Having a baby with Type 1 SMA
Most people (us included until April 1999) have never heard of Spinal Muscular Atrophy (SMA) Type 1. Yet it is the number one genetic killer of babies under one year of age.
SMA is hereditary and both parents must carry the gene for a baby to be born with SMA. If you are both carriers there is a one in four chance of a baby boy or girl being born with SMA unfortunately you are very unlikely to be aware that you are carriers of the gene until you have a baby who is affected. Although I say unfortunately this is not entirely true, because these very special babies give so much to all who meet them in their short lives.
It is estimated that one in fifty people are carriers of the SMA gene these people are perfectly healthy.
When our second baby daughter Joanna was born she passed all her first health checks, which isnt unusual for babies born with SMA. Then at around three to four months we noticed her muscle tone and development wasn’t what it should be, she was referred to Torbay Hospital, where we would soon learn our daughter had SMA Type 1.
What was SMA and how would it effect our daughter, there is no easy way of hearing or giving the prognosis of SMA Type 1. Our daughter would not see her second birthday, more realistically would not see her first. There is no cure for SMA, but there is a lot you can do to make their lives happy ones.
Complete devastation is all you can feel at a time like this your world hopes and dreams for the future fall apart. But within days we realised that although Joanna was unlikely to be here with us in a year’s time (no one has this guarantee in life) at the moment she was happy and had a life to live, and in that short life she touched many peoples hearts. She was amazing is the only way I can describe her, she gave us such strength for what lay ahead.
Now people tell me they remember Joanna for her amazing big blue eyes which followed you every where, and the inspiration she gave in her life.
Joanna was nearly nine months when she died last July from SMA Type 1. She is still deeply missed by all that knew her.
We don’t wish to frighten any one but just want to make people aware of SMA and how it does exist.
There is an excellent support group for families who lives are affected by SMA. The JTSMA they have all the information that you can possibly want and can put you in contact with other families, which can help you feel that you are not alone at this very difficult time.
Written by Judith Pitcher & Paul Bridel- Parents of Joanna Rose - 23/10/1998 to 18/07/1999
The months before Joanna was diagnosed with SMA
Joanna was born on Friday 23rd October 1998 she was born by elective caesarean during which I was awake a few days before my due date of 3 November 1998. She was born at 10.02am she came out airing her lungs, and weighed 8lb exactly, she had Apgar scores of 9 then 10 at her birth. She was checked over and passed all her health checks no problems were found. We were delighted we had another healthy daughter a baby sister for Rhianna. Joanna was breastfed and she took to this straight away, while I was still in the recovery room. We then went up to the ward to get to know Joanna.
Joanna was a good baby in hospital different to her sister who I had to walk up and down the corridor of the ward with to get her to settle. Joanna would have a feed and then either just settle back to sleep or go to sleep in my arms. Rhianna came to see Joanna on 24th October which was her second birthday and was delighted to meet her sister.
Joanna had another routine health check while in hospital and no problems were found we came home from hospital on Tuesday 27th October. Rhianna was so excited about bringing Joanna home and when we took Joanna out she would show her off to everyone we met.
Joanna’s great grandma was in hospital when she was born and had been very ill after having a stroke and I used to take Joanna when she was just a couple of weeks old to visit her and she would love to see Joanna and sit there cuddling her and I’m sure this helped her great grandma pull through.
It seemed that we had a very content happy baby who was happy to sit in her car seat and watch her big sister causing havoc. Joanna rarely cried, she settled down to sleep much easier than Rhianna ever had and was causing us no concerns. She was gaining weight nicely and going to baby clinic fortnightly. In December Joanna had her 6-week check and there were no concerns. My health visiter commented a couple of times on Joanna’s amazing eyes and how they would follow me when I moved around the room. I can remember someone else once commenting on what a quiet cry Joanna had, but this did not seem a problem to us. Christmas came and went life was hectic with two young children and we felt happy and lucky to have two healthy little girls.
Rhianna is adorable don’t get me wrong but as a baby she was very demanding cyring a lot she was born 20 days late and seemed to be able to support her head from birth. In early January 97 when Rhianna was 2 ½ months, we had a photo done of Rhianna and she is lying on her tummy holding her head right up.
Now at the same age in early January 99 Joanna couldn’t do this but we werent wanting to compare because babies are very different. Rhianna had been very forward compared with other babies born at the same time as her, also with Jo being born 11 days early, and Rhianna 20 days late, to us this meant Joanna could be about a month behind Rhianna in her development. She was still giving us no great concerns she was feeding well and gaining weight, we had a laid back little girl who appeared to be a very content baby.
Then on the 9th February at the baby clinic my health visitor noticed Joanna’s lack of muscle tone, and how she didn’t seem to be kicking her legs around. Now I hadn’t really noticed this even though we had Rhianna you forget how a baby feels and get used to your own baby unless you are handling a lot of babies. My health visitor sent me straight to see one of the GPs. The GP examined Jo but didn’t seem too concerned and just said we would keep a close eye on her development. I went away thinking well if the doctor isn’t to concerned maybe my health visitor is over reacting. But I was now looking at Joanna development in a slightly worrying way. Over the next few weeks I found myself worrying more and more, I started to notice Joanna was not as strong as other babies her age, and in many ways as much as I encouraged her she seemed if anything to be getting weaker. When Joanna was four months I started her on some solids and she took to this well.
At the beginning of March Joanna was referred to Dr Sainsbury between now and Joanna being seen she caught a cold and started to wheeze a lot, the doctor’s told me she had Bronchulites whether it was or whether as I suspect it was the breathing effects of SMA I’m still not sure. I was by now very concerned about Joanna our appointment still hadn’t come. On the 22nd March I took Joanna to one of our GPs who told me if it became more urgent she would get me a quicker referral! The following day I took Joanna to the baby clinic where a health visitor who was standing in and who hadn’t seen Joanna before told me Joanna needed to be seen sooner rather than later and to ring Dr Sainsbury secretary explain the situation and ask for an appointment. That is what I did and got an appointment for the next week on 31 March 1999.
By this time I realised that maybe Joanna did have some problems but never thought that it would mean our daughter would not live to see her first birthday.
One thing which I’m sure threw our GPs and health visitor was that Joanna was so happy and alert and very smiley and the amazing eyes which followed you everywhere.
When we arrived for our appointment with Dr Sainsbury, the senior registrar Claire Hamer first saw Joanna. After examining Joanna she called in Dr Sainsbury the consultant to examine her, after examining her and asking us lots of questions about my pregnancy with Joanna, which had been perfectly normal with no worries. About Joanna birth and her health since. They also wanted to know if there was any family history of slow development or health conditions and about Rhianna. They told us they would like to refer her to Bristol hospital we wanted to know what they thought was wrong with her but they told us it could be a lot of different things some of which were very serious some of which were not so serious. This left us very worried and none the wiser as to what could be wrong. We were sent over to the physio dept to show us how to do chest physio for Jo, to try and help clear her chest and Dr Sainsbury said he would ring us and tell us when we would be going to Bristol and it was likely to be in the next few days. Joanna had some blood taken to test for muscular dystrophy but we were told this was unlikely to be the cause.
We went away from the hospital with not many more answers but glad that Joanna problems would now be looked into and treatment given.
The next day we received a phone call from Dr Sainsbury to say that he had spoken to Bristol and there was a new blood test available which they would like to do on Joanna, at Torbay and to take her over to see him after her physio on 7th April. We were very relived that we would not have to travel to Bristol and at last it seemed we might have some answers. Someone might be able to tell us what was wrong with Joanna. We still had no idea it was going to be so serious and that Joanna was unlikely to be with us in a year’s time.
On the 7th April, we would hear about SMA for the first time and how they suspected this is what was wrong with Joanna and then what it was likely to mean for Joanna. This was the worst day of our lives that is until the day Joanna died, Sunday 18th July 1999.
Although it was one of the worst days of our lives, it did now mean we knew what we were dealing with. The days not knowing what was wrong were nearly as bad as the day we had the diagnosis, because however awful the diagnosis, we still at this time and until the day she died had a very happy special baby girl “ JOANNA”
Joanna touched our hearts and everyone who knew her too, she made us happy she made us cry, time goes by it doesn’t make it any easier but you learn to live with what has happened, but then you have little choice, when SMA affects your lives. But I do know for all the sad moments we had for Joanna, we also have many more very happy ones, and Joanna had a smile for everyone. She will never be forgotten.
SMA is hereditary and both parents must carry the gene for a baby to be born with SMA. If you are both carriers there is a one in four chance of a baby boy or girl being born with SMA unfortunately you are very unlikely to be aware that you are carriers of the gene until you have a baby who is affected. Although I say unfortunately this is not entirely true, because these very special babies give so much to all who meet them in their short lives.
It is estimated that one in fifty people are carriers of the SMA gene these people are perfectly healthy.
When our second baby daughter Joanna was born she passed all her first health checks, which isnt unusual for babies born with SMA. Then at around three to four months we noticed her muscle tone and development wasn’t what it should be, she was referred to Torbay Hospital, where we would soon learn our daughter had SMA Type 1.
What was SMA and how would it effect our daughter, there is no easy way of hearing or giving the prognosis of SMA Type 1. Our daughter would not see her second birthday, more realistically would not see her first. There is no cure for SMA, but there is a lot you can do to make their lives happy ones.
Complete devastation is all you can feel at a time like this your world hopes and dreams for the future fall apart. But within days we realised that although Joanna was unlikely to be here with us in a year’s time (no one has this guarantee in life) at the moment she was happy and had a life to live, and in that short life she touched many peoples hearts. She was amazing is the only way I can describe her, she gave us such strength for what lay ahead.
Now people tell me they remember Joanna for her amazing big blue eyes which followed you every where, and the inspiration she gave in her life.
Joanna was nearly nine months when she died last July from SMA Type 1. She is still deeply missed by all that knew her.
We don’t wish to frighten any one but just want to make people aware of SMA and how it does exist.
There is an excellent support group for families who lives are affected by SMA. The JTSMA they have all the information that you can possibly want and can put you in contact with other families, which can help you feel that you are not alone at this very difficult time.
Written by Judith Pitcher & Paul Bridel- Parents of Joanna Rose - 23/10/1998 to 18/07/1999
The months before Joanna was diagnosed with SMA
Joanna was born on Friday 23rd October 1998 she was born by elective caesarean during which I was awake a few days before my due date of 3 November 1998. She was born at 10.02am she came out airing her lungs, and weighed 8lb exactly, she had Apgar scores of 9 then 10 at her birth. She was checked over and passed all her health checks no problems were found. We were delighted we had another healthy daughter a baby sister for Rhianna. Joanna was breastfed and she took to this straight away, while I was still in the recovery room. We then went up to the ward to get to know Joanna.
Joanna was a good baby in hospital different to her sister who I had to walk up and down the corridor of the ward with to get her to settle. Joanna would have a feed and then either just settle back to sleep or go to sleep in my arms. Rhianna came to see Joanna on 24th October which was her second birthday and was delighted to meet her sister.
Joanna had another routine health check while in hospital and no problems were found we came home from hospital on Tuesday 27th October. Rhianna was so excited about bringing Joanna home and when we took Joanna out she would show her off to everyone we met.
Joanna’s great grandma was in hospital when she was born and had been very ill after having a stroke and I used to take Joanna when she was just a couple of weeks old to visit her and she would love to see Joanna and sit there cuddling her and I’m sure this helped her great grandma pull through.
It seemed that we had a very content happy baby who was happy to sit in her car seat and watch her big sister causing havoc. Joanna rarely cried, she settled down to sleep much easier than Rhianna ever had and was causing us no concerns. She was gaining weight nicely and going to baby clinic fortnightly. In December Joanna had her 6-week check and there were no concerns. My health visiter commented a couple of times on Joanna’s amazing eyes and how they would follow me when I moved around the room. I can remember someone else once commenting on what a quiet cry Joanna had, but this did not seem a problem to us. Christmas came and went life was hectic with two young children and we felt happy and lucky to have two healthy little girls.
Rhianna is adorable don’t get me wrong but as a baby she was very demanding cyring a lot she was born 20 days late and seemed to be able to support her head from birth. In early January 97 when Rhianna was 2 ½ months, we had a photo done of Rhianna and she is lying on her tummy holding her head right up.
Now at the same age in early January 99 Joanna couldn’t do this but we werent wanting to compare because babies are very different. Rhianna had been very forward compared with other babies born at the same time as her, also with Jo being born 11 days early, and Rhianna 20 days late, to us this meant Joanna could be about a month behind Rhianna in her development. She was still giving us no great concerns she was feeding well and gaining weight, we had a laid back little girl who appeared to be a very content baby.
Then on the 9th February at the baby clinic my health visitor noticed Joanna’s lack of muscle tone, and how she didn’t seem to be kicking her legs around. Now I hadn’t really noticed this even though we had Rhianna you forget how a baby feels and get used to your own baby unless you are handling a lot of babies. My health visitor sent me straight to see one of the GPs. The GP examined Jo but didn’t seem too concerned and just said we would keep a close eye on her development. I went away thinking well if the doctor isn’t to concerned maybe my health visitor is over reacting. But I was now looking at Joanna development in a slightly worrying way. Over the next few weeks I found myself worrying more and more, I started to notice Joanna was not as strong as other babies her age, and in many ways as much as I encouraged her she seemed if anything to be getting weaker. When Joanna was four months I started her on some solids and she took to this well.
At the beginning of March Joanna was referred to Dr Sainsbury between now and Joanna being seen she caught a cold and started to wheeze a lot, the doctor’s told me she had Bronchulites whether it was or whether as I suspect it was the breathing effects of SMA I’m still not sure. I was by now very concerned about Joanna our appointment still hadn’t come. On the 22nd March I took Joanna to one of our GPs who told me if it became more urgent she would get me a quicker referral! The following day I took Joanna to the baby clinic where a health visitor who was standing in and who hadn’t seen Joanna before told me Joanna needed to be seen sooner rather than later and to ring Dr Sainsbury secretary explain the situation and ask for an appointment. That is what I did and got an appointment for the next week on 31 March 1999.
By this time I realised that maybe Joanna did have some problems but never thought that it would mean our daughter would not live to see her first birthday.
One thing which I’m sure threw our GPs and health visitor was that Joanna was so happy and alert and very smiley and the amazing eyes which followed you everywhere.
When we arrived for our appointment with Dr Sainsbury, the senior registrar Claire Hamer first saw Joanna. After examining Joanna she called in Dr Sainsbury the consultant to examine her, after examining her and asking us lots of questions about my pregnancy with Joanna, which had been perfectly normal with no worries. About Joanna birth and her health since. They also wanted to know if there was any family history of slow development or health conditions and about Rhianna. They told us they would like to refer her to Bristol hospital we wanted to know what they thought was wrong with her but they told us it could be a lot of different things some of which were very serious some of which were not so serious. This left us very worried and none the wiser as to what could be wrong. We were sent over to the physio dept to show us how to do chest physio for Jo, to try and help clear her chest and Dr Sainsbury said he would ring us and tell us when we would be going to Bristol and it was likely to be in the next few days. Joanna had some blood taken to test for muscular dystrophy but we were told this was unlikely to be the cause.
We went away from the hospital with not many more answers but glad that Joanna problems would now be looked into and treatment given.
The next day we received a phone call from Dr Sainsbury to say that he had spoken to Bristol and there was a new blood test available which they would like to do on Joanna, at Torbay and to take her over to see him after her physio on 7th April. We were very relived that we would not have to travel to Bristol and at last it seemed we might have some answers. Someone might be able to tell us what was wrong with Joanna. We still had no idea it was going to be so serious and that Joanna was unlikely to be with us in a year’s time.
On the 7th April, we would hear about SMA for the first time and how they suspected this is what was wrong with Joanna and then what it was likely to mean for Joanna. This was the worst day of our lives that is until the day Joanna died, Sunday 18th July 1999.
Although it was one of the worst days of our lives, it did now mean we knew what we were dealing with. The days not knowing what was wrong were nearly as bad as the day we had the diagnosis, because however awful the diagnosis, we still at this time and until the day she died had a very happy special baby girl “ JOANNA”
Joanna touched our hearts and everyone who knew her too, she made us happy she made us cry, time goes by it doesn’t make it any easier but you learn to live with what has happened, but then you have little choice, when SMA affects your lives. But I do know for all the sad moments we had for Joanna, we also have many more very happy ones, and Joanna had a smile for everyone. She will never be forgotten.
