner. The mutation disrupts the activity of the enzyme, which results in the build-up of the molecule GM2 ganglioside within cells, leading to toxicity.

Life is cruel but the amount of people that have shown us support is overwhelming. The kindness that exists blows me away. I hope one day I can help someone else in this position the way others are helping me.

Social media has put me in touch with numerous people who have or are experiencing this. There is people from all around the world helping and support each other through this. There’s is a women from Aberdeen who’s son has Tay-Sachs and they are the only other family in Scotland that we know of.

I don’t like using the word “unlucky" when referring to what has happened, as I feel like I am the luckiest mum in the world to have my 3 children in the first place. This will definitely be a hard road for us and our families. We can’t fight to find a cure or get treatment so I really would appreciate if everyone can help us share our story. I want everyone to know about this condition and I want everyone to be aware that the chances are slim but it does happen!

Please look up information on Tay-Sachs disease, each person being aware could make a huge difference in the future.

** THANK YOU TO EVERY SINGLE PERSON WHO IS SHARING MY SONS STORY, SENDING US KIND MESSAGES, DONATING TO THE GO FUND ME AND TO EVERYONE THINKING OF IDEAS TO SPREAD AWARENESS AND FUNDRAISE, IT MEANS EVERYTHING TO US**
 What Your Donation Will Mean - Our hearts are completely broken. I want my family to have the best time they can with Rowan so that they can make every moment in his life special. There will be many emotional and physical challenges ahead, and the last thing I want is for my family to suffer through any financial challenges. As the parents of 3 young children, the last of their worries should be on money. All money raised will be going directly to my brother and sister-in-law so that they can focus on being present with Rowan and cherish every single moment with him. I want to make their life (and Rowan’s) as comfortable as it can be so that my family can make memories to last a lifetime and give Rowan the best life possible. His older brother and sister should be able to look back on the amazing time they had with their baby brother during his short but precious life. I am aiming to raise as much money as possible and it will all go towards helping to ease Rowan’s parents financial stress and worries so they can focus on caring for their beautiful son. We are all going to face this challenge head on and will enjoy making Rowan’s remaining years unforgettable. Any donation, no matter how big or small, will be massively appreciated. Thank you so much for your support so far. It means the world to us ❤️ FOLLOW ROWAN ON HIS JOURNEY AND RAISE AWARENESS FOR TAY-SACHS ⬇️Rowans Facebook page 

       TaySachs NHS link